- Current Age:
- Home State:
- Diagnosis Date:
- March 2008
- MPS/Sanfilippo Type:
- MPS III-B
- Roger and Susan
SEE BLAIR’s FRIEND LUKE, HIS INCREDIBLE SONG FOR HER, and STORY HERE:
What it felt like when we learned our child has Sanfilippo Syndrome…
After years of misdiagnoses, it was confirmed that Blair’s skin biopsy results were positive for MPS III-B. That day we lost the child we thought we had. It was emotionally overwhelming and very confusing for us to receive the official diagnosis of Sanfilippo Syndrome.
We were shocked that our daughter who had just learned to ride a bike and loved to run and swim could possibly have this horrible disease, and would soon be unable to talk and walk.
What our child loves this most is…
Blair’s favorite activity is to watch Barney videos! She also LOVES music. Blair likes riding horses, books, riding on the boat and being in the water. She loves animals and especially her dog Henri. Being surrounded by her family and friends during the holidays fills her with happiness.
How has Sanfilippo affected our child?
It has taken her ability to talk, walk, and care for herself. She has developed seizures and dystonia which make it difficult to get through the day comfortably.
How has Sanfilippo affected our entire family?
Our family is very limited in what we can do. We live on a tight schedule and plan everything around what is best for Blair. Constant adaptation to Blair’s ever-changing needs has become a staple in our day-to-day life.
The hardest part of being a Sanfilippo parent is …
Balancing being a parent to other children and a good spouse and friend with being a caregiver for a child with multiple medical needs who is 100% reliant on you. It’s difficult to accept the disease and it’s inevitable regression instead of putting extra pressure on yourself or thinking you could have done something differently.
Why are we asking you to donate to Cure Sanfilippo Foundation?
No parent should have to hear that there is no treatment available for his or her child. There is promising research and all that is lacking are the funds.