Caregiving is a full-time commitment, and every story is unique. Each family caring for a loved one with a genetic disorder has its own set of challenges, triumphs, and growth. One special story around the life of a caregiver is that of Kelly and Clementine. Kelly is a dedicated mother and devout caregiver for her daughter Clementine, who lives with Prader-Willi syndrome (PWS).
In sharing her story, Kelly opens a window into the unique challenges and triumphs her family has faced, shedding light on a condition that, while rare, deeply impacts the lives of those who live with it and the loved ones who care for them. Through their resilient journey, their story shares insight into what it means to face life’s obstacles with hope and resilience, a lesson that resonates with those touched by PWS and anyone navigating their own unique set of challenges.
Clementine’s Story
Clementine was diagnosed with Prader-Willi syndrome shortly after her birth.
For Kelly, her journey as a caregiver started the moment Clementine was diagnosed. As a mother of four, Kelly remained strong as her family’s world changed significantly with Clementine’s diagnosis. Their daily lives now involved new routines, special care, and a deep understanding of PWS.
In a recent video, Kelly opened up about her experience, sharing how her family of six has navigated life with PWS.
In the early days after Clementine’s diagnosis, their days were filled with uncertainty. With little immediate guidance, Kelly and her family found themselves diving into a world of specialists and therapies, from physical therapy to feeding therapy, in an effort to help Clementine grow stronger and attempt to achieve the developmental milestones that were delayed due to PWS.
Despite the demands, the experience fostered an incredible bond between Clementine and her siblings as they encompass a deep sense of empathy and protectiveness over their sister.
A Growing Challenge: Hyperphagia and Preoccupation with Food
Prader-Willi syndrome has many physical, behavioral, and cognitive symptoms. A hallmark symptom is hyperphagia, an overwhelming and insatiable hunger.1 As Clementine grew, this new challenge emerged, manifesting as a constant preoccupation with food, driven by a persistent hunger signal.
The constant need to monitor food intake requires vigilance and careful planning. For a family of six, the impact of the hallmark symptom of hyperphagia goes beyond simply locking the cupboards. It restricts the family’s ability to engage freely in activities, as food is so often present in social settings.
Navigating Emotional and Behavioral Challenges
In addition to the physical demands, PWS often comes with emotional and behavioral challenges.2 Clementine’s journey includes struggles with frustration and anxiety, emotions that can be difficult for any child to manage but are common in Prader-Willi syndrome. Kelly shares how they’ve had to develop strategies to provide emotional support, create safe spaces, and help instill confidence in Clementine.
Celebrating Daily Victories in Clementine’s Growth
Despite the challenges of PWS, Kelly and Clemtines’s story is also one of triumph and hope. Within their daily lives, there are moments of unrelenting joy and pride when Clementine accomplishes something new—whether it’s learning a new skill, navigating a social interaction, or expressing herself in ways that show her growth. “Those victories may seem small to others,” Kelly says, “but for us, they mean the world. They keep in mind that progress is possible and that Clementine is capable of so much.”
A Family’s Resilience
Kelly and her family have learned over the years that life with Prader-Willi syndrome requires patience, flexibility, and above all, resilience. Kelly emphasizes the importance of a strong support network, not just within the family but within the community and other families living with PWS.
Their story reminds the rare disease community about embracing life as it comes, focusing on love, and finding hope in each new day, regardless of any obstacles. Kelly acknowledges that while PWS adds complexity to their lives, it’s also taught them invaluable lessons about empathy, strength, and the importance of celebrating every step forward.
The Importance of Sharing Prader-Willi Syndrome Stories
Kelly’s openness about her family’s journey with Prader-Willi syndrome helps to raise awareness about PWS and offers a source of comfort and inspiration.
Through their story, Kelly and Clementine remind the PWS community that no matter how difficult the path may seem, there is always room for hope.
Prader-Willi syndrome may present challenges, but as Kelly’s story illustrates, it also reveals the incredible strength that caregivers, families, and individuals living with PWS possess. Each family’s journey with PWS may look different, but the shared experience of love, resilience, and determination remains constant.
For those navigating similar paths, you are not alone. The website, Support for Prader-Willi syndrome, provides other encouraging stories and additional resources for those living with and caring for someone with Prader-Willi syndrome.
Frequently Asked Questions
Is there a cure for Prader-Willi syndrome?
While there is no cure for PWS, research continues. More knowledge and understanding of the disease is helping to address the many challenges and symptoms associated with PWS. Since the disease was first discovered in 1956 and confirmed as a genetic disorder in 1981, progress has been made.
What are the primary signs of Prader-Willi syndrome?
The primary symptoms of Prader-Willi syndrome include muscle and growth delay, growth hormone deficiency, insatiable hunger, and various behavioral challenges such as compulsive skin picking, stubbornness, and obsessive-compulsive behaviors.
How can I learn more about PWS?
If you are interested in learning more about Prader-Willi syndrome, sign up to receive updates and learn how to get involved with the PWS community.
- Lionti T, Reid SM, White SM, Rowell MM. A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics. Am J Med Genet A. 2015;167A(2):371-378. ↩︎
- Lionti T, Reid SM, White SM, Rowell MM. A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics. Am J Med Genet A. 2015;167A(2):371-378. ↩︎
