Diagnosis Returned Hope to Our Family
By Sarah Moore
Over the past 15 years I have lost my mother, had a high risk pregnancy, had a brain aneurysm repaired, had a chronic dissection on a carotid artery, spontaneously ruptured a pulmonary artery, dissected both my ascending and descending aorta, had a coronary artery fail, and I’m now waiting on a surgical date for the repair of an aortic root aneurysm.
Without my Loeys Dietz Syndrome diagnosis I don’t know that I would have survived all these things.
My mother had to walk her path not knowing how to define what was going on with her. I’ve heard my grandmother reflect many times about how hard it was to get specialists to listen and to care about all the seemingly random things that were going on with my mother. I have also watched my grandmother tear up while telling people how her granddaughters have a name for what affects them and a team that cares for every aspect of their care. She lost her husband when they were in their twenties. She also lost two daughters to the then un-named thing that seemed to run in our family. Then there was a definition. Now her three granddaughters have a diagnosis to use on their medical records and a starting point for their medical care.
And grandma knows that her great grandchildren will not go through what their mothers went through because there is a genetic test that could answer that question before they were even born.
My family was one of the original 52 families that were studied to define Loeys Dietz Syndrome. In the beginning, no one knew what I was referring to when I told them my diagnosis. Now, 15 years later, many physicians and medical personnel know what I am talking about and are happy to learn even more. The definition will make all the difference to my longevity.
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