Rick + Erik: Journey through CdLS

Written by: Rick Oberg

As I write this, it's been 37 years, 156 days, and 8 hours since Erik arrived. And after everything we've been through, there's not a single minute of it that I'd give back. There may be a few I'd change a bit - such as everything we all suffered through when his anxiety came to the forefront a few years ago, but even that taught us a lot. And fortunately, with the proper meds, it's now under control (for the most part).

When Erik was born, there was not a lot known about CdLS (Cornelia de Lange Syndrome). We were still many years away from even discovering the gene mutation that caused it, so all we had to go on was the couple of pages about the syndrome in an old book at Boston Children's Hospital, and the comfort and comradery we found in the families we met through the CdLS Foundation. But we were very lucky. The day he was born, his pediatrician (who wasn't all that far from retirement) looked at Erik and remembered a case he had seen over 30 years ago when he was doing his residency. He set us up with an appointment with the genetics dept at BCH and six days later his diagnosis was confirmed. (That famous "light gets turned on in a dark room" moment!)

Hearing that your firstborn may only have 8 years or so to live is hard to hear. But as time went on, and more and more research was being done, the future seemed a lot brighter. I would've never believed on that day in 1986 that today Erik and I would be enjoying his favorite pastime - having a beer at a pub!

We are also lucky in that Erik is only mildly affected - while his speech never progressed beyond having a dozen or so words that a stranger could understand, he has what we call "Erikspeak;" a combination of verbal, sign language, and the ability to still make someone understand what he wants nearly 100% of the time.

For me, what I want the world we interact in to know is that the inability to speak, or a slightly turned up nose or lips, or a solid "unibrow," shouldn't prevent you from reaching out and interacting with that person. And I can say this backed by the untold number of family and friends who have repeatedly expressed not just their love for Erik, but how having him in their lives has enriched them and made them a better person.

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Many thanks to Rick for sharing this piece for CdLS Awareness Day!