Preimplantation Genetic Diagnosis-Baby's Beginning

New, Better Test for CVS & Amnio Samples

2010-04-02T13:11:00.003-09:00

If you're planning to do a CVS or amniocentesis, you should ask your doctor to have your sample analyzed with this new test as well - the new Chromosomal Microarray Analysis (CMA). Just this one test can identify over a hundred abnormalities simultaneously, and is superior to older technology used to evaluate chromosomal disorders.

You don't have to do anything extra during your CVS or amnio, all you have to do is have your doctor send part of the sample afterward to Baylor's Medical Genetics Lab, the institution who is currently offering the test. As long as you've got a sample, you might as well run the test and be sure your baby doesn't have any other disorders you might not have known to test for!

The New Universal Genetic Test - Take it!

2010-03-24T17:37:00.003-09:00

I am so happy they have finally come out with this! At last, there's one test you can take that will test for over 100 different genetic disorders, from the common like cystic fibrosis, to ones I've never heard of, like "Maple Syrup Urine Disease Type 1B". In the very near future, this will undoubtedly become the new standard test for all couples planning to conceive. And there's more good news - it just needs saliva, it's prick-free! And more - it's covered by most insurance! If by chance your insurance doesn't cover it, it's still only $350, which is not bad at all considering how many things it tests for, and obviously the potential life-saving info it gives. They also offer financial aid to families at high risk for disorders.

On their website, Counsyl, the company who does the test, says that most people are carrying about 4 or 5 of the dangerous disorders that they test for. It takes two copies of most of those genes, one from the mother and one from the father, in order for the baby to get the disorder. Most of the time, babies get lucky and Mom and Dad won't be carrying the same disorders. But most of you reading this realize that "most of the time" isn't good enough when it comes to your baby's life. So even if you've already identified one disorder you're at risk for passing on, cover your bases and make sure that's all you have to worry about!

I really recommend that everyone take this test. You don't even have to go into the doctor's office - you can order the test online, they will bill your insurance for you, and you just spit in the tube and send it back. I wish everything to do with conception were so easy!

Plan #5 and an exciting new option - "Mini PGD"

2009-06-12T14:52:00.003-09:00

My goodness... are we really on Plan #5 now?? Well, this one I think will be a lot less painful. I recently found out about a new option, called "Minimal Stimulation IVF" or "MS IVF" (with PGD of course). Basically, instead of having to give yourself injections, pumping your body full of drugs, hyper-stimulating your ovaries and forcing them to produce a ton of eggs, many of which are of very poor quality, you get a more natural approach. Instead of injections, you get oral medications (it looks like usually Clomid is the main one used), and a nasal spray. (For those not familiar with Clomid, it's a very common fertility drug that's fairly gentle compared with the other more potent drugs and dosages used in conventional IVF). Instead of forcing your ovaries to produce 10-20 eggs, you just gently increase production to 3-5 eggs. No more painful, enlarged, tender ovaries! In fact, instead of the "twilight" anesthesia that puts you completely out that is necessary during a conventional IVF egg retrieval, they usually just give you a local anesthesia or just an oral pain med, since your ovaries aren't so large and tender, it's just not necessary.

This sounds like such a healthier option to me! Their success rates are actually the same as conventional IVF as well, because although you get less eggs, they're of higher quality, so you have less eggs with random chromosome problems and more that will grow into healthy pregnancies. Egg quality was what killed us on our previous PGD. Even though we had half without the genetic disorder, they either had a random other problem, or just didn't grow for no reason. And not to mention, there's usually no injections! They say some women require a few injections depending on your specific situation, but they are always much less than with conventional IVF. Sounds awesome to me! It's freaky having to give yourself shots.

The #1 clinic in the U.S. that does this is the New Hope Fertility Center in New York. For international readers, I believe Japan is currently the leader in this new method. Check out their website, they've got a lot of good information on there. The one negative I've found so far, is that they send out most of their PGDs. They only do PGDs in their center for gender selection. The rest are sent to another clinic for analysis. It makes me nervous thinking of our embryos being sent back and forth, that's why we travelled to RGI in Chicago before, to avoid our babies getting shipped. However, I think the safety and health benefits of their method is more important than avoiding shipping, so we'll just have to go with that. It is a very common thing, I know. Just makes me nervous.

I called them up today for the first time, and their setup is very easy. We don't have to do anything until we're ready to do the pretests and exams, which is certainly a nice change from the never ending paper pile we went through at RGI. RGI will still do our PGD portion of the procedure, since they are really one of the few that has experience with our genetic disorder and they already have our probe done. They don't accept our insurance, so I'm not sure if they will help us file an insurance claim or if we'll need to do that on our own, which will be a bit of a headache. However the cost of this is less as well - it looks like it will cost roughly about $10,000, according to the fees on their website, as opposed to the about $25,000 at RGI.

I'm going to take a long 6 months to recover this time. One for each month of pregnancy, plus one since I know now that a termination is harder on the body than a miscarriage, plus another one just for my husband, who is really worried about my poor body after all these procedures and is also just a bit stressed out and needs a break. It will work out well since we can do the pretests and exams before the holidays, then do the PGD cycle in January.

We lost another one.

2009-06-12T14:16:00.002-09:00

Does this picture look familiar? It's becoming like a second home to me... Well, we got pregnant again naturally, again after only one month of trying. But alas, once again, we got an egg from the bad half of my stores. This just feels like a bad dream... I feel like I'm going to wake up one of these days and get the other phone call... the good one...

It was a girl this time. We had a day of indecision... I wavered. We decided in the beginning we would have to terminate girls as well. There is just too high of risk of neurological problems. But then, there's always the hope that maybe she might be okay... We talked to the doctor, talked to the genetic counselor, we wondered specifically about ultrasound options - if there was anything we could scan for in the ultrasound that would give us any indication of how severe, or absent, any neurological problems would be... But the answer is no. I knew this would be hard, and it really truly is the hardest thing. Forget miscarriages and terminations with the boys, we knew they wouldn't survive anyway. Forget giving myself injections and the rest of the PGD, that's nothing. Living through three first trimesters only to have the baby die, it's inconsequential. THIS is hard. But in the end, desperation aside, I know we cannot gamble with life. We made the decision to try naturally, we knew a positive girl was a possibility. Now that we're actually in that situation, we have to accept our decision and logic and not be guided by wishful thinking. Sure, she might be fine, but then again, the risk of neurological problems is just too great. We will never know, and that's just something we have to live with.

This was our third and final natural try. I don't feel that it's medically a good idea to continue to have miscarriages and terminations. Three is already too many. While the PGD has its own concerns, luckily, many of them may now be avoidable! I can't wait to tell you about a new option I just recently found out about - "Mini PGD"...

Plan #4

2008-10-30T08:08:00.002-09:00

Well, here we are again. I became pregnant naturally again, and we had bad luck, again. Another boy with IP. Sometimes it just doesn't seem real. I don't know how many times it's going to take. I know I really don't want to be walking through hospital doors again, with another D&E in my future.

Well, there's not much we can do though. We're going to try again naturally. As hard as it is, I really feel it's not as hard as going through the PGD process again. But just one more time. If, I don't even want to say it, this should happen yet again, we will try the PGD again. Oh, and if anyone's wondering, we did get fully reimbursed finally for our previous PGD.

A small victory

2008-08-27T13:37:00.005-09:00

After almost five long months, we've FINALLY got some money back from RGI that our insurance reimbursed. This is the very first insurance reimbursement (the other reimbursement was directly from RGI because we didn't have a transfer). It's only for $5,500, but that feels like a lot right now. At least it's a step in the right direction.

I've received three insurance statements in May and June saying that our insurance has reimbursed RGI about $11,000 so far, however RGI has only reimbursed us this $5,500 of that so far. I finally dragged this out of them by trying a new tactic - instead of talking to the same lady every time, which I thought would be better so I wouldn't have to explain things to a different person, I decided to try to get someone new. So this time I talked to a new lady, and she said she was showing that we were owed this $5,500 and she mailed that right away. I guess I should have tried talking to someone new before, it's just so annoying to get a new person and have to talk them through things, you know? But she was very helpful and at least we've received that portion.

Now she says I need to call this medical billing company to check on the rest because she's not showing that we're owed anything else. I wanted to get this company's info before, but was unable to with the original billing person, so I'm happy to get their number so I can call them and again talk to someone new. On the refund letter it says this $5,500 is for the PGD... I'm not quite sure which portions of the PGD are included in order to add up to that. The only combo that works is the PGD Setup Fee $3,500 + Chromosome Testing Fee $2,000 = $5,500, however that doesn't include then the embryo biopsy fees or anything... Kind of confusing. I'll try to see when I talk to them, again.

But anyway, hooray for us for getting $5,500! :)

Got some back

2008-04-11T17:04:00.005-09:00

We FINALLY got our first reimbursement!! Hooray! We got reimbursed for the transfer portion, since we didn't do the embryo transfer. I see that our credit card has been credited $2,596. So, out of a total of $26,322, we now *only* have $23,726 left. Well, I'm just happy to get SOMETHING back. This was credited directly from RGI, but the rest has to be submitted to our insurance first, which hopefully they've done by now...have to check again on Monday. I hope the rest comes soon!

Plan NA - Natural Again

2008-04-05T18:41:00.003-09:00

So, here's the new plan (if you're counting, this would technically be Plan C now...): We taking a 3 month break to let my body recuperate after all those drugs and procedures. For the first 2 months we're going to prevent, then the 3rd month not prevent but not actively try. We're going to try naturally for 2 years. If I have another miscarriage or termination, then we'll try the PGD again. If I don't get pregnant after 2 years, then we'll also try the PGD again, since that would be the point at which I'd start taking medications to help conceive. If I have to take medications, I might as well do the PGD again. So that's the plan.

I'm determined to have my children. One day, I will realize my dream of becoming a mother. I just really hope it doesn't take too long...I'm going to be more aggressive with our methods this time, while trying naturally, so hopefully it won't take a year and a half again. I'll keep updating this blog with our insurance reimbursement information so you can know how that turns out.

It's over. FAILED.

