By Moriah Cochran
When I had my fourth son, Gavin, I had no reason to suspect he would be anything but healthy, just like his older brothers. When he failed his newborn hearing screening twice, I didn’t think much of it. I thought it was probably fluid in his ears, no big deal.
During the first few weeks, Gavin really struggled to gain weight. On one of our frequent visits to his pediatrician, she mentioned his failed hearing screening and the need to schedule with an audiologist. I casually told her I was too busy and was sure he was fine. She quickly said, “Well, you don’t want to come back in here when he is four and not talking, and find out then there is a hearing loss.”
Yikes! I didn’t even think it was possible anything would be “wrong” with my baby and especially didn’t think of the consequences. I promptly called the audiologist and scheduled an appointment, which led to another appointment, in which we found out Gavin had a profound hearing loss. He couldn’t hear anything. I was shocked.
An Uncertain Future
Was something terribly wrong with his little body? What would this mean for his future? As the audiologist rattled off a list of resources and more referrals to an ENT, early intervention services, the state deaf school, a geneticist, an ophthalmologist, a cardiologist, and a kidney doctor, my mind began to spin. Something must be terribly wrong with my son. For several months I was in a daze, struggling to understand what my son’s future would look like, bouncing from one appointment to the next, and taking care of my four boys.
Around 2-months-old, Gavin started having skin problems. His skin seemed to be peeling all over, was very dry, and red patches started to form. Most noticeably his scalp was red. I tried not to worry, telling myself all of my babies had some episodes of dry skin and peeling as we waited patiently for an appointment with the geneticist—actually not patiently at all. I wanted the test and wanted to know what was going on immediately.
Dr. Scott, our pediatrician, mentioned there was a genetic condition that affected the skin and hearing called KID syndrome. It was an easy name to remember so I looked it up when I went home and quickly closed my computer and said, “Oh no, it can’t be that.”
Over the months, Gavin’s skin became worse. It felt like fine sandpaper, and he started getting thick skin on the bottom of his feet. His fingernails also started to look flakey. The worst part was that he became very itchy. As soon as his clothes came off, he would scratch his skin non-stop. The dermatologist said it was ichthyosis and wanted us to go see a dermatologist at the University of Utah. I had never heard of ichthyosis but was told I would become the expert on my son’s skin.
When Gavin was 8-months-old, we finally had our answer to what was going on, through genetic testing of his blood. We were told he had keratitis ichthyosis deafness syndrome, also known as KID syndrome. It is a very rare syndrome caused by a spontaneous mutation, with only 100 cases reported. Our genetic report gave us a paragraph of possible symptoms, with things like dry, red skin; thick skin on palms and soles; possible keratitis of the eyes; hearing loss; and risk of squamous cell carcinoma.
We were referred to another doctor, this time in Washington. She was a geneticist and dermatologist who had seen a couple of people with KID syndrome. I remember she told me to look to the ectodermal dysplasia group as they would have the most in common with Gavin. I had become involved with the hearing loss community and an ichthyosis group, and they were both incredibly helpful. The most beneficial part of both groups was meeting other parents and finding out we were not alone.
I was able to attend several large conferences for children with hearing loss and learned a wealth of information. I met parents, deaf/hard of hearing kids, and adults and finally had hope for my son’s future. The hearing loss would be a challenge but with the right support and dedication, he would be successful.
How KID Syndrome Affects Gavin
For the first few years, hearing loss and skin issues were the highest priority. We needed to communicate, and he needed language. His skin was very irritated and made him very uncomfortable. We went through so many products—lotions, creams, ointments, medication, soaps, etc.—trying to get his skin comfortable. The skin condition has been a battle that we never seem to win.
The hearing loss, although frightening and overwhelming at first, became manageable. We learned American sign language, and we found an abundance of resources, organizations, and services to help us. I’ve attended several conferences, in-person and virtually, learning more about hearing loss, resources, technology, and advocacy. Gavin has participated in several research studies relating to hearing loss and language acquisition. I’ve met so many parents, in-person and online. Their friendships and wisdom have become a pillar of strength on our journey.
Throughout Gavin’s life, it seems different areas of his body flare-up and take priority. First was the hearing loss, which resulted in cochlear implant surgery. Then the constant skin battle. We were always trying new things and finding little success.
