Stronger together

P.E.I. mother, daughter raising awareness about rare connective tissue disorder

MISCOUCHE – When Kacey Lamphier’s daughter, Adelaide Lamers, was diagnosed with Marfan syndrome three years ago it was not the news the young mother had hoped for.

“I cried,” said Lamphier.

The Miscouche woman also has Marfan syndrome and had a 50 per cent chance of passing it on to Adelaide, now three.

After Adelaide’s birth her family started to suspect she’d inherited the genes that cause the disease, but getting the official diagnosis was still difficult to absorb.

“It’s a very characteristic condition. Long fingers, long toes, tall, slim,” said Lamphier. “We all kind of have the same look. As soon as I saw her long little fingers, long toes, long limbs … I knew already that she had it.”

According to the Centers for Disease Control and Prevention, around 1 in every 5,000 people have Marfan syndrome. It affects the connective tissues in the body. When those tissues weaken it can cause a number of health problems ranging from mild to life-threatening.

For Adelaide and Lamphier the condition affects their hearts; their aortas, specifically, which are at risk of growing faster than they should. Lamphier’s joints are also impacted.

Adelaide sees a cardiologist every year, her pediatrician every six months and an ophthalmologist annually; it’s common for people with Marfan syndrome to have their retinas detach, said Lamphier.

Adelaide’s cardiologist also recently put her on beta blockers to help lower her blood pressure and heart rate. Currently, she is not affected much by her condition. But symptoms tend to become more pronounced as the body ages.

“Right now, there’s nothing, really, that’s slowing her down. She’s a typical toddler,” said Lamphier.

But when Adelaide gets older, she will not be able to play contact sports or any activities that raise her heart rate. “If she wanted to get into sports, she’d just have to be a little bit more cautious about what she chooses, and be able to listen to her body,” said Lamphier.

“As she gets older, she’ll be learning to live with the condition and learning to adapt where she has to.”

A GENETIC CONDITION

Adelaide was fortunate to be diagnosed in infancy. Lamphier and her family had not even heard of Marfan syndrome until 1995, when she was seven years old.

After her father, Eddie Lamphier, died, an autopsy determined it was caused by a ruptured aorta, characteristic of the condition.

Once Eddie’s relatives were tested, it was also discovered in Lamphier, her uncle, cousin and grandmother.

“It was a shock, for sure,” said Lamphier’s mother, Margot Lamphier McGuire. “I really never had heard about Marfan syndrome at all, so I had to do a lot of reading about it.”

Although the condition was previously unfamiliar to Lamphier McGuire, researching, speaking with doctors and joining the Marfan Association of Canada helped her raise her daughter the best she could.

Lamphier, meanwhile, said that the shared experience has made her feel prepared to raise a daughter with Marfan syndrome.

“I feel like I know as much as I can about this, and I’ll be able to give her the best possible life.”

SPREADING AWARENESS

Since learning about the condition in herself, the issue of awareness has been an important one for Lamphier.

She has raised money for research and shares her story with anyone who will listen. “As I got older, I dealt with it more and more,” said Lamphier.

“I realized that I can still do a lot, and I felt like it gave me more of a reason to advocate for it and spread awareness and learn to live with it in a positive light.”

Being an advocate and helping educate, said Lamphier, has helped her to look on the bright side, rather than focus on the negatives.

“If not, I feel like it could really bring you down, between the pain, the fatigue and different limitations that you have,” she said.

“But if you learn to live with it, and learn to figure out what you can and cannot do, and what makes you feel the best, then you can live a completely regular life.”

In February 2022, Adelaide was named the ambassador of the IWK Founders Club – anyone who donates more than $500 in a year to the IWK becomes a founder.

For Adelaide, that means she’s the face of the Founders Club for the next year. She’s filmed videos for the IWK thanking people for their donations and has shared her story through the hospital’s social media pages.

With her being the face of the IWK for the next year, Adelaide is excited to follow in her mom’s footsteps.

“I thought this would just be a perfect opportunity for her, to help her start young in spreading awareness, as well,” said Lamphier.

CONTRIBUTED Because of her Marfan syndrome, Adelaide has regular visits with her pediatrician, cardiologist and ophthalmologist. It does not affect her day-to-day life much, yet, but Lamphier said it will impact her more as she gets older, and will prevent her from playing contact sports and participating in heart-raising activities.

CONTRIBUTED Kacey Lamphier, left, and her daughter Adelaide Lamers, both have Marfan syndrome, a connective tissue disorder. Lamphier has always done what she could to spread awareness for the condition. Adelaide, who was recently named IWK's Founders Club ambassador for 2022, is now excited to follow in her mother's footsteps.

CONTRIBUTED As Marfan syndrome is genetic, Adelaide was tested shortly after being born, and was officially diagnosed when she was three weeks old.

CONTRIBUTED Kacey Lamphier, left, was diagnosed with Marfan syndrome when she was seven years old, after it was posthumously discovered in her father. Before then, neither Lamphier nor her mother, Margot Lamphier McGuire, had heard of the condition. Lamphier McGuire said, though, that research and joining the Marfan Association of Canada helped her to feel prepared.