Spreading awareness about Sanfilippo has become our mission

Last week, my mom and I attended a fundraising event for the Cure Sanfilippo Foundation. It was an opportunity for us to spread awareness about Sanfilippo syndrome — a rare, terminal disease that has no cure — to many people who weren’t familiar with it. A slideshow with statistics, photos, and stories helped to demonstrate the disease’s cruelty, and many in the audience were crying while others appeared wide-eyed and in shock.

My sister, Abby, has Sanfilippo, which has taken her speech, mobility, and basic life skills. It’s incredibly difficult to watch someone you love lose everything to this disease. When we were younger and in school, Abby used to walk by herself to class, speak in full sentences, and browse on her computer independently. Now, she has no functional language left and can’t do anything without assistance.

It’s always striking to see the reactions of others when we talk about Abby to people who don’t know her. A typical 28-year-old might be getting married or building a career, but not Abby.

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Glenn O’Neill, a Sanfilippo dad and co-founder of the Cure Sanfilippo Foundation, also spoke at the event. Those listening to him reacted by shaking their heads, looking at their neighbors in disbelief, or wiping tears from their faces.

Every reaction was valid. For people outside the Sanfilippo community, it’s shocking to learn what this disease does. I remember reading about it and feeling the same emotions when Abby was going through the testing process that led to her diagnosis.

We were introduced to the foundation and its incredible Sanfilippo community in 2017. As we navigated through our grief, we asked every question we had and found comfort in knowing that we weren’t alone. At the recent event, I thought about that and was reminded of how important this community is.

We’ve watched Abby decline for close to 10 years. Seeing videos of Abby at her developmental peak as a child is heartbreaking. But when you live through this disease progression every day, the grief just becomes a part of you.

Watching other people’s reactions brought all of this into perspective for me. There are days when we’re overcome with sadness, knowing that we will lose Abby to this disease, but we’ll continue talking about her, spreading awareness, and advocating for all families whose lives revolve around this devastating disease.

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.