2008-03-31T20:25:00.000-09:00

I can't believe it. After everything I went through...multiple injections every night, needles and probes invading my body, our savings emptied...and all for nothing. We went to the clinic this morning for my transfer, all excited and bladder full. We sat waiting for about 45 minutes. Then Dana came and called us back, and said, "I'm sorry, but I have bad news." Out of our 7 zygotes, 3 tested positive for IP. Of the 4 IP-free ones, 2 had chromosome problems. The remaining 2 simply didn't grow, for no known reason. 7, 4, 2, ... 0. There is always some percentage in every batch that has chromosome problems, and there's always some percentage that just doesn't grow. Unfortunately for us, the ones with IP, the ones with chromosome problems, and the no-growers all just happened to be different ones. They said it was just really bad luck. It doesn't mean that my eggs or bad or anything, just plain bad, horrible luck.

I'm really devastated. I feel like my whole life has just fallen apart. We did this procedure to avoid another miscarriage, but really it was just as bad, worse actually, with all the drugs, needles, and invasive procedures. Even emotionally it's just as bad, because it drags out for months and months. The steroid especially made me feel so bad physically. So we have 2 choices now, to try again naturally, or to try the PGD again. I've chosen to try naturally. This was no better than a miscarriage, so I'd rather keep my body healthy and natural than doing all these drugs and procedures again. If I have another miscarriage, then we'll try the PGD again. Neither recurring miscarriages nor the PGD is good for the body, but at least maybe I can switch back and forth to avoid getting too much of one thing...

I just can't believe this happened...I never thought we wouldn't even have any to put back... :(

Sperm meets egg

2008-03-27T13:15:00.000-09:00

We got an update today - of the 13 eggs that were retrieved, 12 were mature. Of the 12 eggs that were mature, 7 fertilized normally. So now we have 7 little zygotes sitting in the lab! :) That's a relief! 7 is good - hopefully we'll have at least one or two for transfer then...and do I dare even hope for a few to freeze??

I'm still recovering from the egg retrieval. I had 2 days of bedrest - yesterday and today. I just feel kind of sore and a bit crampy around my ovaries, but nothing bad. Tomorrow we're planning on going out a bit, but nothing that requires too much walking.

So the billing lady finally faxed the IVF codes to our insurance. I called our insurance again today and she said she had to look for it then would call me back on the status...

Condom porn?

2008-03-26T09:48:00.002-09:00

I had my egg retrieval, and hubby gave his sample today! :) We got 13 eggs! Hooray! I didn't like this anesthesia as much as the general anesthesia I had before with my miscarriage. This "twilight sleep" left me groggy for about an hour after I woke up, and also made me nauseas. I'm surprised, because I thought since general anesthesia is stronger, I would feel more effects from that, but that wasn't the case at all. I didn't feel any pain and don't remember anything about the procedure. I remember the anesthesiologist said he was giving me some medicine, and then I was waking up. When I woke up, I had a fair amount of discomfort around my ovaries, but no real pain. They said I can take Extra-strength Tylenol for pain if I want to, but I don't need to.

My poor hubby said the porn they gave him was really bad. In the video they were using condoms! I didn't even know they made porn with condoms! So, guys, here's a tip - you might want to bring your own viewing materials with you, to help things along.

Suicidal? No, just procreating.

2008-03-24T19:13:00.003-09:00

I triggered! I took my last 3 shots tonight! No more shots! No more shots! :) I had my final monitoring appointment today, my first visit to the Chicago office. We signed our consent forms - which, by the way, included some options that might be of interest:

Egg fertilization

Option 1: Fertilize all eggs retrieved - We choose this option of course
Option 2: Fertilize only 12 eggs - This option is available for people who want to minimize the number of embryos that will be discarded at the end of the cycle, if they're not freezing or donating the extras. Personally, I can't imagine not using every single chance I get! However, I've talked to some people who's religions don't approve of discarding embryos, so this might be a good option for them.

Cryopreservation/donation

Option 1: Freeze unused embryos - We choose this option
Option 2: Donate unused embryos to other couples
Option 3: Discard unused embryos

If you froze embryos - In case of death of both parents (This one seems rather morbid! lol)

Option 1: Donate frozen embryos to research
Option 2: Discard frozen embryos

Submit private data to the government for statistical purposes

Option 1: Agree to have your data & identity submitted to the government
Option 2: Have your data only submitted anonymously - We choose this one. They don't need to have more of our data on hand than they already do!

My ultrasound and bloodwork went well - I have 16 follicles that look good, and my estrogen is 1,620 - pretty perfect! :) So they moved up my egg retrieval one day! So that means I triggered tonight! Hooray!! :) So tonight I had to take my last Gonal-F at 75 IU, my last Cetrotide (big hooray!), and the Ovidrel trigger. The Ovidrel trigger wasn't so fun. The needle looked the same size as the others, but when I went to poke, it was obviously bigger :( . It took wimpy me three tries to jab it in there...but it's all over now! I don't have to take any more shots! :) I hope the next shot I ever take is a routine vaccination! :)

Tomorrow I get the day off - no more drugs! Except what's already in my system anyway ;) 26th March we go in at 9am for my egg retrieval.

Chicago!

2008-03-23T18:06:00.001-09:00

We're finally here! We're in Chicago! Me, my other half, and my medications all made it. After a long debate, I decided to pack the drugs in my check-in. I was worried about not making it through security with all the needles, even though they say you're allowed to take prescription meds on the plane. My coordinator said you're only allowed to take one days supply in the carry-on and that I should check them in. I was also worried about our bags getting lost, but ultimately decided security was riskier. I've talked to other ladies that have been through this, and they all carried theirs on without any problem...still makes me nervous though. I was very relieved to get our bags back safely! Our connecting flight got canceled so we were delayed, but we finally made it to our hotel room just in time for my shots, and safely put the rest in the fridge. By the way, make sure you get a hotel room that has a fridge for the medications!

We went for a little walk on the beach downtown, but other than that we just slept and hung out in the hotel room this weekend since we were both tired and I wasn't feeling very good.

The midnight call

2008-03-22T12:53:00.000-09:00

At my second monitoring appointment, after 5 days of stimulation, my 16 follicles are looking good, and my estrogen is 1,046. They lowered my dose again from 112.5 IU to 75 IU for Friday & Saturday night, then I go back up to 112.5 IU on Sunday night. They are also having me start Cetrotide. It's funny - my intuition about the meds has actually been right so far - I thought they would lower it last time, and they did, and this time I felt kind of okay, I thought they might lower it and might not, and they lowered it for 2 days then went back up on the 3rd. And I thought I would need to start Cetrotide on Friday, since I got some cervical mucus, and indeed I did start it that day.

I had so much trouble with the Cetrotide the first time! And actually, it's still hard. The first problem, that I didn't notice at first, was that the plunger slowly comes back up if you let go of it after pushing it down. Yikes! So you'll suck up air, blood, whatever, if you're not careful! And it's really hard to keep holding on to it exactly in the same place so you don't accidentally squirt any out, or suck any air up. Then, the powder that's supposed to mix with the liquid didn't mix all the way. There was still some stuck to the bottom of the vial. I waited a few minutes, "gently swirled" like the instructions said, then more vigorously swirled, but it still wouldn't dissolve. I saw warnings that said "Do not inject if particles remain", so I thought maybe that one had gone bad somehow. So, I threw it away and got out another one. This time I was aware of the plunger problem and carefully held it, then I carefully kept the needle above the powder in the vial, instead of injecting it directly into the powder, and swirled and swirled. Some was still sticking to the bottom. So what to do?? This was at about 10pm, so I called the emergency number for the pharmacy. They said they would page someone and call me back. I waited a few minutes, but wasn't sure how long I should wait. So then I called my IVF coordinator's emergency number. She called me back right away. All this time I had been holding on to the vial and plunger, swirling. After about 15 minutes, as I was talking to my coordinator, it all finally dissolved. She said it was unusual to take so long, but as long as it dissolved it was okay, so I should go ahead and do it. I felt so bad for calling her so late :( , but I really had to. I just didn't know what to do.

So then, it was also really tricky getting the liquid in the vial back into the plunger! I had to hold the needle so it was just barely in the vial, so it would suck out all the liquid, but of course not let it come out of the vial and lose all the medicine. And of course not let the plunger plunge the wrong way, all at the same time. I messed up and got some air mixed in, and had to wait for it to settle so I could get it out...but in the end, I did get my injection. Whew. That was NOT easy. The Gonal-F was so easy to do, I didn't have any trouble. But this Cetrotide, yikes. Not fun at all. It made my skin turn red too around the injection site. The Gonal-F never did that. I'm glad at least I don't have to take too many days of it.

Growing my eggs

2008-03-19T19:47:00.002-09:00

I had my first monitoring appointment today. At my last appointment, before stimulation, I had 9 follicles and my estrogen was 41. Today, 5 days later and after 3 days of stimulation, I have 16 total follicles, 12 of which "look good", and my estrogen is 420. I haven't quite figured out what good or normal numbers are though, so I'm not really sure what that means! I've heard that somewhere around 3,000 - 4,000 for estrogen is usually considered too much, so I guess I'm nowhere near that yet...I also get to lower my dose now, one step down. I'm going from 150IU of Gonal-F to now 112.5IU of Gonal-F. Less drugs sounds good to me :) I guess I'm responding pretty normally, since they only lowered my dose a little. I'm still dealing with insurance stuff. Hopefully some day we can get reimbursed.

All systems go for launch!

2008-03-14T14:09:00.003-09:00

I'm so excited, and worried! I had my appointment today to see if I'm ready to start stimulation (Gonal-F) on Sunday. The appointment went great - my estrogen, lining, and follicles all look just perfect. :) So, that means we're really doing this! On Sunday I'll start stimulation, and next Saturday we're going to Chicago! I'm so excited!! And, I did it - I shot myself!! A nurse taught me how to do the shots today. She filled on with water, then I took it, and punched it in! Actually, it barely hurt at all, just a prick. It was so much easier than I thought, and really not that scary. I don't think I'll have trouble doing it on Sunday at all. I'm doing 150 IU of Gonal-F using the Gonal-F Pen sometime from 7-11 pm Sunday, Monday, and Tuesday nights. Then I have another appointment on Wednesday to see how it's going. Yes, yes, I did it! I just bravely stuck that needle in like I was a pincushion!

