Hello to everyone!! I'm new in this company , my name is George Kottis - age 33 and i'm so happy found people with the same symptoms like mine , cause i had started to believe i'm the only person in earth have these problems :)) In 2003 i've diagnosed Addison's disease but doctors here in Greece told me i could be ok with the use of cortisone and i coulr run again and play soccer and live a normal life without any other problems...But i've continued to getting tired very easy , to have instability , weakness on my legs and many many other problems...So i've decided to send a sample of blood to Kennedy Krieger Institute to find finally what is the problem with me and performed test about "Full sequencing of the coding regions og the ABCD1 gene". I have the results but i don't know if u can understand with these medical expressions...
So the results are exactly:
Position Normal Patient
Nt1054 C A
and after that the interpretation:
Nt1054C-->A (A223D): Not a previously reported ABCD1 mutation or polymorphism. A223 is not completely conserved across species, but is conserved across higher species. The clinical significance of this sequence variation is not known. Genetic counseling is recommended. There was no evidence of a deletion of the coding region of ABCD1 in this patient,but Southern blot may detect deletion of the 5' or 3' regions or may detect a gene rearrangement. These molecular results should be evaluated in conjuction with test sensitivity and the patient's clinical presentation.
I had also sent sample of blood with my parents and my sister to count the C22:0,C24:0,C26:0 and the ratio's of them but i don't want to getting tired you with numbers, i have the results if these are necessary for you to help me...
I would like to read your opinions, i know you are not doctors, and i'm here to discuss your troubles cause i understand we have the same difficulties in this life...
Sincerely, your friend, George