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Marfan syndrome: Boy's rare condition and his mother's mission to raise awareness

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Screen Shot 2014-01-27 at 3.39.53 PMI remember the moment so vividly, when I held my sweet baby boy for the first time. How amazing to look upon the little life you’ve created. Cohen is my third boy, and I remember feeling guilty with a sense that something wasn’t quite right. My intuition was confirmed when I saw the look on the nurse’s face as she listened to my little boy’s heartbeat.

In that moment, my life changed forever. Cohen was whisked away to the NICU and diagnosed with pulmonary valve stenosis. PVS is a heart valve disorder that involves the pulmonary valve, which acts as a doorway that lets blood into and out of your heart. Stenosis, or narrowing, occurs when the valve cannot open wide enough, causing less blood flow to the lungs.

We took many trips to Doernbecher Children's Hospital for routine screenings. One particular trip shook our world. His cardiologist told us that Cohen’s aorta was abnormally dilated, then pointed out some peculiar characteristics that I simply considered unique. Cohen appeared beyond his years, towering over toddlers his age. He also had a mysterious, bowl-shaped dent in his chest and unusually long limbs, fingers and toes. We were referred to see a geneticist, and a couple of months later Cohen was diagnosed with Marfan syndrome, two weeks before his second birthday.

In the two years leading up to his diagnosis, Cohen’s extraordinary features never sent up red flags, and his pediatrician was not overly concerned about his concave chest. Though after he was diagnosed, his pediatrician learned more about the syndrome and began testing other patients with similar characteristics. It was the first time she’d treated a patient diagnosed with Marfan, and she had been practicing for many years.

Marfan syndrome is a rare and serious condition that affects the body’s connective tissue. Connective tissue holds the body’s cells, organs and tissues together. It also helps regulate how the body grows and develops. If not accurately diagnosed, people’s lives are often cut short.

Screen Shot 2014-01-27 at 3.40.21 PMMarfan syndrome is classified as variable expression, which means that Marfan is unique to each person. It affects one person differently than another. The unique features Cohen possesses are a result of the effects of Marfan on his skeletal system. Other body systems that can be affected include: eyes, lungs, skin, teeth, spinal column and nervous system. Signs of Marfan syndrome include:

• Tall and thin body type
• Long arms, legs and fingers
• Spinal curvature
• Flexibility of joints
• Flat feet
• Sunken chest, or chest that sticks out.
• Crowded teeth
• Stretch marks
• Lung collapse
• Nearsightedness
• Dislocated lenses
• Detached retina
• Early glaucoma and cataract

In addition, Marfan causes heart valves to become “floppy.” The most serious complication is aortic dissection, a medical emergency that can quickly lead to death due to a decreased supply of blood to vital organs. Visual features are not an indication as to whether someone will experience aortic dissection. It’s important to note that there are other conditions that are related to Marfan syndrome that share many physical similarities and are equally as dangerous.

You can imagine what a devastating diagnosis this can be for any parent or child to receive. At first, my husband and I were crushed, terrified and somewhat hopeless. But I realized, knowledge is power.

Screen Shot 2014-01-27 at 3.41.08 PMI researched my son’s diagnosis. In the process, I learned how incredibly lucky we were to have caught this so early. Given his tall stature we would have naturally encouraged him to compete in sports, which is not recommended for someone with Marfan. In reality, early diagnosis saved his life, or at least extended it by many years. With continual monitoring, physical activity restrictions, and treatment with blood pressure medications, Cohen will likely live a long happy life.

Silly, outgoing and charismatic, Cohen is now 4 years old and attends preschool. He loves to read, paint and sing. Whether he’s playing Ninja, Army guy or showing off his dance moves, he’s always having fun.

Instead of being a terrified and hopeless mom, I am an empowered mom who advocates. I have learned through my research and by connecting with the Marfan community that many lives have been lost due to lack of knowledge and awareness.

This syndrome affects 1 in 5,000 people. Approximately 3 out of 4 people inherit Marfan syndrome from a parent. But some, like Cohen, are the first in the family to have it, which is referred to as spontaneous mutation.

As a nurse at Oak Street Medical and a devoted mother, I’m doing all that I can to increase awareness of this under-diagnosed condition. February is National Marfan Awareness month — there couldn’t be a better time to spread the word.

It should be well known in the general population as well as in the medical community. Many lives could be saved if more people in the general population, as well as the medical community, were aware of the signs. If this reaches just one person who recognizes these signs in someone, then I have done what I have set out to do. For more information on Marfan syndrome and related disorders visit www.marfan.org.