Q&A

Sanfilippo Syndrome is a rare and rapidly degenerative genetic disorder in children. Basically, these children do not make one single enzyme needed to break down material in waste and without it, it creates toxic buildup within their body and brain. Due to this, it takes away skills they’ve already acquired such as speaking, walking, talking and eating. This is why we refer to it as a child’s version of Alzheimer’s disease. These children will also develop seizures and typically pass away in their mid-teens.

As far as an exact number of cases, It is actually pretty difficult to give an exact number as many times this disease is misdiagnosed as autism but we know it is in the thousands. It is estimated that one out of every 133 people walking around are carriers and do not even know it. What makes this disease rare is when two people who are carriers have a child together, they have a one in 70,000 chance of having a child with this disease. To break that down even further, it is a one out of four chance of having a child with Sanfilippo Syndrome if both parents are carriers.

2. How has Carter been affected by the disease so far?

Currently, Carter is still doing ok for his age. He is losing some of his words, his balance is not as good as it used to be, and I would say that the most noticeable thing is that sometimes when we are at different places, he will become lost and confused.  He will start crying and asking, “go back to mama car” as he needs to be in a place he knows and is comfortable. It is heartbreaking because he is crying because he scared and confused, and I cry because I know this is just the beginning of Sanfilippo stealing him away from us.

3. Talk about starting “Saving Carter”

We started SavingCarter.com as we are trying to get a new enzyme therapy replacement trial funded. The million dollars is what is needed to get the trial up and running so that way we can get it into the children. This trial we are trying to fund offers a novel enzyme therapy replacement therapy that has shown remarkable results in a very similar disease not only in the body but the brain. Scientist are working on a way to adapt that treatment to be used for the type of Sanfilippo Syndrome that Carter has.

4. How will the money be spent and how quickly can you expect results?

All the money we raise goes to Cure Sanfilippo Foundation a 501(c)(3) nonprofit organization. All of the money we raise with Saving Carter will go towards funding this new clinical trial so we can get it into these children. Typically it can take one to two years to get everything approved and start to treat the first patient, but our goal is a year and a half; anything sooner would be a blessing.

If you would like any more information, I invite the public to contact me through Saving Carter.

To get more info about Sanfilippo Syndrome, such as early symptoms, etc, go to www.CureSff.org.

This essay was featured in the Father’s Day edition of The Sunday Paper, Maria Shriver’s free weekly newsletter for people with passion and purpose. To get inspiring and informative content like this piece delivered straight to your inbox each Sunday morning, click here to subscribe.