A Loeys Dietz syndrome interview .

Derek's interview

How did all start?

When I was born (March 1987), the delivery doctors took one look at me and I was rushed to Children's Mercy Hospital Kansas City because of the color of my skin being stark white. They knew there was something wrong. At just six hours old I had an emergency surgery. The surgeon performed a hiatal hernia repair and a fundoplacation. During my next ten days at the hospital I was monitored and observed before going home. Recently, I acquired my records and found out via the observation and surgical notes that they suspected Marfan's Syndrome but combated that with other observations that didn't fit the bill. Thereafter, at every appointment of every specialist and PCP that followed me, we went with Marfan's as the diagnosis. Years go by and life happens, I'm in my second marriage, wife pregnant with our first son (her third and my second, our first together). We go in for our 37wk scan and follow up and they see something they don't like. We get referred to Children's Mercy for a better scan, doctor says they see a hernia and that she is low on fluid, then tells us we are having a baby that night. They did confirm that there was a hernia, although it was hard to tell in utero and they would have to scan him once delivered. They gave us the worst case scenario and said he would be intubated immediately, get him hooked up to monitors, then scan him and see what's going on to create a plan. Two days later he has the same procedures (revised since 1987) that I did thirty-two years ago adding a G-tube due to an open cleft pallet. During the ten days he was in NICU, they observed and monitored him and observed myself as well due to the similarities. The genetics team then says we need to do a genetic screening. Since I was a prior patient there, they were able to do mine there(even being an adult), which was amazing. They also informed me that aside from my bifid uvula, I too have a sub-mucus cleft pallet, only difference was that mine had just barely closed and had not caused any complications with eating or speech. When the genetic results came back, they told us that we had a very rare genetic mutation called TGFB-3 Loeys-Dietz Syndrome Type 5. Ever since, my son and I have had our own teams of specialists of whom we see now on a regular basis.

Do you already have a diagnosis? How long did it take you to get it?

I was properly diagnosed at 31 years old. My strand of mutation was only described in 2014, and the general disorder described in 2005.

For what medical specialties have you been treated? What has been the most useful specialty for your?

I have been treated with cardiology, orthopedic, orthotic, orthopedic surgery, spinal surgery, neurology and I'm sure some others I'm missing. Cardiology and my orthopedics by far the most useful for my enlarged aortic root and my"odd" feet.

What has been the most useful thing for you so far?

The most useful thing for me so far is my drive. Just doing what I want to do (within reason). Not letting my disorder hold me back.

What have been your biggest difficulties?

I did learn though, the hard way that my activities of my adolescence have made my more recent years a struggle. I was a little hard on my body.

How has your social and family environment reacted? Have your social or family relationships changed?

My family and friends have always been supportive, and i have always stressed them out with my adrenaline seeking lifestyle. Since my decline and diagnosis though, they have grown more concerned and i have had to dial back the excitement, fortunate for them.

What things have you stopped doing?

I've stopped doing my adrenaline junkie activities and I've settled down more. I've stopped working due to physical instability sitting and standing all day. I've stopped stressing about the little things as much(still working on this one).

What do you think about the future?

I worry about the future. I worry about my being and my quality of life, both reasons I've quit the workforce. I worry about my time with family and friends and worry about things I might have to miss out on. I think about heart surgery for my son and I. I think about my wife going through all of this as well as our other three boys.

So far, which years have been the best years in your life? What have you done during them?

I can't put "best" on just a few of my years because the has always been something best about each one, especially when I met my wife and grew our family They have all brought joy in one form or another.

What would you like to do if you didn’t have your condition?

I am sure I would have gone out for sports but I still don't feel as though I missed out. I chose extreme sports and engines and such. There isn't much that I held back on.

If you had to describe your life in a sentence, what would it be?

Full of adventur, excitement and love.

Finally, what advice would you give to a person in a similar situation?

Follow what your body tells you, don't ignore the small things. Find someone who truly gets you and advocates for you like I did with my wife.

Interview Loeys Dietz syndrome

May 12, 2019

By: Derek

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