Also, today was payment day. Yipee...Unfortunately, our insurance still hasn't finished doing that second benefits advisory for the IVF portion. So I had to pay it all upfront, and get reimbursed later! :( They already have the PGD portion approval, so that I didn't have to pay, and they said they'll be billing for it soon so then we'll get the $3,500 setup fee back that we already paid ourselves in January. The $2,000 chromosome testing fee that's not covered I also paid today, and of course we won't be getting that back. The IVF bill that I paid today was $20,822!! Ouch!! Our savings is empty now. I really hope I'll be getting that back later!!! The original quote I got for the IVF portion was only $10,000, however apparently that didn't include monitoring, blood tests, and some other things...I'm still confused about that, but she's going to send us the complete breakdown. Hopefully it won't matter because we'll be getting reimbursed later...I hope. However, I will list the final breakdown when I get it, since I'm sure you readers are very interested in how that mysteriously got doubled! I asked her for the breakdown on the phone, and she went on and on for awhile in a long list, so I think I just need to see it written down to really get a grasp on where that's all going. If only someone else like me had written a blog about this earlier, maybe I could have fixed this insurance problem before it started! Lol. I hope I can help some of you to avoid going through this rigmarole and just getting everything right the first time.

Queen of Billing

2008-03-06T15:10:00.005-09:00

If I didn't check, and push, and follow-up, I'd be this old by the time we have our first child! You have to be so on top of things, so proactive, to make a PGD happen. The lady from the billing department at RGI called me this morning while I was still in bed (Chicago is two hours ahead of us). She said it's time for payment. Okay. However, when she quoted the price, I discovered that she still didn't have my insurance coverage information! Sigh...Our insurance told me that they had faxed everything to RGI in the middle of February, but you know the golden rule of fertility faxes - It takes two phone calls to get a fax actually sent! She put me on hold and contacted my PGD coordinator, and said now she did have coverage information for the PGD, however, not for the IVF portion. She said IVF is not covered because it's not for infertility. So then I call my insurance, they verify again that yes, the IVF is covered, but they said the IVF was not specifically included in the benefits advisory I requested since the letter from my genetic counselor only included the special codes for the PGD. Although IVF was listed in the letter, the special IVF codes were not. So, yes, the IVF is covered, but she can't give me anything in writing because to do that I need to request a benefits advisory for the IVF portion. So, I call the RGI billing lady back and leave a message, then call my genetic counselor and leave a message. My genetic counselor calls back and says the billing lady will take care of it, then the billing lady calls and says that she will submit the letter with the IVF codes included. So now I don't have anything to do but wait for my insurance to get back to billing with the official IVF portion approval.

I'm sure you readers weren't particularly interested in all of that, :) , but I thought I'd just give you a taste of some of the problems that you have to take care of yourself. Of course, now, I shouldn't have to do anything, right? But I know better by now. After a couple days I'll call my insurance again, and verify that they have received the letter from the billing department, ask what the status is, and fix any problems that arise. Then, finally, I can pay the $2,000 optional chromosome testing fee, and the 20% out-of-network portion.

On a more positive note, I've made all our Chicago travel arrangements! We got two free tickets using our credit card points, one week of a free rental car also using credit card points, and a good deal on a Hilton, which was the result of a lot of searching. Credit card companies don't make it easy to use their points either, but after all this PGD stuff, I'm getting more used to getting down and dirty and just doing what's necessary to get what we want. I know it's paying off.

Status: Approved!

2008-02-21T11:22:00.003-09:00

I called our insurance this morning to check on our benefits advisory, and they said everything's approved!! :) HOORAY!! :) I'm so happy! I had no idea if they'd approve it or not, and I was worried they might even deny the IVF portion, but it's all officially approved now! :) What a relief. Hopefully we'll be able to get back the $3,500 setup fee that we already paid, too. That would be a big help! Whew. I'm so happy!

We're ON!

2008-02-17T10:29:00.000-09:00

I took my first birth control pill last night! Wow! I really started! We're really doing this! I'm officially "on the drugs" now. I just have to get through the next month and a half, and then April 1st I'll be pregnant!

Got my protocol!

2008-02-15T20:39:00.002-09:00

Hurray! Hurray! I got my protocol! :) This is really going to happen! My CMV retest came out okay, and my new cycle started, so now we know all our estimated dates and everything! :) So, here's the plan:

Saturday, 16th February: Start birth control pills (desogen). This is on Day 5 of my cycle.
Tuesday, 11th March: Take last birth control pill. This is a little over 21 days that I'll be taking them, so I'll actually need 2 packs of pills, although I'll only take a few from the second one.
Friday, 14th March: Have blood test and ultrasound appointment to see if I'm ready to start stimulation.
Sunday, 16th March: Start stimulation (Gonal-F).
Wednesday, 19th March: 1st monitoring appointment (blood test and ultrasound to see how many follicles are forming on my ovaries)
Friday, 21st March: 2nd monitoring appointment
Monday, 24th March: Last monitoring appointment - this will be done in Chicago. I'm guessing we'll probably go on Friday night or Saturday morning, since it happens to be on the weekend, and the dates could change depending on how my ovaries react to the stimulation.
Thursday, 27th March: Egg retrieval! :)
Tuesday, 1st April: Embryo transfer - this is when I hopefully will get pregnant! :) Hooray! :) I hope it's not an April Fool's Day joke... ;)

So, that's the schedule! It all starts tomorrow, on Saturday! We still have a lot to do. Mary said that Freedom Pharmacy - the pharmacy they use for the medications, will be calling me to schedule delivery of the drugs. Three of them have to be refrigerated so the delivery has to be pre-arranged. I have to get the IVF consent forms and anesthesia history questionnaire sent off to Mary, too, sometime soon. We also have to get our plane tickets and hotel reservations, of course. Since it's possible the dates could change, I'm going to try and get changeable tickets this time. I also have to watch the videos online of how to give myself the shots. I think it'll be best just to not make a big deal out of it. It's just a few shots. So what? Thousands of other women around the world do it all the time. And it's only for a week or two, then it'll be all over and I'll be pregnant! :)

Another negative positive, ugh!

2008-02-01T10:08:00.000-09:00

One of my blood tests - the test for CMV, came out positive :( . Fortunately, CMV is just a cold-like virus, and not a huge deal, according to my IVF coordinator. I don't like hearing that I'm positive for any more things though! IP is enough! She said that often you won't even have any symptoms with CMV, and it will just go away by itself in a week or two. She said I should test again in a month, and hopefully it will be gone. The reason they test for it is that unfortunately, it can cause birth defects, so I want to be sure my body has ousted it before I start the PGD cycle. I looked up CMV: CytoMegaloVirus (si-to-MEG-a-lo-virus) . It can cause disabilities, down syndrome, neural tube defects, and things if you have it when you're pregnant! I definitely want to make sure it's gone! Most adults have been infected with it at some time, like the common cold. It doesn't seem to cause problems except during pregnancy, or in people with immune problems. CMV is the most common virus that's transmitted to the fetus during pregnancy. It's actually good that I became infected now, because if you have a first time infection during pregnancy, that's when it's most likely to cause problems. So now my body will be more immune to it. There's no treatment for it - just like a cold, and there's no vaccine for it. Basically, you just have to get over it naturally. I've been sneezing occasionally and what not, however it's winter right now, so I didn't really think much of it. Who knows if it's actually because of CMV or just random sneezes.

I'm still busy trying to get my test results sent to my IVF coordinator. For some reason it's very difficult to get a fax sent, and actually received, by different doctor's offices. Mary (my coordinator) finally has all of my test results (except of course I have to redo the CMV later), but she didn't get a couple of my hubby's tests, so I'm still trying to get those resent.

There were two prescriptions in my packet - one for prescription prenatal vitamins and another for the birth control pills. The rest of the medications Mary will send me herself from Chicago when the time comes. I already have prenatals that I really like (New Chapter Organics Perfect Prenatal, if anyone's interested), so I'm not going to take the prescription ones, but Mary said I needed more folic acid, so I'm going to take an additional folic acid vitamin as well. I'm planning to pick up the birth control pills today, so I'll have them when I'm ready for them next cycle.

I'm going to keep extra warm and have some chicken noodle soup to try to get rid of this virus!

Medications List

2008-01-30T13:53:00.000-09:00

I said I'd post the medications list after I asked some questions about them, and so, here it is. I won't know all of the precise details of my protocol until my next cycle starts, but here's the low-down:

Desogen: These are the birth control pills. I have to take these the cycle before my IVF cycle, probably for around 12-14 days. When my next period comes, I'll call my coordinator and she'll tell me when to start them and for how long I need to take them. This is the only medication I take the cycle before the IVF.
Gonal-f: This is the stimulation drug that stimulates me to produce lots of eggs. This is a SHOT that I have to give myself every night for about 6-12 days. I will be having ultrasounds and/or bloodtests starting on about Day 6 of the stimulation to see how my body responds, which will determine how long I keep taking this drug.
Cetrotide: This prevents early ovulation, so I won't drop the eggs too soon. It starts on about Day 6 of the stimulation. It seems that this is also an injection. Fun, fun... Again, how long I have to take it will depend on how my body responds - monitored by ultrasounds and blood tests.
Ovidrel: This is the trigger for ovulation, that causes the eggs to release from my ovaries. This looks like it's also a shot, however it's only a single dose. I take this 35 hours prior to my scheduled egg retrieval.
Doxycycline: Just an antibiotic to prevent infection from the egg retrieval process. This at least, like the birth control pills, I'm familiar with, and it's a nice pill to just swallow instead of needles to inject. It's a very common antibiotic used for all sorts of things from urinary tract infections to surgeries. In fact, I'm on it right now since I had to take it after my HSG. I'll take it for 5 days following the egg retrieval.
Medrol: This is a steroid that helps with implantation. At least it's just a pill! One tablet a day for 5 days.
Promedtrium: Progesterone to help with implantation. It says it's a capsule that's placed vaginally...well I'd rather do that than have another shot. 2 capsules 3 times a day. Whew.

