Sunday, March 13, 2011

Genetics Diseases of Children Conference

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.


  1. We were incredibly lucky that Dean was brought to Children's Hospital Boston the day after he was born and was seen by Dr. Harris, a geneticist there. Dr. Harris knew about PWS because he specialized in dysmorphology and Dean had a lot of the physical characteristics of kids with PWS. That combined with his severe hypotonia and poor feeding, Dr. Harris said he was more than 99% positive Dean had PWS. He ordered the FISH and methylation tests and he was right. Unbelievable. Had we not seen Dr. Harris, I don't know what would have happened, because so many other specialists were swarming around his bay in the NICU and no one else had any CLUE what was going on. We potentially could have gone a very long time without a diagnosis. But I want everyone to have the opportunity that we had... it definitely needs to be in the newborn screen!

  2. I believe it should be part of the newborn screening. In my case it would not have helped with Taylor. She was not diagnosed until she was 3 and still only has a diagnoses based on the old criteria. She does not have PWS according to every genetics test there has been available but she has most of the symptoms. Our birth story was very similar to yours, Taylor was also a preemie so everything was blamed on that for quite awhile. We happened upon a doctor at the military hospital who had seen PWS in her residency and she was positive the second she saw Taylor. We have seen genetics specialists in several states and from 2 other countries, all have said that while genetically she doesn't show up having they wouldn't change her diagnoses due to all her symptoms otherwise. Taylor is 18 now. She missed out on GH. I can only imagine how much different things might have been for her if she was able to have it. the earlier the diagnoses the better so that treatment can start right away.

  3. Michelle,
    Was she tested for UPD using the Methylation test? You are the second person today to write to me that their child is only clinically diagnosed. Are you in touch with others with the same experience?

    I should add that Ellie was born only 1 week early because she was breech so the OB decided to do a section. Everyone kept asking us if she was a preemie though. So much to the point that I started wondering if we had the due date wrong and we took her out way too early.

  4. Olivia would have been diagnosed much earlier and it would have saved me a lot of grief and guilt... she was 2.5 months premature and I was at the hospital earlier that day with problems, but the doc sent me home. I knew something wasn't right and the minute I walked through the door of my house I was bleeding. Long story later, her apgar scores were 1,1, and 4 - had they known she had PWS within the next 48 hours, the whole course of her treatment would have been different; many issues could have been prevented or anticipated, and she would have been on GH sooner and out of the hospital sooner. We were there for almost three months.

  5. By the way, THANK YOU for the work you are doing.

  6. Love this Rachel!!! You guys rock!! Hoping Michelle has found her way to the Exchange site...??

    Keep up the great work!!

  7. Jim Kelly?! Shawn must have been thrilled! Now that that's out of the way, on the important stuff. Evan was seen by a geneticist, Dr. Ibrahim, a few days after he was born. She looked at him and said she would test for several syndromes, incl. PWS. I did some research too and before the results came back I knew that it was PWS. Gut feelings are more than just that huh?
    I think it's terrible that in some cases it depends on who sees your baby to determine what tests will be ordered. Screening shouldn't be left to good luck there should be standard protocol based on signs/attributes/symptoms. Just like there is standard protocol for treating acute events like heart attack and stroke.

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