- Current Age:
- Home State:
- West Virginia
- Diagnosis Date:
- March 6, 2017
- MPS/Sanfilippo Type:
- MPS III-A
- Eric and Tina
- Christian and Ethan
What it felt like when we learned our child has Sanfilippo Syndrome…
On Feb 28, 2017 the geneticist suggested that Aidan may have Lysosomal Waste Storage Disease, we didn’t know what to think, as Eric and I had never heard of such a thing before. Then the doctor stepped out to converse with another physician in the practice and Eric and I began doing a little research on our phones. That’s when it hit us. Wow, this was much bigger than the ‘autism’ diagnosis we were expecting. However, we had to remind ourselves that this was what she thought it may be, the testing still had to be done to confirm the diagnosis.
We received the confirmation on March 6, 2017 – MPSIII Type A. I remember Eric calling me at the office and giving me the test results. My heart shattered. No, not our sweet little Aidan. We were both devastated and heartbroken. Heartbroken for Aidan, for what was to come, the pain and suffering; heartbroken for ourselves and the diagnosis of our youngest son; heartbroken for our two big boys and how their lives are going to drastically change. It was and still is an earth shattering diagnosis, that rocks you to your core. Nothing prepares you for the words, “your son is dying and there’s nothing we can do”.
What our child loves this most is…
Aidan loves his Oreos. Something as simple as a double stuff cookie can bring such joy to a sweet little boy. He loves his big brothers Christian and Ethan and his best friend Roxie, our family’s boxer.
How has Sanfilippo affected our child?
Early on Aidan had multiple ear infections resulting in 4 sets of tubes along with his tonsils and adenoids removed. He also has developmental delays along with being nonverbal. His hyperactivity and impulsivity effects his concentration and ability to focus. Sanfilippo is also robbing Aidan of sign language that he picked up in preschool, which was our only way of having any sort of communication from him. Aidan can not be left unattended for a second!
How has Sanfilippo affected our entire family?
Sanfilippo doesn’t affect just the one, its affects the entire family. Something as simple as a family dinner out can result in outbursts, meltdowns and often stares from others. We have learned to cherish everything, every mile stone, every holiday, every Sunday dinner, every family movie night and even every little dirty handprint on the wall. Because in the grand scheme of things it’s all about finding the joy in what we have. Strangely, Sanfilippo has brought us closer together as a family, because we all now have one goal in life, and that’s to find a cure for Aidan.
The hardest part of being a Sanfilippo parent is …
The hardest part of being a Sanfilippo parent is knowing the inevitable. Knowing our time with Aidan is limited. Knowing that we still don’t have a treatment or cure. Knowing that every day is another day that Sanfilippo is taking its toll on our Aidan.
The biggest misconception people have about being a Sanfilippo parent is…
We don’t want sympathy, we simply want a cure.
If we could ask just one thing from the world/people, it would be…
Help spread awareness! With awareness will come a cure!
Why are we asking you to donate to Cure Sanfilippo Foundation?
Our children are counting on ALL of us! Sanfilippo knows no bounds, it could be your child, brother, sister, niece, nephew or grandchild that is diagnosed.