That's all the medications! Everyone's protocol is different, but this is what I've been told will be the plan for me. I'm so scared about giving myself shots! It's hard enough to get shots when a nurse gives them to me. I just think it's so incredible that they expect people to be able to do this by themselves! How can people do this? I can't give myself shots! I just can't! But, I can't say I can't, because I guess I have to... Next cycle I'll make an appointment with a nurse to learn how to give the shots, although I think the video and instructions from Fertility LifeLines will be more helpful. I'm really freaking out about the shots...Three different drugs are shots, two of them multiple doses. Couldn't these be given in pill form? What's the difference anyway? Is all of this really better than another miscarriage? I only had one scary test before - the CVS. Now I've got days and days of self-given shots and pills and HSGs and needles going through my vaginal wall...

Time to go do something else for while, like go for a walk...

HSG - Horizontal Scary-o-Gram

2008-01-29T21:25:00.000-09:00

Well, I had my hystero- sonogram (HSG) today. The good news? It's OVER and done with, and everything looked great. The nurses told me, "Congratulations!" :) . However, it was certainly not an enjoyable experience. First of all, I had to go to the bathroom really bad while I was waiting, and I didn't know how long it was going to be or if I even needed a full bladder, so I decided to go. Turns out, I did need a full bladder. The nurses should have told me that before hand, though. So, when the doctor came in, he couldn't get the catheter in because he said my bladder wasn't full enough. So he left, and the nurses gave me more and more water to drink for about 15 minutes. Colllddd water. I was getting really cold in there with no pants on and all the cold water so I actually put on my coat on my top half to keep from shivering. Not a great start. When the doctor came back in, his bedside manner could have been better. He was obviously in a rush, he barely even glanced at me, and he told the nurses,"Okay, let's hurry and get this done because I have to get back upstairs.". Hmm, that made me feel special! That made me really nervous that he was going to try and rush things. Then he tilted the table really far backwards, so my legs were much higher than my head. He didn't explain things, but I'm guessing that's so the solution/dye that they inject will run out my tubes to show that they're open. I had to hang on to the sides of the table though, to keep from sliding down. Then he was putting things in, and he told on of the nurses to come over and push something. Then he said,"Push harder. Push harder." Yikes! Although I couldn't feel much, I couldn't help wondering, what is she pushing and why does she have to much so hard??? What if they're damaging my cervix or something? If I have cervix trouble in my next pregnancy, I will wonder about this day.

All in all, I didn't cramp much like I expected to, from hearing other women's accounts, and really it didn't hurt much. I bled just a little bit afterwards, which they said was normal, but was a surprise for me. I also have to take antibiotics now for a week, which I didn't know I was going to have to do. I'm really glad I'm not doing the PGD at this doctor's office. I really haven't had a great experience there so far. Then when I went to get my completed paperwork for all my tests, at first the nurse gave me only the half completed form that I first came in with, with none of the new test results on it. It took me more than five times asking her to get all my test results. She would find one or two and write the results on it and give it back to me, then I checked and saw that some were still missing. Then she'd look through my records and give it back again, but she still missed some. But finally I did get my precious form with all the test results filled in. She said she had faxed all the results to Chicago, but I'm going to fax the complete form myself again tomorrow, just to be sure. Because now I'm DONE with all the testing! Hooray!!! :)

The next step is to finish all the paperwork, and call Mary, my IVF coordinator. I need to see if I can start the birth control pills with my next period, and I have a lot of questions for her. One thing about doing all this, is that I know I already love my baby so much, and they haven't even been conceived yet. Going through all these procedures isn't easy, but I know it will be worth it in the end, when I have a healthy baby in my arms.

All clear ultrasound :)

2008-01-20T10:41:00.000-09:00

I had my Day 3 testing done this morning (four blood tests and the ultrasound), and now I am DONE with all the blood tests! Hooray! Also, my ultrasound looked perfect. I didn't realize I was worried about it until I felt the huge relief afterwards. I hadn't had an ultrasound since my miscarriage, so I wasn't sure how it would look. The tech said everything looked perfect - and I saw it for myself, too. It looked perfectly clear, nice and clean, and my lining looked good. My ovaries look good, and I think she said there were 5-6 follicles on my right, and 3-4 on the left, with my right one being dominant this month. She was a very quiet speaker and I had trouble understanding what she was saying, but I believe that's what she told me. I didn't know that you normally have more than one follicle per cycle, so that was interesting. It was just such a relief though to see my nice, clean, perfect uterus there, with no leftovers from the miscarriage or anything. For those of you that are counting, this is now my fourth period since the miscarriage. Next cycle I go on the birth control pills! I still have one test left - the HSG, which I had to move again because my period came later than I was expecting, so I have that next Monday now.

I still have those two packets of paperwork to go through that I just haven't had time for yet, but I'll hopefully be getting that done soon, since I need to figure out how I'm supposed to get my medications and the procedure for starting and whatnot.

Vampire Fest!

2008-01-10T11:49:00.000-09:00

So much blood! Yikes! I just had a bunch of blood drained out of me for all the various non-Day 3 tests I hadn't done yet. But there was one redeeming factor to the experience - my husband had to get a lot of blood taken, too! Finally, we can share some of the pain ;) . As much as I tried not to watch, I couldn't keep my eyes from seeing the piles of rather large tubes, filled with my precious dark red liquid, as they meandered around the room, trying to stay focused on the rather uninteresting charts decorating the venue. There were two large tubes for each of us just for the DNA kit. I'm surprised I still had any left when I went back there this morning to do the fasting glucose.

We haven't heard back from our insurance yet, after I mailed them Dana's letter along with one from us and a claim form. I want to wait a couple more days, but not too long. We'll just pay it ourselves and get reimbursed if they decide to cover it, since we really have to get the PGD setup process started. I did my pap smear and cervical cultures with my GYN, so those are done now. All I have left is the HSG and the Day 3 tests, which I should be done with in two weeks. Then I'll be done with all the tests! I can't wait! Another nice thing I thought of, is that our children won't have to do many of these carrier tests, since both my husband and I are getting tested. It's one positive thing I can focus on.

General update on calls & paperwork

2007-12-24T10:15:00.000-09:00

I'd thought I'd just give a general update on what I've been doing the last month, since nothing big has really happened. I received a fat packet in the mail from Mary, my IVF coordinator, which has all sorts of stuff including my complete protocol with the list of medications I'll need to take. I took a look at it and started crying because it made me so scared and sad :( . So many drugs I have to take... I wish I could just have a baby naturally... It makes me wonder again whether this is really safer than risking another miscarriage, but I suppose it really is. When I get up the courage to look at it again I'll post the medications list, after I ask Mary some questions that I have. I'm surprised they already have my protocol ready, without knowing the results of any of my tests! I thought all my hormone test results would determine the protocol, but apparently not. I guess they're just to check if everything's okay in general, or maybe then they'll alter it if a test comes up different than they expected. I'll ask Mary because that was really a surprise to me to see the whole protocol already. The packet also had a financial statement for us to sign, a bunch more general paperwork, and some nice looking info packets.

I went over to my old OB/GYN's office and got them to fill out the official patient workup form with the tests I've already had done, like my blood type, Rubella Ab, Hepatitis B Surface Ag, etc, that I listed two blogs ago. It looks like I had about half of these tests done when I was pregnant so I've got a good start. Then I faxed it to Mary.

Dana wrote a really nice letter for us to send to our insurance company to see if we can get coverage for the PGD portion. She emailed it to me for approval and now I'm waiting for the signed copy to come in the mail. I still have to figure out how to send it to our insurance company. I also told her we were ready to receive the DNA kit for our blood samples for the PGD so I'm waiting for those to come, too. I'm going to try and get the sampling done at the Washington Center for Reproductive Medicine where I'll be doing my testing and monitoring, and then we can both get some other blood tests out of the way, too. That way my hubby only has to come in for one appointment.

I got my referral and workup form sent to the Washington Center for Reproductive Medicine and I now have an appointment in January to do my hysterosonogram (the uterine cavity assessment) and the fasting glucose test. I want to get the HSG out of the way first since that's the most invasive, scary test. They said I could have all my tests done in one day, but that's a lot of blood to give, especially if I don't feel good because I've been fasting for the glucose test, so I'm breaking it up into three appointments - one for DNA and all the non-Day 3 blood tests except fasting glucose, another for the HSG and fasting glucose, and one more for the Day 3 blood tests and ultrasound. I think that will work out nicely.

"Besides having a healthy baby, is there anything else I can help you with?"

2007-11-14T17:45:00.001-09:00

That was how Dr. Tur-Kaspa introduced himself at our first official IVF phone consultation today :) (the last consultation with Dana was for the PGD portion). He was nice to talk to and pretty funny. He's one of those doctors that "tells it like it is" and obviously enjoys what he does. Let me think...no, I think a healthy baby is just what we're looking for right now! It's funny, my husband, on the same call with me, got a totally different impression of him and didn't really like him. He thought he was too pushy. I think it's because he told him he had to quit smoking, and kind of babied him about it! haha :) I hope at least my hubby really quits for good now.

It looks like we probably will do the chromosome testing now though. The doctor says that even though our chance of birthing a baby with a chromosome problem is low, 20-30% of our embryos will probably carry a chromosomal abnormality. If one of these is transferred, then it probably won't implant or will miscarry very soon. So, we probably want to do the full chromosome analysis, too, to make sure we get pregnant that cycle! So, that's an extra $2,000 that will probably be an out-of-pocket expense. Sigh. Well, I feel better about doing that testing anyway. Then we'll know all of the genders so we can choose one of each to transfer :) .

Some bad news is, I was hoping to do that long list of tests during the cycle right before our PGD cycle, however, that won't be soon enough. We have to do it two cycles before, at least. The doctor said my hormone levels should be completely normal after just two cycles after my miscarriage and that I shouldn't worry about waiting so long afterwards, but I still want to be really safe. I don't want to move our testing cycle any earlier, so I guess that means the PGD will be delayed one more cycle :( . Sigh. Waiting and waiting... It will be the end of March - beginning of April now. Well, I guess there's nothing I can do about it really.

