PGD and Fragile X

As I mentioned before, I wanted to take the time to go over reproductive options for FXS carriers.  I've already gone over one, and that is to "take your chances" so to speak as my husband and I have done.  Another option (though fairly costly) is what is called Preimplantation Genetic Diagnosis or PGD for short.

PGD is performed in conjunction with IVF, but with the added step of analyzing the eggs or embryos for genetic abnormalities before implantation occurs.  This can mean that no embryos with Fragile X would even be implanted and thus makes the risk of passing Fragile X to your children pretty low, most PGD clinics give around 90-95% success rate in referring to how effective it is in removing the genetic issue you have requested.

It is important to note that Fragile X is  certainly not the only genetic condition that is combated with PGD.  Tay Sachs, cystic fibrosis, muscular dystrophy, and spinal muscular atrophy are some of the other single-gene disorders covered.  Also growing, are the amount of people requesting gender selection via PGD

Unfortunately, the cost of PGD is still very high.  Most clinics have different pricing, but it seems the national averages I found range around $17-$22k per cycle with somewhere around a 32-42% success rate.  More insurance companies (at least in the US) are beginning to cover if you have a family history of genetic disorders but it is usually a bit of a fight and certainly does not cover the entire amount.

I hope this information is useful to someone looking into options as far as having children goes.  It certainly is not an easy decision and with PGD thrown into the mix money is most certainly a factor as well.  I'd love to hear from someone who has pursed or gone through PGD and post your story here for some more insight but have yet to run across a family or person who has actually gone through the process - please feel free to contact me if you would like to share your story!

Now that I've gone over the second option for carriers - I will be covering the other two options in my next post tomorrow and following up with a guest post on Friday about another family's decision in regards to reproduction.

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Decisions Pt. 2

As I talked about in my last post, Mr Awesome and I decided early on in our marriage to conceive naturally and "take our chances" with the FX mutation.  Ideally, I should have been tested before we started trying for Ayden.  I know Mr Awesome urged me to quite often, but for whatever reasons I didn't. 

When I was pregnant (still in the first trimester) we had me tested and went through genetic counseling.  The genetic counseling was kind of a joke.  We had a counselor who had never heard of Fragile X even before meeting us, so she couldn't really even answer questions we had very well.  It was discouraging to say the least and left us pretty freaked out.  She basically didn't understand that FX was a spectrum disorder, so acted like it was an on/off switch when you hit 200 CGG repeats as to whether you would be totally mentally impaired or not.

The couple days after our appointment were not good ones for us.  Termination was never an option, but we were both scared.  I felt guilty because I hadn't gotten tested earlier even though Mr Awesome had urged me too many times.  Mr Awesome was angry, and I couldn't blame him really.  I knew his anger was a lot because he was surprised by what the genetics counselor said and also because he too was scared.  We certainly weren't sure how we could handle something like what was described to us.  Our emotions calmed down though, and we knew we were in this together no matter what.  I think we both realized that blaming wouldn't help anyone, and made a plan for what we could do right then - including finding a pediatrician knowledgeable about Fragile X.

You can read Ayden's Story to learn more about after he was born...I won't go into it here again.  What I do know is I wouldn't change a thing.  Ayden is so amazing, and sure he has his quirks but they make him our Ayden whom we are so blessed to have.

The decision was a little easier when we decided to have Issac.  I'm actually not even sure we discussed FX at all, just having another baby in general.  We certainly didn't know the full extent of Ayden's FX by that point in time, but I'm not sure that would have changed much either.  My pregnancy was definitely difficult in the aspect that Ayden's major frustrations and screaming started while I was pregnant.  I remember feeling like I was failing him and just very helpless as to what was happening.  Until we had early intervention come in, we really felt it was all behavioral, afterwards it was easier. Issac was born during this time.

We had pretty much decided by this time that we might have another child, but not more than one.  I didn't have baby fever around Issac's first birthday like I did with Ayden.   I also wanted to make sure that Issac started talking, I was always so scared he wouldn't.  (Of course I can't STOP him now!).  Mr Awesome and I had begun talking about another baby and eventually decided we would rather have them closer together as we planned before.  Two years apart seemed good to us (and still does!).  So we began trying again, only to lose a baby due to an ectopic pregnancy.  Then Ayden was diagnosed. 

We discussed PGD while we were at the FX clinic for Ayden.  There were some statements made to us that were...unsettling....that we had to deal with and PGD came up during that.  It was a lot to process, but we never discussed PGD again after that really.  Essentially, between the cost ($9k-$18k for one round, not covered by insurance) and chance of multiples...it wasn't the right decision for us.  There are processes in which they only implant one fertilized egg at a time, but it is more expensive to do it that way and could take more attempts than normal.  I'll have a separate post discussing PGD later, as it is one of the options for FX carriers

So, now we have Baby Car on the way.  (Did I mention Issac named baby....I think it's sticking too, at least until he has a name).  We're very well aware of the chances of having another FX child.  We will not be doing any prenatal screening, but will be testing baby at birth.  The test won't tell us much, but it will give us the chance to get early intervention for even a slight delay.  If I really think about it, it's scary. If the past four years have taught me anything though, it's to take it a day at a time.  I don't know what the future holds for us...who can? I'm just enjoying life, enjoying this new life growing, and enjoying my beautiful, wonderful family.

I'll be putting together more about carrier reproductive options at a later date, but if you're curious now you can always visit the NFXF web page about reproductive options as well.

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