Prader Willi Syndrome – Kaia’s tale (so far)
Diseases
Endocrine Disease, Genetic Disease, Rare Disease
Issues and Challenges
JESSICA has encountered: Insurance Issues, Rare / Underserved Disease, Caregiving, Invisible Illness, Prior Authorization
My Story
Kaia is currently a sassy, baby-doll-loving, 5 year old, but that wasn’t always the case.
She was born in 2019 almost 2 weeks after her due date and after a long failed induction. Just a day after she was born, she was whisked away to the NICU and that’s the last time we saw her without some sort of cord or tube for a year. For a week we hoped her oxygen levels, her sucking, her ability to feed would get better. Unfortunately it didn’t, and that’s the 1st time I heard the words "Prader Willi Syndrome" (PWS).
The Nurse Practitioner said they were going to run some tests due to her symptoms, I made the tragic mistake of asking “What are you looking for?”. She proceeded to tell me about all the worst possible scenarios of PWS. We transferred to the local Children’s Hospital the next day. Looking back, she was mostly right about the infancy stage of PWS, but really could have worked on her delivery.
The next couple weeks were pretty dark. Waiting for the results, convincing myself she was just fine, “just needed some time to learn how to be a baby”, and the complete devastation of getting the results. Then it was the constant thoughts of all the things she would never be able to do, things we would never be able to do as a family, watching my friends with their new babies just living life, having their family under 1 roof, while we spent the 1st month in the NICU.
While all of this was awful, looking back, I am so grateful for all the support we had. Family and friends, of course, but also the support we had medically. Kaia started feeding therapy, occupational therapy, and physical therapy at 1 week old. She started early intervention therapy at home at around 6 weeks old. At our children’s hospital, the providers allowed us to be part of the process and a part of the decisions made. There is no way Kaia would be thriving as she is, without Early Diagnosis and Early Therapeutic Interventions.
PWS is a spectrum disorder and can affect many parts of the body and daily activities. Currently, Kaia receives speech therapy, physical therapy, and occupational therapy at school. We also do Hippo-therapy outside of school and during the summer we add outpatient speech and occupational therapy. She is thriving, but has to work so hard. The main symptom of Prader Willi Syndrome is hyperphagia – the constant feeling of insatiable hunger. We had not gotten to that phase yet, but we have noticed her increased interest in meal times, what other people are eating, and just food in general. Many families must have any food completely secured for the safety of their child. Right now, she is good with out of sight out of mind, but again things could change at anytime. Everyday we wait to see where this disease takes us next.
Shortly after diagnosis, I found Prader Willi Syndrome Association USA (PWSAUSA) and the Foundation for Prader Willi Research(FPWR). These organizations have done amazing things for our community, the research, the advocacy, the education, every generation has more and more hope because of the work they do. And since learning about their advocacy work, I’ve learned of the many other organizations working hard for rare disease patients and to help individuals learn how to advocate, such as Patients Rising.
My hope is that the sweet, happy girl that is my daughter doesn’t change. That she is able to reach her hopes and dreams, and that Prader Willi Syndrome will finally not hinder our children's’ future. We currently have a pipeline of trials for promising treatments for hyperphagia as well as other issues with PWS. There is also so much work being done in the government to change some of the biggest issues in healthcare. It’s important for me to share my story. To put a face to the people asking congress for change. They need to know we aren’t just a diagnosis or a statistic, we are real people and our children deserve to be able to live a full and happy life.
My Motivation and Inspiration
I have come to realize how lucky my family is to have a supportive network of friends and family, a children’s hospital with up to date information practically right around the corner, and a state that make the insurance process much easier than others. It frustrates me to no end that all of our families do not have the options and resources that we do, and many do not have the bandwidth or energy to fight for their day to day as well as make change for the future. I’m not sure where our PWS journey is going to take us, the joy and stress of the unknown, but while I have the ability, I feel it’s my responsibility to fight for the needs of my daughter’s future, but also be the voice for our families who just can’t. There are so many families that fought before us and who made our lives easier, and we need to pay it forward.
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