- Current Age:
- Home State:
- Diagnosis Date:
- February 23, 2017
- MPS/Sanfilippo Type:
- MPS III-B
- Henry and Muna
What it felt like when we learned our child has Sanfilippo Syndrome…
Initially, when I got the diagnosis, I was were relieved. For over 2 year, it had been clear to me that Rose was suffering and struggling to develop due to her medical issues. Doctors either thought I was exaggerating or had no ideas of what was the cause.
Then, I read about the disorder. I learned that she would forget the few words she knows. My little girl who is always jumping and dancing would eventually be stuck in a wheel chair. Worse of all, I read there is “no treatment and no cure.” I felt helpless and scared that I would have to watch her suffer and be unable to help.
We worked to gain as much information as possible, and have found hope in clinical trials. The science for treatments and even a cure is just around the corner. The problem is that funding for that research is limited, so it might not come in time for Rose.
What our child Loves the most is…
Rose loves and understands people. Each morning, she asks to go play with her friends. If she sees someone sad or mad, she comes and asks me to help them. She loves to eat, especially ice cream and cheese. She loves to sing and dance. Currently, her favorite songs are Little Monkeys Jumping on the Bed and Row Your Boat. Her favorite book is Pete the Cat. Rose loves to smile and laugh. Her smile lights up the room.
How has Sanfilippo affected our child?
Rose works really hard to communicate but struggles to find the words. She gets frustrated because people don’t understand her. Rose has a tendency to do everything too fast. She tries to run too fast and falls. She has such a high pain tolerance and no safety awareness so she gets bruises all the time. Rose has increasingly become hyper and many times has difficulty paying attention. Rose puts, literally, everything in her mouth. Rose has trouble with her eyes not working together, which could lead to her losing her vision in one eye without surgery. Rose has a cold or flu more often than not. She has hearing loss when she has these colds.
How has Sanfilippo affected our entire family?
We’ve adapted our daily schedules to make sure there’s time for Rose’s therapies and other medical appointments. We try to have as much family fun time on the weekends as possible. We’ve also learned to just make the most of everyday with Rose. We have another child who doesn’t have Sanfilippo. We make sure our other daughter doesn’t get neglected. It has been hard to balance it all.
The hardest part of being a Sanfilippo parent is …
It’s hard not knowing what will happen. We know that Rose will not develop like most kids. We hope that a cure will happen in time for her. We don’t know what that cure or treatment will look like. We don’t know how to prepare our family. We don’t even know what will help today because Rose is always changing: having new difficulty behaviors or health problems.
If we could ask just one thing from the world/people, it would be …
First of all, thank you to everyone who has been a support to us and Rose. Thank you to anyone who has smiled with understanding while Rose tantrums in public. Thank you to all of Rose’s teachers and providers who focus on her capabilities, not her deficits. Thank you to our family and friends who have rallied around us with financial support, hugs, babysitting, listening ears and prayers. We asked for more of that compassion, understanding and support for families with children who have special needs.
Why are we asking you to donate to Cure Sanfilippo Foundation?
The science for treatments and even a cure is just around the corner. The research may even shed light on other neurological conditions. The problem is that funding for that research is limited. We are asking for support in jump starting that research in the hope that it will come in time for Rose.