My two schoolmates from Crazy Go Nuts University, Ashley Bristowe and Chris Turner, have a son named Alexander, who was diagnosed with a rare genetic condition called Kleefstra Syndrome. With fewer than a few hundred reported cases, it’s so rare that it only got that name a few years ago — when Alexander was first diagnosed, it bore the name 9q34 deletion syndrome, meaning that the chromosome known as 9q34 isn’t there. This greatly affects the development of a child, and according to the site for Alexander’s fund, it means:
Generally, a person with Kleefstra syndrome will exhibit developmental delay, learning difficulty or disability and low muscle tone. Other common features of the syndrome are: heart conditions, seizures, sleep difficulties, behaviour difficulties, strabismus or other unusual eye features, and respiratory infections caused by aspiration reflux/GERD.
But really, these are all just generalizations and describe the complications of many genetic conditions. The truth is that we just don’t know how Kleefstra’s syndrome will bear out in any one individual because the syndrome is so impossibly rare. Remember, there are only 150 documented cases worldwide.
Because it is so rare there is no clear prognosis and no treatment protocol for Kleefstra Syndrome. This leaves someone diagnosed with no idea of what to expect for the future and no plan for making the most of the life he or she was given.
It also means that Ashley can’t work any more: taking care of Alexander is a full-time job. This complicates matters, as the one place that has proven to be helpful in helping Alexander make progress well beyond the initial prognosis is the Institutes for the Achievement of Human Potential in Philadelphia. Ashley’s told me a lot about their program and how far Alexander has come with their help.
This sort of thing costs money — a lot of it — and with only person in the family pulling down a paycheque, they have to raise money. Hence Alexander’s Fund. Here are its goals:
Alexander’s family’s short-term goal is to maximize his achievements both physically and cognitively during the first six years of his life—a time shown to have the most chance for success long term. Therefore, the short-term goal of Alexander’s Fund is to fund the day-to-day therapy choices made by the family in the first six years of his life.
Since Alexander is making so much progress with the programs he is being exposed to, his therapy needs keep changing. This really makes long-term fundraising goal planning very difficult. That’s why the long-term goal of Alexander’s Fund is to create a community of on-going support—both financial and social—for Alexander as he grows. Ultimately, we also want to be able to offer financial assistance to other families interested in maximizing early intervention therapies for their developmentally delayed children.
If you’re in Calgary tonight and are looking for a good time for a good cause, go to Alexander’s Philly Kitchen Party! They’re planning to put the “fun” in “fundraiser” with live music, stand-up comedy, a live auction, cheese steaks, and more. As they say on the poster, help them send the hardest working 4-year-old in Hillhurst back to Philly!
