Sanfilippo Syndrome: The Rare Genetic Disorder that Inspired the Fadden Family to Start Aislinn’s Wish Foundation
Apr 02, 2018 04:42PM
By Amy Fadden
Aislinn was born Oct. 3, 2010. She is a younger sister to our now-9-year-old son, who does not have Sanfilippo. She was a healthy baby, with a mind of her own from the first day. She failed her newborn hearing screen, but we weren’t too concerned because she wouldn’t be still for the test. We were referred for further evaluation.
Over the next few months, Aislinn had multiple hearing tests. It was a challenge because she would never sleep through them, and eventually, she had what’s called an ABR under general anesthesia. It showed mild-moderate hearing loss in both ears and she was fitted for hearing aids. She could hear pretty well without them, but she has never minded wearing them. I remember leaving one of the audiology appointments and shedding a few tears because, as a parent, I didn’t want Aislinn to have any challenges. She had an MRI to try to figure out the cause of her hearing loss, and while it showed some possible abnormalities, subsequent visits to multiple subspecialties didn’t reveal any problems. I had no idea what was coming…
Aislinn received early intervention services until she turned 3. She had a language delay, which we attributed to the hearing loss. She was a happy, clever, independent little girl with a head full of tiny curls. We didn’t suspect anything wrong until she started preschool through CMS. Her language wasn’t increasing at a rate that matched the mild level of her hearing loss. While we were gathering her records for a developmental evaluation, a neuroradiologist took another look at her MRI and suggested she be tested for mucopolysaccharidosis (MPS), specifically Sanfilippo Syndrome. We had never heard of MPS, and my internet search left me petrified.
The diagnosisSanfilippo is a rare genetic disorder, affecting about 1 in 70,000 births. There are several types. Aislinn has type A. Often, parents have no idea they are carriers. Both parents must be carriers for a child to be affected, and even then, each of their children have a 1 in 4 chance of having Sanfilippo. It causes progressive neurological damage. Kids with Sanfilippo lack an enzyme needed to process a certain sugar, so it builds up over time. They develop pretty normally until around preschool age. Gradually, they lose their abilities to talk, walk, eat… It’s been called “childhood Alzheimer’s,” and the eventual outcome is the same. There is no cure, no treatment, no dietary changes that can help. It is always fatal, most times in the early teens.
I remember watching Aislinn sleep the night of Feb. 8, 2015. I remember thinking it could be the last time she was “okay.” On Feb. 9, the genetic counselor called. She said she had news, and I told her I didn’t want to know. Her response was, “I know you don’t,” and that’s all she had to say.
The sun crashed out of the sky and left us in a vacuum of dark, cold despair.
We clawed our way through. We cried, talked, went through the motions of taking the kids to school, met with the genetics doctor. I spoke to a local mother whose daughter, Abby, also has Sanfilippo Type A. Eventually, we made our way to some Facebook groups for MPS. Since the MPS disorders are rare, these groups allow families to connect across thousands of miles. We call them our “MPS family,” and that is a perfect description. We are related in a horrible, devastating way, and we need each other to understand what only other MPS parents can.
Aislinn is currently in 1st grade at a charter school. She has a wonderful 1-on-1 aide and enjoys her peers. She does therapeutic horseback riding at Wings of Eagles Ranch, which has been the most amazing experience. Aislinn loves her ponies! She is happy and charming and loving and still keeps to her own agenda. Almost every night, she crawls into bed with us and snuggles right up against us. If you smile at her, she can’t help but smile back. She continues to receive speech therapy, and we have a CNA 20 hours a week. One of the challenges of Sanfilippo is that kids are very active and not aware of their own safety. Aislinn requires constant supervision, so the CNA hours allow us to accomplish everyday tasks.
