The Rogers Family: Marfan Syndrome Journey
Our life with Marfan Syndrome began in the Labor and Delivery room at Medical City. During active labor, my blood pressure would spike and our baby’s heart rate would drop. I was terrified. I felt like I might be dying because everything just felt horribly wrong and the nurses were coming and going with visible looks of concern on their faces. Sensing something was going wrong with the baby, my OB told me I had two pushes left or they were going in for a C-section.
With fear-fueled adrenaline, I pushed and he was out. But something was wrong, instead of handing me the baby my doctor was frantically unwrapping his umbilical cord from around his neck. I think they told me it has wrapped around about five times. My worry was brief because then he seemed fine and I was able to hold my new son, Charles Patrick.
While I snuggled him in awe that first day, I started to notice something odd about his hands. His fingers were clinched but not in a fist, they were bent at the knuckles and folded completely backwards on the top his hands. They looked like little frog hands.
I asked the pediatrician on call about his hands and she seemed unconcerned and told us he was probably double jointed. My gut wasn’t convinced. I brought it up again when our pediatrician visited the next day and without hesitation he told my husband, Patrick, and I that he was ordering an EKG to determine if Charles Patrick had Marfan Syndrome. The EKG indicated an enlarged aortic root which can be contributed to Marfans.
We were scared and confused. What did we do wrong? What causes this syndrome? Patrick underwent genetic testing to see if he was a carrier of the gene that causes Marfan. He wasn’t so Charles Patrick’s Marfan Syndrome was random. They call it a spontaneous mutation. This random mutation brought on a rollercoaster of emotions. And soon, as we learned more, the life we imagined with our son would be re-envisioned as we learned more.
My first year as a mom was a blur. I had expected little sleep and “first time” mom nerves, but the added stress of what might happen to Charles Patrick was sometimes completely overwhelming. I remember changing his diaper and thinking, what happens if his heart just bursts? I was a mess with worry. Patrick and I still say thank God we were in a big city like Dallas because a doctor who had never seen Marfan Syndrome in a new born might have missed it.
Getting an early diagnosis was incredibly important and, although it was hard to hear Charles Patrick’s life would be more challenging, knowing what we were up against allowed us to advocate and act on his behalf. With our awesome pediatric Marfan specialist, found the best medication to slow down the enlargement of his aortic root, and had check-ups every three months to see if the medication was working.
Eight years later, our check-up appointments are only once a year. At some point in the future, Charles Patrick will need to undergo heart surgery to repair his aortic root. However, that date continues to move further down the road because the medicine he is taking seems to be doing an extraordinary job.
Charles Patrick lives the life of a typical eight-year-old – with modifications. He has had occupational therapy to help with difficulties resulting from his over flexible joints and wears glasses because of retina issues associated with Marfan Syndrome. He will never play contact sports but right now he enjoys playing soccer, building legos and just having fun with friends and family.
Last year he was diagnosed with Dyslexia. This diagnosis was a splash compared to the Marfan diagnosis tidal wave. Patrick and I have weathered this life together…researching and learning. It has made us stronger than we ever imagined. It has also provided us with an empathy toward others with special situations or special needs that we may not have had otherwise. Charles Patrick started a new school this year and is fully supported so he can thrive in spite of the Dyslexia and Marfan obstacles along the way.
He knows something makes him different from other and that he is double jointed--- but he thinks that is cool right now. Do we worry that he will stand out more as he gets older because of his noticeable differences? Of course, but what parent doesn’t worry about their child being bullied? He has a heart of gold and is kind, caring and funny. He is also an awesome big brother to his sister, Stella.
We encourage parents to trust their guts and ask the hard questions. And if your child receives a diagnosis…research, advocate and look for every opportunity to provide the life for them that they were born to live.
More on Marfan Syndrome from The Marfan Foundation
1 and 5,000 babies are born with Marfan Syndrome. Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. Signs: • Long arms, legs and fingers • Tall and thin body type • Curved spine • Chest sinks in or sticks out • Flexible joints • Flat feet • Crowded teeth • Stretch marks on the skin that are not related to weight gain or loss