for Aislinn: advocating for rare disease families
Diseases
Genetic Disease, Rare Disease
Issues and Challenges
Amy has encountered: Access to Expert Providers, Copay Issues, Rare / Underserved Disease, Caregiving
My Story
Four.
It took four words for the sun to plummet out of the sky.
When our daughter, Aislinn, was born, she failed her newborn hearing test. It took a year to finally get an accurate picture of her hearing ability, and I remember walking out of the audiologist’s appointment in tears because of the challenges Aislinn would face with mild to moderate hearing loss. Still, we adjusted. Aislinn got hearing aids and early intervention services, and she made amazing progress! She was fiercely independent with a fiery temper, and that probably served her well as she learned how to decode sounds and use them to speak. But after a few months in preK, Aislinn wasn’t catching up with language the way we expected. As we collected her medical records in preparation for a developmental evaluation, one astute neuroradiologist looked at an MRI from when she was 2. At the time, we were looking for the cause of her hearing loss, and the small abnormalities were thought to be age appropriate. Now, we were told to have her screened to “rule-out” something called Sanfilippo Syndrome.
Google can give you infinite information about anything, and it delivered when I looked up Sanfilippo Syndrome. If I thought adjusting to hearing loss was difficult, I had a far more terrifying prospect barreling towards us. Sanfilippo Syndrome is a rare genetic disorder. Both parents must be carriers for their child to be affected, and even then, each child has a 1 in 4 chance of having the disorder. Children with Sanfilippo usually develop pretty normally until around preschool age. Then, they start to lose milestones. Over the next years, they lose their ability to walk, talk, and eat by mouth. As if those symptoms aren’t devastating enough, Sanfilippo is always fatal, usually by the early teens.
We did the screening and held our breath. I knew the genetics counselor who called with the result, and when she said she had news, I told her, “I don’t want to know.” Her response was, “I know you don’t.”
Four. She said four words, and everything we thought we understood about our lives and the future shattered. Aislinn was four years old.
I am happy to tell anyone who asks what the following years were like, but it’s too long a journey for here. For several years, Aislinn was a vibrant, joyful, empathetic little girl. She loved Disney movies and animals, harassing her older brother, singing Happy Birthday every day of the year, rummaging through whatever was around, and riding her pony at therapeutic riding. Right around the start of COVID, when she was 9, Aislinn fell at school and hurt her tailbone. That seemed to start a decline. She lost her ability to walk and the short phrases she would say. By the time she was 11, she had a feeding tube and needed help transferring from sitting on the couch to her activity chair (like a wheelchair) or from lying down to sitting up. In 2022, just 3 weeks after her 12th birthday, Aislinn got a stomach bug. The doctor at the ED told us it was too hard on her heart. She stopped breathing in the waiting room, and they were unable to bring her back. I was sure the sun would never shine on us again.
When your daily life centers around caring for a child’s every need and that child is suddenly gone, you have no idea what your purpose is. It has been 2 years, and I have finally found a new path, or perhaps a similar path with a different destination. When Aislinn was alive, a few clinical trials opened for gene therapy for Sanfilippo. Each time, we submitted her information and frantically hoped for a slot. Each time, we were told she was too old. Too old, at not even ten years old. Some of those trials continued; others started and ended because the endpoints weren’t met, or the sponsor decided the treatment wasn’t good for their budget. It has been over ten years since we were told that Aislinn had a disorder with no treatment or cure, and there is still no approved treatment. While hopes are high that one will succeed within a year, we won’t stand back and wait. While Aislinn won’t benefit from any treatments, we know too many families whose children still battle Sanfilippo and don’t have time to wade through regulatory obstacles. In my daughter’s honor, I will continue to advocate for policies and treatments, so no other family must figure out how to live without their child.
My Motivation and Inspiration
My daughter, Aislinn.
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