Hi Everyone,

 

Are you guys as glad as I that the holidays are almost over?  A regular schedule seems very appealing right now...

 

I wanted to let you all know Chelsi had her long awaited appointment with Dr. Russell Sonaeto at Children's Hospital yesterday.  It took 10 months to get in to see him...but well worth the wait!  He is a neurologist, specializing in Mitochondrial diseases.  Chelsi's been under suspicion to have some sort of Mitochondrial disorder, but all of her tests have turned out negative.  To make a long story short, there are 100's of mito disorders....ranging from very mild, to the worst of the worst.  Actually diagnosing one is very difficult.  I'll try to explain what little I know, but basically, every living cell in our body has mitochondria....these are the powerhouses of our bodies and give our cells the ability to reproduce.  There are hundreds of things that can go wrong.  To make a long story short, Chelsi probably has one....with a name about 7 words long that he didn't write down and I can't remember.  To diagnose her, the next time she is sick, we have to take a 1st morning urine sample it to get tested for certain proteins that would only be present when her system is taxed with a virus, or something....then that will be combined with an MRI, a skin graft and some other stuff.  The good news is that the treatment is vitamin and mineral supplements...coQ10, vit C, vit E and Riboflavin.  She'll start on this immediately, and if it helps, that will also aid in her diagnosis.,.the result being her cognitive abilities should greatly increase and seizures decrease.  She'll also probably go on growth hormones, since she's such a shorty.

 

Love to all for a wonderful New Year.  Ours is starting out very hopeful!

Sue