- Current Age:
- Home State:
- Diagnosis Date:
- September 09, 2016
- MPS/Sanfilippo Type:
- MPS III-A
- Alli and Nate
What it felt like when we learned our child has Sanfilippo Syndrome…
We were shocked and devastated. We never expected to hear that our son has an incurable neurological disorder and that he may not live past his teens. It felt like we were having a bad dream. We’d had genetic testing done to determine the cause of his hearing loss, and never ever did we think we’d get this news, which has turned our world upside down.
Thinking about the future, our new reality, and also about having more children, has been the hardest. But we’re focusing on one day at a time and everything we can do to help Spencer right now. We’re trying to stay positive and live in the moment, with the hope that someday soon, researchers will find a cure for Sanfilippo.
WHAT OUR CHILD LOVES MOST IS…
Spencer just loves LIFE! He’s a social butterfly who loves to be on the go, and loves making friends with dogs and puppies wherever we are. Spending time with friends and family is one of his favorite things to do, as well as smiling and laughing! Spencer also loves being outside. He enjoys playing in his sandbox, going down slides, swinging, playing with his toy golf set and little basketball hoop, bouncing in bouncy houses and going on walks in his wagon or car with his Mommy and Daddy.
How has Sanfilippo affected our child?
Spencer is still progressing. However, his speech and motor skills are slightly delayed. He was diagnosed with some hearing loss in June 2016, which we think is related to Sanfilippo. He wears hearing aids, but is otherwise a happy, normal 2-year-old. We dread the day when we start to see him regress.
How has Sanfilippo affected our entire family?
It has rocked our world. Since Spencer is our first child, it’s making us think hard about whether we want to have more children. Alli has taken a leave of absence from her teaching job, so she can devote all of her time and attention to Spencer and make sure he’s getting what he needs. But we’re learning to live in the moment and enjoy each day we have together; we have a new appreciation for life, one that parents who’re not living with this may never experience or understand, and we’re grateful for this.
The hardest part of being a Sanfilippo parent is …
The hardest part is grasping the new reality of Spencer’s life. We try not to go to that place often, but it’s very upsetting to think about his future, since it’s likely to be dramatically different from his peers’. He may never get his driver’s license, graduate from college, or have a family, and these realities are the hardest things to stomach.
It’s also difficult because we feel at such a loss in terms of what we can do to help Spencer. Of course we’re making sure he gets to all of his appointments and does different therapies, like speech, PT, OT and hippotherapy, but besides this, it’s heartbreaking that we can’t fix his biggest problem. Our job as parents is to protect our kids, to make the hard, sad and painful parts of life better, basically to do anything and everything we can to help our children, and it’s both frustrating and upsetting that we can’t do this for him right now, given the fact that there is no treatment for Sanfilippo.
Finally, it’s hard to be a Sanfilippo parent, because there aren’t that many of us. Our friends have been very supportive and empathetic, but they’ll never completely understand all we’re dealing with, experiencing, and feeling.
The biggest misconception people have about being a Sanfilippo parent is …
People tell us that God did this for a reason, that we were dealt these cards because we’re strong parents who can handle adversity. But in reality, even though we appear strong on the outside, it’s still very difficult. Yes, we’re doing our best and doing everything we can for Spencer, but we don’t want people to pity or feel sorry for us. Instead, we’d love for them to make us feel normal and to help us raise awareness and support us in this fight.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
It’s an extremely progressive disease and time is not on our side. Children with Sanfilippo deserve to live long and happy lives, but many are running out of time. Some treatments are on the horizon that could change the landscape of the disease and save our kids. We need all the help we can get right now, for science and the future of all children.
If we could ask just one thing from the world/people, it would be …
Please join us in raising awareness about Sanfilippo. Our kids can’t wait any longer for a cure. We need your help!
Why are we asking you to donate to Cure Sanfilippo Foundation?
Big drug companies typically don’t invest in rare diseases like Sanfilippo. But there are scientists and academic physicians around the world who are working to find a cure. They can’t get clinical trials up and running without outside money—and it takes a lot of money. That’s where the Sanfilippo community of families and their friends come in. The critical work on the promising therapies that are being tried today were funded by family foundations like Cure SFF. We are honored to partner with them. Thank you for helping us find a cure.