This summer, at my 20th
high school reunion in Iowa, I was delighted catching up with old classmates. One of my
classmates, Kyle Rooney, has three boys under 3, and one of them has
a rare neuro-genetic disorder called Angelman Syndrome.
I had never heard of it
and discovered that Kyle had become an advocate for AS, as well as his son of
I wanted to learn more
about AS and asked Kyle to fill me on five facts he wants people to know
Angelman Syndrome is
named after the English pediatrician who first identified it, Harry
Angelman. It's a rare neuro-genetic disorder
that occurs in one in 20,000 live births.
developmental delay, lack of speech, seizures, insomnia and severe mobility
It is often misdiagnosed
as cerebral palsy or autism. Despite the challenges it presents, individuals with Angelman syndrome have a happy demeanor, laugh
frequently and are often smiling. My friend told me his son was diagnosed with Angelman Syndrome before he was a year old.
"As I'm sure you could imagine, it was a very tough day and attempting to put it into words wouldn't give it the gravity it deserves," he said. "To find out that our son will have 'special needs' his entire life was a lot for new parents to comprehend. It's the fear of every parent, but after grieving for our perceived loss, not his, we knew we were lucky to have discovered his rare condition early to capitalize on early intervention.
He said that telling the story of his child usually starts off sad and tragic. "But I assure you Madden is blessed in many ways," Kyle said. "He's limited in function but rewarded with grace, happiness and a loving family that will surround him with care and protection."
Despite the challenges it presents, individuals with Angelman syndrome have a happy demeanor, laugh frequently and are often smiling
Here are those 5 facts
that Kyle shared with me.
1. It's a very rare
genetic disorder that only affects the maternal side of Chromosome 15. One half of one gene is damaged or missing. Only the maternal copy
of Chromosome 15 is expressed in the brain. The deletion thus removes the
normal expression of this gene in people with AS leading to the severe
2. Many debilitating
genetic disorders and diseases occur in children all over the world that might
not ever have a cure or meaningful treatment. Angelman Syndrome is not
one of them. There will be a cure, and it has already been done in animal
models. Mice with AS have been treated with some exciting new
pharmaceutical treatments that rescued neurological function by expressing the
intact paternal side of Chromosome 15 that is undamaged but not expressed by
3. Early intervention is critical to maximizing
development. Although there isn't a
cure for Angelman Syndrome yet, there are some effective ways that provide
early intervention that will help children with AS. The earlier these
interventions can take place the more effective a treatment plan is able to be.
Children who have the earliest interventions tend to also develop the most. However, there is a wide spectrum of function among AS Children. Some walk, some never do. Most don't ever speak, but some have a
small vocabulary. Around 80 percent experience seizures. All
Angels need constant care their entire life until a cure or meaningful
treatment is found.
4. Colin Farrell's oldest
son, James, has Angelman Syndrome. Farrell has been an advocate and spokesman
for this rare disorder. He said in an interview, "When you're the
parent of a child with special needs, it's important to feel that you're not
5. There are many
ways to raise awareness of this rare genetic disorder and also to donate
toward research for a cure. There are two great organizations, Angelman Syndrome
Foundation and Foundation of Angelman Syndrome Therapeutics.
This month Kyle will be
kicking off an awareness and fundraising campaign with the support of the
Angelman Syndrome Foundation. You can read about the campaign and
you can support the cause at Kyle's personal web page. An endurance sports enthusiast (I knew him when he could endure way later hours of partying than myself), Kyle will take his energy and the passion he has for his son and trek up Mt. Kilimanjaro to raise awareness and funds for AS research. His friends, who don't have children with AS but love Kyle's family and will support him as teammates on the climb, have named Kyle team captain. You can follow their journey with #summit4angelman, www.summit4angelman.com and support Kyle here.