- Current Age:
- Home State:
- Diagnosis Date:
- July, 2015
- MPS/Sanfilippo Type:
- MPS III-A
- Thierry and Elizabeth
What it felt like when we learned our child has Sanfilippo Syndrome…
When we got Zoe’s diagnosis, we were in complete shock. We were completely unprepared to even consider a diagnosis like this. We had no idea what Sanfilippo Syndrome was and the only place we could find information was from the internet, so that just made it so much worse and so much more isolating. Zoe was diagnosed when she was 4 years old. That is when most parents really start to see their child’s personality and quirks and for us, it was like telling us we would never get to see who she really was or what she would become. It is hard to put into words what this felt like, this sudden, devastating news. It changed everything and at the same time, nothing changed, we just had to go on with our lives.
wHAT OUR CHILD LOVES MOST is…
Zoe loves to sing and dance. If she isn’t singing or dancing, she is playing with her little brother, playing with our dog, Elmo, or watching you tube videos. Zoe also loves school, spending time with her family, and giving hugs!
How has Sanfilippo affected our child?
Zoe has always been “different” than the other kids. As a baby she cried a lot and as a toddler, she had a lot of “quirks”. When she speaks, people can only understand about 25% of what she says, she cannot be left alone in a room because she will try to destroy whatever she can get her hands on and she is extremely hyperactive. She does not like crowds, change in her routine, or certain people, she still wears diapers at night and long trips, and she is just kind of hard to handle if you are not used to her. She also has moderate hearing loss in both ears and has some slight vision problems. These are all of the things you may or may not notice if you are around her. On the other hand, what you might not see is that although Sanfilippo has taken many things from Zoe already at the age of 5, it has not taken her joy away. She is completely innocent and pure. She does not judge and does not know when people are judging her. She lives in each moment with pure joy and she is the bravest little girl I know because even when she is in pain or she cannot speak her words, she never lets that get her down. She just keeps dancing!
How has Sanfilippo affected our entire family?
On one hand, we are the same family we have always been because Zoe has always had Sanfilippo even if we didn’t have a name for it before. But on the other hand, we are completely different. We enjoy our time together more and we try not to sweat the small stuff. We have a new perspective on things now, and that has helped us to become better as a family. We try not to judge other and we have more empathy and understanding than before because we don’t know what struggles other people are facing. We also know that Sanfilippo has made us isolated from friends and family. We feel like people do not really understand what we go through on a daily basis and what it’s like to have a terminally ill child and we don’t really expect others to know what that feels like, but it’s a lonely place to be sometimes. We do our best to be “normal” and participate in normal family activities, but that gets difficult at times.
The hardest part of being a Sanfilippo parent is …
Watching our little girl have limitations and knowing that she is missing out on so many basic joys of childhood. We have so much hope for the future and for new therapies, but at the same time, we live with a daily fear that we will not get to see her grow up and we will never get to know the “real” Zoe. We live in fear of regression, fear of seizures, fear of hurting, and fear of death. For us, that is the hardest part.
If we could ask just one thing from the world/people, it would be …
This disease is hard on families and obviously, hard on the children it affects. We appreciate when people actually show up to play with our kids and when people treat us like any other family. Please invite our kids to birthday parties, but also please understand if we can only stay for an hour. Please be patient with us, offer us help if we need it, and please, don’t avoid talking to us about it; WE need people to listen.
Why are we asking you to donate to Cure Sanfilippo Foundation?
The disease is cruel but a cure is right around the corner! We need cures for Sanfilippo Syndrome and for the other 7,000+ rare disease and we cannot do this alone. Please help save our children!