Facing our fears about PWS

In the months since little Ari was diagnosed with Prader-Willi syndrome (PWS), Vy and I have consistently tried to remain optimistic about a difficult situation. But while we find hope in the efforts of researchers who are striving to develop new treatments for PWS, we also face many concerns about the future.

The good news is that we made it through the nightmare of the first few months. We soldiered through the endless string of hospital visits and medical appointments. We learned special feeding techniques and physical therapy exercises to address the developmental delays. And we figured out how to cope with the shock of the initial diagnosis, the avalanche of unexpected medical bills, and the shattering of so many dreams and expectations about parenthood.

As the situation stabilizes, however, we also have to start planning for many long-term challenges. PWS is a spectrum disorder with a range of potential outcomes, but even in the best of cases, it is almost always a tough and complex condition. Here’s what the medical literature says about what we’re up against — and what we’re doing about it.

The caregiver burden

PWS is a rare genetic disorder that occurs randomly and usually leads to intellectual disabilities and developmental delays. Of the many challenges it presents to caregivers, behavioral problems are often rated as the most difficult [1].

Children with PWS often experience debilitating anxiety, OCD, rigidity, and in some cases psychosis. They can be prone to emotional outbursts, autistic tendencies, and other antisocial behaviors that can limit their ability to integrate normally with their peers. For reasons that are not fully understood, many have a tendency to channel these feelings into self-harming behaviors like “skin-picking” in which they scratch themselves and pick at their scabs until they bleed.

All this is tough enough, but for most caregivers, the single most terrifying feature of the disease is hyperphagia, a clinical term for a sense of unrelenting hunger that often leads to overeating and morbid obesity. Typically beginning around 8 years of age, children with PWS become obsessively preoccupied with food and unable to feel full, especially with sugary foods that appear to trigger compulsive food-seeking behavior. Despite decades of research effort, no medicines or procedures have been successful in stopping this.

To manage the risk of overeating, “food security” in the home becomes paramount. Parents typically prepare special meals and sometimes even need to physically lock their fridge, pantry, and garbage to prevent overeating. They also need to deal with regular temper tantrums on food-related issues, as children with PWS are constantly “hangry” and may lack the intrapersonal and social skills to properly manage their feelings.

In addition to intellectual and behavioral issues, many children with PWS also have a high risk of various medical problems. Among the most common are growth hormone deficiency and hypogonadism, which impact over four-fifths of PWS children (ours included). As they get older, they also have a double-digit risk of developing hypothyroidism, diabetes, sleep apnea, scoliosis, gastroparesis, strabismus, and many other conditions [2].

Managing all these problems can be exceedingly costly, especially when you factor in the cost of medical treatment, home care, special education, and lost employment opportunities for caregivers. A 2021 study from Australia found that the average annual cost of caring for a child with PWS was over USD $40,000 [3]. This is roughly consistent with previous studies, as well as with our own personal experience here in Singapore.

All these challenges can put tremendous stress on caregivers. In a 2018 study that aimed to quantify the PWS caregiver burden, researchers found that caring for a person with PWS can be more emotionally taxing than dementia, Alzheimer’s, and traumatic brain injury — three conditions that are notoriously difficult to manage [4]. Many caregivers in the study described depressed mood, anxiety, negative romantic relationship impact, and sleep disruption.

Dark clouds and silver linings

I’m still less than a year into the caregiver journey, but I can already identify with all these feelings. While I’ve had some ups and downs in my life, this has easily been the toughest experience of my entire life. If it weren’t for Vy’s strength of character, which gives her a near-superhuman ability to weather this storm with equanimity, I would be completely lost.

On the plus side, Vy and I both have jobs with flexible working arrangements that allow us to give Ari the attention and care he needs. Vy has also had six months of paid maternity leave, and we were tremendously lucky to find both a full-time domestic helper that is great with Ari and appears to genuinely care for his well-being.

Given how the disease progresses, however, caregiver burden tends to increase over time, and I often worry about what it will be like to manage the health problems, hyperphagia, and other behavioral issues that are likely to arise in the future. I also worry about the financial costs, especially given the lack of adequate insurance options and childcare benefits that are available to us as expats in Singapore.

Thinking ahead, it seems probable that Vy and I will eventually have to leave Singapore and find a place that is better suited for Ari’s long-term needs. While we have assembled a care team here that is technically proficient, we have a growing sense that the US or Europe offers better insurance options and a stronger PWS community with deeper knowledge of the condition and more resources available to address it.

Navigating this potential transition will be tricky, but on my best days, I feel catalyzed by a sense of mission that has inspired me to work hard at the goal of providing Ari with the best possible care. I’ve also found the motivation to become involved in the broader PWS community, starting with a fundraiser for PWS research that will hopefully support the next generation of treatments, interventions, and services for people living with PWS.

As part of those efforts, my sister and I will be hosting a live fundraiser at a leading contemporary art gallery in New York on Sept 27, 2022. If you're in town at that time and interested in joining, it would mean a lot to us if you can make it!

References

[1] Jui-Hua Tsai, Ann O. Scheimann, Shawn E. McCandless, Theresa V. Strong & John F. P. Bridges (2018) Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best–worst scaling, Journal of Medical Economics, 21:12, 1230–1237, DOI:?10.1080/13696998.2018.1528980

[2] Data on incidence of these conditions varies across multiple sources; our primary source is data from the PWS Patient Registry, an initiative of the Foundation for Prader-Willi Research in the US.

[3] Baker, E.K., Arora, S., Amor, D.J. et al. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia. J Autism Dev Disord (2021).?https://doi.org/10.1007/s10803-021-05193-4

[4] Kayadjanian N, Schwartz L, Farrar E, Comtois KA, Strong TV (2018) High levels of caregiver burden in Prader-Willi syndrome. PLoS ONE 13(3): e0194655.?https://doi.org/10.1371/journal.pone.0194655