- Current Age:
- Home State:
- West Virginia
- Diagnosis Date:
- September 23, 2015
- MPS/Sanfilippo Type:
- Elise and Dave
What it felt like when we learned our child has Sanfilippo Syndrome…
One word — devastating. We felt a tremendous sense of loss and fear and tears poured down our faces. We went through all the questions in our mind that you might expect. How and why could this be happening to us? What did we do wrong to have our child suffer this way? What will we do if our unborn child has this too? What will happen to the plans we had for our family? How could we have never even heard of this disease and how, in this day and age of medicine, could there not even be a treatment option?
Then after the sorrow and pity, we had to snap back to reality. Through no fault of our own, we had to start looking toward our new future and what actions we could realistically take. A whole new set of questions begins to emerge. What research exists and how do we help push it further? Should we start a non-profit or partner with an existing one? What can we do in the near term to help alleviate Keira’s suffering and prolong her life? How do we secure funding for the future medical expenses to come?
We are still working on answering those questions and adjusting to our “new normal.”
TELL US ABOUT YOUR CHILD AND WHAT HE/SHE ENJOYS?
Keira is happiest when she is with her dog/partner in crime, Holly. Even mentioning Holly’s name makes her face light up. She absolutely loves seeing her baby sister dance and can’t get enough of watching Dora and Sofia. She always giggles when her classmates and other children are playing, and laughs with delight when she’s running like the wind.
How has Sanfilippo affected our child?
She remains the giggly, happy, social and fun-loving child that we’ve always had, but Sanfilippo has robbed much from her. In the span of about 6 months, she has gone from speaking short full sentences, to a limited number of single words. Previously, she was able to memorize names with exceptional ease and recall, but now cannot remember names of anyone new she meets. Every time we think she cannot possibly be anymore hyperactive or restless, her activity level increases. She continues to have very poor nights of sleep, sometimes being up for several hours, a couple of nights per week. We have not heard her say “I love you” in three months, and we desperately fear we will never hear these words out of her mouth again.
How has Sanfilippo affected our entire family?
We are heartbroken at the idea that our infant daughter could potentially spend a majority of her childhood watching her older sister, whom she’s currently obsessed with and amazed by, lose more skills and suffer in pain before dying as a child. Every day is a challenge – between work, insurance, medical programs, fundraising and a newborn, we barely hold it together. With Keira’s extreme hyperactivity, lack of ability to communicate and her new medical needs, we are carrying a burden and workload more than any family should be faced with. To make matters worse, Sanfilippo doesn’t allow Keira to sleep well either. This means we don’t get any rest or breaks, even during the night.
The hardest part of being a Sanfilippo parent is …
Knowing that an effective treatment or cure is there, and the science is here now, but time and money are getting in the way of bringing these quickly enough to our kids.
The biggest misconception people have about being a Sanfilippo parent is …
That we should be pitied. We don’t need pity, we need your help in getting a cure!
Just because a child doesn’t look “sick,” doesn’t mean they are healthy. Sometimes these invisible illnesses are the worst kinds because everyone assumes that the child is “faking” or that the parents are irresponsible and do not provide any structure or guidance.
If we could tell people just one thing about Sanfilippo Syndrome, it would be …
It’s the worst disease you have never heard of. We never knew something as terrible as this existed and it’s so hard to believe that something as terrible as this exists in the 21st century and that there is still no treatment.
If we could ask just one thing from the world/people, it would be …
We are learning to cherish every moment we have with Keira, and encourage others to do the same with family and friends.
Why are we asking you to donate to Cure Sanfilippo Foundation?
We know there are a lot of great causes and charities in the world worthy of funding. However, the rare disease community by definition is very small and we need all the help we can get. We make every dollar count, so if you are moved by Keira’s story, please consider Cure Sanfilippo Foundation for your charitable giving. They are helping to give Keira, and other children like her, a chance at life.