Chronic Joint Pain and Muscle Pain are the Main Issue
It was a relief when Jess Covey finally got a diagnosis of Ehlers Danlos Syndrome.
KINGSTON – By Michael Lea, Kingston Whig-Standard
The 26-year-old woman, originally from Athens, had moved to Kingston to attend the early childhood education program at St. Lawrence College.
“It wasn’t anything severe,” she remembered. “It was just a little bit of joint and muscle pain, fatigue.”
That little bit of discomfort was the start of a long, painful journey that would leave her angry and frustrated with her country’s health-care system and force her south of the border to find help.
Covey didn’t really think much about her symptoms at the time. After all, her mother, Christine, had suffered from joint pain since she was in her 20s.
“She went through the same thing. Doctors said: ‘There’s nothing wrong with you,’ so she just let it go and accepted it.”
Her brother, Charlie, had a lot of the same problems, so Covey figured it was just some kind of weird family thing.
But when she started going to Queen’s University the following year to start a degree in psychology, things got worse.”
“Things were a little more difficult for me.”
She started having trouble walking.
“My joints would give out.”
They also started hurting even more.
She started seeing doctors to figure out what was going on, but her symptoms were too general for them to make a definitive diagnosis.
At one point, she was told she had fibromyalgia, a chronic condition that can cause widespread pain. Another doctor said it was depression.
“I went to doctors for three years saying ‘I’m sick.’ I’m not depressed. I don’t have fibromyalgia. I knew that whatever it was going to be was probably something that my brother and my mom had as well.”
While on a trip with her husband, Luke, she was out walking when she suddenly felt pain in her ankles.
“Just from walking, my ankles just sprained.”
Her doctor suggested the problem might be with the ligaments in her feet, so she went to specialists across the province.
One doctor in Toronto “was very adamant that I was just depressed.”
But when he did a physical examination, he found her joints were hyper-mobile, much looser than they should be.
She asked him if that could be what was causing the joint pain.
“No, absolutely not,” he replied.
“But I didn’t believe him,” she said. “I was trying to figure it out by myself. So when I came home I did more research.”
As she scoured the Internet for any disease associated with hyper-mobility and joint pain, a particular name kept coming up — Ehlers-Danlos Syndrome (EDS).
It is a group of inherited diseases that cause extremely loose joints, hyper-elastic skin and blood vessels that can be easily damaged.
Gene mutations can affect the body’s collagen, which gives strength and structure to bone, blood vessels, skin and the internal organs.
A more serious version of EDS can cause internal organs to rupture, but for most people, it presents with joint pain and easy dislocation. The ligaments that are supposed to support the joints aren’t doing their job.
“In us, once they stretch even a little, they don’t ever go back to the way there were. So you dislocate joints really easily.”
The skin can be very fragile, causing problems with surgical scars healing.
“Chronic pain is one of the main issues, chronic joint pain and muscle pain.”
It seemed like her search was over.
“It just fit everything I was going through perfectly as well as my brother Charlie. He had been dislocating things for years and nobody knew why.”
Covey took her discovery to her rheumatologist.
“My rheumatologist said: ‘Oh, my God, I can’t believe I missed that. That’s so obvious.’ ”
The admission didn’t help much.
“I had been seeing him for three years, so I was a little frustrated.”
What came next was even worse.
“On the one hand, I was happy to hear somebody say: ‘Yes, that’s what you have,’ but in the same breath, within 30 seconds, he was out of the room saying: ‘I don’t need to see you again, there’s nothing I can do for you. Good luck.’ ”
Covey was shocked.
“He offered nothing.”
Everything she had read about EDS said there may not be a cure but there is treatment.
“So I was left to figure out what am I supposed to do on my own.”
At that point, she only knew it was affecting her joints and muscles, as well as causing fatigue.
“I didn’t know it was also affecting my blood vessels, my heart, my stomach, my GI system and my spine.”
She started going to physiotherapists and other specialists, telling them she had EDS.
Often, doctors would roll their eyes and say nothing could be done “and just kind of brush you off.”
“That was really frustrating.”
For a year and a half, the three of them “just dealt with it.”
“This is going to be our life. We are just going to have to figure out how to live with this.”
She was taking Tylenol, Advil and Aleve to keep the pain under control.
“Basically, every move we make we are injuring ourselves because our joints are never in the right place.”
She had to take off pretty well all of 2009 because of her symptoms.
She was finally able to return to her studies at Queen’s and was doing quite well until things took a turn for the worse again last summer.
She tried to go back to Queen’s in the fall but couldn’t manage it. She wasn’t able to drive or even type. So another year was lost.
Then Charlie started having episodes of fainting.
