Research Participation Is the Best Gift for Angelman Families

The holiday season is officially here. With the focus on gift-giving, I’m thinking of an ideal gift for Angelman families: participation in clinical trials or other studies. Unlike regular presents that may soon be forgotten, research participation is the gift of a lifetime.

Clinical trials are the backbone of research that can improve quality of life for those with Angelman syndrome (AS). Trials and other studies may focus on anything from sleep to hyperactivity. Since my 12-year-old Angel, Juliana, was a toddler, we have partnered with AS researchers to complete various trials.

Juliana browses in a gift shop as she travels with her family to a clinical trial in North Carolina. (Photo by Sabrina L. Johnson)

The trials aren’t difficult, and usually just involve some testing and interviewing. For one, we had to track Juliana’s sleep patterns.

While every study is different, the common thread is finding ways to improve the lives of those living with AS. Added benefits of participation are that we have gained helpful information about Juliana and learned new or upcoming practices.

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Doing our part

My husband and I decided early on that trials would be a part of our journey. We may not be able to match large donations or trek long miles to raise money for research. Our way of supporting these endeavors is carving out time to help the experts understand the medical and emotional challenges we face. Their discoveries lead to new information and solutions that make lives better.

For example, years ago I participated in a study that resulted in the article “Maladaptive behaviors in individuals with Angelman syndrome,” published in the American Journal of Medical Genetics in 2019.

The focus was on the stressors that Angelman caregivers face. I was surprised when I realized that my feedback was compiled into the research study. The data will be used to target future therapies. In a small way, I will get to be a part of those improvements.

I don’t remember much about the study, other than answering a lot of questions. I do remember that my interview was scheduled at one of the worst times for my family. We had water damage to our house and were in the process of mold remediation and finding a place to live in the interim.

My interview was scheduled long before our water damage occurred. Although it wasn’t convenient, I kept my appointment. Sometimes it takes a little sacrifice to make a difference, but I believe it’s worth it. The hours I committed to simply answering questions will impact Angels I’ll never know.

For something that cost me nothing but my time, I can’t think of a greater gift to give.

Note: Angelman Syndrome News is strictly a news and information website about the disease. 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 Angelman Syndrome News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Angelman syndrome.