How We Learned Maggie's Diagnosis

There is no easy way to learn that your child has a severe, lifelong disability. The process of discovery is different for each child. Some parents never learn the reason for developmental disabilities, and those must be the most difficult cases. Our story was a dramatic rollar-coaster for us, but typical in many ways for parents of Angels.

Between six and nine months, we knew that Maggie's development was delayed, but reassured ourselves that babies grow and develop at their own pace. We became more concerned as we approached her first birthday. Maggie had not yet started crawling and had just learned to roll from front to back. She was just beginning to sit up unassisted. After her one year check up, our pediatrician referred us to the Early Intervention Program. We were living in Missouri at the time (Erin was working to register voters against Bush), so we made arrangements to move back to Ithaca. Before leaving St. Louis, we scheduled a visit with a pediatric neurologist. At the time, we suspected it might be something along the autistic spectrum. The neurologist was very kind and took time to talk with us about our concerns. He also raised the possibility of Rett Syndrome and suggested genetic testing and an MRI.

Naturally, our first reaction was to go and find out everything we could about Rett Syndrome. We found ourselves assessing Maggie's every move and comparing her to the descriptions of the syndrome. It drove us a bit mad, but it was a process we would repeat at least twice more. The genetic tests were performed more to rule out a number of rare syndromes and the vast majority of kids get normal test results. We expected to get a normal result. Instead, the genetic test came back positive for a deletion on the 15th chromosone using a FISH test. (More explanations of this medical stuff, see the links to AS Info.) The neurologist gave us a diagnosis of Prader-Willi Syndrome. Of course neither Erin nor I had ever heard of PWS before. We immediately started researching and found the stark medical descriptions on the internet.

We were devastated. We could no longer just tell ourselves that this was a phase that she would grow out of; a time when she put us through an unnecessary scare. Thankfully, in addition to the hard medical facts that we found on the internet, we also came across the Prader-Willi Association (USA). The day after talking to the neurologist, Rob called up the association and talked to the "new member" coordinator. What an incredible group. They sent us an information packet and put us in touch with parent mentors in New York.

With the Prader-Willi Syndrome (PWS) diagnosis, we went through grieving, but soon found hope through the association's parent contacts. We quickly learned that other parents provide the best source of support and information about the syndrome. Our pediatrician is wonderful, but readily admitted that he was no expert in a rare disorder like PWS. Through the Association, we found a specialist (a pediatric endocronologist) in Long Island and scheduled an initial appointment.

Based on what we had read about PWS in infancy, we found ourselves hoping that Maggie had a "mild" case. She would be one of those high achieving kids.. The clinic specialist initially agreed with us that Maggie was a highly unusual case for a child with PWS. She had good muscle tone in her legs, was not a floppy baby at birth and has nursed incessantly. (Most babies with PWS are so weak that they are unable to nurse and must be tube fed.)We expected a rosy prognosis so we were totally unprepared for the news that we got at the office

Instead they brought in the genetic counselor. They explained that the lab that had done the genetic testing performed a FISH analysis, but not a methylated test. While we had heard about Angelman Syndrome in our research of Prader-Willi, we had not read much about it. Maggie did not exhibit the clinical signs of PWS, so they suggested a follow-up methylation test. (Methylation shows the parental source of the chromosonal deletion. If it is from the father, it is PWS and if the deletion is from the maternal chromosones, it is AS.) We left the office shaken and back on an emotional rollar-coaster.

We did not get the results back for several weeks, but in that time we became certain that Maggie did not have PWS. We lost the hope that Maggie would be a part of the new generation of high achieving children with PWS. We grieved all over again. Subconsciously we told ourselves, well if they got the PWS diagnosis wrong, maybe they got the whole deletion thing wrong too. We were angry that the lab would issue a PWS diagnosis without methylation. At the very least, they should have mentioned that a deletion in this region is associated with PWS and AS.

We got the AS confirmation the day before the presidential election. As much as we thought we had come to accept that Maggie had AS, getting the confirmation was hard news. We were devastated all over again.

It was again easy to get wrapped up in the cold medical descriptions. The prospect that our daughter would never verbally communicate with us was incredibly painful. We thought about the seizures that hit many kids by the time they are three. We thought about all the limitiations created by the severe disabilities. We still think about them. But through our ups and downs, Maggie has remained her own beautiful self. She is so happy to get tossed in the air, spun around or nurse non-stop. We are still learning what it means to parent a child with AS. We still feel the raw emotional grief of the diagnosis. But we have a diagnosis, and have begun to build the network of contacts with other parents and carers that is so critical to us and Maggie.