Until my third month everything was going just perfect. Nobody had even the smallest clue that something was wrong until first sign put my parents in alarm mode:
My legs could not completely extend (Arthrogryposis?).
We went to doctors and after some preliminary investigations (neurologist, orthopedic, medical imaging) where done the suspected diagnostic was: Artogryposis. Actually more joints seemed to be some how gripped but the most sever problem was with my legs.
We started physical therapy (massage, water therapy) and in a couple of weeks I completely recover my mobility in all my joints. However the doctor neurologist that was seeing me had concerns regarding my muscular tonus and some other aspects seen as alarms in a clinical examination. Maybe it is because my articulations where gripped and the muscles where not used or it is a neuromuscular problem? He sent us to do some tests to verify if there is a muscular problem:
It is Muscular or Neuromuscular problem?
The neurologist doctor that was seeing me sent me for a set of tests to identify the cause of this problem:
- First tests where for LDH (lactate dehydrogenase) and CPK (creatine phosphokinase). The values from the results where a little bit over the normal values, however not alarming. It was anyway an indication that we had to search in another place. The probability for a muscular dystrophy is now smaller.
- The next one was an EMG (electromyogram) test. The EMG helps to distinguish between muscle conditions in which the problem begins in the muscle and muscle weakness due to nerve disorders. The test result was the path was neurological possible.
- A biopsy probe deltoid muscle was taken from me, and I waited for 2 weeks for the results to be available. And the result was not good....not good at all. The diagnostic written there it was Spinal Muscular Atrophy - Werdning Hoffman.
- I could not believe that the diagnostic is for me so I made another test. The genetic test for the Exon 7 and 8 of the SMN 1 gene. The result came after another 2 weeks and was not doing anything else but to confirm the diagnostic above: It is a "homozygous deletion of the exons 7 & 8 of SMN 1 (LOCUS 5q 12.2-q13)." i.e. Spinal Muscular Atrophy type 5q with early onset.
All the doctors we are speaking with give me no more than 24 months to live, because there is NO cure for Spinal Muscular Atrophy. The only things that can be done for me is physical therapy to keep my physical condition as long as possible (2 years).
I created this web log with the hopes that:
- Somebody that already knows how to cure this disease will read this and will let me know what needs to be done.
- To serve as help for other people that are fighting with the same disease