We asked about freezing leftover embryos, and he said that we should definitely do it. Even if we just have one good embryo left, it's so easy to do an embryo transfer when you don't have to do the whole ovary stimulation and egg process that we should definitely save it. It would probably give us the same chance or maybe slightly better than if we had tried naturally that cycle, and we will already know that it's free of IP and any chromosome problems, so it's definitely worth saving. He said it costs $600/year for storage after the first year. I didn't ask how much the process costs initially or for the first year since our insurance pays for the first year of storage. I think we will probably do this then. I still have to discuss it with the husband though.

We didn't have too many questions for him since we had just talked with Dana. I'll have to take birth control pills the cycle before our PGD cycle :( , and my husband has to stop smoking :) . We've been assigned an IVF coordinator: Mary. I haven't talked with her yet though. I'm going to call her and see if I can get a direct number and fax for her for sending the tests I've already had.

Updated Price List & Test List

2007-11-13T15:46:00.000-09:00

Here's the total price list that Dana emailed me:

$3,500 PGD setup fee - For design of our testing system (we don't know yet whether we'll be able to get the PGD stuff covered by insurance or not)
$1,500 Biopsy fee - to test the eggs/embryos for IP
$2,000 Optional full chromosome testing fee (we probably won't do this)
$500 Optional gender testing of embryos (not sure whether we'll do this or not)
$10,000 IVF fee - $8,000 should be covered by insurance, $2,000 we'll have to pay
Seattle-Chicago travel we haven't arranged yet

Test List - These are the tests we're required to have before we can do the IVF/PGD. I think this will only be helpful for those of you that have some infertility experience, because personally I don't know what most of these are yet!
For me (the female) :

CBC (I don't know what this is)
Fasting Glucose
Blood type & Rh
Rubella Ab
Varicella Ab
CMV Ab (I'm guessing CMV must be one of the routine vaccinations, I don't recognize it though)
TSH (don't know)
RPR (VDRL) (don't know this either)
Hepatitis B Surface Ag
Hepatitis C Ab
HIV Antibody
Day 3 FSH (?)
Day 3 LH (?)
Day 3 E2 (?)
Day 3 Prolactin (?)
Cervical Cultures
PAP Smear
Uterine Cavity Assessment (HSG) (eww...)
Day 2-3 Ultrasound
Physical examination
Genetic carrier screen as applicable for ethnicity (I don't know what these are, but I hope we don't have to worry about it!:

Cystic Fibrosis
Tay-Sachs
Canavan
Familial Dysautonomia
Hemoglobin electophoresis

For my husband (why do HIS tests always have to be more fun than mine??):

Semen Analysis

Volume
Concentration
Motility
% Normal by Kruger or WHO Criteria

RPR (VDRL)
Hepatitis B Surface Ag
Hepatitis C Ab
HIV Antibody
Genetic carrier screen as applicable:

Cystic Fibrosis
Tay-Sachs
Canavan
Familial Dysautonomia
Hemoglobin electrophoresis

I think just about everything is a blood test. The only one I'm worried about is the Uterine Cavity Assessment. Not worried about the results, but worried about the process...I think this is the one where they shoot some dye up into your uterus and tubes to see if they're open or not...ewwww. Not fun. I'm pretty sure I don't have any tube problems though, so hopefully it won't be that big of deal... We'll be doing these tests probably in January.

Storks sure complicate things!

2007-11-13T14:49:00.000-09:00

We had our first official PGD consultation with Dana this afternoon! :) It took about two hours. She explained the whole process to us again, and answered our two pages of questions.

For those of you with IP who are wondering - It is possible to do PGD without a second sample from a family member, in some cases. Unfortunately, I can't be more specific than that. In any case, if you don't have a second sample, it will probably lower the accuracy of the genetic testing. However, depending on the size of your gene deletion, they may be willing to work with you on a sort of shared-risk basis, where you realize that the testing is not completely reliable. It's done on a case-by-case basis. So make sure, if you have a miscarriage, to save a sample! Even if you're not sure if you want to do PGD in the future, you only have one chance to save it. Better safe than sorry!
About whether the eggs or whole embryos will be tested - we won't know ahead of time. It's not an absolute thing, it depends on how the test goes for each individual egg. They will test the eggs alone first, and if the results are clear enough to give 98% accuracy, then they won't test the embryo. If not, they test it, too. So most likely we'll end up with a final group of embryos that include some that were tested as an egg, and some that were tested as both an egg and a whole embryo, all of which have at least a 98% accuracy rating. For those that were tested as an egg, we won't know the genders. For those that were also tested as embryos, we will.
If we want to test the embryos that were only tested as eggs to find out the gender, it's an additional $500. They also offer optional full chromosome testing for an additional $2,000.
Dana will write a letter of "medical necessity" for us to give to our insurance company to try to get the PGD covered, too.

As far as the additional chromosome testing goes, we're thinking that we probably won't do it. It would be nice, but really, we're not at risk for any other problems, it would cause additional trauma to the embryos, and it's an extra $2,000. It's an extra, not really something we need, so we probably won't do it. We probably won't do the extra gender testing either, because of the additional trauma it would cause to the embryo. Every time you take a sample, it puts the embryo at more risk, so if it's not necessary, we probably won't do it. We don't care about the gender for a single baby, however, we know we're at risk for getting twins again. We only want to have two children, one boy and one girl, so if we get twins, we'd really like to have them of opposite genders. So, maybe we will do the additional gender testing...we have to think about it some more. Probably some of our final embryos we will know the gender anyway, so it won't require additional testing.

To-Do List:

Dana wants a faxed copy of our insurance card
The paperwork that Dr. Tur-Kaspa's office emailed to me was just a privacy statement, request for a copy of our insurance and picture ID's, and a general health and fertility health history form for both my husband and I, about what you'd expect.
We both have to submit DNA samples (blood samples) and consent forms, and a $3,500 PGD setup fee. The fee is for our genetic testing, and for designing our PGD test program. A different testing program is designed for each couple, based on the specific genetic disorder and their DNA. This fee covers that cost. It doesn't include the egg/embryo testing, only the design of the testing program. We have to pay this cost ourselves when we submit our DNA samples, then we can try to get reimbursed later from our insurance.
We both have to have several tests done, mostly fertility-related tests on me (hormone levels and what not), and have the results sent to RGI. We're planning to wait until my fourth cycle after my miscarriage to have this done, since I want to be sure my body has returned to normal for setting my baseline record.
I won't be able to do my monitoring with an OB/GYN for a couple reasons. Some tests may have to be done on the weekend, and OB/GYNs normally don't do that. I'll have to go to a fertility clinic here. Also, it's better to go to a fertility clinic since they're more familiar with the protocols and whatnot. So we'll be going to the Washington Center of Reproductive Medicine for both our testing and my monitoring.

There's a lot to think about! I'm getting more scared about the hormone drugs. There's so many of them...It sounds like I'll have to give myself injections for awhile...!! I can't do that! I'm just trying not to think about it. I don't know what I'll actually have to take yet. It will depend on my test results. The medications are different for every individual. Since I'm young, hopefully I won't have to take as much as some of the other ladies I've chatted with online...I'm just trying to think that once I have our wonderful baby in my arms, I'll forget about all this stuff we had to do to get there...

PGD here we come!

2007-11-08T13:03:00.000-09:00

We can do it! We can do it! Dana said that Baylor DID still have my CVS test sample, so we will be able to do the PGD!! I'm so relieved! I'm sorry, for those of you who are wondering, I forgot to ask whether we would have been able to do it for sure or not without that sample, but I'll ask her on my first official consult next week. So, I think it's really going to happen! She scheduled me for our first official hour-long phone consult on Tuesday next week. Then she transferred me to Dr. Ilan Tur-Kaspa's office to schedule my first official IVF phone consult with him for Wednesday next week. The doctor's office will be sending me a bunch of forms to fill out that I have to fax back before the appointment. The consultation costs $200-something (I was so excited I forgot to write down the exact amount), but that will be subtracted from my PGD fee when we do the PGD. It's non-refundable though if we do the consult and then decided not to do the PGD.

Yipee! :) Also, the countdown has begun. I've started my first cycle now since my miscarriage, and we're waiting four full cycles before doing the PGD.

Mission: PGD; Status: Step 1 Complete!

2007-10-22T11:16:00.000-09:00

Hurray! I made the first phone call to the Reproductive Genetics Institute in Chicago. :) I called on Thursday, 18th October, and left a message. It kind of worried me that they didn't answer and that I had to leave a message, but I quelled my fears. A woman named Dana called me back the next day, on Friday, 19th October, but I missed her call and she left a message her phone number to call her back. So today, Monday, 22nd October, I returned Dana's call and we had a great conversation as to the first steps and timeline for setting up our PGD.

I looked her up after the call, but they don't have that much info on their website about their staff, although they have a lot about their physicians. I only found her full name and that she's an M.S. in the department of Clinical/Molecular Genetics. Not that it matters that much, I just like to know who I'm talking to. I was so happy with the way the call went! She was the first staff member or doctor who actually knew what IP was immediately (usually I get the "Hmm, interesting...Yes, I"ll have to look that up" response), and actually knew everything about it, too. She was very organized, clear, and nice, too, and I felt very comfortable talking with her. When she said she'd call me back after a certain point, I really felt like she would call back, too, and in a timely manner, which was reassuring.

There is, however, some very scary news. I'm surprised I'm not crying right now, but I guess the phone call just went so smoothly with Dana that I actually feel okay. We might not be able to do PGD for our next pregnancy. Apparently, IP is a little more complicated than most other genetic disorders that PGD can be done for. It depends on the specific mutation that I have, and also whether we can get a sample from a relative or not, so they can be certain of the familial mutation, or get my CVS sample. This of course makes me very scared. If we can't do PGD, then we'll have no choice but to try again naturally and risk another miscarriage/termination. Each miscarriage a woman has increases her risk of having another one with future pregnancies, so this is really disturbing news to me. Of course I have to have the rarest, weirdest genetic disorder! But, there's no use worrying about it now. Hopefully it'll be alright and we'll have a go for the PGD.

Here is some advice for those of you with a genetic disorder, especially if you have an unusual one like me - if you're trying naturally before trying the PGD and you have a miscarriage, make sure you call the PGD center immediately and see if they need a sample from the baby! It never occurred to me that we would need my CVS sample for my next pregnancy, but that might just be the determining factor for whether we can do a PGD now, or whether we have to risk another miscarriage. I just have to hope that they haven't thrown it away yet. It's a good thing I'm planning now!

