Raising the profile of a rare disorder

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

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.

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.’’

Organizations: Canadian Marfan Association

Geographic location: Charlottetown

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Recent comments

  • mary beggs
    February 07, 2014 - 12:46

    My sister has full blown marfans. She is 57 and almost bed ridden. Wish she had others with marfans to talk to. I hope there is more research on this. Most doctors know very little about this

  • Connie Clark
    February 01, 2014 - 22:11

    My brother and I were diagnosed when we were fairly young. He died of complications after heart surgery to replace his aorta when he was 21, in 1986. He was "full blown" Marfans with pretty much all the symptoms. I am a little luckier although I have had both hips replaced and open heart surgery to mend my faulty mitral valve. However, I am 55 and still going strong and have a pretty good life as long as I get lots of rest, minimize stressors and avoid anything physical that would put undue pressure on my heart. I take nothing for granted and plan to live the rest of my life as fully as possible! My Dad tried to raise awareness here on PEI but sadly, it's such a silent killer that it is a battle to have it taken seriously. Anytime I hear about someone that has Marfan type attributes I suggest they go to the doctor and ask for an assessment. All the best and I hope that you are able to raise awareness and also find some relief from your symptoms so that you can function as well as possible.

  • Maya
    February 01, 2014 - 21:50

    Life expectancy is actually in the 70s, for those who are diagnosed and being monitored! http://www.marfan.org/blog/2013/09/16/aging-marfan-syndrome-5-common-questions#.Uu2xkGSwIjY

  • Annie Anderson
    February 01, 2014 - 15:44

    Hi jacket, I live in England. I have Marfans My brother died at 41 also leaving two young children. Life expectancy is much better today. My niece went to a marfan meeting and people there in their seventies. Good luck with the nursing course.