A young woman living in Nelson has a rare illness — Ehlers Danlos Syndrome — which causes great suffering along with challenges with treatment.

A young woman living in Nelson has a rare illness — Ehlers Danlos Syndrome — which causes great suffering along with challenges with treatment.

Rare illness causes treatment, funding difficulties for Nelson’s Katrina Fontaine

A young woman living in Nelson is struggling with both an extremely rare illness and finding funds for her treatment.

A young woman living in Nelson is struggling with both an extremely rare illness and finding funds for her treatment.

Katrina Fontaine, 26, has Ehlers Danlos Syndrome which is a genetic condition affecting the collagen in her body.

Collagen makes up the body’s connective tissue, which holds or “glues” the body together.

“All my joints are quite weak,” says Katrina. “The connective tissue around my head isn’t working so my skull is actually sinking down onto my neck and compressing my brain stem. In the middle of my neck, it’s compressing my spinal cord and then at the base of the spine I have a fatty tumour which is kind of tethering my spinal cord.”

Because of these neurological issues, Katrina spends most days in bed either at home with her cat Elmo by her side — or in the hospital. She cannot eat because of difficulty swallowing and poor function of her stomach. The compression of her brainstem causes regulation problems with her heart rate, blood pressure, and body temperature.

And the compression of her spinal cord causes weakness, numbness and pain.

“Any autonomic nervous system function you can think of is screwed up in me,” she says. “I can’t stand up for more than a few seconds. If I am standing, I am generally leaning against something. I can’t actually sit up for any length of time because my neck is collapsing so for me, it’s most comfortable to lie flat.”

Katrina was diagnosed in the United States with the rare condition in October 2012 after having no answers to her symptoms and needing many surgeries over 15 years.

At age 7, she started experiencing unexplained fainting with exercise.

“They never were able to find any cause for it. I just decided to get on with my life. It’s going to affect me and I might as well do something with my life and just deal with it,” says Katrina.

While at the University of Waterloo studying to become a pediatric social worker, Katrina endured hospitalizations, multiple surgeries, unrelenting widespread pain, fainting episodes, serious infections, blood disorders, and more.

“When I started working [after her degree] it was pretty much unbearable so I ended up having to switch to a job where I could sit all the time,” she says. “I absolutely loved that job.”

But in September of 2012, she had a bad fainting spell and her coworkers found her in the bathroom turning blue. Since then, her health has deteriorated.

By Katrina’s side is her mother, Lorraine Fontaine. The young woman moved back from Alberta where she worked for several years so her mom could help care for her. From Trail, the family has relocated to Nelson and is in the care of a “great health team,” says Lorraine.

Seeing her daughter go through such intense health problems that her life is restricted has been a struggle for Lorraine.

“All her friends are doing everything that other 26-year-olds do — and she can’t do any of it. She tries to go out and dress nicely but she’s got a tube out of her nose and a neck brace… She gets left out of a lot of stuff too spending so much time in the hospital and with emergencies, it just breaks my heart,” says Lorraine. “It’s been hard. It’s a struggle.”

To add to the stress of poor health is a complex world of disagreeing specialists, out of province and country care and therefore, wading through red tape to get medical treatments covered.

“We just can’t cut through it. We tried seven months of continuous trying, talking to people, doctors, government but we can’t do it. We just can’t break through that red tape.”

Bills are mounting. Among the expenses are ambulance fees to get to Kelowna for procedures not offered locally as well as feeding tubes at a cost of $1,200 a month.

And now, Katrina has a chance to receive three neurosurgeries unavailable in Canada to fix the compression of her brainstem and spinal cord. These surgeries won’t cure her but would increase her quality of life.

Her American surgeon, who has treated Ehlers Danlos Syndrome patients from 40 different countries and completed over 800 operations with great success, predicts an 80 per cent return of the functions lost, she says.

The surgeries have never been performed on a person with Ehlers Danlos Syndrome in Canada. But Katrina doesn’t qualify for out-of-country funding because of a doctor’s contradicting diagnosis.

Referred by her geneticist, she needed to find a neurosurgeon to sign off on the American procedure to qualify for funding.

“Nobody would take my case,” she says. “It ended up back in the hands of a neurosurgeon who said it wasn’t even possible to have these conditions… He wrote a letter to the out-of-country funding panel saying there was nothing wrong with me, it was all in my head.”

This letter prompted a review of Katrina’s case despite the physician never meeting her.

“It’s frustrating. There have been so many roadblocks, just one after another,” she says. “There have been other cases in Canada with these exact issues happening as well so I kind of knew from their cases what to expect.”

Her first surgery is scheduled for January 14 and in total could cost between $150,000 and $200,000.

Katrina’s good friend from University, who helped the young woman with her daily life there, has organized a fundraiser. Information can be found at http://www.youcaring.com/theverticaldream.

Donations can also be made through CIBC account 7513135, Transit number 00070.