My sister with Sanfilippo is stable for now, so I’m taking a break

The rare disease community includes some of the strongest people I know. Upon entering this clan in 2017, after my sister, Abby, was diagnosed with Sanfilippo syndrome, I found comfort in reading works by other rare disease siblings and family members.

When I began this column in 2019, I was honored to make a small contribution to readers as well, by describing my life with Abby, who is 29. It’s been rewarding to share glimpses of my family’s life as we’ve adjusted to her condition.

Abby’s rare disease affects every aspect of her daily life. She was diagnosed with this neurodegenerative condition soon after we saw a sharp decline in her basic life skills. She’s continued that steady decline over the years, especially in her speech and motor skills.

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The current situation

When I first moved out on my own, I remember going home every couple of weekends and finding that Abby’s health and cognition had declined even more. She was quickly losing the words she had left and was more unwilling to walk on her own. I wrote several columns describing the emotions I worked through during this time.

Within the past year, though, Abby has been fairly stable. We’re thankful she doesn’t seem to be suffering and still exudes joy daily. I cherish each day I spend with her.

But the reality is that her future is unclear, as is mine. My family and I don’t know how much time we have left with her. My future could include becoming Abby’s caregiver, which often weighs on me. This disease is cruel in so many ways, including its unpredictability.

The only thing we know for certain is that Sanfilippo syndrome will eventually take Abby’s life.

There’s a future for this column. It’ll record my life’s most difficult days. It’ll hold grief and other emotions I’ll never really be ready to face. It’s hard to fathom that my family’s darkest days are ahead, but that happens in the rare disease community. The community brings me such peace, just knowing that it’s waiting for me, ready to pick up my family and me when we need it.

As I continue to live my own life and Abby remains stable, though, I’ve chosen to pause this column. Writing it has meant much to me, as it’s been a place to be open and vulnerable about the highs and lows of being a rare disease sibling. I can only hope that “Finding My Peace with Sanfilippo” provides solace to other siblings, as our Sanfilippo community is tiny but mighty! For now, I urge you to advocate for those who can’t advocate for themselves, be kind to others, and love as much as you can while you can.

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.