Hope for Lincoln

Lincoln Hervatin was diagnosed with Loeys-Dietz syndrome at age 1.

The Hervatin Family, Glendale, Arizona

When Lincoln was born, he had Pierre Robin Sequence (small chin, cleft palate, and a tongue that is placed further back); he had two lazy eyes, soft translucent skin, long toes, and a big toe that pulled inward. Since he had a cleft palate, we were referred to a geneticist to see if there was a genetic cause. Lincoln had the normal genetic workup for a cleft palate, and everything was negative. The geneticist mentioned that if we wanted to, we could have further genetic testing done where they compare Lincoln’s chromosomes to mine and his father’s to see if there were any differences.  The geneticist mentioned that the testing was rather expensive and usually everything came back negative, but if we wanted to, we could do it. I couldn’t stop feeling like all of his diagnoses were just pieces to a bigger puzzle that we hadn’t figured out yet. We opted to do the testing and found out that Lincoln had a new mutation on the TGBFBR-2 gene that neither my husband or I had. We finally had an answer. His mutation and all of his symptoms and diagnoses were consistent with Loeys-Dietz syndrome.  

So at 12 months old, Lincoln was diagnosed with Loeys-Dietz syndrome. The first thing we and all of our providers thought about was “what is Loeys-Dietz syndrome and how do we treat it?” A few said, "Its like Marfan syndrome, right?" We quickly learned through listening to lectures from previous conferences on the Foundation’s YouTube site that it was and so much more.    

We learned that aortas have a lower threshold for dissections and ruptures, and there can be GI problems, allergies, skeletal problems, and more. As a parent, you want to make sure you are doing everything in your power to keep your child as healthy as possible. It was overwhelming to learn about Lincoln's diagnosis and also learn that we had to help educate our son’s providers on his condition and where they should get the most up-to-date information.  

I took a copy of the Loeys-Dietz syndrome: a primer for diagnosis and management to our pediatrician, who had not heard of LDS. That resource gave her a basis for aiding in our son's care. We also discussed the correct dosing of Lincoln's heart medication with his cardiologist and why higher doses are needed in LDS patients. I have been able to put some of my fears at ease after reading about common and uncommon manifestations of LDS type 2. Having research available also meant that I was aware of things to watch out for and what we should be concerned about.

Since the LDS was first described in 2005, great strides have been made in understanding the disease, its effects on patients, and how to help make lives longer and fuller for all LDS patients. We know what types of exercise are appropriate and what medication will stabilize or slow the progression of aortic growth. And with the latest research into an LDS biomarker, we may get to witness a whole new way to monitor and treat those with Loeys-Dietz syndrome.

We are thankful for all the people who work hours on end trying to find answers to so many questions that plague LDS families daily.  The future looks bright and full of hope for the Loeys-Dietz community, thanks to all of the wonderful people who dedicate their lives to finding answers about LDS. With all of the amazing research that has been done on LDS, we are able to keep our Lincoln as healthy as possible. 

-Julie Hervatin, Lincoln’s mom