Advocating for an adult with Sanfilippo is tiring, but necessary

My oldest daughter, Abby, has Sanfilippo syndrome, a rare, genetic disorder sometimes referred to as “childhood Alzheimer’s.” This horrible disease has taken away almost all her speech and much of her cognitive ability. Her motor skills are also worsening, and she needs help when walking to ensure she doesn’t fall. Sanfilippo syndrome is relentless and will continue to consume my daughter until it takes her life.

Since Abby is 29 years old, she doesn’t attend school. She doesn’t go to any adult day habilitation centers because her cognition is too compromised at this point. She wouldn’t be able to tell us anything about her day. Also, these centers don’t accept adults if they’re incontinent. To preserve her dignity and ensure she’s safe, Abby is always with me, her dad, or a caregiver we know.

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At-home therapies

Abby’s limited mobility means it’s easier for her to be at home, so after she graduated high school, I investigated therapies she could receive at our house. She had music therapy for a while until we couldn’t find a therapist who’d come consistently. Since I’m a board-certified music therapist, she’s surrounded by music constantly.

We decided to pursue applied behavior analysis (ABA) therapy for Abby a few years ago to help her maintain the skills she has left. She’s had multiple therapists over the years, and they’ve mostly worked with her on making choices via eye gaze. Recently, new therapists were assigned to work with Abby. After about a month of working with her, they decided that ABA therapy is no longer appropriate for Abby, so the services have been discontinued.

Managing disappointment

I realize I could’ve fought for ABA to continue and created a fuss, but I chose to accept it and move forward. But I admit that I feel let down. Again. When told that Abby would no longer be offered this therapy, I was suddenly reminded of the numerous times I had to fight for her during her childhood.

There was almost always a service or therapy I had to request and then prove why it’d help her throughout her school years. As the gap between her chronological and developmental ages grew, so did the difficulty of procuring appropriate services for her. Being dismissed from ABA therapy was just another disappointment to add to that pile.

Advocating for Abby and her needs

I realize people who are outside looking in might think, “Why not fight it? How can you give up?”

The plain answer is that I’m tired and defeated. Abby has always been that in-between kid: She either was too high-functioning or wasn’t low-functioning enough to qualify for various help. Eventually, it becomes difficult to get back up after getting knocked down so many times.

Advocating for your child is hard work, and I’ve been doing it for Abby for almost 30 years. This disappointment is just another bump in the road, and we’ll get past it. We could have it much worse, for sure. I need to take some time to assess Abby’s needs and figure out what would most help her now.

I will never give up on her. Ever.

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.