Our baby tested positive for CHARGE Syndrome. A relief, because I now know what was wrong and can continue to test to know the cause. The bad news is, this is the first time this "genetic spelling" has been found. In the world. Yes, that's right. My baby's genetic spelling of the CHD7 gene found on chromosome 8 is the first of its kind. So there's no information about it. This makes me feel special in a real twisted world...
They ordered blood tests for me and my husband to find out if one of us is positive for a mutation of the CHD7 gene. If neither of us test positive, and this was just a random event, (which is what they are inclined to), then we are allowed to start trying on my next cycle after we get the results back. If either one of us is positive, this could indicate that the first missed miscarriage is somehow related to the second pregnancy. They then would suggest Preimplantation Genetics Diagnosis (PGD), as 50% of our offsprings could potentially be positive for CHARGE. I had my blood drawn today, but unfortunately my husband won't be able to fly to the States for a while because of work. The results will take 4-6 weeks for each test just like they did with our baby. They also did a genetic panel testing on me to figure out if I test positive for other recessive diseases that might explain my missed miscarriage other than "bad luck". I did hear the "might be just bad luck" a couple of times today, but a doctor also said "good luck was long overdue". I was comforted and agreed.
If this was just a random case of mutation, then our odds for this happening again are less than 3%. The same doctor explained how 1% statistically means so little, but to those of us part of the 1%, especially those of us who repeatedly are members of that group, the 1% is so traumatic that it means an awful lot. I myself can write a book about the heartache that comes with being a hopefully not permanent member of the 1% club.
The PGD would take about a year. There is no known test for a mutation of the CHD7 gene to be performed on the few cells taken from an embryo, so they would have to create a special test for our family. This is possible and has been done for other families. I can only imagine how expensive this would be. I promise to do my best and not think about all of this; we'll cross that bridge if we get there. (First attempt at staying positive...)
They suggested blood work on day 3 and a hysteroscopy between days 5-12 of the cycle 6 weeks from now, just to make sure everything's OK with me and there's nothing in there that could harm a future baby. This is only for my peace of mind and I can choose to not have it done, since it would mean me traveling to Boston again in January. Right now I think that whatever is suggested I should do, if only to not be forever wondering "what if I had done this or that test"...
I stopped at the gift shop and bought a couple of things for a Christmas tree I might never put up... But this elf reminded me so much of my beautiful boy, I just had to have it.
Here's to positivity during my waiting game...
Oh sweets... I don't know what to say. At least you got some answers, although now there is more testing and perhaps more questions to be answered. But you have a little bit of direction on what to do next so I hope that's helpful. I'm so sorry they didn't know more about A's particular "spelling" but maybe, if it turns out it is "random" it won't matter so much that it is different from other "spellings." Keeping you in my thoughts as you wait for your testing to come back. Hugs....
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