- Current Age:
- Home State:
- Diagnosis Date:
- Dec. 20, 2019
- MPS/Sanfilippo Type:
- MPS III-C
- Bruce and Cybill
- Joana and Simone
What it felt like when we learned our child has Sanfilippo Syndrome…
The first response when we found out that Solomon had Sanfilippo Syndrome was, “Okay, so what are our treatment options?” It was a devastating blow to be told that his prognosis was progressive and had no treatment or cure.
The shock of hearing that all you could do for your child, who would soon lose the ability to speak, think, move, or function, was to enjoy him and make him comfortable, was unbearable.
We were left heartbroken. For years, we desperately wanted an answer, but never would imagine that this would be the diagnosis.
There are no words to describe that level of grief you feel, and as you gather more information, it doesn’t get better.
As parents, it’s impossible to imagine a world without his joy, energy, mischief and endless kisses. There are no words to fully describe the feeling of being told he has Sanfilippo.
What our child loves the most is …
Solomon loves Jesus, his family, hugs and kisses, music, Peppa Pig, and pretty much anything Nick Jr, Peanuts, or Disney.
How has Sanfilippo affected our child?
Solomon was diagnosed with Autism and ADHD in first grade, but was able to read, write, do basic math. Outside of being full of energy, he seemed to be hitting all his milestones until then.
As the years has progressed, we noticed an ongoing loss of those skills, safety awareness, boundaries, understanding simple directions, and vocabulary.
Sanfilippo has taken away even the skills he gained as a young child, his ability to communicate, comprehend, sleep through the night. He can no longer write or read unassisted and is no longer potty trained. He has started to lose some sight and full mobility of his arms. He rarely gets a full night of uninterrupted sleep, and he must have someone watching over him at all times.
Now that we know the symptoms of Sanfilippo, we can clearly identify the points of regression over the last few years.
We live in fear of any health changes, day to day, as we don’t know what will happen to him as time progresses.
How has Sanfilippo affected our entire family?
The diagnosis is so new to us that we are still navigating and working through what it will truly mean.
We try to keep up with our normal routines, but it definitely has an impact on appreciating time together. There is this unspoken, underlying feeling of sadness we are constantly trying to overcome.
We have an amazing village of family, friends, care providers, and therapist, but day-to-day, 24-hour care, to provide for every basic need is very taxing emotionally and physically for the entire household.
The hardest part of being a Sanfilippo parent is …
The guessing what he is experiencing. He is non-verbal when it comes to expressing feeling or emotion. We just don’t know when he is having discomfort, pain or if he’s even wondering what is happening when so many abilities slip away right before our eyes.
Just knowing that speech, mobility, cognitive ability, sight, and eventually life will be lost unless a cure is found soon is hard.
Every child deserves the chance at life and to be healthy. To know that the only chance Solomon and other MPS III children have are parents and friends raising funds for research and treatment can be disheartening, but we have faith that we will get there.
The biggest misconception people have about being a Sanfilippo parent is …
The biggest misconception is we are super humans. We are strong because we have grown stronger with each challenge we overcome. But it is hard and, at times, almost unbearable.
We really couldn’t do half of what we accomplish without the support of so many people in our village and are thankful every day that we have so many amazing people in our circle.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
We are hopeful an effective treatment is found soon, but we need help to get funding for additional research. Because Type C is so rare, affecting just one in a million children worldwide, there is no financial incentive for corporations to invest in a cure. That basically sucks.
It can be very discouraging to think that outside of parent advocacy to find a cure, corporations with the means to research don’t see the benefit financially in curing our children.
There is a small, but mighty, group of parents and communities fighting to raise awareness and funds. People just like you. I hope you will join us in the fight for a cure.
Why are we asking you to donate to Cure Sanfilippo Foundation?
Our children deserve a chance at a healthy full life. Your contribution is desperately needed to find a cure through research and clinical trials.
We have hope for a cure for many deserving children.
Not a single child has survived Sanfilippo, but there are parents, families, friends, and communities that are fighting to change that.
We are asking you to donate to Cure Sanfilippo Foundation because our hopes lie in finding a cure and your donation will help us get there.