Dana said she needs 3 things from me now:

My IP genetic report
My CVS report
My genetic counselor's contact info.

Once she has this information, she'll see if she can get my CVS sample (if they haven't thrown it out), look at my mutation, and determine whether or not we need to get my mother tested. We don't know whether my mother has IP or not, but I don't have any blood sisters so she is our only option. I contacted my maternal-fetal medicine office and they should have faxed the 3 things Dana needed by now, so all I have to do now is wait.

She told me that the institute they work with in Seattle is the Washington Center of Reproductive Medicine, Dr. James Kustin. However, since we're planning to go to Chicago for the actual procedure, I might just be seeing a normal OB/GYN. We'll have to see. I believe this was the "one guy at Overlake, just doing his thing" that I researched before, however after checking out their website he actually looks much better than I originally thought. They are willing to work with anyone, there was no pressure to go to Dr. Kustin, but I'm fine with seeing whoever they usually work with since I think smooth operations is the most essential thing. The center here won't be doing the actual IVF/PGD anyway.

I'm SO glad we decided to go with RGI (Reproductive Genetics Institute) in Chicago! It really makes a difference that they have the experience with my specific disorder! If we had gone with someone else, we might have wasted so much time before they suddenly told us, "Oh, I don't think we can do it...". Or worse, they might have just used standard procedure and not found out until they were actually looking at my egg's DNA that that couldn't figure out which ones were good and which were affected! We definitely made the right decision.

Plan A failed, back to Plan PGD

2007-10-01T14:11:00.000-09:00

Well, we tried our luck naturally, and our luck failed us. I became pregnant through temping, we did the CVS test at 10 weeks, and our babies died at 12 weeks (it was spontaneous twins). The results from our CVS test showed that they were boys and they did have IP. At least it happened naturally and we were spared the pain of having to terminate, although we had the very unexpected additional pain of it having been twins.

So, we're back to the PGD plan, for sure this time. We're taking a four cycle break, one for each month of pregnancy plus one for it having been twins, so we'll be doing the PGD procedure probably in February. There is at least some good news - except for IP, I was having a normal, healthy pregnancy. With our CVS they also tested for all the chromosomal disorders, which all came back negative, so as long as we screen out IP, I should be able to have a healthy pregnancy this next time with our PGD.

I'm a bit worried now though about the increased chance of having twins or even higher multiples with the IVF procedure. The risk didn't seem that real before, but after conceiving twins naturally, now it seems like a high probability. I know it's our decision how many normal embryos we transfer back in the IVF, so we will definitely take this decision more seriously now. We've already decided that if we get triplets, we will reduce to twins, but twins we will keep. I know from experience now that a twin pregnancy is difficult, and much more than eating 300 more calories a day. So we will plan for this possibility too now.

Financial response from Chicago

2006-09-11T19:16:00.000-09:00

I never got a response to the email I sent to the Reproductive Genetics institute in Chicago, so today I sent another one, through the automatic "contact us" link on their page, requesting a phone consultation. I got an email reply to that today, with at least some of the cost info that I wanted. They said the total cost of the procedure is about $13,000. The PGD analysis part that our insurance doesn't cover is about $3,500. They didn't give any figures for the cost of freezing and storing leftover embryos, although I requested that. But at least now we have some idea of what to expect!

Our infertility insurance should cover 80% of the expenses, excluding the PGD analysis. So the 20% we would have to pay of the about $9,500 is $1,900, say $2,000. So we're probably looking at a total cost of $2,000 + $3,500 for the PGD analysis + flight & lodging expenses for going and staying in Chicago, say maybe $1,000, and there's always some extra expenses, so we're probably looking at about $7,000 out-of-our-pocket expenses. Sigh. About what we expected.

It makes me think again though about how long to keep trying to get pregnant natually. Maybe we can keep trying a bit longer than I was originally thinking. The prenatal test and abortion is significantly less expensive. Well, we'll see at the end of the year like we planned, if I haven't conceived by then.

Abortion plans

2006-08-10T08:18:00.000-09:00

I was just making up a recovery plan, in case the prenatal CVS test turns out positive and we have to terminate the pregnancy. I looked up the procedure, too. It also looks kind of discomforting, but not too bad I suppose. I would be aborting somewhere around 12 weeks probably, since the CVS is done just after 10 weeks, and it will probably take a week or two to get the results. They give you some pain medication, dialate you some, and stick a little vacuum tube/needle in there and suck it out. Well, I suppose I can imagine worse things. This of course is the least fun part of my pregnancy to plan, but I want to be prepared. I don't want to have to worry about this later, at the last minute.

I don't know if my doctor or hospital will do it, or if I'll have to go to an abortion clinic. I'll ask on my doctor's appointment today (just to check for infections, unfortunately not pregnancy related :( ). I researched abortion clinics in my area just in case my doctor or hospital doesn't perform them. I wanted information anyways, so I thought I might as well research the institutes at the same time. There seem to be 3 main ones around Seattle:

When I checked them out, Seattle Medical seems to be the best one. They seem nice, open, and caring, they have appointments available usually the same day or next day, and in general just look like the best choice. After I get pregnant, I'll go see them and fill out paperwork and get a list of things I'll need from my doctor in case the test turns out positive.

Well, I hope I don't have to do it though. Please be a healthy baby!!

Local spots

2006-07-27T15:57:00.000-09:00

Our genetic counselor finally got back to us and gave us info about 2 local places in our Seattle area that do PGD procedures. She highly recommended Overlake Reproductive Health, saying that they are the ones that do the most PGD procedures around here. She also said Seattle Reproductive Medicine is good, and that I could check there, too.

I checked out both online. Overlake just has one doctor doing his thing. Seattle Reproductive Medicine is a bigger institution, but they don't really specialize in PGD's. I might talk to Seattle Reproductive Medicine just to get information, but I'm pretty sure now that that one in Chicago, the Reproductive Genetics Institute, looks like the one to go with.

Insurance blurrence customer schmervice

2006-07-21T14:04:00.000-09:00

Gee...thanks for nothing. We emailed our insurance asking what exactly would be covered and what wouldn't be covered for the PGD-IVF procedure some time ago. Our email was very precise and detailed, and we stated that we had read through the coverage discription and wanted to confirm that such and such was covered, and asked about such and such because the coverage discription didn't specifically say anything about it. But all they did for their reply was copy and paste the whole coverage discription. Yeah, that was helpful.

So, to the best of my knowledge that I can gleam from the coverage discription, they should cover all the normal IVF type stuff, but they probably won't cover the PGD procedure, and they only will pay for egg freezer storage for one year, so if we want to keep it longer than that we'll have to pay for the next years ourselves. Roughly, I estimate that about 70% of our expenses will be covered by insurance, leaving 30% for us to pay out-of-pocket. (If anyone's interested, our insurance is Blue Cross.) I'm still waiting for replies to some other emails before I'll know approximatly how much the total cost would be.

Another spot

2006-07-18T08:33:00.000-09:00

I recieved a reply to my email to the Incontinentia Pigmenti International Foundation (ipif@ipif.org) asking for doctors/institutes info that do the PGD procedure. They recommended the Genesis Genetics Institute in Detroit. It looks like the institute is the process of launching a new website, so there's not much for me to check out now, without actually calling them. Maybe I'm silly, but I tend not to like companies without good websites... After thoroughly exploring the Reproductive Genetics Institute website last week and being pretty impressed, a "new website launch in progress" message kind of hits me the wrong way. But they are the recommended institute of the Incontinentia Pigmenti International Foundation, so maybe I should try to not be so internet-bound.

I replied to the Foundation, asking if they are also familiar with the Reproductive Genetics Institute, and what their opinion of it is. It sure looks a lot better to me...I also can't help thinking...Detroit? Yikes! I'd be worried about them stealing my eggs and organs there! It's not exactly famous for its safety and upstanding citizens. But anyways...

The director of the Incontinentia Pigmenti International Foundation, who replied to my email, also told me that she has a very informative newsletter that explains many different options for concieving a child, including PGD, and that she'll send it to me snail mail. I'm not sure what other options there could be besides what we've already explored, but, hey, that's probably what the newsletter's for, right? It's always nice to get more information, in any case.

The new plan

2006-07-15T14:34:00.000-09:00

After careful consideration, we've decided on a new plan. I've been thinking more and more about all those hormone drugs I would have to take, and thinking how bad that would be for the baby. Doctors say that the baby isn't harmed and turns out fine, but still...I know that can't be healthy. Also, we've found more discouraging statistics regarding IVF procedures (in vitro fertilization - the rest of the process, not specifically including PGD, of fertilizing and implanting the egg). Although the PGD genetic testing is very accurate (98-99%), the actual whole process that includes fertilizing and implanting the egg, and giving birth to a live baby, has relatively low success rates.

Many couples with fertility problems, but not any genetic diseases, do IVF's because they can't become pregnant naturally. So there is a lot of data available to look at since this procedure is relatively common. They say only around 60% of IVF procedures end in a baby being born. The other 40% do not implant or have miscarriages. This is very discouraging. However, I wonder a bit whether these statistics really apply to us, because IVF statistics come from mostly couples with fertility problems, whereas we don't have any fertility problems (at least that we know of), we only have the worry about passing on the genetic disease. We could probably become pregnant naturally without much trouble if we wanted to (although the baby might have IP), whereas other IVF couples often have multiple problems with the woman's cervix or eggs or the man has bad sperm or a low sperm count, or other problems like this.

That might be why the success rates listed for PGD/IVF combination procedures are much higher that IVF alone - because couples going for PGD often might not have any fertility problems, they might only be trying to avoid a genetic disease, like us, compared to IVF alone comples that are only doing IVF because of fertility problems.

Still, all of this really got me thinking. If all of this IVF procedure doesn't work for some reason, we'd be out a lot of money and time and health (they don't give refunds). And there's also the added worry of having so many drugs pumped into my system. We do have a 50% of having an unaffected baby. Perhaps my husband's idea of trying, at least once, is not such a bad idea. It's the same odds as flipping a coin. And if we got lucky, it would be so great. No drugs, no expenses (comparitivly), and all natural. Also, the 60% IVF success rate is not much better than our 50% anyways.

