Passing on my Genetic Syndrome to my Child

At my 20-week anatomy scan, we learned that my first born had clubbed feet. I knew something wasn’t right when the ultrasound tech got really quiet and starting making noises like “hmm” and “ohhh.” I was transferred to another room and then my doctor came in to deliver the crushing blow. I struggled to maintain my composure. All I wanted to do was roll up into a ball and cry.

I mean, it’s not like I didn’t think it would be a possibility that my baby would have some kind of abnormality since genetic deformities run in my family. I have some deformities in my hands myself. I think I had just blindly convinced myself it wouldn’t happen, couldn’t happen. But I was not prepared for something like clubbed feet. Along the spectrum of genetic abnormalities, clubbed feet is probably on the less intense side. It can be treated and corrected after birth where as I know some genetic abnormalities cannot. But I was devastated to say the least. I had to let go of the idea I had in my head of my “perfect” baby. I envied my friends who were having babies with no genetic issues. “Why me?” I thought.

Club feet causes a baby’s foot to turn inward and upward. Making it very difficult to walk. Doctors recommend treating it immediately.

When Hudson was born, he was every bit of  perfect. Even his little crooked feet. We started treatment the day we came home from the hospital. He got his first set of casts at two days old. He would get a new set each week for eight weeks. Eventually, we moved on to  a set of prosthetic boots and bar.

Our pediatrician ordered a host of tests and scans to rule out any other issues that he may have developed along with his clubbed feet. Finally, we met with a genetics doctor at Children’s Mercy to begin to determine what the cause of the clubbed feet was. It didn’t take long to determine that Hudson’s clubbed feet were a probable deformity from “Duane Radial-Ray Syndrome”. It’s the same syndrome that has caused hand deformities for three generations in my family.

Duane Radial Ray Syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands.

People with a combination of the Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward and upward turning foot (clubfoot), and fused spinal bones (vertebrae).
Source: https://ghr.nlm.nih.gov/condition/duane-radial-ray-syndrome

Hudson does have some malformations in his thumbs that have caused him to have to adapt in how he utilizes his fine motor skills. The way he will learn to tie his shoes, zip zippers, and open and close things will be different than his peers.

We decided to give ourselves time before thinking about more kids. The likeliness of our other children having these deformities was about 50/50. We were given a long list of symptoms that could occur as a result of this syndrome and each child had a 50/50 chance of developing one of those symptoms. Those were startling numbers to us. I wasn’t sure if I could go through the emotional roller coaster again. Not to mention that I knew now that the syndrome would get passed on to Hudson’s children in some way if he ever has them. Living with deformities is difficult to say the least in a society that idolizes perfection. Which is a stupid lie, by the way. Perfect is not a thing.

If  I am being totally honest here, I probably am more affected by his abnormalities than he is. His teachers say he adapts so well and keeps up with his peers just fine. I, on the other hand, probably worry more than I should about the little things that make him different. 

Ultimately we decided we would try again about two years after Hudson was born. We decided the joys of having and raising a child our own far outweighed the struggles we went through with our first.

When we did get pregnant, we were thrilled but with each pregnancy after, I was always hypersensitive to whether they would be born with genetic abnormalities or not. I know it was out of my control, but I still obsessed and worried over it. At our scans, I would ask the technician to check the baby’s feet and hands to see if they could tell if anything was different.

We now have two more children. Neither of them were born with any signs of Duane Radial Ray Syndrome. And I am thankful. While we embrace that Hudson and I both carry the Duane Radial Ray Syndrome, I am glad that not all of my children will have to carry the burden of looking just a bit different.

Anna
Anna was born and raised in Kansas City and is a graduate of MidAmerica Nazarene University. She is married to her college sweetheart and BFF, Ryne, who are both educators. They live in Olathe with three littles; Hudson (5), Lincoln (2), and Charlee (9 months) and their two dogs; Kindle and Lucy. Life is chaotic and crazy. But she’s learning to embrace the chaos. When she’s not doing her teacher thing, Anna enjoys just hanging with her people, shopping, antiquing/DIY, decorating, and working on her dream of having her own blog. Anna loves jumping on the trampoline with her boys, eating Mexican food, dating her husband, drinking wine, Restoration Emporium, and being with her friends and family.