The Challenges of Caring for an Adult With Sanfilippo Syndrome

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by Kelly Wallis |

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Sanfilippo syndrome is a rare, genetic disease that typically presents itself in children when they are either toddlers or adolescents. Children with this disease commonly exhibit hyperactivity, cognitive decline, sleep problems, diarrhea, and declining motor skills. Unfortunately, these individuals often pass away either before or during their teenage years.

My oldest daughter, Abby, has Sanfilippo syndrome, and she is 26. She has an attenuated form of the disease, which means it is slower progressing, resulting in a longer life span. She wasn’t even diagnosed with Sanfilippo until age 22. Her diagnoses up until then were autism, ADHD, and intellectual disability. Hindsight reveals that she likely peaked cognitively around age 5 or 6 and began declining slowly after that.

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One of the biggest challenges in caring for Abby now is her size. This is not to imply that she is obese; she’s simply adult-sized. She still ambulates independently, but her motor planning skills have greatly declined. Sanfilippo causes brain damage, and over time, this inevitably affects those skills.

Motor planning is the brain’s way of planning for movements, both big and small. Abby has had poor motor planning skills for many years, but she is exhibiting greater deficits in this area now. This is especially evident because she needs help navigating through the only house in which she has ever lived.

At times, she can be very unsteady, and she has occasionally fallen. Size plays a part here because the bigger the body, the harder the fall. And she doesn’t understand to brace herself if she falls. (This resulted in a very scary and painful face-plant within the past year.) So although she is encouraged to walk around if she desires, whoever is watching her must be cognizant of how steady she is on her feet on any given 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 tile in the shower itself is different from the tile in the bathroom. Even though it is flush and there is no difference in level at all, she hesitates to step “into” the shower.

She also has great difficulty stepping down, like out the front door of the house. Her depth perception is likely inaccurate, and this causes her to take a very long time to actually step down. Whoever is helping her must talk her through it and nudge her leg to tell her which one to move. Or we just wait it out. Although we all know she cannot help it, it can be frustrating, especially if we are in a hurry for some reason.

I have written previously about other various difficulties that come with 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 with time, and we will adapt. We are fortunate to still have Abby here with us, so we try to concentrate on that fact.

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.


Asmat Shaikh avatar

Asmat Shaikh

My Sons name is Obaid. He was diagnosed with San Filippo at 14 years of age. Until than his diagnosis was Autism spectrum disorder. He was all good until he was 15. Though there was decline on all the aspects, he was still manageable. After he turned 15, the progression has been very fast. he is almost 90 to 95% blind, cannot walk and has issues with Bowel movement. My husband is 24X7 with him. Obaid is extremally restless with sleeping issues. Care giving for such kids is a huge task. Now the state is such that it is getting extremely difficult even when both parents are looking after him. As you mentioned in your post, that We are fortunate to still have Abby here with us, so we try to concentrate on that fact. We do the same and pray to god each day to help us take good care of our son.


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