It was a terrible phone call that changed their lives forever.
Tracy and Rob’s six-year-old daughter had experienced some symptoms her parents could not make sense of. During a hot day at the beach with Grandma, Emily’s skin had turned purple after only a few minutes in the water. Then a couple weeks later during bath time at home, Emily had shrieked in pain when her legs went into the water and her skin turned blotchy and reddish purplish again.
“We had no idea anything was wrong, but we knew this wasn’t normal,” says Tracy.
They took Emily to her pediatrician who was immediately concerned and ordered a series of blood tests.
Emily was diagnosed with Raynaud’s Syndrome, a disease that causes outer extremities of the body to feel numb and cold in response to cold temperatures or stress. With Raynaud’s, smaller arteries that supply blood to the skin become narrow, limiting blood flow.
But Emily also presented with a second condition – Systemic Sclerosis – a very rare disease that involves the hardening and tightening of the skin and connective tissues. It harms the skin and structures beyond the skin, such as blood vessels, internal organs and the digestive tract. The pediatrician quickly set up referrals to specialists at HSC Winnipeg Children’s Hospital.
“Within a week our heads were spinning as we were in consultation appointments that lead to more referrals for CT scans on lungs, respirology, ultrasound on heart, physio for hands and feet and mobility testing, esophagus testing and I’m sure there was more. There were so many visits and tests in such a short timeframe all of which while trying to maintain a normal life of work and school,” says Tracy.
Emily does not remember a lot of the visits to doctors at the time, but she does recall not being able to zip up her jacket in kindergarten because her fingers weren’t working like the rest of the kids in her class.
Now age 14, Emily still lives with pain every day. It can be from ulcers on her hands, to sore hands and not being able to write, to sore legs. Emily hand size stopped growing at age six.
“I hide my hands because they are small and scarred… If I bang my hand on anything, the skin splits and ulcers start where the injury is,” says Emily.
She has had years of tests at HSC Children’s Hospital to support her condition that has no cure. The ongoing bloodwork from a young age has left her with a fear of needle pokes so her mom keeps a special spray to numb the area beforehand.
“Sometimes the brain still takes over and causes her panic attacks and tears at the thought of a needle,” says Tracy.
But Emily and her parents are deeply appreciative at the knowledge and care provided by the specialists and staff at the hospital. With the monitoring of the doctors, Emily continues to learn to deal and cope with the issues she faces each day. And continued research into medications assists with management of the condition.
“The support and care that is given to the children is priceless and that can’t be matched,” says Tracy.
Emily sometimes feels angry that she has the condition but says that anger motivates her to do more. Because of her medications she has days with lower pain when she can focus on being like any other teenager. She loves to sing and create videos. Before Covid-19 caused the shutdown of schools she was in school choir and Divisional Choir and was planning to participate in the school musical. Her mom hopes she will be able to do the activities she loves now that she is in Grade nine in high school.
The family says with the condition being so rare in children – Scleroderma Manitoba has never met another child with the condition – it continues to need research.
“This can only be done through support. With donations, maybe one day we can find what triggers this disease and maybe even a cure.”
For now, Emily continues regular follow up at HSC Children’s Hospital and does the best she can through her more challenging days. “She is strong willed and I’m sure she will overcome any hurdles,” says Tracy.