- Current Age:
- Home State:
- Diagnosis Date:
- May 11, 2016
- MPS/Sanfilippo Type:
- Samir and Jen
What it felt like when we learned our child has Sanfilippo Syndrome…
When we found out that Carter had Sanfilippo syndrome it was a very surreal situation. We were about to fly home from a trip to Disneyworld when I received a call from our geneticist. I knew it wasn’t going to be good news as they had told us not to expect results until late June early July 2016. I remember the moment very clearly when our doctor told us… it was very similar to when they let us know that Carter has chronic pancreatitis due to a rare gene mutation on his CTRC gene which no one has seen or knows what to do with. This time was a bit different though… with the sanfilippo diagnosis, we all knew the outcome and it’s not good.
We were scared, angry, worried, and had many questions. Is there a cure? How would this new diagnosis affect Carter? How soon would we start to see him regress? As soon as I asked our doctor if there was a cure and he replied, “I’m sorry no there’s not, not at this time.” My heart broke. I wanted to just throw my phone across the airport, curl into a ball and cry. How could our sweet, funny, loving, vivacious little boy have this horrible disease? How is there no cure and nothing we can do to help him?!
As a parent, you feel completely helpless and like a total failure. Our job is to protect our children from harm and shelter them from how cold and cruel this world can be. How could I not have known something like this could even exist and that both my husband and I were carriers nevertheless. I personally felt like I put him in harms way by not knowing this information.
My husband and I probably spoke only a handful of times during that five hour flight home as our minds were trying to grasp all of this new information and honestly, we did not know what to say to one another. What could we say, “It’s going to be ok”? We both knew that would be a lie. We have no idea if it’s going to be ok! What we do know is that Carter is strong; Stronger than anyone we know. He is a fighter and deserves a healthy, long, wonderful life filled with adventure, joy, and lots of laughter. As his parents, we will do everything in our power to make sure that we do whatever we can to help him. We will see to it that what he deserves becomes a reality and will not stop until there is a cure.
How has Sanfilippo affected our child?
At this time, we are unsure how sanfilippo has affected Carter. We knew that he had speech and language delays along with delays with physical therapy and occupation therapy but we thought it was all due to his other underlying condition. Only time will tell if sanfilippo is to blame for these delays or if it is his gene CRTC mutation.
How has Sanfilippo affected our entire family?
Having a child with Sanfilippo has made our six year old daughter Sophia have to grow up a little faster than we’d like. She has had to learn to put others needs before hers at times but she does it with such kindness and poise. She is her bother’s best friend and biggest cheerleader. She finds such happiness in the little victories Carter has and celebrates them louder and prouder that anyone. Surprisingly, we feel like Sanfilippo has strengthened our family. We are making sure we do more dinners with our whole family, movie and game nights, and to just spend more time together in general. We are not going to lie and say everything is all rainbows and sunshine because clearly it is not. We have our good days and our bad days but we try not to dwell on the bad.
The hardest part of being a Sanfilippo parent is …
It is challenging to hold back tears and clear the lump in our throat when people ask how Carter is doing. It’s difficult when we have to tell them about his new diagnosis and then go on to describe what this all means for him and how it will affect both his quality and quantity of life. When they ask if there is a cure and having to watch their face when we say no, that is quite burdensome. Even though those things are hard, I find the most challenging and hardest part of being a Sanfilippo parent is trying not to worry about if your child has regressed at all on a daily basis. How is he feeling today? Will today be a good or bad day? Is he in any pain? Will today will be the day he won’t be able to string words together and say the sweet sentences like, “luve you mama/dadda!” “Thank ou Fia!” Tiny things like that. Those are the things that most parents take for granted but for us, we cherish and encourage those little things on a daily basis.
The biggest misconception people have about being a Sanfilippo parent is …
We want people to tell us that they are sorry or that we want to hear that you feel sorry for us. Truthfully though, we would rather have people listen to us and learn about what Sanfilippo is. When they ask how they can help really mean it and then go out and help raise awareness and help be apart of finding a cure.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
It’s obviously a heartbreaking disease but instead of feeling sorry for Carter, stand with him! Lend him your voice to shed a light on this horrible disease and help us find a cure! There are many different trials going on right now it is not cheap to get them up and running. We are hopeful that we can find a cure for these children but we need donations to make that hope a reality.
If we could ask just one thing from the world/people, it would be …
Please help us spread awareness and if possible, donate to help us find a cure! With you help each one of these children have a chance at a healthier, longer, and happier life!
Why are we asking you to donate to Cure Sanfilippo Foundation?
We are asking for you to donate to Cure Sanfilippo Foundation because they are helping as many children with Sanfilippo as they possibly can. It is not cheap to find a cure. There are endless hours of research, and you need a lot of money to support different treatment, therapies, and trials. Your donation will not just help a child but it will be helping our community as a whole!