- Current Age:
- Home State:
- Diagnosis Date:
- October 22, 2014
- MPS/Sanfilippo Type:
- MPS III-A
- Josh and Lisa
What it felt like when we learned our child has Sanfilippo Syndrome…
When Luke was diagnosed with Sanfilippo Syndrome, it was like our life was put into a fog. It’s still hard to comprehend and even think about what his/our future might hold. When he was first diagnosed a clinical trial was awaiting FDA approval. So at least we had hope. I think that helped us deal with the diagnosis a little, and also put us into a bit of denial. Although he did manage to get into the trial, unfortunately on August 12th 2016 the trial was terminated. They found it to be ineffective. That day was like having Luke diagnosed all over again. Only this time without the hope. We were completely devastated. We remain hopeful and work hard to spread awareness and raise funding to ensure more clinical trial options come along. We do not want to think of a life without hope, or without Luke.
WHAT OUR CHILD LOVES MOST IS…
Luke LOVES being outside! He loves to run around and ride his bike. He is unable to use the pedals, but that doesn’t stop him but from pushing off the ground with his feet. Luke and his little brother love racing their bikes down the hill in our backyard. When he can’t be outside he loves coloring and watching cartoons. He especially loves Disney Junior and How to Train Your Dragon. He loves to watch the characters ride the dragons and flying horses on TV. He jumps up and down and happily screams to show his excitement.
How has Sanfilippo affected our child?
Due to Sanfilippo Luke is mostly nonverbal. He also has mild to moderate hearing loss most likely due to multiple ear infections we never knew he had. Not only is he not able to communicate when he is in pain, he also has a high pain tolerance. He has developmental delays and is hyperactive. He is constantly going and does not understand safety or consequences. For these reasons he requires constant supervision.
How has Sanfilippo affected our entire family?
Our entire family is affected by Luke’s condition. Where we can go and what we can do is limited because Luke needs constant supervision and so does his younger brother. There are very few places we can safely go with only one adult, and we miss out on things because of this.
The hardest part of being a Sanfilippo parent is …
The hardest part of being a parent of a child with Sanfilippo is not knowing what the future holds. There are so many big questions with no answers. When, if, and how will he start to regress? Will we lose him? How long will he live? Will they find a cure? Will it come in time to save his life? What will his life be like if he is saved?
If we could ask just one thing from the world/people, it would be …
Please share our story and tell the world about Sanfilippo Syndrome. The more people who know it exists, the better chance of finding a cure in time.
Why are we asking you to donate to Cure Sanfilippo Foundation?
We are living in an age with incredible advances in science. A cure is actually possible! It just takes money to research it, test it, and administer it. Sanfilippo is a rare terminal disease, where time is critical. For this reason the money needs to come from people like us.