I need Help, I want to Live!
Hello, my name is David, I’m from Portugal (Viseu).
I have only 6 years old, and I have a very rare disease, Sanfilippo Disease ( Mucopolysaccharidosis type IIIB )!
I am a single case of such disease in Portugal.
|David at 2008 carnival|| |
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It all began in October 2007, i was barely 3 years old when my doctor sent me to the Hospital Pediatrico of Coimbra, at the Metabolic Diseases Unit of the Centre for Development of the Child. When the test arrived, the worst was confirmed. Immediately it was said to my parents that this disease had no cure or treatment.
It was a SCHOCK for everyone!!
My parents did not resign and began to search and they discovered that in France, Lyon, there was a clinical trial in Edouard Herriot Hospital, of a medicine ( Zavesca® miglustat), in patients suffering from Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome. This treatement may slow the progression of of my illness .
My parents took me there, and we came with hight hopes! The doctor confirmed to me the disease, in a initial phase, which is very good for me, anyway. We were given all the information about the clinical trial, which ended up in February / March 2008. This treatment was extremely expensive, 14.000.00eur month.
A huge wave of solidarity was formed, and many people mobilized to recover funds for the possible treatment.
A HUGE THANKS TO EVERYONE!
Unfortunately, when the test results are out, the worst happens, the drug did not have enough positive results to be approved for my disease!! We didn't know what to do, we haved to find another solution, we will not give up!
It is very important to me to block the progression of my disease, I want to live!!
We have been informed that in the United States there are studies being prepared, of the injection of the enzyme that fails me, at the spinal cord, and we hope clinical trials for 2010/2015. This could be a real treatment for my disease.
We also discovered that in Paris, clinical trials of gene therapy are being prepared for Sanfilippo IIIB. Also in Naples a preclinical study for gene therapy is underway. These projects aims to evaluate the ability of intracranial injections of viral particles modified to be safe and to provide the lacking enzyme, to correct the brain pathology.
In Poland, a clinical trial is underway to evaluate the effects of genistein in reducing the accumulation of GAGs (cellular substances that are not degraded to the absence of the protein).
There are many people who works to fight this disease! For me it is extremely important not to lose hope!
I NEED YOUR HELP!
Words, gestures, actions... if you know ohters studies or therapeuticals advances, please contact us!
Help me not to lose hope, and believe that I could just LIVE!!
Thank you Very Much,