Attending a Sanfilippo conference rejuvenates my hope
As research continues, so do my desire for a cure, need to connect with others
I recently attended the ADVANCE 2023 virtual conference about Sanfilippo syndrome, which provided a wealth of information about the disease: reports from researchers regarding experiments and findings, news of potential clinical trials and therapeutic advancements, and tips from parents on raising children who have it.
As a parent of an adult daughter with Sanfilippo, I was astonished by the amount of research that’s been conducted and that continues to happen.
Living with Sanfilippo and feelings of isolation
Living in the world of Sanfilippo syndrome often feels isolating, much because it’s a rare disease. No one around me seems to know or understand what it is or how it affects my family every single day. I’m asked occasionally how my daughter Abby, who has the disease, is doing, but not very often.
When people cannot relate to something, they commonly avoid the topic because they’re not sure what to say. I’ve done it, too. But the silence makes Abby seem to be forgotten by many. Although I realize people aren’t trying to be intentionally hurtful or uncaring, it still stings.
Commiserating with other Sanfilippo parents
Communicating with other parents of Sanfilippo children is helpful. It’s validating when you hear someone express exactly what you’re thinking or feeling, and validating when you offer them the same.
Learning about a hack or product that worked well for another family is also beneficial. I recently ordered a special toothbrush for Abby that I learned about in a comment made by another Sanfilippo parent.
Connecting with other Sanfilippo families is helpful, but Abby has an attenuated (slower progressing) form of the disease, making for fewer commonalities between her and most other Sanfilippo children. At 28, she’s also older than most, so her needs are different. When I hear about younger children with Sanfilippo, though, I’m strongly reminded of when Abby was that age.
Hope does exist
After attending the conference and hearing about all the research and results, I feel hopeful. More people are being made aware of this disease every day, which will lead to more funding for more research. Increased funding also means more clinical trials, which will lead to discovering treatments for Sanfilippo syndrome.
Obviously, the ultimate goal is a cure. I feel more hopeful that one is coming. I realize it won’t happen in time to save Abby’s life, which is disheartening. However, every child with this awful disease, including those who haven’t been born yet, deserves a cure. Until then, my family will continue spreading the word about Sanfilippo, in hope that a cure will be found sooner rather than later.
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.