How fitting that I posted about the rain of sickness upon us, that today amongst the clouds we found our silver lining. Today, we saw our geneticist and she had some pretty exciting news for us. We had previously discussed Whole Exome Sequencing with her earlier this year, but since it was still fairly new, most insurances weren’t yet picking up the cost for it. At a mere $8,000 I can’t believe we didn’t just do it anyway! -__- *sarcasm* Who has an extra $8,000 lying around for a test like that?! Anything we had in savings has certainly been used in 17 months of caring for Braxton and his countless doctors appointments. At this point, she also explained that Blue Cross Blue Shield basically considers genetic testing as “experimental,” I don’t see how any thing that could help determine need of future healthcare costs could be considered “experimental,” but that’s beside the point, when she previously discussed it with us, it was out of the question.
I should back up a moment and explain a little about just why this test is so important. This is in my own way of understanding the test and in no way totally scientific. Whole Exome Sequencing is a way of testing specific regions of DNA that we know the functions of. There are some 22,000 genes in our body and at this time researchers only really know what about 5,000 of them do and/or specifically control. Exome sequencing breaks those 5,000 genes down into regions and can tell what region controls or affects different parts of the body. For example, researchers know the specific gene sequence that signals if there is a defect on the 21st chromosome in our body which signifies Down Syndrome. Because Down Syndrome is now so well known and studied exome sequencing is not necessary to detect it, but for other syndromes that are rare or still unknown (like DS was previously) Exome Sequencing is excellent in telling doctors and researchers exactly what part of a person’s DNA is different. This could then tell doctors exactly what gene has a defect and what that particular gene controls. This in turn could help prepare parent expectations as for prognosis in their child’s life. If there is a gene defect that controls motor movement a parent would then know motor skills like crawling and walking need extra help and attention. It is also possible to have a hybrid of syndromes. A child could have signs and symptoms of two different syndromes and not fit into either of them perfectly, exome sequencing could tell doctors exactly what two syndromes are at work and help formulate a better plan for the future. This is WAY oversimplified, but it’s what makes sense to me and hopefully to you. You can check out this link for more – Exome Sequencing (Wiki) here is some info from one of the companies who performs the test – Ambry Genetics Exome Sequencing From my understanding, there is also Whole Genome Sequencing which actually tests all 22,000 genes as opposed to only the 5,000 that we know. Talk about information overload! Braxton has already had all other tests that are lower cost that could potentially give us answers, they were all returned as normal. The two isolated genes our dr had tested also came back normal. Continuing to grasp at straws and test one gene at a time is time consuming and incredibly expensive. Far more expensive than doing this more all inclusive test now and getting it over with.
I understand, that although this would tell us what gene has a mutation on it, it may still not answer our questions. If it turns out to be a rare disorder we may have no numbers to go off of, no prognosis, no expectations, but at least we’d have a cause and a name. Technology is ever evolving and in time we’d know more, so to know NOW the root of the problem is extremely beneficial. The test would also help us to determine if it is some random genetic mutation or if all future children could have this issue. Stop right there grandmas! There are NO new babies on the way now or in the near future!!! hahaha But, it’s something we need to know so that if way, way, way, way, in the future we decide to have more children we’ll know their chances of having the same syndrome. The results also wouldn’t necessarily change our plan of action with regard to therapy. It’s obvious that whatever syndrome it is, it is causing developmental delay in all areas so all the therapies we have in place are still necessary. It could however offer answers as to WHY the delay is there and could potentially help our therapists better address the issue. Bottom line, this test is what Braxton NEEDS right now. If Braxton is accepted in to the NIH program we told you about earlier, they would do either the genome or exome test as part of their research. NIH is still reviewing Braxton’s records and it will be quite some time before we find out if he is accepted for that program. Buuut…..
Back to the good news. 🙂 We may NOT have to wait for NIH! Our geneticist told us today that she felt we’d exhausted enough testing and she recommended we move forward with the Whole Exome Sequencing. She said some insurances are picking up the cost of exome sequencing as long as prior authorization is obtained first! Although they told us previously about BCBS and genetic testing, (surely we can’t be the only ones with BCBS) they assured us that no one they have submitted has been flat out denied. The biggest problem has been out-of-pocket expenses on the family. Thankfully, we are near the end of the year and our deductible has been met, as well as our out-of-pocket maximum, so with a little luck, if Blue Cross approves our pre-auth within the next 2 weeks, it is possible we will have our blood drawn and sent off before the end of the year! Hopefully, if there is still an out-of-pocket cost it won’t be too much so that we can have this test done and finally get the answers we need. Such an amazing silver-lining. Even amidst the storm God reminds us that He’s here….