Sunday, April 29, 2007

Meeting Irene & stopping SMA

....Well, here I am in Texas to meet Irene, the girl or the angel, that gives me and my parents hope and strength to fight with SMA. I'm also here to ask all the peoples that helped her to be victorious over her SMA to also help me in the same way so that I will also be able to walk (soon).

I have been traveling 15 hours with 2 airplanes and I was such a good child all this time, more over I was "The Star" of the airplane, everybody was stopping over my seat and was talking with me, smiled at me, and guess what, I was also talking back and smile even with Texan accent... nobody had any clue that I wasn't actually travel for a holiday, I was traveling to search for a cure ... I told them all about me and I asked them to pray for me.

Now the day that I was waiting finally came! My dear Dr. Croley will use his Total Repro Bioresonance to reprogram my body so that the missing gene and enzymes will be compensated and so the evolution of the disease will be stopped. It sounds very "science fiction", however after the first treatment it seems that I started to slowly move my legs, I am coughing stronger , and I am holding small objects in my hand for a longer period of time than before. So definitely something positive happened for me. I'm now praying for this progresses to continue.

So many beautiful things happened on this day! One of the most beautiful one was that Irene and her parents came to see us (300 miles away) at doctor clinic. It was a vibrant moment! I was seeing the beautiful Irene, full of life and energy, standing in her own feet , drawing, talking, laughing and this gives me power to fight because I know now that someone already beat the SMA monster. Now I only have to use the same weapons and strategy and I can be victorious too. And I pray to be victorious too, because in this case it will not be only about me and Irene it will be a living proof for all the desperate parents that are searching for a way to heal their precious babies diagnosed with SMA.

Maybe I am now over optimistic and maybe a little bit dreamy but I need this positive attitude from me and from everybody that loves me and want me to keep the smile on my face.

Love y'all ;)

AAA

Saturday, April 14, 2007

My story

...My story starts on 13 September 2006 in Bucharest, the place where I first time saw the beautiful and kind face of my mami, the light of the sun, the joy of my father (because he wanted me so much) and of all the people that where waiting for my arrival.


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.
Is there a cure available?
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:
  1. Somebody that already knows how to cure this disease will read this and will let me know what needs to be done.
  2. To serve as help for other people that are fighting with the same disease
Although I have people that loves me and that are looking (night and day) for a way to heal me, I know that even if they will not succeed, because they are so small, God is looking at me and He will make possible for me to live a beautiful and rich life even this will be short here on earth...

AAA