Thursday, April 14, 2016

Loeys-Dietz Syndrome

Letter K  of the A-Z blog challenge has been excused from my alphabetic posts for good reason: my daughter came home from Florida last night and I was busy all day prepping, worked in the evening, and stayed up  from her 10:30 PM arrival till after midnight consoling her. Blogging was not important.

But that brings us to the Letter L...

In case you're wondering, the genetic disorder is called Loeys-Dietz Syndrome. It was named for the two main physicians who researched for nearly 20 years before isolating the gene responsible.

My husband's side of the family (and all the offspring) have had the "privilege" of being seen directly by one of those researchers-- Dr. Harry Dietz , of Johns Hopkins University.  I say "privilege" because--well, being a test subject in studies of a connective disorder that has proven fatal in the family isn't exactly enviable.

My kids remember having echocardiograms, "wing span" tests, eye exams, poking and prodding in their palates, bending every which way while trying to remain modest with a hospital gown on, and
hearing they might have to put raw spaghetti up their noses. They had their skin pulled on, their feet measured, their ears bent (literally), their kneecaps rattled, and on and on. My daughter says it felt so invasive, that it was the beginning of her hating to visit any doctor.

That being said, to have the head of genetics at this world-renowned hospital looking at you--not just your file or your films--is indeed a huge blessing. He is a genuinely caring person who never made any of us feel rushed or stupid or annoying. When I asked, "What do we do if we ever get to an ER and need to relay information about this rare condition to them in a hurry?", Dr. Dietz handed me his card with his cell phone number on it.  "You have them call me any time, day or night, I'll take care of it."

It really doesn't get much better than that.

The family has actually been treated like VIPs in the genetics department at Hopkins.  Don't be jealous, but to say we're a big deal there isn't far from the truth. In fact,  they were calling the syndrome by our last name before Dr. Dietz and Dr Loeys (of Belgium) renamed it for themselves.

Essentially, because of Loeys-Dietz Syndrome,  my hubby had to have the cardiac surgery which I'm blogging about in this A-Z Challenge.


Susanne Matthews said...

Wow. I can't imagine how difficult this must be for all of you. Hugs and hope you stay healthy.

Tamara Narayan said...

That sounds tough. We found out my daughter had arthritis at age 2, so yeah, we've spent our fair share of time at the doctor's office. Luckily, her condition is being managed well with medication.

Susan Kane said...

This is a large heritage to carry around. And how it has affected your whole family is frightening. But, God hold you in His hands. And that is an excellent place to be.

Ann Bennett said...

You have my sincere wish that they find better treatments for your husband and your children are unaffected. I think we would all be surprised about what lurks in our DNA. We have an inherited disorder in my family.