Friday, 31 May 2013 12:32

Neidpath resident wants to increase awareness about genetic disorder

Written by 
Rate this item
(1 Vote)
Neidpath resident Angela Bulbeck holds her monthly supply of medicine that helps her to cope with Ehlers-Danlos syndrome, a group of rare connective tissue disorders that affects less than one in 10,000 people. Neidpath resident Angela Bulbeck holds her monthly supply of medicine that helps her to cope with Ehlers-Danlos syndrome, a group of rare connective tissue disorders that affects less than one in 10,000 people. Matthew Liebenberg/Prairie Post

Neidpath resident Angela Bulbeck is hoping to make more people aware of a hereditary connective tissue disorder by talking about her experiences with Ehlers-Danlos syndrome (EDS).

 

The 31-year-old single mother has been diagnosed with EDS three years ago after suffering from various health problems that became worse about five years ago.

“It ended up taking about three years to actually get my diagnosis because it's really difficult to diagnose,” she said. “Everybody presents differently with it.”

It is a rare disorder that affects less than one in 10,000 people. The month of May is national Ehlers-Danlos Awareness Month, when people are wearing zebra striped ribbons to raise awareness as an important first step towards research for a cure.

“That’s why it’s so under diagnosed because people have these problems and they can’t put it together in a picture because nobody has heard of it,” Bulbeck said. “Even a lot of doctors have never heard of it. So to just get that name out there is a positive thing.”

EDS is a genetic disease that affects the production of collagen, which is an important structural protein that provides strength and flexibility to cells and tissue in the body.

“Connective tissue is found throughout the body and it's basically what's holding you together,” she explained. “With Ehlers-Danlos your joints don't have that support. It's like old elastic that's lost that stretchiness and instead of everything snapping back it's just loose. So you're just able to do these things that your body shouldn't do and you dislocate really easily.”

As a child she had many joint dislocations and she had to learn to move with more care until it became a normal part of her life.

“When I pick something up I have to make sure that my shoulders are ready and the muscles are tense because if I just let it droop my shoulder will actually sag right out of the socket,” she said. “My knees go back further than straight and while I'm walking I have to make sure that I don't let it go too far because my knee would actually bend backwards and snap out of place.”

The symptoms of EDS will be different for each person and it must be treated on an individual basis. She has some lung and heart problems and she also has very low immunity, but her major issue is a troublesome digestive system.

“I have gastroparesis, which is another thing that can happen with Ehlers-Danlos,” she said. “It basically means paralysed stomach where instead of digesting the food from your stomach mine doesn't do that.”

She has two feeding tubes to bypass the part of her digestive system that does not work properly. She uses a feeding pump to ingest high protein liquidized food.

“It’s really been a life changing thing for me to be able to get the tube feeds and just having proper nutrition makes a world of a difference,” she said. “Before I got diagnosed with all of my gastro-intestinal problems I had lost a significant amount of weight and I was very unhealthy.”

She is five feet 10 inches tall and after a low of 87 pounds her current weight is 120 pounds, but her doctor wants to see a further increase to around 140 pounds. In addition to her family doctor in Herbert she receives medical care from a number of specialists.

“It's taken a really long time to find medical people that know about this and are willing to help and treat and work with me,” she said. “This is a lifetime problem that I'm going to have and to have doctors and specialists that can help me get through that is wonderful. Every one of my doctors and specialists are vital to keeping me going.”

She receives disability benefits but her medical expenses and frequent travelling to Regina and Saskatoon for medical appointments is a significant financial burden. For the past five years she has spent an average of $16,000 and travelled over 20,000 kilometres each year for medical treatment.

Some of her medications are not covered under the Saskatchewan drug plan because it is still a new drug or it is not on the plan’s formulary list.

“It’s hard to create government programs for something that’s just so uncommon because there is no advocacy and there’s very few that have it,” she said.

Taking care of her six-year-old daughter is an important motivating factor and ongoing improvements to her health is another reason to have hope for the future.

“I’m so used to living like this now that you kind of roll with the punches and you learn as you go, about not thinking way into the future,” she said. “Maybe today is not a great day but maybe tomorrow would be better or maybe next week would be better.”

Read 18956 times
Matthew Liebenberg

Reporter/Photographer

More SW Sask News...