- Current Age:
- Home State:
- Diagnosis Date:
- September 17, 2016
- MPS/Sanfilippo Type:
- MPS III-A
- Maggie and Miguel
What it felt like when we learned our child has Sanfilippo Syndrome…
It was the most devastating news that I could’ve ever imagined hearing. This came as a surprise because the year prior to her Sanfilippo diagnosis, she was diagnosed with Dilated Cardiomyopathy and at the time I thought that was the most devastating news that I had ever heard. Emmy was born to us, as what we thought a beautiful, healthy baby girl. It was not until she was 18 months old that we randomly discovered that she had a serious heart condition called Dilated Cardiomyopathy which would require her to need a heart transplant. During the process of searching for answers as to what could have possibly caused her heart condition, we revealed her diagnosis of Sanfilippo. All hope of having a heart transplant was taken away at that point, and we were left to cope with the news that Emmy was terminally ill with a horrendous degenerative disease.
Although, the world turned upside down September 17, 2016 (date of her diagnosis) I don’t think I really understood then, the degree of what losing hope actually does to ones self, family and overall existence. It’s been nearly 2 years since her diagnosis and with no options or hope to help her, I’ve slowly learned how poisonous hopelessness can be.
What our child loves this most is…
Baby dolls, babies and animals.
How has Sanfilippo affected our child?
Sanfilippo has affected Emmy in every aspect of her life. Emmy was 2 1/2 years old at the time of her diagnosis and it was difficult to tell at her age that she was much different than other kids. As she has grown older, it has become apparent that Sanfilippo has set in and consumed every part of her life. She’s in a special-needs classroom at school and has to be strapped to her chair while eating so she doesn’t get up or fall over. She has to be wheeled around in her wheelchair because she constantly falls because of ambulatory issues from Sanfilippo and tires easily because of her heart condition. She has chronic ear infections, sinus infections and UTI’s. She has a lot of trouble sleeping because she has an obstructive upper airway, sleep apnea, large adenoids and tonsils. She’s taking ibuprofen and Tylenol around the clock because she has pain in her joints and because of her heart condition she cannot take stronger NSAIDS. At 4, she is struggling to walk because she constantly falling. Her language and ability to understand never advanced past 2 so she isn’t able to communicate well and I’ve never been able to have a conversation with her.
How has Sanfilippo affected our entire family?
It’s painful frankly to watch her lose everything. Her ability to speak, her ability to walk. The whole family is in pain and everything we think about always comes back to Emmy.
The hardest part of being a Sanfilippo parent is …
The hardest part about being a Sanfilippo parent is the feeling of not being understood. Having guilt because I can’t protect her from the evils of this disease. The lack of sleep that tires me out and makes being an active parent extremely difficult. Overall, it’s so hard to accept the fact that I’m not able to do everything and be everything for her.
The biggest misconception people have about being a sanfilippo parent is…
That you can just do it. It takes a village.
If we could ask just one thing from the world/people, it would be…
Help spread awareness of this horrendous disease and to help contribute whatever you can possible to find a cure that will stop it from affecting another child and family.
Why are we asking you to donate to Cure Sanfilippo Foundation?
So no other child or family has to go through this.