The challenges of caring for an adult with Sanfilippo syndrome

Sanfilippo syndrome is a rare genetic condition that usually presents in children when they are toddlers or teenagers. Children with this condition typically exhibit hyperactivity, cognitive decline, sleep problems, diarrhea, and decreased motor skills. Unfortunately, these people often die before or during their teenage years.

My eldest daughter, Abby, has Sanfilippo Syndrome and she is 26 years old. She has a milder form of the disease, which means she progresses more slowly, which prolongs her lifespan. She wasn’t even diagnosed with Sanfilippo until she was 22. His diagnoses so far were autism, ADHD and intellectual disability. Hindsight reveals that she likely peaked cognitively around age 5 or 6 and began to decline slowly thereafter.

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One of the biggest challenges in caring for Abby now is her height. That doesn’t mean she’s obese; she’s just adult size. She still walks independently, but her motor planning skills have significantly diminished. Sanfilippo causes brain damage and over time this inevitably affects these skills.

Motor planning is the way the brain plans movements, large and small. Abby had poor motor planning skills for many years, but now has greater deficits in this area. This is especially evident as she needs help navigating the only house she has ever lived in.

Sometimes it can be very unstable and sometimes it has fallen. Size plays a role here because the bigger the body, the harder the fall. And she doesn’t know how to prepare herself if she falls. (This has resulted in a very scary and painful facial plant over the past year.) So while she’s encouraged to walk around if she wants to, anyone watching her should know how steady she is on her feet every day.

Abby is also very hesitant when navigating certain parts of the house. This is especially true if there is a difference in the appearance of the floor. For example, there is a walk-in shower in her bathroom, and the tiling in the shower itself is different from the tiling in the bathroom. Even if it is flush and there is no difference in level, she hesitates to enter “in” the shower.

She also has great difficulty withdrawing, such as at the front door of the house. His depth perception is likely inaccurate, causing him to take a long time to retreat. Whoever helps him has to talk to him and nudge him to tell him which one to move. Or we just wait. While we all know she can’t help it, it can be frustrating, especially if we’re in a rush for some reason.

I have written before about other miscellaneous difficulties in caring for an adult with Sanfilippo. Most stem from the fact that she is adult sized and cannot be picked up and put where we need her. These challenges will likely change over time, and we will adapt. We’re lucky to have Abby here with us, so we’re trying to focus on that fact.

To note: News from Sanfilippo is strictly a news and information site about the syndrome. It does not provide medical advice, diagnosis or treatment. This content is not intended to replace professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of anything you read on this website. The opinions expressed in this column are not those of News from Sanfilippo or its parent company, BioNews, and are intended to spark discussion about Sanfilippo Syndrome issues.

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