So, we talked about it, and our new plan is this: We're going to take our chances and try naturally once. If I get pregnant, we'll do the 1st trimester prenatal test for the disease. If it's positive, no matter what the sex, we will have an abortion. At that time, we will reevaluate our plan and decide whether we want to risk trying again, or go for the PGD. Although it was a hard decision for the girl, we just can't risk having a mentally retarded child. We'll try for the next 6 months. If I don't become pregnant, then my husband will do a sperm fertility check (since I already had an exam for me), and we'll reevaluate our plan and what to do then. In the mean time, since the PGD takes several months to setup, we'll continue doing our research and planning for it, just incase we're unlucky and the natural method doesn't turn out.

Genetic Counseling

2006-07-14T16:14:00.000-09:00

So, we had our genetic counseling appointment this morning. The counselor was actually helpful. She explained some details about some procedures that I didn't know. Like how exactly they do prenatal testing for the child (once you are already pregnant). Prenatal testing is often recommended even after a PGD procedure, just to be really sure.

There are 2 types of prenatal tests. One is done during the first trimester, during the 3rd month sometime, and the other in the 2nd trimester. I was really surprised that they can't test for the disease until the 3rd month! If we didn't do the PGD, that's a long time to be pregnant and not know if your baby will even survive or not! And then what if it comes up positive? Ouch. Also, both tests have a risk of miscarriage for just doing the test itself. Not much though, 1% for the first trimester, 0.5% for the second. But still, not a happy thought.

They insert a needle through the abdomen (ahhh....) and extract either some of the placenta (1st trimester) or some amnionic fluid (2nd trimester). Because the needle has to puncture through, it can cause contractions, which is where the risk of miscarriage comes in. Not a happy thought. I'm glad I'm planning all this before I get pregnant!

What I thought was strange was that our genetic counselor didn't mention the option of PGD until we asked about it. However, the first thing she said about it was that it was very expensive, so maybe she didn't mention it because she thought we couldn't afford it. (We were dressed a little scruffy today.) She said it usually costs from $10k - $20k, which was actually on the low end of what I expected. I don't have any official cost estimates from the Reproductive Genetics Institute yet, but I'll post them when I do. Once we asked her though, she explained a lot about it, but nothing I haven't already talked about. She wasn't really helpful in that department since I had already done so much reading about it.

She did say she would give us the contact info for a doctor who does the procedure here, so we can check him out too. I don't think it's very likely that we would go with him though. I want to be sure I go to a big institute where the procedure is routine, and where they have experience doing the genetic testing specifically for my disease, which I doubt we'll find with a soul doctor or a small practice.

All in all, I think it was a good visit though. I appreciated the explanations of the prenatal tests especially, and I feel so much more organized and together. My husband was really helpful too. It was so nice of him to come with me. He remembered a lot of our questions and made sure to ask them.

Strangely though, my husband's reaction to all the talk about the prenatal testing, and the fact that the genetic counselor didn't immediately recommend PGD, was totally opposite of mine. Now he thinks we shouldn't do PGD at all! He thinks we should just take our chances and have an abortion if the prenatal tests turn out positive!! This is totally incomprehensible to me! If I got anything out of that visit, it was that I only have 50% chance of having a healthy baby and no miscarriages, and almost 100% chance of having one with the PGD! And how could we just take the chance of having to have multiple abortions?! That's crazy! He thinks the genetic counselor made PGD sound really complicated and unnatural, whereas having miscarriages (natural abortions, he calls them) is a very natural thing and happens to women a lot of the time anyways.

I am just stunned at his response. Saying it's okay to "keep trying" and have abortions when the test is positive, and saying it's okay for me to have miscarriage after miscarriage after abortion after miscarriage to finally get our child is just totally wrong to me. And how about if it's positive and it's a girl? Girls with IP can be mentally retarded, that's true, but they can also be perfectly normal, like me. And there's no way to know which. How could I abort an IP girl who could be perfectly healthy? That's just wrong. But if I didn't, we could end up with a mentally retarded child.

So many problems and moral dilemmas. But with PGD there are none, or very little. How can he not see that? In any case, he's said we can still do the PGD if that's what I want. So that's still what we'll do.

The procedure

2006-07-13T16:47:00.000-09:00

Well, I've read over the procedure, and there seems to be just one scary part - the egg extraction. Eeeww... I was worried about that. I thought to myself, "Self, how are they going to get the eggs out of there? They must have to stick something in me to get them out!" And yep, I was right. They'll pump drugs into me intreveniously (Ei yi yi yi yi), so that I'll be in a "light sleep", but not totally out like general anethesia, then they send in, through my precious vagina, an ultrasonically guided big needle (well actually I don't know how big the needle is), and the needle goes THROUGH the vaginal wall and in to extract the eggs.

Ahhhhh!! Please no! That sounds most unpleasant! I don't even like to think about it. So let's not. But the rest of the procedure sounds pretty okay. The other part I don't like is having to take hormones. For the first step,

Ovulation Induction,

they give you some drugs so that you output a bunch of eggs at once, because multiple eggs are needed in order to ensure that enough disease-free eggs survive throughout the procedure to have at least one successfully implant for pregnancy. At first I thought that maybe we could just take it slow and just give them one egg per month, so I wouldn't have to take the drugs. But then when I think about the egg extraction procedure... eeee... nevermind! Give me the drugs! Also they give you hormones later to ensure that your uterus lining is thick for implantation. However, since I'm pretty young and healthy (I'm 24), I'm hoping I won't have to take those later hormones. I think many women that go through this procedure are older and might need extra stimulation. I'm really hoping I won't.

Step 2 I already talked about and won't go into that again -

2. Oocytes Aspiration (Egg extraction)

Step 3, oh here! My husband has to do something now! Isn't rather unfair, I have to go through so many procedures, nasty ones too, and finally when he has to do something, it's just so pleasurefull for him? Oh well, I'm still happy to be the one who gets to carry the baby inside me and help it grow.

3. Fertilization and culture of the embryo

Of course, they don't have to put a big needle into HIM and extract his sperm. He just provides it for them on call. I wish I could do the same for my eggs!! Culturing the embryo just means letting it grow. They let it grow to 4-8 cells large before step 4.

4. Polar Body Removal/Blastomere Biopsy

This is when they remove one of the cells from the embryo for testing. It doesn't hurt the embryo to remove it at this stage, because the cells are all alike and it'll just keep making more cells until it has enough. For the Polar Body case, they actually remove only part of the egg (before step 3) and just test the egg. This also doesn't hurt the egg. The Polar Body can only be done for diseases the mother has, obviously.

5. Genetic testing (of the embryo)

6. Embryo transfer and implantation

They put in back into me. Luckily, unlike taking the egg out, this procedure is very easy. They say it only takes a few minutes, no drugs or anethesia is used, and they say it doesn't feel any more uncomfortable than a pap smear. Good news to me. Only thing is, they usually put in more that one embryo, in case one doesn't want to implant for some reason. If they both implant, you'll get twins.

So, that's the procedure. And voila! I'll be pregnant! But not with twins I hope... just one at a time please.

Found one spot

2006-07-12T16:28:00.000-09:00

I emailed the centre that did my genetic test asking for recommendations for institutes that do PGD (preimplantation genetic diagnosis) for IP (Incontinentia Pigmenti), and they recommended one called Reproductive Genetics Institute, which is based out of Chicago and has centres world-wide. Apparently I made a false assumption, because the places that do general testing for the disease and the places that can do PGD for the disease are not the same places. So that idea about having to go to the U.K. or Italy is out! Which is good! Chicago at least sounds a little closer and cheaper.

I checked out their website, and it looks pretty impressive. Apparently they are one of, if not THE, world leader in the PGD (preimplantation genetic diagnosis) field. I was also pleasantly surprised to find that my rare disease was actually on their list of diseases that they regularly screen embryos for! I've been googling around many other companies' websites that do PGD's and had found them really lacking in information. Reproductive Genetics Institute however had tons of info, including detailed PDF info packets about specific procedures, a nice video touring the institute, and some short patient testimonials.

I'm still waiting to hear back from the Incontinentia Pigmenti International Foundation, whom I also emailed asking for PGD centre recommendations, so we won't make a decision yet about whether to choose this institute or not. But this one looks pretty good.

Organizing

2006-07-12T16:09:00.000-09:00

OK. Now that we decided to do the preimplantation genetic diagnosis procedure (I'm going to start calling this PGD), we've got to get things organized. There's a lot to think about. I already had my prepregnancy checkup with my ob/gyn before I got my IP (Incontinentia Pigmenti) test, so that's taken care of (I'm in perfect health, she says). I guess the first thing we need to do is:

Meet with a genetic counselor.

My ob/gyn, before she abandoned me for Hawaii, said that if the test turned out positive, I should meet with a genetic counselor. Isn't it kind of amazing that there actually exists a person called "The Genetic Counselor"? Sounds kind of Star Trekky. Actually, I've done so much research on my disease and procedures now myself, I don't know what the counselor can tell me that we don't already know. However, it still seems like a good idea. My ob/gyn's office gave me a referral for one, so I'll call and set up an appointment.

The next big thing is:

2. Find a doctor/clinic/hospital/centre that does PGD's for my rare disease.

This could be difficult. There are only 3 centres in the world that even do testing for it, and I know the one in the U.S. doesn't do the procedure. I asked when I did my test. That probably means we will have to travel to the U.K. or Italy for the procedure. I doubt insurance will cover travel expenses. Speaking of insurance,

3. Figure out exactly what insurance will cover and what we'll have to pay.

We've got 100% in-network infertility coverage, and 80% out-of-network, so we're probably in pretty good shape, but better check.

And #4:

4. Read in detail about the procedure so I know what to expect.

Doubts

2006-07-12T15:35:00.000-09:00

I keep having so many worries and doubts about doing the preimplantation genetic diagnosis procedure. Not about its success necessarily, but about its necessity. I guess since there isn't much wrong with me, I have a hard time picturing myself having a baby with all those problems. There's so much we don't know about medicine. And genetics is such a new field. What if this disease is just part of our natural evolution somehow? What if the disease can have some good sideeffects in girls that they haven't realized? I'm not sure exactly what I mean.