When Gavin was two years old, his right eye became very painful and light-sensitive. He developed a corneal ulcer that took months to heal. He had surgery twice on his right eye, trying to remove the cloudy film that started covering his beautiful, blue eyes. It worked temporarily but the keratitis, a cloudy film, grew back.
With time, he has lost almost all vision in his right eye. We have been to multiple out-of-state doctors, looking for a cure. But there is none to be found. He struggles with episodes when his eyes become irritated and very light-sensitive. We have been through a ridiculous amount of eye drops and ointment over his life. He is now a pro at getting eye medicine put in. But, for the first few years, it was a battle. I remember at one point the doctor wanted eye drops in every hour. On our next visit, I told him I had recorded what it was like to do this. I showed him a video of Steve Irwin, wrestling a crocodile!
Finding the NFED
Around age three, I remembered the doctor’s recommendation to look into the ectodermal dysplasia group.
I found the National Foundation for Ectodermal Dysplasias (NFED) online and was overjoyed when they told me yes, KID syndrome was part of their group! As I read about ectodermal dysplasia on the NFED website, I started feeling like we belonged.
Gavin had so many of the characteristics: abnormal nails; inability to sweat; skin, eye, and ear problems; and probably his most recognizable feature, white curly hair. I was relieved because his teeth did not seem to be affected.
But Gavin’s journey keeps us on our toes. Everything else we had seemed to get ahold of. His skin was doing better thanks to medication and finding a routine that worked. He was doing excellent with his cochlear implants, talking, and thriving in school. The eyes had calmed down. So now it was time for the mouth to act up.
I am a dental hygienist. I love teeth and am always checking my kids. When Gavin started to get a loose tooth somewhat early, I was curious so I took some dental X-rays. I was upset to find a large cyst in his lower front jaw, which was causing the loose tooth. An x-ray of his full mouth revealed that he was missing 10 permanent teeth.
The cyst was removed in the hospital by an oral surgeon. Sadly, it had encapsulated one of his permanent teeth, which also had to come out. The doctor was optimistic that this was just a rare occurrence, and it was over. But that’s not how Gavin rolls.
He has continued to develop more cysts and has had four surgeries to remove them. He lost permanent teeth in the process. This has been heartbreaking to me, as my job is centered around teeth. Thankfully, through ectodermal dysplasia Facebook groups, I’ve read of others who struggle with missing teeth and know we are not alone. There are options to replace them, and for that I am grateful.
To add to the journey, Gavin started struggling with the soles of his feet around age four, when the skin became thick and cracked. This has affected his posture, gait, strength, and ability to walk for a long distance. Through more doctor appointments, and learning from others with his condition, we decided he needed a wheelchair. He was hesitant at first but now loves his wheelchair. It gives him independence, and he is not relying on me to carry him or being confined to a grocery cart.
Through the years, we have become connected to several communities which have blessed us immensely: the deaf/hard of hearing, cochlear implant users, ichthyosis, keratitis-ichthyosis-deafness, deaf-blind, ectodermal dysplasia, and most recently, wheelchair users. Each of these groups comes with amazing doctors and therapists who have helped Gavin. For me, the most valuable part of these groups are the parents! They are a wealth of hands-on knowledge. They have guided and walked with me through this rocky journey.
A Strong Little Advocate
Gavin is now 6-years-old. His path in life has been difficult, but he has an amazing spirit. He is eager to learn, funny, creative, brave, determined, and loving. He loves to draw, swim, and help his family. He enjoys school, and his reading skills are improving daily.
At the young age of six, he has become an excellent advocate for himself, which will be a valuable skill throughout his life. He asks for clarification or repetition when he struggles to hear or understand, asks for curtains to be closed or the light turned off when his eyes are sensitive, and when his feet hurt, he asks to be carried or requests his wheelchair.
Although his life is not what I imagined, it has been an amazing journey for our entire family. Our eyes have been opened to an entirely new world, a world where the body doesn’t operate like the typical person, but a world where the affected individuals and their families are fierce and strong.
The typical milestones of childhood are huge victories; the days are filled with appointments, advocating for needs, battling insurance, and nights spent in worry. The networking and comradery between parents is priceless. The hope and encouragement they give are just what I need to keep going and know that nothing is “terribly wrong” with my son. He just has a unique journey, and I am along for the ride.
Moriah Cochran is a guest blogger for the NFED. She lives in Montana with her husband and their four sons.