- Current Age:
- Home State:
- Diagnosis Date:
- August 16, 2013
- MPS/Sanfilippo Type:
- Type A
- Matt and Deanna
- Joseph and Addison
What it felt like when we learned our child has Sanfilippo Syndrome…
When we first learned that Seth had Sanfilippo Syndrome we didn’t know much about it so we reached out to learn as much as possible from the genetic doctor giving us the diagnosis. Once we learned probably more than we wanted to know at the time, it was literally like losing Seth, the child we had all the hopes and dreams for in the future. Then we had to learn that we had this new child in his place that wound never be able to do those things we once hoped he would do. It was devastating.
How has Sanfilippo affected our child?
Sanfilippo has definitely affected Seth. It has robbed him of normal hearing and eye sight, the ability to keep up physically and mentally with other children his age and his older siblings. The one thing it has not taken from Seth is his joy and his ability to bring happiness to others.
How has Sanfilippo affected our entire family?
Because of Sanfilippo we have gone from a family of 5 to a family of 3 and 2. My husband and I have to take turns staying with Seth when our older two children want to do things that Seth can’t do or is socially unaccepted to do. For example, Seth loves Disney movies but he isn’t able to go to a movie theatre, 1. Because he gets frightened by the dark, loud room and 2. Because he often stands to jump and make loud noises which is not very socially accepted when people are trying to watch a movie. Seth doesn’t do this to bother people of course, he needs to jump occasionally and make noise in order to meet his sensory needs because of what Sanfilippo is doing to his body. Seth has an enlarged liver and spleen and has difficulty digesting foods. This disease has taken his cognitive ability to use the bathroom, therefore he continues to need to wear pullups. Most importantly, one day, without a cure, Sanfilippo will take away our sweet, very loved little baby boy!
The hardest part of being a Sanfilippo parent is …
Picking up and bearing that cross every waking morning. The emotional rollercoaster. There are so many ups and downs. I can be happy, sad, angry, exhausted, loving, hateful, full of joy and resentment all in one day’s time! It’s exhausting but I wouldn’t trade a second of time with Seth because at this point to wish for him cured is to wish for him dead. We need a cure!
The biggest misconception people have about being a Sanfilippo parent is …
I’m the strongest person they know. But in reality, I’m capable of crumbling at any moment!
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
To live with and interact with a child with Sanfilippo Syndrome is like getting a glimpse at what it must have been like to be with Jesus. All this child knows is pure Love. He has never purposely made a choice to sin. To receive a hug from him feels like receiving a hug from heaven. I know not everyone who reads this is a believer of God but I’m telling you there is something much more powerful in these kids. Just being Seth’s mom has made me a much better person.
If we could ask just one thing from the world/people, it would be …
Share our story to bring awareness, donate to help fund a cure and pray for us to make it through each day!
Why are we asking you to donate to Cure Sanfilippo Foundation?
We don’t ask to just find a cure for Seth. Even if the cure isn’t found in time to cure him, if it is found soon it can prevent many children and families the heartache and struggles of living life with Sanfilippo. Every kid deserves a chance at life and your donation could give a child just that!