I read somewhere that about 50% of a woman's eggs that get fertilized in the womb have some sort of chromosomal abnormality, or something wrong with it, that makes the body naturally abort it during the first month before the woman ever even knew she was pregnant. If that's true, then perhaps my body can naturally filter out my eggs that carry the disease. With my disease, Incontinentia Pigmenti, only 50% of my eggs carry the genetic disorder. The others are normal. Maybe I don't need this preimplantation genetic diagnosis procedure. Maybe my body can just take care of it naturally! But my mother's body obviously didn't filter out me, yet I turned out fine...

But what kind of risk would I be taking there? I can't keep second guessing everything like that. I have to work with the medical knowledge we have at this time, even if it is limited. What I know right now, according to modern science, is that the disease is dangerous, and 50% of my eggs carry it. I think it is my responsibility as a future mother to do everything I can to prevent passing it on to my children. Therefore, scary as it is, I will do the preimplantation genetic diagnosis procedure.

I'm positive

2006-07-11T17:52:00.000-09:00

I got my test. It's positive. I'm positive. I've got incontinentia pigmenti. Wow. I cried a lot today. But, at least I know now. Now we can go about getting ready for the preimplantation genetic diagnosis procedure. I still feel very emotional though. I don't like the thought of more doctors and hospitals and drugs and needles...

The thought that scares me the most is that somehow they have to extract my eggs, to test them. And somehow they have to put them back in. Eeee... I don't know how they're going to do that, but I'm sure it's not pleasant...

On this same day that I found out that I'm positive, I also found out that my ob/gyn, which I felt really comfortable with and had chosen through a lot of careful and long research, went to Hawaii and decided not to come back. So now I would have to go to a different ob/gyn. Also today, I found out I have a bad urinary tract infection, again, and this medicine they gave me is making me so drowsy I can hardly do anything.

It's been a bad day today. But, on the bright side, at least I can start planning and finally get my baby now.

Waiting and waiting...

2006-06-20T17:40:00.000-09:00

Where is my test?? Why hasn't it come? It's been over 2 months now, it was only supposed to take a max of 6 weeks. I just want to know either way. Even if it was positive at least then I could start planning. Positive or negative? Natural or preimplantation genetic diagnosis?

The testing lab emailed me back about the preimplantation genetic diagnosis procedure saying that they don't do it there. They only do blood tests and prenatal tests. They gave me the email of their genetic counselor, saying if I needed it, she could help me. If they don't do it, that must mean that I have to go to the U.K. or Italy. They were the only other places that even did the testing for this, never mind the egg screening. That would be expensive, I doubt insurace would cover the travel expenses.

I think I'm going to call the lab soon and check on the test. It shouldn't be taking so long...

The way to freedom from IP

2006-05-01T17:11:00.000-09:00

While I was reading some more about IP (Incontinentia Pigmenti), I came across the term "Preimplantation Genetic Diagnosis". They were explaining that now, since the gene for IP had been discovered, it was now possible to screen a woman's eggs for that gene and select one without the disease, avoiding the problem before it starts! Wow! I hadn't heard about this before. I started googling various things and discovered the amazing world of modern genetics. Sex selection was really possible, it wasn't just in science fiction. And there were so many diseases that they had discovered ways to screen out! Price tags are quite high, but when we got our insurance we purposefully got a plan with 100% infertility coverage as well as 100% maternity coverage, just in case I had this disease. I didn't see any exact prices quotes, but the range seems to be from a couple thousand to $50,000.

I sent an email to my testing centre, asking about the procedure, just in case. If I don't have to worry about IP (Incontinentia Pigmenti), then I don't really have a preference for the gender. We want to have two children, one of each gender. Choosing hair colour, eye colour, etc, seems to still be science fiction, but it is amazing how far science has come, to be able to screen out diseases and select gender in this day and age. It might be good just to test for everything they can test for, just in case. However, insurance probably wouldn't pay for "unwarranted" tests. People really do freeze eggs too sometimes. I had heard about it on the news, but never really realized it was truly possible. It would be an interesting procedure, as a science geek I can't help but be a little interested in going through it myself, however I'd still prefer the natural way.

The test

2006-04-17T16:48:00.000-09:00

Okay, I'm going to do it. I've got to know, so I've got to go. IP (I'm going to call it that from now on since typing Incontinentia Pigmenti is getting a bit tiresome) is such a rare disease that there are only 3 centres in the world that test for it! I found them through the Incontinentia Pigmenti International Foundation, which I found through Google. Only one of those 3 is in the U.S., where I am, so I'll do the testing through there. If you're curious, the others are in the U.K. and Italy.

Luckily I don't have to physically go to the centre myself, which would be quite inconvenient since I live in Seattle and the centre is in Texas, I just have to send my blood sample there. Any doctor can take the sample. So, after contacting the centre and getting the paperwork, I went to my ob/gyn and they sent me to their lab for the extraction (ewww...).

I hate having blood drawn. I'm okay with shots, something going in, but I really don't like them taking things out... One of my friends who's pregnant though has warned me that you have to give LOTS of blood samples once I become pregnant... not the part of pregnancy I'm most looking forward to. I didn't look. When I asked the nurse, "It's not very much blood, right?" She said, "Well,..." I quickly interrupted her, "Just tell me it's not please!" Oh great. I still don't know how much they took out... but I survived in any case. :)

My doctor's lab took care of the actually sending and everything of the sample to the centre in Texas. The test cost about $500 and takes 4-6 weeks, but luckily our insurance covered it :) . Now I just have to wait... and I should do some more research and figure out if there's anything I can do if it turns out positive, which please please I hope it won't.

The disease

2006-03-01T16:16:00.000-09:00

I've found all the info I want about the disease, and now have a pretty clear idea of the risks and problems that Incontinentia Pigmenti can cause. NEMO, the gene containing the mutation that causes Incontinentia Pigmenti, is located on the X-chromosome, which if you remember your biology is the one that makes females females. Girls have two X's (XX), and boys have one X & one Y (XY). If you have one bad X that carries Incontinentia Pigmenti, and one good X, then the good X can partially compensate for the bad X, fill in the gaps, and you might be able to be pretty normal (like me), or if it doesn't compensate, then you will have that big list of problems. However, if you are a boy and you only have one X chromosome, and that X is an Incontinentia Pigmenti - carrying bad X, then there's no other X there to compensate for you, and you will die.

Incontinentia Pigmenti is a lethal disease in males, because they have no other X to cover for them. This of course is scary news to me, if I want to have a boy, but I'll continue my tale... So boys with the disease die. Either as a miscarriage in the womb, or shortly after birth. This is partially good news however, because that means that there are no fathers with the disease! Including my own father! So I cannot have more that one bad X. I have one good X and one bad X (if I test positive). Since a mother only passes on one X her child (he/she gets the other sex chromosome from the father), then I have a 50/50 chance of not passing on the disease and having a healthy baby. That's pretty good news!

On the not so bright side, I could pass on the disease to my daughter, and she might not be as lucky as me. Indeed, as I look through the lists of effects of the disease, they don't look pretty. However, things have improved in the last 20 years since my birth and the list isn't as long as it once was. Most of the possible effects are slight physical malformations like not as many teeth as normal, not as much hair, possible eye problems,but nothing too serious. The one big thing on that list is nervous system disfunction that causes mental retardation. Mental retardation - that's the scariest thing in the world for me. Any mother would be scared at that prospect.

I really hope I test negative, but if I test positive, I REALLY REALLY hope that there is a way to prevent this disease.

I can get an answer

2006-02-01T15:44:00.000-09:00

To my relief, I found an answer to my first query - I CAN find out if I really have this disease! I'm very lucky too, because it was only six years ago, in 2000, that scientists discovered and completely sequenced the gene, which they call NEMO (located on the X-chromosome), that causes Incontinentia Pigmenti. So, I can send in some blood for a DNA test and they can tell me if I need to worry about this or not. Unfortunately, only 80% of people who have Incontinentia Pigmenti have this specific gene mutation, so they warn that even if you test negative it doesn't necessary mean that you're free of it.

The thought of a less than 99.999999% accuracy rate in any of your own medical diagnosis is always upsetting... however at least I could have some peace of mind now. If I tested negative I might really not have it, but then again, I might be in the 20% without that specific gene mutation. In either case, if I'm not testing positive for anything, then there is no way to avoid the unknown, right? They don't have any way to test that other 20%, and so there is still nothing more I could do but go about concieving our child naturally. And if I tested positive...well, I need to do some more research to see what I can do about it in that case.

But before I get tested, there're still some things I want to know. I need to answer my remaining questions: What are my chances of having a normal child if I do have it, and what kinds of problems can this disease cause? And,

If I test positive, is there anything I can do to increase my chances of having a healthy baby and not passing it on?

Can I just concieve naturally, or do I really have a problem?

2006-01-01T15:07:00.000-09:00

When I was born in 1981, I was diagnosed with a rare genetic disease - Incontinentia Pigmenti. I had black whirl marks on my skin. The doctors said I wouldn't have hair, I would be blind, I didn't have permenent teeth, I would be deaf, I would be mentally retarded, the list goes on and on. Pretty much anything that could go wrong would be wrong, they said.

Well, my permenent teeth suddenly appeared on my xrays shortly after birth, it became obvious that I could hear, my hair grew to be one of the thickest heads of hair on the planet, and I gained admission to the Gifted & Talented programs in my elementary school, getting top grades. Did I really have this Incontinentia Pigmenti?

Once I hit puberty, I got my period and everything just like the other girls, and my parents and I never thought anymore about this supposed disorder that I obviously didn't have. That is, until I got married and became ready to have children of my own.

Then again I asked the question, what if I do have it? What if my children aren't as lucky as I am? What if they do suffer all those horrible problems the doctors said I would get?

So, I did some research. I googled Incontinentia Pigmenti to see what I could find. The things I wanted to find out were:

Was there anyway to know for sure whether I really have this disease or not?
If I have it, what are the risks for having a baby with a disability or having a miscarriage?
What kind of problems can this disease cause? Is it the same as what the doctors told my parents 20 years ago, or have they made new discoveries about it?