Diagnosis

I thought it was only fitting to start at the beginning of my story. I was diagnosed with Marfan syndrome at age 3, around the time this photo was taken. My parents took me to the eye doctor when they noticed me standing super close to the TV. During the examination, my doctor quickly noticed that my interocular lenses were dislocated. This explained my severe vision impairment, but it wasn’t common for children’s lenses to become displaced without an underlying condition present. Lens dislocation (ectopia lentis) is especially common in children with Marfan syndrome which my doctor told my parents. I was soon seen by a cardiologist. They did an echocardiogram to look at the size of my aorta and found that it was enlarged. This along with dislocated interocular lenses and the presence of a protruding chest bone (pectus carinatum) was enough to confirm a very probably diagnosis of Marfan syndrome. Within months, I had three different surgeries to remove my displaced lenses and replace them with artificial ones.

I did undergo genetic testing within the next couple years to both fully confirm diagnosis and possibly trace my genetic mutation in my family. It was found that I had a mutation in the fibrillin-1 gene. The specific change and location of the mutation was a previously reported pathogenic variant associated with Marfan syndrome. This essentially meant that my mutation they found had also been found in other people with Marfan syndrome. At this point, it was also confirmed that my condition was due to a spontaneous genetic change, which is the true in 25% of cases. In other words, 1 in 4 people are the first person in their family to be affected by the condition just like I am.

I was very lucky to have an ophthalmologist that recognized an important warning sign of Marfan syndrome. While I know it was terrifying for my parents to be told I might have Marfan syndrome, I wouldn’t be where I am today if they hadn’t taken it seriously and consulted with the necessary doctors to educate themselves, and later me, on the possibilities.