Raising the profile of a rare disorder

Charlottetown woman goes public with her story of living with Marfan syndrome

Jim Day jday@theguardian.pe.ca
Published on February 1, 2014
Kacey Lamphier, 25, of Charlottetown was eight years old when diagnosed with Marfan syndrome. People with this genetic disorder of the connective tissue typically have disproportionately long arms, legs, fingers and toes.
Guardian photo by Jim Day

It took the death of her father for Kacey Lamphier to learn she was ill.

Her dad Eddie was seemingly a healthy man when he died suddenly at age 41. Tests determined he  had Marfan syndrome.

CLICK HERE FOR BACKGROUND ON MARFAN SYNDROME

With the disease being a genetic disorder of the connective tissue, his family members were all tested to see if any of them had the disorder.

Kacey, at age eight, was diagnosed with the condition that can see connective tissue in the heart, lungs, eyes and skeletal and nervous systems and other tissues stretch and weaken. So too did her uncle and her cousin receive the diagnosis of Marfan syndrome following the death of Kacey’s father.

“I was like a tall, lanky kid whose heart was growing too fast,’’ recalls Kacey, who is now 26.

Today, due to Marfan syndrome, Kacey has poor joints.

Her knees are weak. Her ankles, which are even weaker, are prone to giving out resulting in Kacey tripping easily.

Her jaw does not line up properly. It cracks and clicks and locks. She wears a plate in her mouth while sleeping to prevent grinding of her teeth and locking of her jaw. During the day, her jaw can become quite sore.

Kacey takes anti-inflammatory medication for her jaw each day. She also takes heart medication every morning.

Her joints, though, are her biggest concern. She does what she can for pain management. Yoga proves helpful to make her more limber.

Still, Marfan syndrome will gradually diminish the strength of her joints.

“There is no way they are going to get better,’’ she says.

Kacey, a Charlottetown resident who is studying to become a nurse, modifies her activity to reduce undue strain on her fragile body. At the same time, though, she does not like to hold back from living her life to the fullest.

For one, she played volleyball for six years — a sport that can give the healthiest of frames a decent pounding.

Most disconcerting about the disease perhaps is the average life expectancy of 55 to 60 years for those with Marfan syndrome.

Kacey says she does her best to think about what she can do with her life as opposed to how much time she may have in her life.

“It’s not something I think about all the time. I can’t let it run my life.’’

Kacey has long been involved with the Canadian Marfan Association, but a rather quiet involvement at that. She donates money each year to help the cause. She hasn’t, however, stepped up to help raise the profile of Marfan syndrome.

Until now.

Kacey notes the association recommends members spread some awareness of the syndrome in their hometowns. So with February marking Marfan Syndrome Awareness Month, Kacey decided to tell her story to public through The Guardian. She also hopes to make a presentation to her nursing class.

“I just want to raise awareness about it,’’ she says. “I just want people to know more about it.’’

February marks Marfan Syndrome Awareness Month. Here are some facts about the disease:

— A genetic disorder that causes connective tissue in the heart, lungs, eyes, skeletal and nervous systems to stretch and weaken.

— An estimated one in 5,000 Canadians has the Marfan syndrome or a related connective disorder.

— People with the disorder are usually, but not always, tall, slender and loose jointed. They may have disproportionately long arms, legs, fingers and toes.

— To learn more, visit the Canadian Marfan Association at www.marfan.ca.