David is thriving in Mainstay’s PWS program
By Lisa Anderson
In 1988, when our son David was 10, he was diagnosed with Prader-Willi Syndrome (PWS), a syndrome completely unknown to my husband and me. Despite genetic testing when he was born, his low muscle tone, weak sucking reflex, and delayed developmental milestones, no one knew what his disability could be. It was only determined when David’s pediatric neurologist and his wife, who was doing research on PWS, had a conversation and raised the possibility of that disease. Subsequent genetic testing, which was far more refined by then, confirmed the diagnosis.
Prader-Willi Syndrome is a genetic disorder that is characterized by an insatiable appetite and obesity, intellectual disabilities, and behavioral problems. A person with PWS is constantly hungry, even after having just eaten, and the drive to consume food can be life threatening due to stomach rupture, choking and other food seeking behaviors.
PWS is usually caused by the deletion of a part of Chromosome 15 passed down by the father and is very rare, with fewer than one in every 15,000 live births per year. There is currently no cure, but it can be managed effectively given the proper supports.
David attended public school until high school, at which time he was placed in an Approved Private School. However, David’s challenges increased as he got older. His eating was out of control, was severely depressed, and his temper outbursts were becoming more frequent and not well controlled by his medication. He eventually stopped going to school and, despite the help of several therapists, we were at a complete loss about what to do. Things were spiraling downward, and he was becoming dangerously obese.
At this darkest time, we got together with three other families with children with disabilities about the same age as David and decided to open a group home together. We wanted to have a say in the location and services available. We knew if we waited for the state to place them, it could be anywhere at all in and there was a waiting list of 600 people. Our intention was for us to act as staff, but one person in our group got in touch with Horizon Homes, which later became Mainstay, to see about additional staffing. They agreed to provide staff for seven hours a day who would help in the mornings and at dinner. In addition, parents would come and go freely and would make sure all residents were doing well.
It took David a while to want to live there, but moving his computer to the house helped and he was soon comfortable living with his friends, going for walks and to the movies with them, and generally socializing.
Unfortunately, staff were increasingly concerned about David’s uncontrollable eating, and we decided to have him admitted to the PWS Program at The Children’s Institute. We had tried to accomplish this in the past without success, but having documentation from Mainstay was helpful.
While David was in the program, The Children’s Institute and Mainstay collaborated on setting up a new home specializing in PWS. Some of the staff from his former location moved with him to the new house, and everyone who worked there completed the PWS training program at The Children’s Institute. Mainstay made the transition seamless, and David felt at home from the start.
David has thrived with Mainstay and has maintained a normal weight due to the locked kitchen, specific meal plans, and regular exercise routines, in addition to encouragement and support from his staff. He works out on the treadmill in his home gym twice daily. Every week David and I get coffee from Dunkin and take it to the park near his house. We take a lovely walk there and frequently call one of his brothers who lives in California so they can catch up. We chat with staff and David’s housemate if he’s there when we return, and it’s an important part of the week for both of us. I feel completely welcome there and enjoy the visits.
I can’t say enough about David’s staff. They treat him like family – they take him to a flea market and go clothes shopping, the movies, Kennywood, and sometimes staff even bring him to their homes for holidays. He enjoys the Day Program that was created for him where he uses a computer at the library most weekdays, and they are planning trips to the Aviary and to go fishing. Essentially, Mainstay makes David’s wishes happen while keeping him safe. He has strong support from staff, managers, and everyone involved in his care, and they make the house a happy, healthy, and vibrant home.
I am so grateful to Mainstay for making David their first ever client with PWS and addressing his needs so fully. I don’t know where we would be without all the supports that are in place. Our family has been incredibly fortunate.
There has been an historic breakthrough very recently in the approval of Vykat XR to treat the hyperphagia that is associated with PWS, which is the most disruptive part of the disease. It has the potential to change lives for people who must live with locked kitchens and other restrictions to control their insatiable appetites, and to help eradicate the struggle of living with the disease. It came about because of funding that was directed to research into PWS and the clinical trials which must continue in order to find a cure.
To this effect, we need to send a strong message to our legislators regarding the devastating impact of the funding cuts to NIH. These cuts threaten the future of research and hinder scientific progress by putting PWS (and other) clinical trials at risk. If these cuts are not reversed clinical trials will be cancelled. People living with PWS and their families will not have access to new developments and treatments for PWS and will be denied the possibility of finding a cure for this disease.
Prader-Willi Syndrome Awareness month is important because it raises awareness of this rare disorder and helps educate the public, healthcare professionals, and policymakers about its challenges and need for support. It serves an advocacy role in supporting people with PWS, including access to care, education, and resources. It encourages fundraising and donations to support research into PWS with the goal of finding better treatments and ultimately a cure. Additionally, it helps establish a sense of community and the empowerment that arises from that sector.
Prader-Willi Syndrome awareness has come a long way since David was diagnosed, but there is much more to be done before there is a cure for this disease. However, we can take great satisfaction in knowing we are making progress and are improving the quality of life for people with PWS every day.