My Daughter’s Journey to a Diagnosis

My daughter Abby was 22 when she was diagnosed with Sanfilippo syndrome. We were devastated. Like any other significant event, things are now classified as “before” or “after” the diagnosis.

Abby was somewhat self-sufficient as a child. She could eat by herself and get dressed with some assistance. She could talk to me and answer simple questions. She could even get on her laptop to watch her favorite YouTube videos.

That all started to change in 2015. We noticed that she needed more help with things. Her language was less meaningful and her vocabulary shrank. In the spring of 2017, she started having toileting accidents at school. We saw three different neurologists, only to learn from an MRI that Abby had cerebral atrophy. Whatever was causing the atrophy was degenerative.

We still didn’t have a name. It was a mysterious illness.

I am a music therapist and was involved in a music therapy camp for special needs children during the summer. We were searching for Abby’s diagnosis at the time. One of the moms overheard me talking to a colleague about it. When I mentioned Abby’s regression, she suggested we get her tested for mucopolysaccharidoses (MPS).

MPS is a genetic disease caused by the inability to produce specific enzymes. There are multiple types that vary depending on which enzyme is missing. As my husband and I mulled over whether to go forward with the testing, I received a message from the mom.

She was at the national MPS conference and had seen videos of Abby that I had posted on Facebook. One was of Abby as a child, about 4 years old, singing “He’s Got the Whole World in His Hands,” complete with hand motions. The second video was of Abby at 22, struggling to form a sentence. She asked if she could show the videos to some doctors at the conference. They all agreed that Abby should be tested.

We felt like the stars had aligned. It was surreal. An answer to a prayer.

On Aug. 25, 2017, we got the call: Abby had MPS. It was a punch in the gut, but a relief at the same time. We finally had a diagnosis — words to type into Google. We could be more specific with doctors and move forward, but it was devastating to learn that we would probably outlive our child.

On Oct. 25, 2017, tests confirmed that Abby had MPS-III type A, otherwise known as Sanfilippo syndrome type A. We already had suspected that would be the result, but it’s still the most awful news a parent can receive.

This column, titled “Parenting a Sanfilippo Child,” will discuss Sanfilippo syndrome and our journey with Abby. It won’t always be a pleasant read. Many emotions accompany parenting a Sanfilippo child. But I am eager to write about our lives and share with you.

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Note: Sanfilippo News is strictly a news and information website about the disease. 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 Services, and are intended to spark discussion about issues pertaining to Sanfilippo syndrome.