How Our Family Dealt With Our Son's Hemifacial Microsomia

How Our Family Dealt With Our Son’s Hemifacial Microsomia

Last updated on July 24th, 2023 at 11:17 am

I went into labor 3 weeks before my due date. When things happen spontaneously like that it can be stressful to say the least. I was shaking so bad when they wheeled me into the OR to put in my spinal that a nurse had to hug me while I hugged a pillow in order to keep my body still enough for the anesthesiologist to put the needle in. When they pulled him out and I heard him cry it was such a relief. However, when the nurse brought him over for me to hold. He had a large tissue mass on one side of his face and two small ones on the other. After all the stress of the delivery it was a very emotional moment. Once they wheeled me into recovery my surgeon explained to me that the masses were called ear tags. In utero cartilage had slipped underneath his skin from a portion of the ear called the tragus and traveled an inch or so inward towards his mouth. The tragus is that little ridge on the outside of your ear that meets the rest of the face that points towards your ear canal. My surgeon said that it was not uncommon and fairly easy to fix, but we needed to wait until he was at least 3 months before we had them removed.

It wasn’t until my son was a few months old that we noticed that one side of his jaw was developing at a much slower rate than the other. I was at a loss of where to start. Our pediatrician referred us to Children’s Hospital. After looking at my son for a few minutes a doctor who had zero bedside manner told us that he had Hemifacial Microsomia (also known as Goldenhar syndrome). Just like that. These are all the things that are wrong about your son’s face (his face is lopsided, his eyes are too far apart, etc.) and he has this rare birth defect. Oh and be grateful that it is very mild because it could look a lot worse. She gave us no information on what to do going forward, or even what it would mean for him as he continued to grow. She was more concerned in the why than what we should do next. She wrote up blood draw requests for my husband, son and I in order to study our DNA and map our chromosomes. They were trying to figure out if this type of birth defect was hereditary and if so who he got it from. After the tests they determined it was just a random environmental occurrence, meaning that there was no way to predict why, when or how.

I was back at the beginning really and unsure of how to proceed so I started reading medical journals in my spare time, trying to get a better understanding of what was going on. Unsure of exactly what kind of surgeon I would need to remove the ear tags I had my best friend show pictures of my son to the plastic surgeon that she worked for. He noticed the lack of symmetry between the two sides of my son’s face right away and referred us to a friend of his that was an Ear/Nose/Throat (ENT) doctor who he said specialized in these type of things.

My son had his first surgery to remove the ear tags at 3 months. When they were intubating him the ENT noticed that he was also tongue tied and clipped his frenum (the string that connects the tongue to the bottom of your mouth). When we went back to recovery we saw the ENT rocking my son while feeding him a bottle and singing to him. This was a doctor who cared. All of my stress and anxiety melted away. My son’s recovery was nothing short of miraculous. It was like he didn’t even know that he had just had surgery. The ENT then referred us to a plastic surgeon for future surgeries. She did his second surgery in which she removed the remaining ear tags and revised the scars from his first surgery. She then encouraged us to attend a Cleft Pallet Craniofacial Clinic at a nearby hospital that both she and our ENT volunteered at.

On the day of the clinic my son had his vision and hearing tested before we met individually with a Behavioral/Speech Pathologist, Maxillofacial Surgeon, Plastic Surgeon, ENT, Pediatric Orthodontist, Pediatric Oral Surgeon, Pediatric Dentist and a Pediatrician. It felt like a whirlwind of information and faces. We learned that he would need dental surgeries (over the course of this childhood) for fused and missing teeth and a jaw distraction (they break the jaw and put in a spreader to grow new bone to even out the jaw) sometime in middle school. We also saw many children whose condition was much more severe than my son. So severe that it made me feel thankful and ashamed at my thankfulness at the same time. Through this process we were able to make a plan for his future treatment and I tell you knowledge is power. Just by knowing what we had coming in the future put my mind at ease. I am a person who likes to know what is going on, who likes to plan. Not knowing was the torture.

After our pediatrician got his copy of the report from the clinic, he began researching the condition in his spare time. He learned that this birth defect often impacted other organs in the body in addition to the outward signs. He asked a pediatric neuro surgeon colleague of his to order and review and MRI of my son’s entire body when he was 11 months. It was heart breaking watching the hospital employees sedate him yet another time, this time for imaging rather than a surgery. At our review appointment, the neuro surgeon was rambling on about how you are rarely ever able to see tissue defects on an MRI only to stop herself mid-sentence as she was scrolling through the last image sequence. His spinal cord was tethered to a small piece of fatty tissue at the base of his spine. I hadn’t really heard of this happening before so the severity of it didn’t really sink in until she began to tell us what great news it was that we caught it so early. She went on to say that when a spinal cord is unable to move freely it causes nerve damage that is irreversible. If it goes untreated after the child starts to show symptoms they could end up with lasting neuro-muscular impairments. She told us that she had just operated on a 4 year old boy that week whose tether had gone undiagnosed until he went into kidney failure and his legs were so weak that he couldn’t walk. 1 week later my son had spinal surgery to correct the tether. They cut the bone of his spinal column and opened it like a treasure box before snipping the cord from the fatty tissue and then closing the bone back up again. We were told that he could never play full contact sports, but that they were unsure if there would be any lasting nerve damage. They said that only time would tell.

Within 3 weeks of surgery he started walking for the first time. Now he is almost 6 and you would never know that he had gone through any of this if it wasn’t for the scars. People can tell that his face is slightly asymmetrical, but no one comments on it. He has many surgeries to come, but for now we have a lull period where he just gets to enjoy being a normal kid.

The most valuable thing that we learned throughout this whole experience was that having the right doctor can change the outcome of any situation. Without our amazing pediatrician our son could have ended up in a wheelchair, unable to walk for the rest of his life. Without our caring and compassionate ENT we would never have found the network of doctors who are still responsible for our son’s care to this day. You are both your and your child’s best and only advocate. Do your homework. Trust your gut and find someone new if you are either uncomfortable with a doctor or do not feel like they are listening to you.

Destiny Effertz began following Twiniversity’s Facebook page in 2013. She quickly fell in love with how the page created a feeling of community while at the same time providing support to thousands of parents and soon to be parents of multiples. She began writing for the website in the spring of 2014 carrying on the tradition of providing advice and support to parents. She is a mother of 3 boys; twin 3 year olds and a 5 year old. She worked for many years as a civil litigation paralegal prior to having children. Now she spends her days formulating new pie recipes, throwing epic kid parties, planning family vacations, and planning and executing pirate adventures and trips to far away planets with her boys.

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