Matters Of Heart - Spring 2012

Meet Monica - SMAD3 Contact, cont.

Dylan"Our story began in December 2011 when I got an unexpected call from the hospital saying my ex-husband had had a full aortic dissection and that I should get there before he went into surgery. During his surgery I kept thinking, "How could this have happened? He is fairly young and in good shape?'" Thankfully, the surgery went well and we are thankful he is still with us. During the day, as many doctors were going in and out of his room, one stopped me and told me that I should have our son checked because most likely this condition is genetic. The next day I made an appointment for my son Dylan (8 years old), but never thinking in a million years that something might actually be wrong. A few days later we went to the cardiologist and they began to do some testing. After the echo on his heart we found out we DO have a problem and Dylan has a dilated aorta in 2 locations. How could this be?


After some negative genetic testing for Marfan and Loeys-Dietz syndrome (TGFBR1/2), our cardiologist and genetic counselor tested for mutations in SMAD3 and, finally, we had a diagnosis. LDS type 3 or what some call aneurysm-osteoarthritis syndrome is what my son has. He has many of the traits that go along with LDS Type 1 & 2, such as the dilated aorta, an aneurysm in his head, scoliosis, tortuous blood vessels in his neck, and early onset osteoarthritis (which all these years Dylan's joint pains was put off as growing pains).

In less than a year, our lives have been turned upside down. I would love to hear from other families going through this and be part of a greater movement to educate people LDS.

In the LDS community we are all connected no matter what type you have. I look forward to learning about all the new research that is going on and I am hopeful for things to come to help my son and others like him."

Connect with Monica by emailing her at ms6817@windstream.net.

LDSF

   

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