- Loeys Dietz syndrome
- Interviews
David's interview
How did all start?
In 2003 my eldest son was diagnosed with Marfan Syndrome, and about a month later I had an acute aortic dissection whilst abroad from the UK on business. In the ER I diagnosed my own dissection and luckily was airlifted to an excellent hospital and surgeon. The diagnosis was initially Marfan Syndrome.
Do you already have a diagnosis? How long did it take you to get it?
I attend a Marfan Clinic regularly along with my 2 sons, and the geneticist began to question whether we had more symptoms of Loeys Dietz syndrome and we had our DNA tested around 2011. We have a novel mutation, and eventually we were diagnosed with Loeys Dietz.
For what medical specialties have you been treated? What has been the most useful specialty for your?
Cardiovascular.
What has been the most useful thing for you so far?
Surviving!
What have been your biggest difficulties?
Because I’ve passed this on to my children I feel incredibly guilty. I’ve got a science PhD and work in cancer research, and know a lot about clinical science, genetics and human disease. My mind knows that it’s not my fault, but my heart tells me I’m responsible.
I’ve had to readjust many of my career goals and take on slightly less than I would have before I was diagnosed. I’ve turned down some very good job opportunities over the years because I recognise that I have to take more care of myself.
How has your social and family environment reacted? Have your social or family relationships changed?
As my sons are affected, all of our lives have changed direction, which has made it relatively straight forward.
What things have you stopped doing?
Some sports, and strenuous activities
What do you think about the future?
After my dissection I focussed on my children’s upbringing and set a goal to survive until they reached adulthood (achieved!!), and mentally I thought I would live for 20 more years. That started more than 15 years ago, and my view has now changed slightly so I think I’ve maybe got 10 years left. This does help when I think about longer term goals, and in making sure I take the time to focus on what’s important day to day and not planning years ahead.
So far, which years have been the best years in your life? What have you done during them?
Probably my 40s, which were 5-10 years after my dissection and when I rebuilt a life. I got some dogs, and learned to live alongside them, and to focus on how they think and live only in the present. I’ve had some great holidays with my wife and our sons, despite the cost because I’ve realised that life is something to be enjoyed in the moment.
What would you like to do if you didn’t have your condition?
I’ve got no idea, and haven’t thought about this for years
If you had to describe your life in a sentence, what would it be?
Hard at times, but worth living for.
Finally, what advice would you give to a person in a similar situation?
Don’t be too hard on yourself and don’t over analyse or spend all your energy and thoughts on it. I did for about 3 years after I dissected, and never learned anything more, but became worried and anxious. Don’t be defined by Loeys Dietz. I’m not a Loeys Dietz patient. I’m a patient with Loeys Dietz.
