If Danette Hillier could describe her life with one word, it would be “forgotten.”
After her daughter was born in February 2007, Hillier started to experience constant and intense pain, and had trouble sleeping even a few hours without waking up regularly.
The next year her condition deteriorated to the point she had to quit her job as a geologist.
It took six more years before she was diagnosed with Ehlers–Danlos syndrome, or EDS, a rare disorder that affects the body's ability to produce collagen, a protein that is a major component of connective tissues like skin, ligaments and blood vessels.
As the disease progresses those connective tissues deteriorate, causing intense pain, hyper-flexible joints and other complications, such as a brain disorder called Arnold–Chiari malformation, and tethered spinal cord syndrome.
“I think it's rarely diagnosed,” Hillier said. “They (doctors) focus on more common illnesses, instead of focusing on something that might be a rare disorder.”
Two years after her diagnosis, Hillier was prescribed strong painkillers to help manage her pain, but still experiences pain in her lower back and head.
Because EDS is so rare, it's barely covered in medical school, if at all, Hillier said.
She said one particular doctor's appointment brought her to tears out of frustration.
“I broke down in his office one day, and he said I should get to crisis immediately, and should probably spend some time in a psychiatric hospital,” she said.
There is no cure for EDS, but there are treatments available to help treat some of the symptoms.
For Hillier, one of those symptoms is a malformation of her spinal cord called tethered spinal cord syndrome.
Her spinal cord has fused to her spinal column, which affects its ability to normally move up and down the spinal canal, at the base.
To have her spinal cord de-tethered Hillier would need to see a specialist in Maryland, and pay around $65,000 out of pocket for the procedure. There are no surgeons in Canada who do the procedure, she said.
In addition to her physical pain, Hillier said the disease has been isolating.
Before her symptoms began, she ran five kilometres a day, but now spends most of her time at home.
“I think it was easier to run five kilometres a day than it is to get up and get my kids off to school,” she said.
Hillier said many of her friendships have faded away, and even relationships with some family members have fallen apart.
“They don't want to hear anything about it,” she said. “They don't want to be reminded of what might happen to them.”
EDS has genetic links, and one of Hillier's sisters has also been diagnosed with the disorder.
Hillier said she worries her two children could develop symptoms as they get older.
Because of those concerns for her own health, and her children's health, Hillier has come out in support of Kitchener-Conestoga MPP Michael Harris push to create a select committee that would review the co-ordination and funding for rare disease treatment in Ontario.
Hillier will put forward a private member's bill on Feb. 25, asking the provincial government to create the committee.
The committee would include six members of the Liberal government, two members from the Progressive Conservative opposition, which would include Harris, and one NDP MPP.
It would travel the province to hear from patients, their families and medical experts, and make recommendations to improve treatment for rare diseases like EDS.