Advocating for the needs of Prader Willi Syndrome families
Diseases
Cancer, Genetic Disease, Rare Disease
Issues and Challenges
Jennifer has encountered: Access to Expert Providers, Access to Medicine, Copay Issues, Insurance Issues, Rare / Underserved Disease, Caregiving, Gaslighting, Medical Discrimination, Prior Authorization, Step-Therapy / Fail First
My Story
My seven-year-old daughter was born with Prader-Willi Syndrome, abbreviated PWS. This is a rare genetic disorder that is complex, global, and progressive. In infancy, Jojo showed the typical signs of PWS: extremely low muscle tone, lack of interest in and ability to eat by mouth, as well as lack of activity and crying. We used a feeding tube to feed her for the first 6 months of her life and started physical, occupational, and speech therapies from her second day of life. Luckily, we found Prader Willi Syndrome Association USA and our state chapter. They have been beacons of hope and support from the NICU through to the present.
Jojo is now a second grader and continues to have a rigorous therapy schedule. She is friendly, empathetic, curious, thoughtful, and silly. She has also developed a heightened interest in food, anxiety, skin-picking, ADHD-inattentive type, cataplexy, hypothyroidism, and excessive daytime sleepiness as well. All of these factors negatively influence her ability to function as a typical seven-year-old despite her hard work and all the resources and support we have access to.
My husband and I know that these issues may persist, or worsen. People living with PWS exhibit emotional and behavioral dysregulation sometimes to the extremes of self-harm and aggression. The most well-known symptom of PWS is hyperphagia; an inability to feel fullness, and an intense drive for food. Hyperphagia usually begins between ages three and nine. My daughter is in that window. This, coupled with a metabolism that is at least one-third lower than a typical person, leads to life-threatening obesity. Diet must be carefully managed by caregivers. Left unsupervised, a person with PWS could eat to the point of stomach rupture and death. I'm sure this sounds horrible to anyone, to a parent, it's terrifying. There is currently no treatment for the monster that is hyperphagia or the debilitating sleepiness and behavioral struggles of those living with this syndrome.
My hope for Josephine’s future is pinned on the wisdom and experience of those ahead of me on this journey, and the unprecedented number of treatments for PWS in clinical trials right now. This is why, in addition to being a PWS parent, I am an active PWS volunteer and advocate. I support families through the current struggles of PWS and celebrate our children and community. Most importantly, I work to change the future of people living with PWS now, and in the future. I share my story with elected officials and help others share their stories to amplify the voice of the entire PWS community so that lawmakers, regulators, and other important agencies become aware of the lived experience of PWS, and how we feel they can help our families. I see it as my purpose to turn data points and statistics into names, faces, and hopefully motivation to stand beside us and work with us to make the world a better place for people with this and other rare or life-threatening diseases.
My Motivation and Inspiration
There are so many in our community who do not have the bandwidth, energy, or resources to do advocacy work on top of caregiving and providing for their family. I feel strongly that those of us who find ourselves able to take on this work be as inclusive and collaborative as possible. When I go to Capitol Hill, I try to think of all the people we know in the PWS community, whether they are individuals with PWS, adults, children, siblings, or parents, and how I might create an impact there for all of them. I think of the generations that came before us and hope to honor their struggles and hard work by creating change. I think of the generations yet to come and how the work of our current PWS advocates can positively impact their lives not yet lived.
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