A parent reflects on coping with her child’s rare tissue condition

My daughter, Marley, can’t sit still. Whether she’s bored during math class, enticed by a movie or reading a book, my ten-year-old is constantly moving. Knees up, knees down, feet tapping, legs swinging, bum bouncing, knees jiggling.

One day, after scolding her for twitching non-stop during a play, Marley burst into tears. “I can’t help it!” she sobbed. Heart-broken that I had lost my temper over something she couldn’t control, I decided it was time to seek help.

I took Marley to see Professor Patricia Woo, a pediatric rheumatologist at the Great Ormond Street Hospital for Children in London, England, where we currently live. After a few tests, Dr. Woo diagnosed Marley with a genetic connective tissue disorder called Ehlers Danlos Syndrome (EDS). Marley’s body is unable to produce normal tissues such as collagen, which are essential for supporting her skin, bones, blood vessels and other organs. As a result, her joints are extremely mobile and she can do the splits, kiss her elbows and wrap her legs behind her head. But this flexibility can also cause tears in surrounding muscles, constant pain and frequent dislocations.

That was my a-ha moment. I have EDS, too. When I was pregnant with Marley, a geneticist at Toronto’s Mount Sinai Hospital told me that my kids had a 50 percent chance of inheriting the condition. Marley had to be delivered via C-section a month early due to complications and we worried about her hips, which rotated outwards due to her breach position. But an ultrasound showed them to be normal. I was lulled into a false sense of security and forgot about my early symptoms.

Then at age four, Marley began to cry at night, grasping her legs, saying they hurt. She was twisting her ankle while doing simple things like climbing stairs. Once, her ankle was put in a cast for six weeks to let a bad sprain heal. Now, she hurts her ankle almost every week. I wince each time she runs down the stairs.

According to Dr. Woo, Marley can’t sit still because her body has difficulty figuring out where it is in space. For her, a hyperextended joint feels normal. As a result, she’s constantly trying to find a position that makes her feel stable and therefore pain-free. Because she doesn’t have enough muscles built up to help stabilize her joints, she finds it almost impossible to get comfortable and struggles to hold a pencil correctly.

Luckily, the staff at Marley’s school have been amazing at supporting her since the diagnosis. Marley’s teacher has devised ways to allow her to get up and move about the class, handing out books or collecting papers. She’s allowed to type half of her written homework and she sees an occupational therapist once a week to help strengthen her hands, improve her pencil grip and learn to reduce her penchant for wriggling.

At home, we do physiotherapy exercises as a family (my eight-year old son also has EDS). We race each other doing the crab walk, tip-toe around the living room and do calf raises in the kitchen. We swim every weekend to help strengthen our muscles without strain.

While there’s no cure for EDS, knowledge and strength-building are half the battle. There’s no need for pain killers as long as we can keep Marley’s muscles strong and teach her to be careful of things like walking on uneven pavement. While she’s not sitting still in her chair quite yet, I’m sure she’ll get there soon. In the meantime, she’s enjoying her status as queen of the splits amongst her friends.

 

Shandley McMurray is a Canadian freelance writer living in London, UK. She feels lucky to live in a city where there are so many Ehlers Danlos specialists to help her family.

Originally published in ParentsCanada magazine, July/August 2015.

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