Prader Willi Syndrome: small victories for others are huge victories for rare disease families
Diseases
Genetic Disease, Rare Disease
Issues and Challenges
Kayla has encountered: Medicare / Medicaid Issues, Rare / Underserved Disease, Disability, Invisible Illness
My Story
I have come today to share my story. About a life that was built through grief, tears, and stress... but also through research, bravery, and advocacy. My first experience as a parent was very traumatic, to say the least. My entire pregnancy with our daughter was upsetting and confusing, as there was always a new problem showing up, with no real answers given. We were told repeatedly that all these problems happen, but it's only a coincidence they are happening at the same time.
When my daughter, Luella, was born she had low muscle tone and was diagnosed with failure to thrive. Despite these issues, the doctors and nurses initially thought she was doing great. Unfortunately, they missed several critical signs that were right in front of them. She was discharged from the NICU after only being there for six days, but she was only able to eat 10mls from a syringe. She was still requiring a nasogastric feeding tube to receive an adequate amount of nutrition. Luella still had all the same issues, including low muscle tone, an inability to suck, swallow, and breathe properly, and no desire to eat.
We followed up with our local pediatrician, but they also ignored the obvious problems that were occurring. When we would undress her for weight checks, her temperature would drop 4 degrees. She was also never awake or aware when the doctor was in the room. These problems continued until she was 3 months old, as I was questioning everything more and more each day. This was our first child, so we were laying our trust in the doctors' hands. Unfortunately, we did not know there was a hidden and rare diagnosis missing from the puzzle. Our local doctors were not knowledgeable when it came to her present symptoms, and many obvious signs were continually ignored.
When our daughter was 3 months old, we started early intervention to assist her with physical therapies and feeding difficulties. This led us to follow up with a Children’s Hospital a few months later to assess her struggles with swallowing. When we arrived, they were so concerned with her weight, floppiness, and inability to stay awake. They immediately admitted her to the hospital where we spent a full week doing testing to figure out the entire problem. At the end of that week, we were left with no answers and ruled out every single explanation for her panel of symptoms except one thing… rare genetic diseases. After about 6 weeks of waiting, we received the genetics results and the dreaded phone call. “Your daughter has Prader-Willi Syndrome. This is a chromosome 15 defect that she was born with. As a person with PWS begins to age, they will eventually never feel full and will be at high risks of obesity and possibly eating themselves to death. We are sorry that you received a late diagnosis. We can start interventions right away.” We were totally and completely blown away by this information. How could the doctors have missed such obvious signs of this?
Prader-Willi Syndrome is a chromosome 15 disorder that can be identified through genetic testing. This is typically done while in the NICU or shortly after discharge. A newborn with PWS may have low muscle tone, be unable to feed, or have a “floppy” body. For people with PWS, having an early diagnosis can be completely lifesaving. Although we received her diagnosis at 6 months old, the later diagnosis could have created a detrimental problem if her issues were more extreme. PWS is a spectrum disorder, meaning it is a broad disorder and the impact on each person can vary. Diagnosis is typically prompted by the physical symptoms seen in the newborn stage. Another way to receive diagnosis is through the newborn screening, however, in our state of Pennsylvania, Prader-Willi Syndrome is not included in the newborn screening. This screening can rule out diagnosing similar conditions that also present initially with low muscle tone and failure to thrive. The screening would reduce the instances of misdiagnosis and delayed treatment, showing great importance to the PWS community.
Living life with a rare daughter is extremely difficult some days. However, we know exactly what she needs to be strong, and we will never let her fail. Luella has come leaps and bounds on this journey. She is accomplishing things that the doctors never believed would be possible for her, yet here we are… with this beautiful miracle. She taught us patience and understanding when we did not know it was missing. She brought our families extremely close and made them into a village. When grief comes back to rear its ugly head, I sometimes sit and wonder what could have happened to Luella if our diagnosis had come even later than 6 months old. If Prader-Willi Syndrome was part of Pennsylvania’s newborn screening, we would have had a diagnosis by two weeks old.
We are truly blessed that she made it through those 6 months, and we are grateful for the healthy condition that she is currently in. With research and new knowledge of PWS, I know things could have gone much differently for our family. We are lucky to still have our daughter. This is why I am who I am today. I am brave, strong, and resilient because I had to be for my child. This is why I will constantly push to get one step closer to progress, to help other families who have felt the grief and the struggles of receiving a late diagnosis. I have met with the Senator of our local precinct to discuss adding Prader-Willi Syndrome to the PA Newborn Screening. I am also currently working towards a seat on the Pennsylvania Rare Disease Advocacy Council, to make a difference, to make a change, and to make sure that early diagnosis truly matters.
Luella made me an advocate for something I never even knew about. This journey taught us to recognize the challenges everyone else deems as small, are our milestones… and the milestones everyone else deem as the big things... those are our tear-wrenching miracles which never seemed possible. Receiving a Prader-Willi Syndrome diagnosis was scary at first, but seeing your child defy every single odd she is up against daily, that is the true blessing. This diagnosis created hope for the future, which is why I am now spending my time as an advocate… to give hope to other families starting out, and to create a platform for the change I wish to see in her lifetime.
My Motivation and Inspiration
My daughter, Luella
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