When Kacey Lamphier was just a child, her father Edward passed away from a ruptured aorta. Following his death, Kacey and her family were also tested. It was during this time that she and her family first learned about Marfan syndrome, a rare genetic disorder that affects connective tissue. In fact, Kacey, along with her uncle, grandfather, and cousin, all had Marfan syndrome. At first, shares SaltWire.com, Kacey was shocked. But as she grew older, she became more confident as an activist and advocate, working to help raise awareness. Now, Kacey’s daughter Adelaide, who was diagnosed with Marfan syndrome at just three months old, has been named an ambassador for the IWK Founders Club.
Kacey and Adelaide’s Story
Initially, Kacey was diagnosed with Marfan syndrome in 1995. Her mother, who had never heard of the condition before, dove into research. Kacey’s mother also joined the Marfan Association of Canada, which helped provide support and additional resources. This focus on research and awareness motivated Kacey, as she grew up, to share her experience and advocate for others. She feels that her own diagnosis helps her provide the best avenue for Adelaide to grow, and focuses on sharing positivity with those around her. For example, Kacey teaches others to learn how to live with their limitations.
However, Kacey was still initially shocked when she discovered that Adelaide had been born with Marfan syndrome. She knew that this was a possibility; indeed, Adelaide had a 50% chance of inheriting the condition. As soon as Adelaide was born, Kacey shares, she presented with Marfan characteristics: long fingers, toes, and limbs.
But Kacey says that Adelaide is a pretty normal toddler, although she requires semi-frequent cardiologist and ophthalmologist appointments. In the future, Kacey will have to help Adelaide navigate areas like wanting to play sports or engaging in physical activities, but she is confident that her daughter will be able to learn to live happily with Marfan syndrome.
Becoming an IWK Founders Club Ambassador
According to the organization’s website, the IWK Foundation is:
a public, not-for-profit organization that raises funds to support the urgent priority needs of the IWK Health Centre in Halifax, Nova Scotia.
The IWK Health Centre provides specialized care to women, children and youth from across the Maritime provinces.
The IWK Foundation also has the IWK Founders Club, or a group of donors who contribute over $500 during the calendar year. For 2022, Adelaide became the IWK Founders Club Ambassador – the face that donors see when they look at the website. In addition to having her story shared on social media, Adelaide will also send videos to donors. Kacey believes this is a great way for Adelaide to start learning about her condition and raising awareness. To learn more about Adelaide’s ambassadorship, take a look at the above link!
About Marfan Syndrome
Marfan syndrome is a rare inherited disorder which affects connective tissues, or fibers which support organs and structures like the eyes, blood vessels, heart, and skeleton. Altogether, the condition is caused by gene defects which prevent the body from producing enough of a certain protein. Normally, this protein plays a role in connective tissue strength and elasticity. Symptoms and characteristics associated with Marfan syndrome include:
- A tall and slender build with disproportionately long arms, legs, and fingers
- High, arched palate and crowded teeth
- Protruding or dipping breastbone
- Stretch marks not associated with weight gain or weight loss
- Flat feet
- Mitral valve prolapse
- Abnormal spinal curvature
- Loose joints
- Heart palpitations
- Extreme nearsightedness, cataracts, or glaucoma
- Dislocated lens in one or both eyes
- Aortic aneurysm or dissection (life-threatening complication)
Learn more about Marfan syndrome.
