Journey Towards a Diagnosis: Diagnosing a Rare Form of Angelman Syndrome

Drew was born in 2005 to Brian and Suzie FitzGerald, and he hit all of the usual developmental milestones during his first few months in this world. He was holding his head differently, so the FitzGerald’s began physical therapy, which progressed well and resolved the issue. However, at seven months old, Drew began missing milestones, and they started occupational therapy, still not thinking that anything major was amiss. A few months later, a neurologist tested him for Fragile X syndrome, but that came back negative. An additional few months later, an MRI revealed a minute issue but the doctors were not concerned. At just over a year old, the FitzGerald’s were noticing more developmental delays, and they were referred to a Developmental Pediatrician in Cleveland. This doctor was familiar with Angelman syndrome and after a two-hour visit, she told the FitzGerald’s that she wanted Drew tested for it. At this time, Suzie was pregnant with the family’s second son, Peter. Two weeks after Peter was born, the results came in: Drew was officially diagnosed with uniparental disomy Angelman syndrome, a rare type of Angelman syndrome.

The emotional upheaval experienced by the FitzGerald’s during this time—months of trying to get a diagnosis, then learning the diagnosis while welcoming a second child into the world—may sound familiar to some, but it’s completely foreign to many. Brian Fitzgerald recalls, “When I got the call about his diagnosis while I was at work, I immediately started looking up information online to learn about Angelman syndrome, as we had never heard of it before. I looked at the possibilities and what to expect, and I was devastated and torn-up inside. My son will never be able to do this, or do that. I had an hour-long drive home, and on my way home I realized something…these were things that I wanted for Drew, not things that Drew necessarily wanted. At that point, I realized it will be okay, and that we can and will do whatever we can to make sure Drew reaches his maximum potential, whatever that might be.” The FitzGerald’s also had Peter tested for Angelman syndrome, which came back negative. Though devastated at first, Drew had already been going through various therapies, so the family felt like they were ahead of the game by having already started therapies so young. And a couple months later, within a week of his second birthday, Drew took his first steps—something that some individuals with Angelman syndrome do not accomplish in their lifetime.

Over the years, the FitzGerald’s experienced difficulties getting Drew the right therapies and treatments that he needed, and to this day they are still searching the best practitioners to support Drew. However, Drew continues to succeed in his current therapies and achieve developmental milestones that some thought he would never reach, and his parents never lose faith, hope or encouragement. The FitzGerald’s also took their love for their son a step further: Brian had a group of buddies who play paddle tennis, and over time had built it into a community-wide championship called the Blarney Cup. To raise awareness and support for other individuals with Angelman syndrome, they turned the Blarney Cup into a fundraiser for the Angelman Syndrome Foundation. In 2014, the Blarney Cup raised and donated more than $30,000 to the Angelman Syndrome Foundation, and the 2015 Blarney Cup—taking place on March 6 and 7, 2015—is shaping up to break past records of attendance and funds raised. But the FitzGerald’s never forget the true inspiration behind all of their efforts: Drew, and his ever-present smile.

March is the Month to Share YOUR Story!

Do you or your child have a rare disease? We want to hear your story. This month we celebrate all patients and their families who speak out on behalf of their condition to raise awareness, connect with others and inspire the community. Make sure to share your story with us by writing to us here.