Musings of a Marfan Mom

Tara-Lee & Alexa’s Story

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“The lens in your daughter’s eye is dislocated.”

And with these words, our journey to a Marfan syndrome diagnosis began.

Our beautiful daughter Alexa was born in April of 2003. She was perfect. She was our first baby and we were over the moon for her. I can still remember how family and friends commented on her beautiful lips, her perfect face and her long fingers and toes. As Lexi grew, she was taller and thinner than other children, however, my father is long and lean, and so we just all thought that she had inherited his slim build. Buying pants for her was a challenge with her long legs and tiny waist, so we relied heavily on adjustable waistbands and my mother’s keen sewing techniques! There was no reason for us to assume anything was wrong with her and we went along with our routine, welcoming two more daughters and eagerly anticipating the birth of our first son in December. Life was good.

One day when Lexi was in Senior Kindergarten, she came home with a note advising us to make an eye appointment for her to follow-up with an exam that had taken place at the school. Because I have poor eyesight, I thought nothing of it and proceeded to make the appointment. It was after this appointment, and a referral to an eye specialist in another town, that we heard those words mentioned above. At the second appointment with the eye specialist, he actually mentioned Marfan syndrome, but due to my morning sickness and tiredness, I quickly jotted the term down on a scrap piece of paper and inwardly dismissed him as not knowing what he was talking about. In my mind, nothing was wrong with our daughter. We left that appointment with no new information except another appointment with the Children’s Hospital in a city outside our community. How little I knew.

Many appointments later, including one with an ophthalmologist, we were found sitting in a genetic counselor’s office with our daughter. I observed how the counselors studied her as she walked into the room and how they stared at my nine months pregnant belly (probably hoping that they didn’t have to deliver a diagnosis to a woman who looked ready to deliver!). After a few exercises and questions, examinations and conversation, the counselor looked straight into our eyes and very plainly said, “I think your daughter has Marfan syndrome.” At that moment, we could not believe we were hearing this. We had gone to that appointment not thinking we would hear anything of the sort, and now, with her words, our lives had changed forever. I glanced over at our sweet daughter, who was five at the time, and tears began welling up in my eyes. Does she understand what was just said? Is she confused? How can I help her? What does this mean? What is my husband thinking? Why can’t I stop crying? How did this happen? Tears, please stop! One month and three blood tests later, her diagnosis was confirmed along with our test results which clearly indicated that this syndrome in our child was caused by a spontaneous mutation during conception. Our sweet girl had Marfan syndrome.

So began our journey. Starting out, we were given a few out-dated pamphlets on the syndrome, but nothing that was helpful and comprehensive. We were left to make decisions that perhaps we didn’t feel completely comfortable making. We were left with questions as to what we should allow her to do and how to make her understand what was going on in her body. So much of our energy and prayers were focused on HOW. How do we navigate this? How did this happen? How do we make her see what is going on? How do we communicate this effectively to her school and teachers and friends and family? How do we keep her healthy? How, how, how?

At the end of these questions, in my searching and searching for the right answers, this is when the National Marfan Foundation’s website became an important part of our journey. My questions were answered. I was able to read other’s people experience with Marfan syndrome and could relate so well.

As a mom, with three other children to care for and limited down time, I was glad to know that I was reading the best and most up-to-date information surrounding the syndrome and any new advances in research. We received a copy of the DVD, “In My Hands” which was instrumental in our healing process. Before another school year began, I ordered and received many hand-outs and information from the National Marfan Foundation’s website to give to Alexa’s teachers, principal and care-giver. With the website’s guidance and information, I was also able to personalize a “Marfan syndrome” info sheet for the key players in Alexa’s life. By receiving their children’s book on Marfan syndrome, my girls began to understand what their older sister was dealing with. Through social networks and blogs, I have gained positive connections with others who are dealing with their own diagnosis and this has also broadened my understanding of Marfan syndrome and how it affects us all differently. Information is power and when it comes to the well-being of our children, the more we know, the better we are for it. I have not been disappointed with the vast amount of resources that are now available to us. The NMF delivers!

So, three years into this journey, life is still good. Alexa is a bright, inquisitive, witty, and sweet girl of eight years old. She is tall, thin, wears some pretty cool glasses and is monitored monthly and yearly by cardiology, an ophthalmologist and a pediatric doctor. At her most recent cardiology examination, we were told that her sweet little heart is beginning to show early stages of mitral valve prolapse. Each day that we have with her is a gift. We love who she has become and cherish all of our memories that we have had with her. Who knows where we would be today if it had not been for her early diagnosis? We are not guaranteed much in this life, but we can guarantee that she will experience all that a good life has to offer her: love, acceptance, joy and peace. And as her parents, we have committed to traveling this journey with our daughter with wisdom, grace and love. We are so thankful for others who are willing to share their stories with the Marfan community and hope that our little story has encouraged you and caused you to look at your own story with love, acceptance and courage.

Each one of us will have a different story; a different diagnosis, different characteristics, different support, and different needs. However, as a community, we are all in this together. And that is a good thing. Thank you to the National Marfan Foundation for all that you do!

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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4 Comments

  1. Thank you for sharing this story; Alexa is a beautiful little girl! I appreciate her and her family being willing to tell their story and help others understand Marfan Syndrome better.

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  2. Thank you for sharing our story. Our experience with our sons diagnosis is much the same as yours.

    Blessings,
    Larie

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  3. Your story was very touching & also very similar to when my son was diagnosed, thanks for sharing & may they live long happy lifes xxx

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  4. What a beautiful picture! Thanks so much for sharing your story. This is a wonderful series and I’m learning so much on behalf of my son. Best wishes!

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