Genetics Appointment

Today was another one of those big appointments where you hold your breath, hoping for good news and some prediction of the future. One of those where you really wish you had a crystal ball to know what to plan for but also glad you don't have one because you're afraid of what the future may hold.

This appointment was a follow up from Beans' appointment in May. The bloodwork from that appointment showed he was a chromosome deletion (7q35 for those who it makes sense to - which really isn't me :P) and bloodwork on Little Man showed he doesn't have it. The geneticist seems pretty darn sure they both have a genetic disorder causing their medical and developmental issues. They were really hoping Little Man would show the same deletion as it would explain everything, but since it didn't we're left with three possibilities. Either they have two separate genetic disorders causing many similar symptoms (highly unlikely), they both have the same disorder plus Beans has the deletion causing his extra symptoms, or Beans' deletion is just a red herring and means nothing in their overall diagnosis.

After reviewing the whole family history, prior bloodwork, developmental histories and a very thorough physical exam of both boys we're looking at two likely causes. The most likely is an x-linked genetic disorder. This means that it's something that I passed onto them. Since it's x-linked I wouldn't show symptoms but any boys I have would have a 50-100% chance of having the disorder. :( :( :( If it is an x-linked genetic disorder this also means my sisters would have between a 0-50% chance of any sons they have also having the disorder. There are many, many x-linked genetic disorders and there is a center in Greenville, SC that the geneticist will be discussing the boys with. The good news with this one is that very few of them are degenerative and if, at some time in the future, I do end up having a girl she would be unaffected.

The other possible cause is something metabolic. The doctor ordered tons of labs - blood work and urine - to check for something in this category. The likelihood of any of my siblings' children being affected would vary greatly depending on what they find. Those results will take around a month.

What we do know is that both boys have significant developmental delays, hypotonia and hyperextensible, multiple medical problems, neurological problems and a connective tissue disorder. What the future holds we really aren't any closer to finding out but really, really hope that we'll get the answer to what genetic disorder they are dealing with to have a better idea of treatments and prognosis. It's very hard to accept that I am the likely cause of their issues. After trying for years to do everything possible to help these kids, it's probable that my genes are the cause of it all. Obviously that will take time to accept and deal with.