It has been awhile since I had any news to share with you about Sammy. The last time I shared anything I think was when he had his sedated CT Scan. The scan had come back clean and no CP or any other abnormalities had been found. His brain and entire spine had been scanned. The next step, then, was to do some blood work. It took awhile to get it done and then receive the results as it was a fairly complex test that had to be done. Last week we received a phone call that has taken us one step closer to the bottom of this crazy mystery: Sammy has a variant in his mitochondrial DNA of unknown significance. What in the world does that mean?!
Well, we do not know, exactly, but what we do know at this time is that his mitochondrial DNA has an abnormal sequence and it just may be the cause of the physical symptoms that Sammy experiences: fatigue, tremors, muscle spasms, etc... Our next step is to see a geneticist and have more blood work done and then possibly a muscle biopsy. Mitochondrial disease can have a wide range of severity and if this is what Sammy is dealing with, it is extremely mild. Sammy runs, plays, walks (albeit with an adorable pigeon toed gait), and is highly intelligent. In some children it is far more severe and even life-threatening.
The neurologist gave me the website for the United Mitochondrial Disease Foundation. Again, we are not 100% certain that this is what Sammy has, exactly, but it gives some excellent information on the disease and the varying factors. Some individuals have mitochondrial variances and it is actually so rare that there is no known name for it. Just like with Down Syndrome: there is Trisomy 21 and then you can have a Mosaic form of it.
In the meantime we are going to give Sammy some natural supplements per the neurologist's suggestion and see if that helps with his stamina and strength. I am also trying to get him into the same geneticist that Dima sees at Shands in Gainesville. If we are fortunate enough, the geneticist may be able to see Sammy in October.
Here are some pictures and videos from our adventures in St. Petersburg:
|Sammy & Dima waiting on the neurologist to come in. They were playing on the iPad and having a swell time together. Brothers forever!!|
Would you please continue to uplift Sammy in prayer? Pray that we get into the geneticist in a timely manner and that he would be able to help us get as close to the bottom of this as we are able? And as school begins next week please pray for strength and stamina for Sammy. That he would adjust to the school schedule and get good nights of sleep and rest. Thank you!