Meet Chelsea Coenraads. For the past 18 years, she’s been living with a disease called Rett Syndrome. If you’re like me, you hadn’t heard of Rett Syndrome until just now, which is why this month, Rett Syndrome Awareness month, is so important. According to RettSyndrome.org, the disease is a postnatal neurological disorder that affects almost exclusively young girls, causing problems in brain function that can result in loss of speech and basic motor skills in the hands. For Chelsea’s mother, and any mother of a child with the syndrome, this was her worst nightmare.
While the disease is rare, it still affects far too many families. Those with Rett Syndrome spend the first few months or even years of their lives growing as normal, so it’s not something that’s caught at birth. At some point, however, they start to regress, and that’s when parents and doctors realize that something is wrong. When the news hits, it hits hard, and families have taken to blogging about their journeys with the disease as a way of coping, and a way of making their stories heard.
Stories like Jessica’s. Jessica was born, like most children with the syndrome, fairly normally. There were a few complications but nothing her parents needed to worry about. Until Jessica stopped hitting the milestones she was supposed to as a child. This is how most people realize that something is different. Jessica’s mother explains her story on their blog:
Jessica went through the regression stage of Rett Syndrome, although it was very subtle and you had to know Jessica very well to notice that anything was amiss. She became slightly more withdrawn when with people outside of her immediate family, and her sleep became even more disrupted than normal; becoming very restless and distressed at night. She began the stereotypical hand movement and to lose the use of her hands, although this was very gradual, and looking back, we can see the hand movement in photographs long before we actually noticed it.
This is the first step. Then, the diagnosis. It’s always a shock, as parents have to adjust their expectations for their child’s life. Sadie, daughter of Stephanie and Andy Bohn, was diagnosed at around seven months old. Stephanie remembers the exact moment she found out:
There’s not a word to describe it. I lost my balance and I fell to the floor. And I’m staring at my daughter in her crib as I’m reading this on my computer thinking this does not add up. Because if that were true, then the quality of Sadie’s life would never be close to what we dreamed it would be. How is my daughter facing something like this?
While this is arguably the most traumatic part of the journey, it’s the everyday frustrations that really end up getting the families down. Another blog, called Living With Rett Syndrome, is written by a London mother of a daughter named Amy. She started the blog when Amy was two years old and already diagnosed, and she details the hardest parts of the day-to-day ordeal:
“No” is usually one of the first words small children learn to say clearly and forcefully, and withdefinite meaning. Amy can’t say “no,” but she can certainly make it clear if she doesn’t like something…There are lots of things I’d like to say “no” to as well, on Amy’s behalf. No to blood tests and tubes up her nose; no to therapists who make her lie on her tummy; no to doctors who haven’t read Amy’s notes and want us to repeat everything (“No! Read the notes! They’re in your hand!”); no to social workers who say that Amy “doesn’t seem any different to any other child of the same age.”
It’s tedious and disheartening, but it’s not set in stone. Not anymore, anyways. Recent research suggests that, since Rett Syndrome is reversible in animal models, the same results could one day be seen in humans. That’s why Chelsea’s mother, who we mentioned earlier, is working together to raise money and rid the world of Rett Syndrome. The Coenraads founded the Rett Syndrome Research Trust, and for the past 16 years has raised an astounding $44 million for the search for the cure.
More recent Rett Syndrome parents, like Stephanie Bohn, are wasting no time getting started on organizations of their own. Stephanie is working with Rett Syndrome Research Trust, but needs our help to raise awareness and get it off the ground.
Listen to these stories and understand their pain. Knowing that a cure is so close should be enough to inspire all of us to give what we can to get us there.
(Image via Shutterstock)