Musings of a Marfan Mom

Rachel, Tony, & Sam’s Story

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Going into parenthood is an exciting, scary, and exhilarating point in anyone’s life. When my husband and I had been married for a year, we decided it was time to start trying. Going into it we knew that our child would have a 50/50 chance of having Marfan syndrome (MFS), because my husband carried the gene. We were ok with it. We had thought through the decision very carefully and decided that Marfan syndrome had shaped my husband into the amazing man that he was. If our child were to be affected, we figured it would also shape them into the person they were supposed to be.

Our beautiful baby boy, Sam, came into the world on October 29, 2008. He took our breath away. He was perfect. At 6 months old we received the phone call from our geneticist office with the results of his DNA test.

“Mrs. Conklin, your son tested positive for the gene. It is 100% certain that he has Marfan syndrome. I’m so sorry.”

And that’s when my world changed. It changed because this was my beautiful, little, perfect son, and I knew the long road that awaited him. It is so different going from thinking about your child having it, and staring into his perfect little eyes, and knowing he has it.

MFS presents differently in everyone, but if you carry the gene, it will present physically in some way. It affects the connective tissue in the body including the heart, eyes, chest, and lungs. My husband has had quite a few issues in his life from it-he’s had 2 spinal surgeries, 2 chest surgeries for his pectus excavatum (the indent in his chest), and most recently he had open heart surgery to repair his enlarged aorta and replace his valve. He’s only 33.

I was literally terrified at what awaited my child.

My next step, after talking with my family, was to get online and research. And that’s when I found the National Marfan Foundation (or NMF for short). It is a foundation dedicated to research, education, and support for those with Marfan syndrome and related disorders. It has literally been a lifesaving place for me, in more ways than one.

Because of the research they are doing, the outlook for Marfan patients is continuously improving. Marfan patients used to have a lifespan of about 32 years, and this has been amazingly improved to about 72, a vast improvement to say the least. This is why money for this cause is so incredibly important. Research takes money and it is my absolute sincerest hope that the NMF wins the Chase Community Giving Challenge for this reason. I hope they win because it will undoubtedly benefit my son, my husband, and all of the amazing people like them.

My son has aortic enlargement like his father. With the research that is currently being done, there is the potential that he might never have to go through open heart surgery. That gift is one that can’t be expressed in words.

I have connected with hundreds of other mothers, fathers, and family members that are somehow affected by Marfan Syndrome. This has also been an invaluable gift that the NMF has given me. As a human being, we all want to be understood by others and not feel alone. Sometimes in this journey, I have felt so alone in the fight for my son’s health that I have been brought down to my knees. But then I speak with other parents who are fighting the same fight, some with far more severe cases than my son, and I don’t feel so alone anymore. I feel a part of a “family.” It is a wonderful thing.

My husband Tony had known since he was 15 that his aorta was enlarged. Because of this, he got it checked every year to make sure it wasn’t growing any bigger. We knew that once it reached a certain size, surgery would be recommended. But it never did. Then when he was 31 he started going in and out of A-fib, which is basically where your heart is beating incorrectly. The National Marfan Foundation directed us to Johns Hopkins, where there is an amazing amount of research being done. We flew there and after an echo we were promptly told that my husband would need surgery because he was at risk for a dissection. This is where the aorta basically tears, generally resulting in death (it is what John Ritter passed away from). The doctors in our hometown hadn’t been measuring it correctly.

If we had not had the National Marfan Foundation to guide us towards Johns Hopkins and the right doctors, my son could have potentially lost his father and I could have lost my best friend. Please vote for the National Marfan Foundation to win. There are so many families that depend on it.

Please, support the NMF by casting a vote for them in the Chase Community Giving Campaign. Any money won will go to support programs that promote early diagnosis.

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7 Comments

  1. Thank you for sharing your story! Your little man is precious.

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  2. Thanks SO MUCH for sharing your story.

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  3. There are many similarities between your family and mine. My husband is now 50 and has had two open heart surgeries to replace a portion of his aortic arc and valve. Fortunately, my husband is now incredibly fit and healthy. We have a lovely daughter, now 9, who has almost every marker of Marfan’s and another lovely daughter, now 7, who appears to have bypassed the Marfan gene. We are a happy family. I also believe that having Marfan’s has helped shape my husband into a remarkable person. He is compassionate and kind, and strives to enjoy each moment. There are benefits to having Marfan’s in the family!

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  4. My son also has Marfans, but in his situation it was not inherited that we are aware of. Neither his dad nor myself has Marfans. It’s a very scary situation. I have no one to relate to on this matter and the doctors around here don’t know much about it. I think sometimes I educate them more then they educate me. I pray your son lives a long and happy life.

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    marfmom Reply:

    Malinda,
    I’m sorry to hear that your son’s doctors don’t know much about it. There are lots of us who can relate to you though! Have you connected with the NMF? They have a telephone support group for parents who have children with Marfan if you are interested: jbuffone@marfan.org is the contact person (Jennifer Buffone). There is also an annual conference, and a social networking site: http://nmfconnect.marfan.org.

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  5. Thank you for sharing your story! It was uplifting to hear someone else with a story so similar to my own. My husband was diagnosed with Marfans as a child, and had heart surgery at 24 (a year after we were married). We have two children – a five year old girl that does not have the Marfans gene and a 21mo old that tested positvie for the gene shortly after she was born. Even though having Marfans has helped shape my husband into the wonderful person he is today, it has been difficult to accept the long road that lies ahead for my beutiful little girl. Wishing the best for your family!

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  6. Thank you for sharing your story. Mine mirrors yours all the way in the UK. My husband and two boys aged 6 &2 all have Marfans. It is a scary place to be sometimes, but with new research and treatments hopefully the future for people with this and their families looks brighter.

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