- Current Age:
- Home State:
- Diagnosis Date:
- June, 2016
- MPS/Sanfilippo Type:
- MPS III-A
- Sam and Brittany
- Baby Zion (arriving in August)
What it felt like when we learned our child has Sanfilippo Syndrome…
This is all so new to us. About three months ago we were referred to a geneticist because our insurance company wouldn’t approve this genetic lung test our pulmonologist ordered. He found through a urine sample that her body wasn’t producing an enzyme. I will never forget the day he called me at work and the only thing I heard was that: she has been diagnosed with MPS III Type A. I was receiving the terrifying news we prayed to God for a miracle for. In an instant this devastation became our life shattering reality. All I could think about was that there were kids dying from this and I’ve never even heard of it before today. It was impossible not to feel hopeless, as I had just entered into my third trimester with our unborn son not knowing if he was a victim from this awful thing. We were devastated and began to live each day as if it were our last with our little two year old “buttercup”.
WHAT OUR CHILD LOVES THE MOST IS…
…To be FREE to RUN! She gets so much joy in being chased by daddy. She loves any human interaction really. She lights up when music comes on and she makes everyone in the room get up and dance, 100% participation! She loves Mickey Mouse but not as much as when daddy sings the theme song to her. She LOVES water and could splash in her pool all day long! She just loves to laugh and loves it when anyone laughs around her. Her joy is so contagious she can make everyone smile when she walks in the room!
How has Sanfilippo affected our child?
Being that Sawyer is so, young she hasn’t experienced the debilitating symptoms of Sanfilippo. But can I tell you this: without a cure our full-of-life little girl has no future. That is what she is facing. Right now, she’s carefree, she’s still learning, she’s still growing, she’s still fighting, but one day she will have to face the reality that her body will not allow her to fight any longer and her life will be cut short. This disease has taken everything from us.
How has Sanfilippo affected our entire family?
We are still awaiting our insurance to cover the genetic blood test to determine which gene carries Sanfilippo in Sawyer. Sam & I still aren’t sure if we are carriers or if it was a random mutation. As far as baby brother Zion, we have no idea what the future holds for him. It has caused fear, doubt, and bitterness. Sanfilippo has tried to take away our faith in God but through Sawyer we are reminded of His love for us by giving us such a sweet girl even if it’s for a few short years.
The hardest part of being a Sanfilippo parent is …
No one in our community has ever heard of this life threatening disease. Every time we tell people they reassure us that with modern technology there will soon be a cure before Sawyer loses her abilities. It’s naive because without awareness and donations to fund research these are just empty, cold words. It’s hard to relate to other parents when their biggest concerns are potty training and giving them a balanced diet. We have a hard time not comparing and we find it difficult to be able to relate to most people our age. It’s been hard adjusting our thoughts to dreaming about what Sawyer will become and enjoying her as she is now.
The biggest misconception people have about about being a Sanfilippo parent is…
Sympathy is unwanted. In reality, we just want people to fight with us to stand in the gap for those that can’t.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
Sanfilippo touches every aspect of our lives. It’s always there. There’s no daydreaming about the future or making plans for things to come. It’s all about living in the now and loving each other more deeply each day. Without a cure that’s all we can live for.
If we could ask just one thing from the world/people, it would be …
We beg you, don’t live in ignorance. We can’t afford you to. Our kids’ lives depend on you. Would you stand with us and raise the awareness we need, the donations that will fund a cure to give Sawyer and kids like her hope for the future? Can you be empowered to fighting this battle with us and being our strength to make it through the really tough, no good days?
Why are we asking you to donate to Cure Sanfilippo Foundation?
If you don’t we’ll lose our daughter and potentially our son, and we aren’t prepared to unpack that and live in that reality.