When a healthy person stands up, the blood vessels will normally contract and keep the blood in the heart and head. But because EDS causes the blood vessels to become hyper-elastic, they will dilate and let the blood pool in the lower extremities.
“So he ended up passing out. That was something new.”
It started happening so often he couldn’t even sit up without passing out.
The fainting was accompanied by convulsions and terrible headaches.
“The doctors didn’t believe it had anything to do with EDS,” said Covey.
So the family took him to a clinic in Maryland that specializes in the diseases.
The clinic has an upright MRI that could better reveal what was happening when Charlie fainted.
“There are no upright MRIs in Canada.”
The problem with a regular MRI is you have to lay down to go in it, said Covey. That meant Charlie’s body would show up as normal.
The instability in the connective tissue only showed when he was sitting up.
At the same time as her brother was having his problems, Jess Covey was also getting sicker.
She had been having headaches and problems with her hands but postponed doing anything about it to devote her attention to Charlie.
But one day last August, as she was backing her car out of the driveway and looking back over her shoulder, she started to black out.
She returned to Maryland and got an upright MRI and rotational CT scan to look at the vertebrae in her spine.
She was diagnosed with rotational instability in the C1 and C2 vertebrae.
“My ligaments in my spine had become so lax that my top vertebrae was essentially dislocating off my second vertebrae whenever I moved my head and was compressing my vertebral artery so when I turned my head I could have a stroke.”
“It was essentially as if I had gotten severe whiplash, because the ligaments there weren’t doing their job anymore. The vertebrae would just slide forward and compress the nerves.”
Back in Canada she looked for help from neurosurgeons.
“They didn’t believe EDS was the cause of it or they didn’t believe I had EDS or they didn’t believe I was sick at all,” she said.
“It is really a systemic lack of awareness of the disorder. What is taught in medical school about EDS now is outdated information. They are taught it is really rare. Or that it is just our joints that are hyper-mobile, that it’s not a big deal.”
She had even been told EDS doesn’t cause pain.
“I have EDS and I am in chronic pain, so I know. It causes pain. They just don’t know anything about it.”
Even doctors who acknowledge the effects on joints say instability in the spine and neck is not possible, she said.
“But it is completely possible. There are hundreds of people that have to go to Maryland from across North America every year specifically for this issue because it is not recognized.”
She said it is not as rare as it was once deemed to be. Now perhaps as many as one person in 2,500 suffers from it.
“It is so frequently misdiagnosed, so there could be more.”
So she decided to have surgery done in the Maryland clinic to fuse the affected vertebrae. One surgery was done in February, the other just last week.
They knew it would be an expensive choice.
“We have looked all across the province. There isn’t help here,” said Covey.
“We didn’t have any other option. It was either go to the U.S. and get the treatment or suffer a very low quality of life here and not get any help or support from doctors.”
The family has had to do some fundraising to cover the costs.
“Nothing was covered by OHIP. It will probably be another month before we get the bill from the hospital. So we’re not sure how much we still owe yet.”
An earlier bill from the clinic was $120,000, and the latest surgery will likely run at least $40,000.
The doctor even gave them a discount on the surgeries since he knew they weren’t getting help from OHIP.
Anyone interested in helping with the costs can go to Covey’s website: www.indiegogo.com/
Covey is hoping she can stay out of doctors’ offices for a while.
“Hopefully, this will be it. There is always the possibility I will have other vertebrae that will be unstable and I may have to get that fixed.”
Right now, however, she is hoping to continue with her physiotherapy and strengthen her muscles so they can do the work of the weakened ligaments and tendons.
She also has to ensure she avoids any high-impact activities that could damage her joints.
It would help if doctors were more aware of EDS so they could catch it earlier in a person’s life, she said.
In her own youth, she was a baseball pitcher and played soccer and is now paying for the damage she unwittingly did to her shoulders and legs.
The diagnosis of EDS is relatively quick and simple, she said, and can be confirmed by a geneticist.
Covey is hoping to do a summer course to try to catch up on her studies. By taking more courses in the fall, she is still hoping to graduate.
The family is also planning to set up a local EDS support group, with the first meeting to be held in July.
Her struggle to get a proper diagnosis and treatment has shaken her confidence in the health system.
“It’s sad because you shouldn’t have to fight this hard just to be healthy,” she said.
“We are just trying to live our lives the best that we can. Rather than getting support from our government saying we want you to be healthy, they are at every turn trying to make it difficult for us to get any help whatsoever. It is a failure on the part of the doctors, first and foremost, because they don’t believe us and they don’t know about the disorder, but then it is also a failure on the part of the government for not supporting us in our quest for a better life.”
Jess is going to organize an EDS Support Group to promote EDS Awareness.
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