Local spots

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

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

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

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

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

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,

1. 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

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

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:

1. 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

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

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.