Let’s Raise Awareness of Sanfilippo Syndrome for Rare Disease Day
My 25-year-old daughter Abby has a rare, terminal disease called Sanfilippo syndrome. The best way to describe the disease is to compare it to Alzheimer’s, but in children. It robs her of cognitive abilities, including speech, attention, and memory, and motor abilities, including walking, mobility, and motor planning.
Sanfilippo syndrome affects her body’s ability to regulate its temperature, so she no longer sweats. We live in Houston, Texas, where it is hot more often than not, so this is a safety issue for us now.
She is now incontinent, and diarrhea is more common. She has also begun to experience seizures, which are incredibly scary to witness. And the seizures she has had are nothing compared to the seizures many other Sanfilippo kids experience.
Abby used to independently eat, mostly dress herself, play computer games on her own, and choose what to watch on TV. All of this has to be done for her now. And her interests are very limited. Whether it is her inability to tell me otherwise or her knowledge that she cannot do what she used to do, she appears to lack interest in almost everything.
She still enjoys music and movies, but it is mostly what she used to like as a young teenager. Just as elderly people with Alzheimer’s or dementia appear to have a long-term memory that stays somewhat intact, Abby still enjoys what she did in her youth. It is comforting when anything brings her joy. However, it results in her living in a bubble of time and makes it feel as though she is more disconnected from family.
This disconnect between Abby and her dad, sister, extended family, and me is so disheartening. So many people love Abby and want to help her. I know she loves them back, but she does not reciprocate affection like she used to do. She will give a hug or kiss with some pressure, but it is not freely offered.
Abby requires constant supervision and care to ensure she is safe and healthy. She luckily has a full-time caregiver who loves her and truly cares about her well-being. On weekends, my husband and I care for her. It is honestly draining at times. She is like a toddler but in an adult body. So, we cannot pick her up and move her where we need her. Bathing her, taking her to the restroom, and brushing her teeth can all be cumbersome tasks at times.
I share all of this to provide a glimpse into our lives and to explain what it’s like to parent a child with Sanfilippo syndrome. I do not ask for pity but rather attention given to this awful disease. Sanfilippo will eventually claim Abby’s life, and I have no choice in the matter. But raising awareness is important because it will boost research efforts and hopefully help find a cure. I would spare any parent from being told that their child has this rare, terminal disease.
My husband and I created Abby’s Alliance, a community that represents those who love Abby and support our family. We usually have a 5K event in the spring of each year to raise funds, but the pandemic has shut down our efforts last year and this year.
All funds we raise go directly to the Cure Sanfilippo Foundation. This nonprofit organization was founded by Glenn and Cara O’Neill, parents who also have a child with Sanfilippo syndrome. The foundation’s goal is to raise awareness and funds for clinical trials, medical interventions, and hopefully one day, a cure.
Please consider visiting our Abby’s Alliance page to learn more about Abby and to receive updates on our future fundraising endeavors. Also, there are so many other precious families who support the Cure Sanfilippo Foundation, and I encourage you to read more about them and the foundation itself. Finally, if you feel moved to donate in Abby’s honor, you can also do that here through the Cure Sanfilippo Foundation’s website. Let’s find a cure!
Note: Sanfilippo News is strictly a news and information website about the syndrome. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sanfilippo News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Sanfilippo syndrome.