- Current Age:
- Home State:
- Diagnosis Date:
- March 15, 2015
- MPS/Sanfilippo Type:
- MPS III-B
- Tim and Valerie
- Samantha (unafflicted, carrier)
What it felt like when we learned our child has Sanfilippo Syndrome…
I remember waiting all day for the call from our pediatrician to tell us the results of Will’s MPS test, only to miss it when I went out to get Will off of the school bus as he returned home from the developmental preschool he was enrolled in due to his “autism” diagnosis. As I waited for the doctor to call back, I watched my perfect boy playing joyfully in his sandbox and my heart knew that I was watching him with innocent eyes for the last time. When the call came that confirmed my suspicions, my world completely shattered. I numbed my heart while we went through the motions of the rest of the day. Only after putting our children to bed did I allow myself to fall on the ground in agony. We sobbed, the type of sob that wracks your entire body, and I remember repeating over and over again, “We were so happy. How could this happen? We were so happy.”
As we learned to live with our broken hearts, we found that the diagnosis also gave us an odd sense of relief. We knew now that our instincts weren’t wrong and that autism had been a misdiagnosis. Knowing the name of the beast that was trying to steal our son gave us a rallying point and a focus. We now had a mission: to work to save Will and every other child afflicted with this terrible disease.
How has Sanfilippo affected our child?
Although Will is still verbal and mobile, he has significant developmental delays and we have noted subtle changes in his behavior and attention. His hyperactivity and impulsivity directly affect his ability to focus or concentrate. Physically, Will has been diagnosed with moderate hearing loss and he also experiences some joint stiffness and body fatigue.
How has Sanfilippo affected our entire family?
It is difficult, if not impossible to imagine being part of a special needs family – until you are. We have had to reformat our entire lives to fit Will’s needs. Our home, our outings, our finances… everything is now chosen based on what Will can handle and in what situations we can handle Will safely. Further, although Will’s participation in a clinical trial is more of a blessing than we can state, the constant need for Valerie and Will to travel away from Tim and Samantha does take its toll. Valerie has had to put her career on hold, we must find regular childcare for Samantha, and, frankly, it’s not easy to travel on a plane with a Sanfilippo child! But it has become our new normal and we will do anything to give Will a chance at a better life.
The hardest part of being a Sanfilippo parent is …
At first glance, Will doesn’t look different from other children and sometimes that makes it difficult for uniformed observers to understand his behaviors. It is difficult to explain to strangers why your 6 year old can’t carry on a complex conversation, why his little sister is surpassing him in development, or why we constantly have to hold his hand to prevent him from taking off on a dead run! We consistently have to remind ourselves (and sometimes others) that Will’s behaviors are not a reflection of our parenting, but of the toll his disease takes. Thankfully, we have a very supportive network of friends and family that understand Will’s diagnosis and the challenges that we face. Their support and acceptance means the world to us!
The biggest misconception people have about being a Sanfilippo parent is …
People think we are strong and fearless. But in reality, we are scared beyond words. We are scared every day that our beautiful son will be taken away from us. But we have chosen to channel that fear into action and not allow it to paralyze us. The best way we can help our son and other children like him is to turn our fear into motivation to help us fight.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
Sanfilippo Syndrome is not as rare as it appears. It is estimated that 1 in every 133 people is a carrier of one of the forms of Sanfilippo Syndrome. People may not be afflicted, but they are unknowingly passing this gene onto their children and grandchildren. Sanfilippo may not directly affect you right now, but in the future, it very well could affect someone you know and love.
If we could ask just one thing from the world/people, it would be …
Take a moment and imagine that you knew you would outlive your child with no realistic hope for the alternative. That is the harsh reality that Sanfilippo parents live with every day. Think about what you would do in our situation. Then do it. Join us. Join our fight. Because all children deserve a chance at life.
Why are we asking you to donate to Cure Sanfilippo Foundation?
Rare disease receives very little attention and funding. Without the actions of parent-led organizations, many of the clinical trials that are occurring wouldn’t be possible. However, the current trials are just that…trials. They are chances, but they are not guarantees. We hope they work, but if they don’t, we need the next thing to be ready. Because we cannot stop fighting until EVERY CHILD suffering from this disease can say, “I USED to have Sanfilippo Syndrome.”