- Loeys Dietz syndrome
- Interviews
Lexi's interview
How did all start?
My grandmother had an aortic dissection when I was very young. When this happened her three daughters and their children got tested for Marfans Syndrome. One was diagnosed (my mother) one was diagnosed with Ehlers-Danlos Syndrome, and one was inconclusive.
Do you already have a diagnosis? How long did it take you to get it?
I (along with my mother & brother) lived for years with the diagnosis of Marfans Syndrome. Through much persistence of one of my aunts, it was found she had the gene for Loeys-Dietz Syndrome type 4. My mother got tested in 2015, then it was found I had it in 2016. I was 20 at the time.
For what medical specialties have you been treated? What has been the most useful specialty for your?
A handful really.
I was born with a clubbed foot, which has required many surgeries. As well as being diagnosed with osteopenia, so an orthopedic doctor & surgeon has been very helpful.
It was discovered I have a cyst on my spine when I was about 5-6 years old. I have had two surgeries on this and am about to be having another one soon. Neurologist and neurosurgeons have been extremely helpful for me.
And one of the most important is my cardiologist. I've had an aortic root anuerysm for most of my life and having a good cardiologist has been helpful. The one I currently have orders the tests I need to check for aneurysms throughout my body.
