Helping My Terminally Ill Daughter Maintain a High Quality of Life

My daughter Abby has a terminal illness called Sanfilippo syndrome. This condition has stolen so much of Abby from our family. Witnessing her decline is extremely hard. It is difficult now to remember what Abby was like before her disease progression.

She used to talk in complete sentences. She used to have favorite TV shows, movies, YouTube videos, and books. She’s mostly lost her ability to make choices and voice feelings. It is sad, but it’s more than that: Her personality is not the same. Watching videos from her past is so difficult. Often, I forget how much she was once able to do.

Now, Abby paces up and down the halls at home most of the time. She does not sit down very much. I theorize it’s because that’s one of the few abilities she has left. I often wonder how she feels about everything. Does she know what is going on? Does she feel differently? Is she scared or completely oblivious to everything? In this case, I do believe ignorance is bliss.

Our family’s focus now is Abby’s quality of life and comfort. We rarely take her anywhere because she seems most comfortable at home. She receives applied behavior analysis (ABA) therapy three days a week. The ABA goal for Abby is to minimize the regression of her remaining skills as much as possible. The therapy also allows Abby to interact with someone besides her family members and hopefully have some fun at the same time.

She also receives music therapy one day a week. She has loved music since she was a baby. Since I am a music therapist, I am well aware of the benefits of music for her, so it was a no-brainer to add that therapy to her weekly schedule. The goal of music therapy are similar to ABA: to preserve her verbal skills. Abby will sing many more words than she says in conversation, especially when filling in lyrics to a song she loves.

Abby has a fantastic caregiver, Aly, who is with her each day and truly loves her very much. She is wonderful with my daughter, taking her to lunch some days and leisurely driving her around other days. They watch lots of Disney movies together and listen to (and sometimes sing) lots of songs together.

Overall, Abby appears joyful and content. Fortunately, her physical health is stable for now. She still eats what she wants and gets around fine. We are lucky in that respect. Hearing about what is to possibly come is very scary, but we will address it when it gets here. As long as Abby is happy and pain-free and has a good quality of life, that is all we can ask for at this point. She is such a gift to us!

***

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 Services, and are intended to spark discussion about issues pertaining to Sanfilippo syndrome.