I have not said much about our son, Colin. He and Aislinn have a pretty typical sibling relationship. She knows how to irritate him and he responds by yelling at her. He doesn’t know the ugly reality of Sanfilippo, which is essentially that Aislinn learns more slowly than other kids. He would worry, and we want his childhood to be as normal as possible. We try to make sure he gets opportunities for sports, vacations, camps, time with friend. He has occasionally asked when Aislinn will “grow up,” and I respond gently. He is the other half of our hearts.
Finding a cureThere is one clinical trial underway of gene therapy, which is basically putting a “good” copy of the Sanfilippo gene into the brain. There is research ongoing, and we hope to see more trials start this year.
Aislinn was not eligible for the current trial, and we have no way of knowing if she will qualify for any future trials.
Since Sanfilippo is rare, funding for research is critical. People don’t know about Sanfilippo – we didn’t until Aislinn was diagnosed – so they don’t put money into it. This is why we started Aislinn’s Wish. The only way we can save Aislinn’s life is if researchers find a way to treat or cure Sanfilippo. The only way they can do this is if their research is funded.
Starting our own foundation allowed us to choose which research we support. We began in 2016, and our first fundraiser specific to our foundation was the Carolina Drive to Cure Sanfilippo Golf Tournament. We joined forces with the Abby Grace Foundation. Abby’s mom, Wendy, was the mom I talked to when Aislinn was first diagnosed. They live in Dallas, NC. The tournament raised $20,000!
Carolina Drive to Cure Sanfilippo golf tournament
Since the 1st tournament, we have had a fall festival at 26 Acres, and Hickory Ridge High School held a dodgeball tournament last spring. These events were just for Aislinn’s Wish. Our next tournament with the Abby Grace Foundation is May 11 at Skybrook Golf Club in Huntersville, NC.
It's the 2nd annual Carolina Drive to Cure Sanfilippo! We are looking forward to seeing you back on the golf course for a fun day of golf supporting Abby, Aislinn and all of their Sanfili... Read More »
One of the researchers working on Sanfilippo Type A is Dr. Haiyan Fu at Nationwide Children’s Hospital in Ohio. Her lab is working on the next generation of gene therapy, and we hope it will lead to expanded clinical trials. Our goal is to raise $200,000 -- and, with Abby Grace, we’ve raised $40,000 so far.
The tournament is open to anyone. We are currently looking for sponsors and donations of team, raffle and door prizes. Individuals and teams can register at carolinadrivetocuresanfilippo.org. If a sponsor doesn’t have a team of 4, we will donate those spots to first responders. There will be food trucks, local breweries, and a chance to fire a golf ball launcher.
Awareness is the most important thing.
People need to know about Sanfilippo in order to care, in order to want to
donate. Check out our website, aislinnswish.org, and our Facebook page. Share
them with friends. Attend our events. Of course, fundraising is our primary
goal. It is the only way we can find a cure.
How can people help?
There are still times when it seems surreal that we are part of this Sanfilippo family. I look back at those tears I shed over Aislinn’s hearing loss and wish that was her only challenge. We are immensely grateful for our MPS family and for everyone who has joined us by raising awareness, attending our events, and donating. How many times do you hear or see sayings about enjoying the moment? Sanfilippo takes those sayings and drops them square in your path. We don’t know what will happen. We don’t know if Aislinn will get into a trial, and if that trial will succeed in stopping the progression. There is no set course for kids with Sanfilippo.
Each child is different in how and when the disorder will affect them. We don’t spend much time looking years ahead. No one – NO one – can know what the next 5 minutes will bring. Our lives changed in the time it took the counselor to say, “I know you don’t.” So, we love Aislinn and Colin with everything we have. We do our best to keep them safe, healthy and involved in the world. We paint images of their smiles, laughs, and adventures on our memories. We live as hopefully as we can, because we have to. We live without guarantees, which is no different from how everyone lives. We just recognize how precious each second is.
To learn more about MPS, you can visit this website: https://mpssociety.org/learn/diseases/mps-iii/
To learn more about Aislinn’s Wish, how you can help, where to donate, and more, you can visit here: https://www.aislinnswish.org/