The results of the gene test that we sent out while we were in the hospital 2 weeks ago came back today. Dr. Mantovani gave us a call and Chris and I listened intently on the couch with the speaker phone on. Here is what he had to say...
The Good - We have a confirmed diagnosis.
The Bad - Ryan's diagnosis is SMA type 1 and his prognosis remains unchanged.
The Ugly - This may change things for our family dramatically. Chris and I both must be carriers of this disease and therefore all of our children have/had a 25% chance of acquiring it. The rest of the "ugly" news is that this disease has 4 different types, categorized by age of onset. Type 1 - infancy, Type 2 - 6 months to age 18 months, Type 3 - 18 months through adolescence, Type 4 - age 35 years. With these different "types" the problem of muscle weakness occurs. Many times in the course of events, we have questioned Charlotte's well-being and whether or not this is something she could have. The answer right now is, yes... but a simple blood test can tell us for sure. All this time, we were thinking she was in the clear but the reality is that she may not be. This is something completely independent of her "cerebellar hypoplasia" as that is not a specific characteristic of this disease. There is always the possibility that her hypoplasia and SMA are linked in a way they have not discovered, but that is speculation at best.
Chris did some math and here is what he came up with... In the information we read, 1/40 people are a carrier of the disease, which gives you a 2.5% chance of being a carrier. The chance that 2 carriers would meet, marry and have children is 0.0625%. Then, the chance that those 2 carriers would have a child with SMA is 0.01563%. So, 1/40 people sounds like a lot, but when the math is done, the rarity of this disease is remarkable and we have beat the odds in a way we never imagined.
Tonight, we are still trying to let this unexpected news sink in. Many of our physicians didn't think that Ryan would have SMA because of the unknown answers with Charlotte, it made more sense to chalk up his problems with hers. Lightening (a genetic disorder) doesn't usually strike twice, but for our family, it has. And the tables are now reversed also with the concern that Charlotte may have SMA too.
We are being forced to let our "denial" go down the drain and address the reality in front of us. We have a lot of questions we are hoping to ask the specialist, Dr. Connolly. As we discussed what our options may be for Ryan tonight, the one thing that we still feel very strongly about is having Ryan's best interest in mind, not our selfish desire to keep him here, stuck in a life that no one would choose to live. We will be open to learning more about options for him, but our decisions will be based on that. We will not let this disease define him.
For more info:
http://www.smasupport.com/laymen_version.htm - after reading this description of SMA type 1, we felt that it described Ryan's symptoms exactly.