Katy Hornsby & family- Marfan syndrome & other mutation
In honor of her mother, Elizabeth Rice
While having Marfan syndrome has been challenging at times, I make a point of trying to focus on how fortunate I am. Foremost, I was so fortunate to be diagnosed with Marfan syndrome at the young age of 5. My mother was a teacher at the time and realized Marfan syndrome might run in our family after having a student who was diagnosed with Marfan syndrome. My grandmother likely had Marfan syndrome, but was never diagnosed. She died of an aortic aneurysm at the age of 51 and exhibited many of the classic features of Marfan syndrome. My mother and I looked very similar to her.
My mother presented information about Marfan syndrome to our family doctor, who sent us to be formally diagnosed. Thus far, I have had only very mild complications. Up until age 11, I had frequent issues with my knee joints, but thankfully I grew out of that. My aorta is still within the normal size range, which I likely owe to my early diagnosis. I was treated early with beta blockers and have adapted my lifestyle to minimize the impact on my aorta. I exhibit many of the physical features of Marfan syndrome. I also have mild scoliosis and experience some back pain. Overall, I know that I am so lucky to have avoided so many potential complications of Marfan syndrome. I am so appreciative of the good health I have and this motivates me to maintain my health.
My mother did have some aortic enlargement when she was diagnosed. She was monitored for it, but unfortunately experienced an aortic dissection in 2002. The dissection was able to heal initially, but she subsequently went on to have surgery to replace one of her valves and a small part of her ascending aorta in 2004. A year later a 6 inch stent was put in to reinforce the enlarged aorta. She has also experienced a number of the ocular complications related to Marfan syndrome. She has persevered through all these arduous complications, and has celebrated her 70th Birthday this year.
Due to my Marfan syndrome, along with my love of children, I have always felt adoption was the way I wanted build a family. My wonderful husband was completely supportive of this and we began the adoption process shortly after we got married. We are now parents to 3 lovely little boys. They are 5, 3, and 1. Our 3-year-old was diagnosed with a very rare chromosome microduplication (16p13.11 microduplication) shortly after we adopted him. Though much more research is needed on the physical and developmental traits associated with this rare duplication, one health risk thought to be linked to it is, Thoracic Aortic Aneurysms and Dissections (TAAD).
While this kind of diagnosis may have been frightening and overwhelming to many parents, our son happened to find himself in a family with extensive experience in managing aortic health. Thankfully there are no issues with his cardiac health so far. Our 1-year-old son is a biological sibling of our 3-year-old and is currently being tested for this same chromosome duplication.
Knowing that GADA is working to improve care and support for people with Marfan Syndrome, as well as those with genetic aortic disorders, brings me great hope for the future of my family's health.