Today’s guest post comes from Valerie, who shares the story of her family’s Marfan syndrome diagnosed. Valerie, thanks for helping spread awareness during Marfan Awareness Month!
“I may be speaking out of school here, but have you ever heard of the Marfan syndrome?”
Those are words I will never forget. It was the summer of 1996 and my daughter Allison was approaching her sixth birthday. The physical therapist from her elementary school suggested we see a podiatrist because she was concerned my daughter potentially had flat feet. As the doctor held my daughter’s foot in his hand, I watched as he gently rotated it almost all the way around. Allison’s height, her long, thin limbs and her loose joints prompted the question. He strongly suggested we investigate the Marfan syndrome. And that’s how our journey began.
Following our trip to the podiatrist, I mentioned Marfan syndrome to our primary care physician. A quick glance at the Physician’s Reference Guide and he agreed we might be on to something. Referrals were made so that a clinical assessment could be done. It took months, almost a full year in fact, to see all of the specialists. Allison clearly had the skeletal features and the cardiac signs however she lacked the ocular component. Therefore, the genetics department began looking at her Dad and me to see if either of us exhibited the characteristics of the Marfan syndrome. In the spring of 1997 Larry and Allison were both diagnosed. We were told to bring our daughter Julie back in three years for another assessment because at that time it was believed she did not have it.
Keep in mind that this was in the era before the explosion of the internet. Any information we gleaned about the Marfan syndrome came from medical journals and at that time the information was not too hopeful. Fortunately, I connected with the Marfan Foundation and they not only provided brochures with accurate, up to date information, they connected me to the president of our state chapter. She persuaded us to go to our first Marfan Foundation conference in New York City. At the time, my husband still did not digest the complexities of the disorder. It wasn’t until he was involved in conversations where he heard about multiple surgeries, dissections, aneurysms, etc. that he began to comprehend the seriousness.
In April of 2000, Larry, at the age of 39, suffered a Type B aortic dissection. It was a miracle he survived it. This was one of those defining moments that changed our family forever. Over the next fourteen years Larry has had multiple hospitalizations, multiple surgeries, MRSA, permanent disability and now, hospice care.
At some point we were asked to participate in a study. Genetic testing was new to the Marfan community and we were willing to donate blood samples for gene mapping. That was how we learned that Julie had the mutation, too. Frankly, getting the news of her diagnosis was very difficult for me to adjust to. Unlike her sister, she did not exhibit “the signs.” I desperately wanted her to be normal. I did not want her to endure the same pain as her dad and sister. Unfortunately, as she has gotten older, a whole host of problems have arisen. Before the end of high school she needed a spinal fusion. Scoliosis was so bad (three curves, 64 degrees, 45 and 34 degrees) it was affecting respiration and she had no choice but to get it fixed. About 15 months later, she had her aortic valve and an aneurysm repaired. She was 18 at that time. Most likely she will need her hip replaced soon because it pops out of the socket quite often.
In all honesty, there were signs from a very early age that Allison was somehow different from her peers. I can plainly recall a time when I took her and her infant sister grocery shopping. Halfway through the store, Allison collapsed on the floor in tears. She couldn’t walk, or so she said, because it hurt. She was three years old and I thought she was just looking for attention. Little did I know, the leg pain was quite real and it would be something that would torment her for years. It was not unusual for her to crawl from room to room because her legs hurt so much. Physical therapy and occupational therapy only helped somewhat. Soon it wasn’t just her legs that bothered her. Chronic chest pain was labeled costochondritis. The cardiologist have noted Tachycardia and Brachicardia at various times. X-rays show her ribcage is twisted plus her ribs literally can shift position. She has a combination of pectus excavatum and pectus carinatum. As a little girl you could see her breastbone protrude through her shirt in the shape of a “C.” Her arches collapse as she walks and her wrists flop. Dural ectasia is present. The list could go on! Most notably, when she was about 20 years old her cardiologist discovered her heart is “in the wrong place.” It has slipped. Chronic pain plagues her to this day.
Each time I take one of the girls to the hospital I tease them and say that other mothers and daughters go to get their nails done or go to the mall. We, on the other hand, go to specialists or spend time inpatient at the hospital. It’s a very real part of our lives yet I refuse to let it define us.
We do not know if Larry was a spontaneous mutation or if there is a genetic history somewhere. He was adopted at the age of 8 months. Looking at photographs from when he was a child and it is quite evident that he displayed a Marfan habitus. But who knew? Who knew that complications from the Marfan syndrome would bring him to this place of chronic illness and disability?
Yet, as bad as we’ve had it I know there are families suffering far worse than us. Fortunately there is a network of people who understand and empathize. There are other mothers and fathers who know what it’s like to send a child into surgery, or to fight with the school for accommodations, or to wonder about the safety of shooting baskets in the driveway. The Marfan community is there to support us! For that I am grateful!
Marfan syndrome affects our lives every single day and the lives of too many others. I think you’ll agree that a cure needs to be found. It is not enough to extend the lives of Marfan patients. What’s needed now is a way to add quality of life, not just years to their lives.