Our doctor asked if we wanted kids. What he said left us speechless

My husband Johnny and I anxiously sat across from his cardiologist awaiting the annual update about his overall heart health.
We were especially curious about the echocardiogram results which would reveal how well Johnny’s then-19-year-old prosthetic heart valve was functioning.
Thankfully, his valve was in good working order. We sighed with relief to receive the reassuring report. But an elephant remained in the room.
Dr. McMullan, who is always kindly inquisitive about our life and family, confronted the elephant. He gently inquired: “Do you two plan to have children?”
“Yes,” we both hesitantly, yet heartily replied. We all exchanged smiles.
Then he responded: “Okay, the gene is autosomal dominant, which means each time you conceive, there will be a 50 percent chance your child could have Marfan syndrome.”
Candice Harris Photography
We were speechless. Marfan syndrome is a rare genetic condition.
During a routine test, Johnny’s middle school nurse discovered his severe scoliosis, a prevalent symptom of Marfan. This unexpectedly set his family on a path to uncover his underlying diagnosis at age 13.
Marfan syndrome is a genetic aortic and vascular condition that also affects the body’s connective tissue.
People living with Marfan and related conditions have a roughly 250 times greater chance of experiencing a life-threatening tear in the aorta, called an aortic dissection, vs. the general population.
Connective tissue holds all the body’s cells, organs and muscles together and is also crucial for supporting proper growth and physiological development in the body.
Marfan syndrome impacts the blood vessels, bones, eyes, lungs, and heart, and if left unmanaged, can lead to life-threatening cardiovascular complications.
Some people with Marfan syndrome have distinctive physical characteristics such as long arms, legs, and fingers; a tall, thin body frame; a curved spine; a protruding or sunken chest; and flexible joints.
Approximately one in 5,000 people are affected by Marfan syndrome, regardless of gender, race, or ethnic background.
Johnny’s Marfan is nearly a textbook case. Exceptionally though, while three in four people inherit the gene from a parent, he is among the one in four whose case resulted from a spontaneous mutation of the gene: He is the first person in his family known to have Marfan syndrome.
Uneasily considering all these factors, we were deeply concerned about our odds of conceiving a healthy child. Yet we took a leap of faith.
Fast forward nearly six years, and we have two beautiful, thriving children—five-year-old Sky and two-year-old Auggie—who, in a genetic plot twist, both inherited and courageously live with Marfan syndrome.
Johnny and I, along with our family pediatrician, noticed early on that Sky and Auggie displayed physical attributes that signaled Marfan.

KeNosha Whitehead
By 18 months, Sky was so tall that her height measured above the 95th percentile on the standardized growth chart. Today, as a kindergartener, she stands head and shoulders above her classmates at four feet, six inches.
Sky also has unusually long fingers and toes. Her toe joints were contracted from birth, an orthopedic challenge that necessitated back-to-back flexor tenotomy surgeries when she was four.
Auggie is tall with long extremities, too. He similarly has joint contractures in his feet and one in his right hand, the latter of which rendered him unable to correctly hold his bottle or crawl on both hands. As a pre-surgery intervention, he wears a splint and participates in weekly occupational therapy.
Most critically, both of our children present with aortic root dilation, and they daily take an adult blood pressure medication that is compounded for children and not covered by insurance.
Sky additionally takes a beta blocker to account for the more rapidly progressing dilation of her aortic root. These medications help reduce stress on their little hearts, delaying the prognosis of eventual open-heart surgery.
As a wife and mother, I admittedly have encountered moments of sadness and helplessness and, sometimes, immobilizing fear. But educating myself has empowered me to knowledgeably and rigorously advocate for my husband and children.
At first, understanding Marfan syndrome felt like learning a new language. I dove into research and connected with specialists to ensure my family had the best care possible. Organizations, online forums, and support groups have provided invaluable resources and community.
Living with Marfan syndrome is no ordinary life. There are some days filled with doctor’s appointments, therapies, chronic pain, hard conversations, surgeries, and moments of uncertainty about the future.
But there are more days filled with laughter, normal routines of work and school, milestones, amusement, and optimistic expectation. I have learned to focus on what my family can do rather than what any genetic condition might limit in our lives.
We have rare genes, but a strong foundation built on real love and resilient hope.
February is Marfan Awareness Month, and we are honored to share our story to help raise awareness of this serious and complex syndrome.
We wholeheartedly trust that our early awareness and interventions have made and will continue to make a favorable difference in our family’s health outcomes. But many people remain undiagnosed or unaware of the condition.
By speaking up and out, I hope we can make a difference in others’ lives.
If you believe that you or someone you love may have Marfan syndrome, I urge you to talk to your provider and consult the resources available from organizations such as The Marfan Foundation.
A diagnosis may require both an expert’s evaluation and a genetic test. The Foundation can help you find experienced providers by contacting www.marfan.org/ask.
Providers can also learn more about diagnosis and treatment of Marfan syndrome through organizations such as The GenTAC Alliance.
When it comes to living with Marfan, knowledge is power, and it’s my sincere desire to inspire others to seek diagnosis, treatment, support, and hope for their own families.
KeNosha Whitehead, Esq., M.Div., is a Black woman living with albinism in Mississippi, where she works as an attorney, writer, and editor. Nosha’s husband, son, and daughter all live with Marfan syndrome. She passionately advocates for her genetically unique family, actively volunteering for the Marfan Foundation, and inspires others to hold on to resilient hope in life’s toughest seasons.
All views expressed are the author’s own.