- Current Age:
- Home State:
- Diagnosis Date:
- October 25, 2017
- MPS/Sanfilippo Type:
- MPS III-A
- Jeff and Kelly
What it felt like when we learned our child has Sanfilippo Syndrome…
The day the Sanfilippo diagnosis was confirmed was filled with mixed emotions. We were obviously incredibly saddened but at the same time relieved to have a diagnosis. We had consulted several doctors and knew that whatever diagnosis she received, it would be devastating, so we were prepared for the news (as much as you can be for it). We are grateful for the late discovery of Sanfilippo, as it allowed us to not dwell on the diagnosis in her childhood and instead enjoy her successes.
What our child loves this most is…
Abby loves music – especially Disney and pop music from when she was younger. She also loves Disney movies and her dog, Ruby. Here is a video of her singing a Disney song from her facebook page.
How has Sanfilippo affected our child?
Sanfilippo has had numerous effects on Abby. It has caused dramatic decline in speech and her level of interest in activities and others, She is now in adult diapers all the time after having no issues for 15+ years. She is also less capable of doing things around the house that she used to do – simple tasks like emptying the dishwasher, sorting laundry, etc. Abby still appears to be happy off and on though, and we try to enjoy those times as much as possible.
How has Sanfilippo affected our entire family?
Our family was already dealing with health issues when this new diagnosis hit us. I (Kelly, Abby’s mom) was diagnosed with rectal cancer in October of 2015, was treated and then found out it metastasized this spring (of 2017). I’m now in stage IV cancer but thankfully undergoing a maintenance chemo regimen to keep the cancer under control. This alone was enough to deal with before getting Abby’s diagnosis. These health crises have caused us to cling to one another more than ever and savor precious moments we have together. Though my condition is considered terminal, I’m not concerned about cancer taking me anytime soon. I’m using energy to focus more on Abby, but Jeff and Emily are forced to watch both me and Abby go forward and endure what comes next. They have shown incredible strength and love throughout everything. And we now realize more than ever how much love surrounds us, as shown by our families, friends, and church community. People continue to abundantly show us Christ’s love.
The hardest part of being a Sanfilippo parent is …
Watching your child “disappear”. Abby thrived for many years – especially as an adolescent. We probably worry most about the potential of her being in pain and not being able to communicate it to us. It is a devastating thought for a parent to feel like their child is hurting and not bring able to help them. There are lots of hardships that accompany this role, but these are the most difficult for us.
Why are we asking you to donate to Cure Sanfilippo Foundation?
This is a disease of which most people are unaware. Spreading awareness of Sanfilippo Syndrome is vital, and Cure Sanfilippo Foundation is committed to doing this. Innocent children are dying from this disease every year, and they deserve better. Please consider donating to promote more awareness and hopefully a cure one day – sooner than later.