- Current Age:
- Home State:
- Diagnosis Date:
- June 9, 2017
- MPS/Sanfilippo Type:
- MPS III-A
- Heather/Clifford, Joshua/Shanna
- Novah, Tina, Jaelynn, Joshua
What it felt like when we learned our child has Sanfilippo Syndrome…
Confusion, followed by feeling of complete and utter despair. We did a lot of research online, as far as what’s to be expected. We never expected someone to be telling us we would be burying our son. This was an ending to a traumatic story we refused to accept. We received a binder full of information based on Josiah’s diagnosis alone.
It was then we realized everything that he has ever endured took place as part of the syndrome. This horrific disease has caused everything he has ever gone through; there was no other explanation! It was right there in front of us. To think that the worst was still yet to come was a sinking and unbearable feeling. I had to learn very quickly being pregnant, and dealing with another small child that we could not let this defeat us. Josiah feeds off of our energy, and he began not sleeping even more often. It was just time to take a breath, and put it in God’s hands.
What our child Loves the most is…
Josiah absolutely loves anything music! He is obsessed with the outdoors, and of course what boy doesn’t like motorcycles!!
How has Sanfilippo affected our child?
At the age of four Josiah began to have speech problems, he was diagnosed legally deaf in his left ear. It wasn’t until he got into Pre-K they suggested he may have a cognitive delay. We then had him evaluated for Autism. He tested positive according to the doctors. Josiah had in excess of five tube surgeries by the time he was six years old. At the age of six he also had Bi-Lateral cord lengthening surgery, due to his extreme tip toe walking. The surgery was a success! It was at the age of six Josiah had his first and second seizure. The following year he was tested over and over for seizure activity and epilepsy. The results remained negative. It was at this point, still not receiving any answers, we chose to move him down to Loma Linda Children’s University for yet another opinion. This year at the age of eight, he had yet another three day EEG in the hospital. Josiah was found to be non epileptic, which was amazing news. Although he continues to have one seizure a year. It was at the same hospital visit they tested for two genetic diseases, those were also negative. We were contacted by Dr Jose Camacho a week later and asked to come in. This amazing man sat with our family for over three hours. He offered a free kit to test for Lysosomal Storage Diseases, we jumped at the offer, never expecting the result. Here we are today, fighting with and for our boy!
How has Sanfilippo affected our entire family?
Sanfilippo has taught us to be better people, better parents. Pay attention even more so to detail. Hug a little more, laugh more often, and never go to bed without saying, “I Love You!”
The hardest part of being a Sanfilippo parent is …
Trying to prepare, and yet always feeling unprepared for what’s to come next. Hoping you can cure your child on our own, with some natural miracle remedy. Changing everything about the way you live because you refuse to believe there is nothing you can do.
The biggest misconception people have about being a Sanfilippo parent is …
An inspiration, so strong, and such a fighter But in reality, I’m putting on a mask each day! I feel like I’m dying inside, losing one of the people I’m biologically programmed to protect. Feeling as though I’ve failed because I cannot save him. I will never stop fighting for Josiah; we as a family will never stop. I do not tell his story for sympathy, because I know you have no idea what to say to me. I tell you because you would NEVER know unless it directly affected you. This syndrome is devastating, taking everything from our children. Everyone should be aware of this.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
As a parent, a family member, a friend… Educate yourself. Be aware of the signs and don’t be afraid to ask for a second, third, fourth opinion. You are the only ones that truly know that child, you are the only advocate they have.
If we could ask just one thing from the world/people, it would be …
Open your mind, open your hearts, help us fight for these kids. That they deserve a chance at life too; they deserve to be healthy, free of pain and confusion! Help us Fight!!
Why are we asking you to donate to Cure Sanfilippo Foundation?
Unlike cancer or diabetes, no one cares about Sanfilippo. Yes, it’s very sad, but that’s the harsh reality. We need help raising the money; no one sees the point in donating the funds to something that has not yet shown significant results. We need the donations to show the world the trials do help, that they do change our children, that the do in fact cure them. You tell us this syndrome is incurable and terminal… How do we even know that to be true?