Sanfilippo Can Get in the Way of Celebrating

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by Kelly Wallis |

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I recently received exciting news! My 26-year-old daughter, Abby, has been selected to potentially participate in a clinical trial for a drug to help manage or minimize symptoms of her disease, Sanfilippo syndrome. My husband inquired about the trial over a year ago, and they contacted us recently to move forward. We live in Houston, Texas, and the trial is being conducted in California. If Abby is accepted into the trial, we will travel with her to California three times.

The trial is funded by the Cure Sanfilippo Foundation, a nonprofit organization founded by two parents who have a daughter with Sanfilippo. The foundation’s goal is to raise awareness and money for clinical trials and research. My family occasionally hosts fundraisers through a community of support we created called Abby’s Alliance. We do whatever we can to contribute to the foundation’s efforts and hopefully find a cure one day. That necessitates a team effort.

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The news about Abby possibly being accepted into this clinical trial is encouraging. The drug being tested could possibly help with difficult side effects of Sanfilippo, such as stool issues, sleep issues, gait difficulties, and seizures. If it provides any comfort to Abby or makes her life any easier, it is worth participating in the study. But what if it does nothing?

I have written about the roller-coaster ride of parenting a special needs child before. The ups and downs involved, the hesitancy of getting too excited about progress, the discouragement of being let down. It is a lot and requires thick skin. It has made me more cynical and less optimistic. And these nasty effects are rearing their ugly heads right now.

The excitement about Abby possibly getting some symptomatic relief from her disease was so quickly squelched by negativity. I had thoughts like, “This will not work for her,” “She won’t be accepted,” “COVID-19 will prohibit this trial from even happening,” and “Traveling with her will be incredibly difficult.” Then the guilt set in because of the negativity. It is such a vicious cycle.

And can we just talk about the anxiety I feel about flying with Abby? Especially right now during a pandemic? I get nervous going into a store with her because I worry about her having an accident or being anxious about her surroundings. Thinking about the car ride to the airport to get to our flight puts me in panic mode. Walking through the airport, going through security, people staring at her, Abby being nervous — it is a lot to digest. In the end, will we jump through all these hoops only to be disappointed with the lack of results?

I realize these are not the most well-chosen words for someone who should be grateful for an opportunity like this. It is embarrassing to even admit, but again, this column is about honesty. I am scared to death to move forward with this, but I am obligated. How can I deny this chance of any sliver of relief for my daughter? I cannot. So many parents would love to have this opportunity for their child.

I should have an update on where we are with the trial by the next column. I will continue sharing my thoughts as we move forward. Wish us luck!

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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.

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