The Verdict is In...Sort of

I received an email from Dr. S this afternoon. She had the results of the genetic testing for SDS.  All three kids tested negative for the gene and mutations they have found thus far. So, what does this mean?  Well, as she put it, "This does not mean they do not have SDS.  At least one of your children presents with all the signs and symptoms of SDS to make a clinical diagnosis."  She explained when we were there in August that so many children who have all the symptoms never test positive for the gene.  Genetics on this disease is so brand new and they have less than 10 mutations so there is still plenty of genetic work to be done.  Cystic Fibrosis, the 'sister' disease if you will to SDS has over 1000 mutations that have been discovered over years of study and research. 

She would like us to return to Seattle for additional testing on the mitochondria  DNA sequence and 10 color flow cytometry as well as bone marrow biopsies.  Of course we will go.  I don't want to go but she feels like we need to rule out other bone marrow failure diseases and get a handle on things.  I asked if we could do the same testing here with our Oncologist under her direction but she said these tests are very difficult and specialized so Seattle would be better equipped to handle the situation.  Oh...big sigh.

This is a mixed bag.  I'm sure there are many who think I should be relieved but really these results mean nothing. She still believes they have some mutated form of SDS plus another disease that has been undiagnosed.  Now, we are hunting mitochondrial disease.  Just when you think things can't get any worse...it's no better than having SDS.  There is a growing group of children with SDS symptoms, negative SBDS gene and Mitochondrial disease as a secondary diagnosis, meaning, they are really sick kids!! I don't want this to be us! There is no treatment for mitochondrial disease.  The mitochondria is like scaffolding in each cell that converts protein to energy.  In mitochondrial disease, the scaffolding begins collapsing and nothing can be done to stop it.  It can cause neurological problems, bone marrow failure, chronic fatigue, and GI problems.  Really, it can affect every part of your body.

I just have to get the approval of the 'wasband' to move forward with this testing and we'll be off.  That could prove to be the hardest part of it all...sigh.  Well, it's going to take me a few days to digest this all, let it settle and prepare for a longer hospital stay than I wanted, in a city I am not familiar with.  I don't know yet what will be involved in tests but I know the gold standard for diagnosing mito disease is to take out a portion of the muscle from the leg or arm.  I have been told it is extremely painful and recovery is long. 

In the meantime, I have to focus on my kids.  Everyday, they ask if I have heard from Dr. S.  I couldn't lie.  The boys seem okay but Shelbie is really discouraged.  She cried and cried because she just wants someone to figure out what's wrong.  She wants a name, a plan, a cure.  We all want that.  I want that but that isn't what we are going to get.  Not yet at least.