This is a story about one family's rare disease journey and the birth of a community.
Jill Montgomery Kiernan is the Executive Director and founder of the TBRS Community. Her daughter, Aevary, was one of the participants in The Childhood Overgrowth Study that first identified TBRS. Having gone many years without knowing what caused Aevary’s delays and challenges, learning of this breakthrough discovery changed everything. Fueled by a mother’s love and the excitement of finally having a “home” in TBRS, Jill formed The TBRS Community with the mission of supporting families affected by TBRS and furthering research into this rare disease.
Transcript
I was 27 and I was pregnant with my second child. A couple of close friends of mine were pregnant with me and it was a lot of fun. We'd compare notes and talk about how our kids were going to be great friends growing up.
Then Avery was born. And right from the moment she was born, I just had this gut feeling like something was different. She was a big, cute, floppy baby with tons of black hair. She reminded me of my baby pictures. I just had this feeling like something was different. The soles of her feet were touching, her legs were kind of turned in. The midwife said it's just because she was a really big baby. She needed some time to stretch out.
Her facial features were different. She had a wide bridge of her nose and I just asked my doctor about it. He seemed like he was upset with me for asking, because I was criticizing her appearance. And I thought she was the most beautiful thing ever, it's just I felt like something was different. I loved her already, completely and unconditionally.
My doctor really was never concerned. I worried because Avery was missing her milestones. She was having respiratory issues. My gut feeling kept growing. Things were different with this second baby. She wasn't crawling, she wasn't walking, she wasn't standing up or sitting without falling over. She wasn't able to eat anything but plain yogurt without gagging, and her head was growing really large.
Finally, at 16 months, the doctor listened. He ordered some imaging. He called me in for the results.
I remember walking and the room was really bright and white. My son was four at the time and he was running around in circles, being loud, and I was trying to listen to the doctor's words and a really serious expression.
He said, “You know, we saw evidence of hydrocephalus,” and he was sending us to the neurologist.
He looked really concerned and serious and I had never seen that before, so I felt terrified. I felt like this tree standing alone in this expansive field, like isolated.
Within a week, we were in to see a neurologist who still didn't have any answers for us. On his list of possibilities based on Avery's symptoms, there was a disease that would mean Avery would die in childhood, but he said he wasn't sure and he'd need to do more tests.
When he said that, the room was spinning. I felt like I was going to be sick. It was all I could do to get out of there. I don't remember anything else that he said.
This was all the week of Thanksgiving, so Thanksgiving Day was rough. We went to my parents' house and I kind of plastered a smile on my face and put one foot in front of the other.
I snuck off and on the bookshelf in my parents' house, there was a Merck Manual. It was all dusty from the 1980s. I remember it was 2004 so the internet was not great. I didn't know how to use it very well, so it was the Merck Manual.
I was sneaking away during Thanksgiving to try to look up hydrocephalus and hypotonia and figure out what could be going on with Avery, try to unravel the puzzle.
After Thanksgiving, we got in to see Dr. Goodrich, who was this amazing, famous neurosurgeon in New York City. He had just been on the news for separating conjoined twins. They were joined by the skull and brain. Certainly, he could help us, right, if anybody could.
He did help by letting us know Avery did not have the disease that was going to kill her in childhood, but he couldn't give us answers either. He said it's like a waiting game and watching and seeing how things unfolded and keeping a close eye on her.
So, the mystery went on. The symptoms, the misdiagnoses, the therapies all went on. And my sweet little girl, Avery, who was supposed to be playing on the playground with all my friends’ kids and going to birthday parties, instead, she was going to doctor appointments and therapy sessions and getting poked and prodded and having surgeries. Still, no answers. There had to be some overarching cause.
And when we weren't navigating her health stuff, we were navigating special education, which was she was being left out of field trips and class photos and school events. There were no birthday party invitations. It was hard.
So, we were barely keeping our heads about the water. When I was watching my friends’ kids, they were doing all the same things that I pictured Avery to do. They were her age and they were doing guitar lessons and sports and ballet. I tried to pretend it was fine and that we were just on a different journey, but it really stung.
And then we were at our like millionth doctor's appointment in New York City, getting her brace checked out for her scoliosis. She had to wear it 23 hours a day and it was causing blisters. We wrapped that up and went out in the hall and we see Ellen, our genetic counselor.
She's like, "Hey, guys, I was just about to call you. We have a diagnosis for Avery." At that point, I had almost given up, but she was like, "Can you come in tomorrow?"
And we were like, "Tomorrow? We're here right now. Tell us now. We've been waiting decades for an explanation. We want to know what's going on with our daughter."
She said she couldn't. She had to wait for the geneticist to be the one to tell us and they had to do a little more research.
We lived two hours north of New York City. There was a historic blizzard coming in that night. I knew that it was very unlikely that we were going to get to New York City the next day. So
It was 2014 now. The internet had gotten better. I couldn't sleep. Avery woke me up, as she did every night. I ended up in her bed next to her. Three in the morning and the snow is blowing around, the winds howling, blizzard is in full force and I finally found a research paper that had just been published in Nature Genetics.
It was called Mutations in the DNA Methyltransferase Gene DNMT3a Cause an Overgrowth Syndrome with Intellectual Disability. Very family‑friendly, right? The paper described 13 people that all sounded a lot like Avery, heavy horizontal eyebrows, dysmorphic facial features, increased height and intellectual disability caused by a variant in the gene.
I actually had to purchase the paper to read it. After I did, I saw the de‑identify information for Patient COS1107 and put my finger on it. It was so surreal because I was like, “That's Avery.” I knew it was her. After a decade‑long of searching, there was validation and there was an answer.
It was at that moment I realized Avery had a rare disease and she was one of 13 people in the whole world. You would think that's pretty isolating. In a way, yes, but, really, there were eight photos in that paper of eight different people who consented to have their photos included. I was looking at them and they looked like they could be Avery's siblings. And I was like, “We found our people.” It just struck me like, “This is it, finally.”
The next morning, Ellen and our geneticist called. They confirmed New York City shut down because of the blizzard and can't come in, but they confirmed what I already knew. And they also said they didn't have any more information. Nobody would. The information doesn't exist yet.
I hung up and I started emailing everybody who published that paper and Dr. Tatton‑Brown got right back to me. She was wonderful. She said she could connect me with some families.
Eventually, I got a call from a mom and a couple moms. At first it was awkward and a little anxious and then, very quickly, we became like fast friends over the course of short conversation. It was like finding a long‑lost family member because our stories were so similar with our kids, right down to little things like having chronic ingrown toenails.
Then I started the Facebook group and a website to create a space where people could find each other and come together. That's how the TBRS community started.
At first, the families were all older kids, like mine, and they were celebrating. They finally found an answer. Then a mom with an infant joined us and it was a really different moment in time for her. She was learning that her daughter was not healthy. She was not developing typically. She was having that spinning room, floor‑dropping‑out‑from‑under‑you moment. And I realized that we needed to move beyond support and education and work to find answers and treatments.
Then the TBRS community grew from there. We now have 350 diagnosed families. We've built an incredible research program together. We're mobilized. We're patient‑led and driven.
I think back to Avery's early years when I was heartbroken and so lost and scared and alone. Somehow, being the first in that group of 13 made a place for us in the world. And I felt like it was this piece of ground that we could plant our feet on, and more and more families joined us on that piece of earth. I'm no longer that lone tree, but I'm standing in this grove of strong, beautiful trees and we're standing stronger together. I'm grateful for that.
Thanks.