- Current Age:
- Home State:
- New York
- Diagnosis Date:
- December 15, 2017
- MPS/Sanfilippo Type:
- MPS III-A
What it felt like when I learned MY child has Sanfilippo Syndrome…
There are no words to describe the feeling a parent has when they are told their child has a degenerative condition, one that will limit their lifespan. When I was reading the report that confirmed her condition, I felt a piece of me die inside and I was in state of shock. I wasn’t sure what to do or what to say. All I wanted was to hold my daughter and tell her it would be okay.
What MY child loves this most is…
Her mom. Nothing else brings a smile to my daughter’s face, like the moment she sees me. Even though she is non-verbal, and has regressed in her other abilities to communicate, I can feel her words in my heart. Seeing the joy that being with me brings to her is what motivates me each day to fight for a cure.
How has Sanfilippo affected MY child?
Early on in Angelina’s childhood, she seemed like your average child. She started to show unusual symptoms as a toddler but doctors thought she may have been hearing impaired. As time went on, I noticed more unusual developmental issues but doctors continued to give her an array of diagnoses, including intellectual disability, microcephaly, autism, etc. As she progressed into her teenage years, I strongly began to question if in fact she suffered from these conditions. Though she did share some symptoms of these diseases, the various doctors that I took her to could never seem to come to one conclusion. Eventually at the age of 15, the team of doctors at Ferncliff Manor discovered an abnormality in her testing. After further testing, it was finally concluded that Angelina has MPS III-A. Angelina was once a vibrant, energetic, silly, life-of-the-party little girl but unfortunately over these last 15 years she has dramatically regressed and has now lost her ability to communicate, shows little emotion outside of our interactions and has limited motor skills.
How has Sanfilippo affected our entire family?
These 15 years as a mother have been very trying. The joy I had the day she was born has turned into a constant fear of losing my child. I try each day to be as strong as possible because I know a strong me is what Angelina needs. However, there have been countless sleepless nights, lack of appetite, bouts of crying and struggles with depression. Though I have the full support of my family and friends, I often feel like I am completely alone. The thing that keeps me going each day is the joy I get from seeing Angelina’s smile. And since her diagnosis, I have found a new reason to fight, and that is so I can help raise awareness for this disease and work towards finding a cure.
The hardest part of being a Sanfilippo parent is …
The feeling of being helpless, knowing there is nothing I can do to change Angelina’s condition. What makes it worse is her inability to communicate means she can’t tell me how she feels, so watching her regress makes it that much more painful for me.
The biggest misconception people have about being a Sanfilippo parent is…
The one thing I don’t want is sympathy. I need strength. I need courage. And, I need hope.
If we could ask just one thing from the world/people, it would be…
All I want of the world is for people to be aware that there are children suffering from this disease.
Why are we asking you to donate to Cure Sanfilippo Foundation?
Sanfilippo is a very rare disease without a cure. Funding for research and awareness needs to be increased if there is ever a chance to find a cure.