Please buy a glass of Purple Lemonade to help Eliza and her friends.
Eliza was recently diagnosed with a rare genetic disease called Sanfilippo Syndrome Type. Like most people, we had never heard of it.
Children with this disorder (MPS III) are missing an enzyme which is essential in breaking down certain sugar molecules. The result has grave health consequences with life expectancy in the early teens, sometimes less. Gradually a child will lose the capacity for speech, walking, swallowing, and ultimately the loss of vital organ functions.
There is no cure, nor is there any treatment to slow the condition. It is a parent’s worst nightmare and an unfair sentence for any innocent child. We are crushed and have been dealing as best we can with the shock and emotion of all of this.
There are research teams who are making significant breakthroughs in Sanfilippo Syndrome research, including a gene therapy from Nationwide Children's Hospital that has been successful in animal testing. They are so close. More testing and trials are necessary, but the rarity of this syndrome (1 in 70,000) makes it a challenge for researchers to get adequate funding.
The clock is ticking for Eliza. Every minute her cells are being damaged. Our only hope is that we can raise enough awareness of Sanfilippo Syndrome and funding to aid researchers, in their quest for a cure.