This past week Shawn and I attended a conference hosted by the New York State Health department. The focus of this conference was on accelerating research into rare genetic disorders. There were many take aways from this conference so this topic may extend to many posts. The main reason we were so excited about attending this conference was to learn how to get Prader-Willi Syndrome onto the newborn screen in New York State.
Did you ever hear the phrase...'It is always in the last place you look'? This sums up how we came to know that Ellie has PWS. When she was born we thought we had a strong healthy little girl, for about a day, then the terrible realization that something is just not right began to sink in. Ellie was in the breech position so I had to have a c-section. She received an 8/9 apgar score and all seemed fine at birth. After screaming her lungs out when she received her first bath from the nurses she then fell asleep. She stayed asleep for days. We could not get her to wake up to eat. She could not latch on to breast feed. The OB then informed us that she had an extremely short umbilical cord. The next day the pediatrician heard a heart murmur that turned out to be a ventriculur septal defect. With these three things the pediatrician decided to run genetic testing. Horror set in....we were told we had to stay in the hospital until we could get her feeding. Luckily, a nurse brought us preemie nipples to use to bottle feed and she was able to feed with these. The doctor sent us home the next day. At our next visit a few days later we were told that the newborn screen and the genetic testing all came back fine. False Alarm...your daughter is fine. We then spent the next 2 years and 2 months having no idea why Ellie was just a little different then the other babies. After having her seen by the neonatologist, cardiologist, gastroenterologist, neurologist, geneticist and having countless blood tests and even an MRI she was finally diagnosed with benign congenital hypotonia. I looked at the neurologist and said 'so her diagnosis is that she has low muscle tone and you dont know why?' His reply, 'yes.' She was 18 months old at this time.
Of course this diagnosis was not settling well with me so I took to the internet. I studied about 500 disorders that have low muscle tone as a symptom and I kept coming back to PWS. I couldn't shake it. Ellie did not have many of the symptoms. In fact she only had a couple of them at that time - low tone and small feet but I felt in my core that this was what my daughter has been battling. I emailed a friend of mine who is a genetics counselor and asked her if she could order the test for PWS. She agreed and a month later she called me to tell me the test came back positive for Prader-Willi Syndrome. Ellie was 2 years and 2 months old - It was mother's day. We were finally able to stop looking for a diagnosis. Why was this not discovered sooner? Why did my child have to undergo so many tests, doctors poking and prodding, so much money spent by the insurance company and us searching for a diagnosis? Because PWS is not on the newborn screen or on the general genetic test. No wonder approximately 75% of people with PWS do not know they have it!
When we heard that this conference was taking place in order investigate increasing the number of rare disorders included on the newborn screen in NYS from 45 to 450, we knew we had to be there advocating for Prader-Willi Syndrome to be one of them. Increasing diagnosis, in our opinion,will not only help save other families from going through what we went through but it would also increase diagnosis, ultimately increasing our voice and our potential funding for research and support services.
This is why we attended this conference but what we left with was much more than that. We were able to make some amazing connections with leaders of other rare disorder non-profit organizations and learn from their successes. We were humbled by the work they have done and the work that we know we need to do in order to accelerate research into PWS. Getting PWS on the newborn screen, in order to increase diagnosis being just one component of this work.
Would you have been able to know about PWS sooner if the methylation test were included on the newborn screen or general genetic test? How would that knowledge have impacted your child's care?
Here is a picture of Shawn, Ellie and Shayna with the conference key note speaker, Jim Kelly - President of Hunter's Hope foundation and former NFL quarterback and hall of famer.