Thursday, August 4, 2011

New news

June and July have been weird months.  We got back the blood test results from May.  Lily more than likely has Mitochondrial Disease (Mito) and Familial Mediterranean Fever Disease (FMF).  FMF is a very rare genetic disease.  It is generally found in ethnic Jews and people from the Mediterranean area.  Lily obviously doesn't fit that catagory.  My mothers family is mid-Western and Mike's family is from the south.  I had never heard of either disease before the appointment with Dr. Boles.

Needless to say, it's been a learning and transforming month and a half.  Lily fits the description of Mito and FMF and JA.  One of the physical symptoms in Mito and FMF is joint pain and arthritis.  It is hard to say or know for sure if one is the dominant disease etc... It will take a while to figure out what is the best course of treatment.  Ironically, the research and knowledge is really in Isreal. 

FMF and Mito are just 2 more rare, odd diseases to have doctors question.  Lily is my kid,  no health issue is textbook or common. 

So, from here it's a waiting game.  Waiting to see more concrete tests/symptoms and finding the best team of doctors to properly care for her.  I can't imagine living 4 more years of unknowns, misdiagnosis and pain for Lily.  ***update..Lily tested POSITIVE for FMF***

To date, Lily has:  exteneded Pauciarticular Juvenile Idiopatchic Arthritis, Cyclic Vomiting Syndrome, Severe Carnitine Definincy, Mitochondrial Disease and Familiar Mediterranean Fever Disease.  That's a lot for an almost 4 year old girl.  I think as time goes on, some may not be accurate and one of the diseases will be prominant.  Time will tell, that's what I keep telling myself.