Loeys-Dietz: From Adversary to Part of the Family

Megan, Eli, and Sam Neisius at the Milwaukee Walk for Victory in 2022

“Looks more dysmorphic than when I last examined him. Small chin, more noticeable. Eyes slant down. Ears low set. Tall cranium. Long fingers and toes.”

These were the words the doctor used to describe our son, Eli, in the NICU. Looking for answers to his low muscle tone, genetics was consulted to search for characteristics of a genetic condition. The doctor was doing her job, but when I read those words in his chart, my mama heart broke. Because I only saw my beautiful baby—not slanted eyes, or low-set ears. I saw a baby who was made exactly how he was meant to be.

Loeys-Dietz entered our lives like it does for many---unexpectedly. Eli was born six-weeks early and spent the first two months of his life in the confines of the NICU. While under the microscope, doctors became concerned with Eli's delayed progress. Numerous blood tests, scans, and consults were ordered in an attempt to find answers. Without context, these felt terrifying. What could be wrong? Would he be okay?

When we got the diagnosis for Loeys-Dietz, I remember feeling an odd combination of both fear and relief. Having a diagnosis felt powerful. It was the answer we were searching for--the reason for the unusual characteristics, the culprit of the low muscle-tone. It was information; it provided direction. We could move forward, make a treatment plan.

Truly, there was hope in diagnosis--but there was also fear. Without a medical background, I barely understood the definition of low muscle tone, much less the dilation of the aorta. Medical terms were coming in waves those first few weeks, and I could barely keep my head above water. How could I make educated decisions or be a caretaker for a child with a condition I did not understand? 

And in those first few days, weeks, months---I felt severely underqualified. Bringing home a child with complex medical needs was overwhelming. It felt like I would never get used to the constant appointments, additional medications, and specialized equipment. For awhile, it felt like we were only surviving---far, far away from thriving.

With time, though, it became easier. Each day, we moved forward and adapted. Medications and equipment were part of our everyday routine, and our appointments felt like more of a social hour than an inconvenience. The more research I did, the more confident I felt with Loeys-Dietz. It was no longer an adversary, but simply an addition to our family. 

Through this diagnosis, we have been empowered to become better advocates, caretakers, and parents. We have grown our understanding of medicine and gained an appreciation for healthcare providers. We have forged lifelong friendship an found our fit within a community.

We never could have predicted that Loeys-Dietz would be part of our story,  but as we have learned, some of the very best things in life happen unexpectedly.