The morning of Sept. 11, 2001, was sunny and beautiful, and a perfect day for the dedication of a new playground at Saint Mary’s Hall. As I walked away after the ceremony, a teacher ran to tell me that a plane had flown into the World Trade Center. We huddled around the radio in the library as we tried to figure out what was happening, while more reports of the second plane and the attack at the Pentagon came in. I knew then that Sept. 11 would be life changing – but I had no idea how much of an impact that day would have on my family and our future.
Returning to my car, I found that an urgent message had been left on my voice mail from my five-year-old daughter Olivia’s doctor. As the first tower fell, I pulled over to call her back. “Olivia’s tests came back positive for Prader-Willi syndrome. I’m so sorry.”
I was stunned. Prader-Willi syndrome (PWS) was a devastating diagnosis. This rare genetic illness caused a myriad of problems, including cognitive impairment, anxiety, fits of rage, skin picking, and obsessive-compulsive behavior. Worst of all, the hallmark of the disease was insatiable, obsessive hunger coupled with a low metabolic rate – a real one-two punch, leading to life-threatening obesity. Kids with PWS would literally lie, cheat and steal for food, much like a drug addict seeking a fix. Families with a child with PWS had to lock up not just all food, but anything that was edible, including garbage and pet food. I felt like a lid had been slammed shut on Olivia’s future.
In my despair, I went to the Internet to look up the research foundation for PWS, only to find that there wasn’t one. The existing support group did not focus on research, and little had been done over the years to find the root causes or better treatments for the disease – let alone a cure. In fact, many people thought that genetic illnesses could not be cured, and that research was a waste of time.
As a mother and a doctor, I was simply not prepared to sit back and take this news without a fight. Out of this sense of determination, the Foundation for Prader-Willi Research was created in 2003. I partnered with two other mothers who also believed, as I did, that research was the key to our children’s future. We asked our families and friends for their help, faith, and trust, and in the first year we were proud to be able to fund four research grants.
From its humble beginnings on a card table in a mother’s kitchen, the foundation has grown into an international organization that has raised more than $6 million for PWS research. Theresa Strong, Ph.D., one of the other co-founders of the FPWR and the chair of its Scientific Board, has established an excellent grant process that has resulted in more than 90 funded projects to date. We have made great strides towards understanding how the genetic defect that causes PWS leads to its symptoms, and we are working with researchers and pharmaceutical companies to bring effective treatments to the people with PWS who so desperately need them. In recognition of this work, the FPWR was recently named as a leading patient advocacy group by the Clinical Trials Transformation Initiative, an organization dedicated to improving the quality and efficiency of clinical trials. The FPWR has also convened several conferences of experts in the field, including one at the National Institutes of Health, and recently established a global PWS registry, an important tool that allows researchers to identify trends and quickly find subjects when promising studies arise.
Olivia is now 19. She is a wonderful girl who has defied the odds to graduate in the top third of her class at Alamo Heights High School. She is currently a freshman at the University of the Incarnate Word, making her one of only a handful of kids with PWS who has been able to attend college. Yet every day, life is a struggle for her as she fights to control her weight, unable to eat a normal diet or to join in the many food-based celebrations that surround us. An experimental drug, Beloranib, has given her some relief from the constant thoughts of food that occupy her mind. However, the drug trial recently underwent a temporary hold by the FDA due to safety concerns. This turn of events was a very difficult blow to a community of parents who are desperate for anything that will help their children, and a sobering reminder that we have much work left to do.
On the morning of Nov. 14, we will come together at the Tobin Center for the Performing Arts and walk along the San Antonio River Walk to raise money and awareness for Prader-Willi research. We still have a long road ahead, but we will take one small step at a time towards the day that Olivia and the many others who suffer from Prader-Willi syndrome will have what so many of us take for granted – a bright future, full of choices, and free of the burden of PWS.
Readers interested in making a donation to the foundation can click here.
*Top image: Participants at the San Antonio One Small Step walk in 2014. Photo by Sergio Viroslav.
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