First things first, here’s your Marfact for the day (provided by the Marfan Foundation)!
Marfact #2: Marfan syndrome is a disorder of the connective tissue, which holds all parts of the body together and helps control how it grows.
Today I want to talk a bit about how and why the words Marfan Syndrome first came into my life.
I was 4 years old the first time a doctor ever suspected that I had Marfan Syndrome. To be more specific, it was my optometrist the moment he found out that I had ectopia lentis, or in other words: dislocated lenses. This is a fairly rare ocular finding overall but is commonly found in cases of Marfan Syndrome and a few other connective tissue disorders. My mom had taken me to the eye doctor thinking that I may have had lazy eye. Little did she know the foundations of her world were about to be shaken.
Not long after that initial finding we were being sent 8 hours away for surgeries and I was undergoing evaluations at BC Children’s Hospital for a rare genetic disorder no one in my family had ever even heard of before.
Looking back now, the part that seems the most frightening to me is the outcome. Even at that young age I did have a few alarming characteristics of Marfan Syndrome, most notably the dislocated lenses. As always, a cardiologist did an echo-cardiogram to see if my aorta was enlarged (another common finding in MFS). Thankfully, at the time my aorta was perfectly normal, which at such a young age isn’t all that uncommon in MFS.
The scary part was that based on this finding we were told by the geneticists evaluating me with 100% certainty that I did not have Marfan Syndrome and that I wouldn’t need any future follow up care or screening. And, that was that. We were never told that I should get echo-cardiograms as I aged to make sure things continued to look normal, or that sometimes a negative diagnosis at a young age can change into a positive one as you grow and more symptoms appear. We were simply told that I did not have Marfan Syndrome, end of story.
At the time this was obviously fantastic news. But it could have ended tragically had my aorta not been so stable during my childhood and early teens. I was always on our school’s sports teams and participating in anything gym class threw my way, never having any followup screening done on my heart. And, it wasn’t until almost 11 years after we initially heard the words Marfan Syndrome that I was properly diagnosed with a connective tissue disorder.
It’s frustrating looking back on it. I spent so many years scared and in pain with increasing amounts of unexplained medical problems. I saw countless doctors and out-of-town specialists, went through endless tests and sleepless nights. All for the sake of so desperately trying to figure out what was wrong with me and why my body seemed to be falling apart, when the answer had been there all along.
And, my hope is that with increased education and awareness that instances like this will become less and less. Doctors, specialists and even patients will see the signs and symptoms of a connective tissue disorder and recognize it for what it is and get the proper help. I’ve heard so many stories of people who’ve spent years – decades even – in unexplained pain with countless medical issues, before they were properly diagnosed. Hopefully those stories will become fewer and fewer.
To learn more visit the Marfan Foundation at www.marfan.org