Your donation to the Cure Sanfilippo Foundation will get these kids one step closer accessing the cure.
What if you were told your young child was dying? What if you were then told a medication to stop the disease’s progression existed, but there wasn’t enough funding to produce it? These “what if’s” are the nightmare-ish reality of all families whose children have been diagnosed with Sanfilippo Syndrome and their lives are devastated!
I know Abigail as the sweetest little 4 year old, with the most amazing red curly hair. Her parents, Jen and Mike Means, know her as their long awaited answer to prayers. Jen and Mike struggled through infertility for 8 long years. In December of 2010, their prayers were answered when the smiling face above, Abigail Sarai, made her debut into this world at 34 weeks gestation.
“…that was the beginning of a nightmarish journey that has changed my life forever.” – Fight For Abigail Blog
Sanfillippo Syndrome is a genetic disorder occurring in only 1 in every 70,000 births. For a child to have Sanfillippo Syndrome, both parents must be carriers of the disease. Children with Sanfillippo disease have a metabolism dysfunction and are unable to break down used sugar molecules as those without the disease are. These molecules build up over time causing a slow regression to death.
According to the Cure Sanfilippo Foundation, “Children with Sanfilippo Syndrome typically do not show signs of this devastating disease until 2-6 years of age. The disease is working on them from the time of conception. However, it takes time for the body and brain to accumulate enough waste material to begin to cause symptoms like hyperactivity, speech delay, autism, recurrent ear/sinus infections. Children then begin to lose the skills they used to have- talking, walking, eating. Most children develop seizures and painful movement disorders before they pass away. Typical life expectancy for the most rapidly progressive form of Sanfilippo Syndrome (Type A) is in the mid-teens.”
.A cure for Sanfillippo Syndrome is real. A gene therapy treatment stopping the disease in mice has been discovered. Researchers believe this will offer a cure. Stopping the progression is huge when dealing with a disease like Sanfilippo! However, as exciting as this is, it is unable to save children if it isn’t produced. With Sanfilippo affecting only 1 in 70,000 children, pharmaceutical companies are not committed to a treatment for it. The funding is simply not there to manufacture it.
” We don’t know if the treatment can repair any damage already done, but we certainly have HOPE that it will stop the disease. This is a first in human trial so much more will be known when the treatment is actually administered in children. That is why we are in a race against time.” Glenn O’Neill, President and Founder of the Cure Sanfillippo Foundation.
The disease is building in these children every second! As for Abigail, her mom shares, “Abigail has good days and bad days. It is very sad for me to watch her regress. She forgets what she once loved. She gets confused and that breaks my heart. I keep praying that God will heal her, but I know He has a plan.” The progression of this disease is painful. Abigail will mentally and physically regress until death unless the cure is manufactured in time for her.