What is Rare Disease Day?
Approximately 30 million individuals in the United States are affected by a rare disorder or disease. On the last day of February every year, hundreds of patient organizations from more than 80 countries and regions worldwide conduct awareness-raising activities to celebrate Rare Disease Day.
The ASF is honored to celebrate Rare Disease Day with the AS community, Global Genes and all other organizations serving the rare disorder and disease community.
Here’s how you can get involved.
“Care About Rare”
Share your favorite photo of your loved one with AS on social media using these special frames to build awareness of AS and rare disorders, and encourage your friends and family members to do the same—it only takes a few steps! Here are some sample frames:
Share Your Family’s Story with Global Genes Community
Share your family’s journey for a diagnosis with Global Genes and the rare disease community. Global Genes shares these family stories through its various channels, including newsletters, its website and social media, to raise awareness of rare diseases and disorders.
Keep the momentum of International Angelman Day going!
- Wear your AS- or ASF-branded clothing around town and have conversations with as many folks as possible—and direct them to Angelman.org!
- Ask your employer, friends and neighbors to set up change jars at their offices, and collect funds for AS research.
- Change light bulbs to blue—the traditional color for AS awareness—and tell people why!
- Do a balloon release in honor or memory of our loved ones with AS.
Journey towards a diagnosis: The FitzGerald’s and the Bjorklund’s
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 and 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.
Anika and Sophia Bjorklund, identical twins who are now 6-½ years old, were born premature and spent 25 days in the NICU because of feeding issues. Over time, they were monitored by pediatricians and despite parents’ Francesca and Eric’s concerns that their daughters were missing developmental milestones, the doctors indicated that they were simply “delayed.” Fast-forward 18 months and the girls were diagnosed with cerebral palsy. They were also diagnosed with autism, which remains a diagnosis for the Bjorklund twins. While living at West Point, and while Eric was deployed, Francesca met with a team of doctors there, who suggested they conduct genetic testing to “rule anything out.” The girls had already started a variety of therapies—including physical, speech and occupational—because of the cerebral palsy diagnosis, and they were progressing well physically but not well with fine motor and oral motor skills.
It was then that the diagnosis of deletion-positive Angelman syndrome came back, a couple days apart, for each of the girls. At first, Francesca experienced feelings of frustration and sadness after realizing that she and Eric may not have the “perfect children” they always envisioned. But then, sadness turned to determination and perseverance, as both parents focused on the many positive attributes of the girls—the girls are such happy individuals, and no disability or diagnosis was going to come in Francesca and Eric’s way in providing the twins with a life full of possibilities and experiences. Since the diagnosis rendered little changes to the current therapies the twins were undergoing, the Bjorklund’s focused on their ultimate goal: what should we be doing to ensure our girls reach their full potential?
The answer was simple, according to Francesca: our kids can do what other kids can do; it just takesmotivation, a lot of very, very hard work, and a plan to get there. Francesca surrounded herself with positive people, and connected with the Angelman Syndrome Foundation for resources and to find other AS families in her area, an experience that she says was invaluable during this difficult time of transition and learning. First, because they were twins—two toddlers to carry around rather than just one!—Francesca focused on walking. The girls, by nature, are very determined individuals, and at 2-½ years old, Sophia took her first steps out of her Kaye walker. Two days later, Anika joined her. “Without a hope, a dream, or a vision, you’ll never get there,” said Francesca. “You have to craft that vision, that path, because it is all about options and possibilities and choice. Don’t let anyone tell you that your kids can’t do something—they can, and with the right plan in place, they will.” And it is that mantra that continues to drive the Bjorklund family today, which was again recently tested by the twins beginning to learn to ride bikes at 6-years-old. “Pedal Perfect” became a dream and with the help of AMBUCS, adaptive bicycles were outfitted. As the girls have been learning to ride in the cold winter the glow on the girls’ faces is beyond enormous—it literally lights up the neighborhood, and fills the Bjorklunds with even more hope and promise for the future: the Bjorklund twins, with the right energy and support from their parents, are driven to excel at anything they put their minds to.