Meet Genie Egerton-Warburton. Just 14 months after her 4-year-old son, Rowland (“Roly”), was born, she and her husband, Jamie, started searching for answers pertaining to his health. They had many questions.
Why did Rowland have that look in his eyes? What about his eyes crossing and his droopy lids? Why did he clench his fists and not sleep at night? Why did he have a full set of teeth at just 14 months? Why was he so aggressive with his peers and yet social with adults? Wouldn’t a “normal” child be crying hysterically if he tripped on a toy while playing and ended up with 42 stitches in his chin?
There were countless consultations with top neurologists to naturopathic physicians — endless testing, various prescribed remedies for things like diet (Rowland is gluten- and dairy-free, and takes a daily concoction of supplements), and numerous operations including two eye surgeries, a tonsillectomy, and adenoid removal.
Credit: Nurse at NYU Langone. Genie, Roly and Jamie before Roly’s tonsillectomy and adenoid removal.
But the explanation, likely blurred by Rowland’s ability to understand, take commands, and overshadowed by his happy, bubbly personality (he likes to high-five the doctors), was always the same: "Rowland's Syndrome" and his own set of "global delays."
It wasn’t until Genie’s endocrinologist suggested further genetic testing (Genie had done this in utero and everything had come back normal) that the tables turned.
On August 30, 2016, Rowland was diagnosed with ADNP Syndrome (also known as Helsmoortel-Van Der Aa Syndrome), a complicated, non-hereditary, and rare neurodevelopmental disorder thought to affect just one in 27,000 children.
Here, Genie tells HealthCentral how this diagnosis transformed her from worried parent to warrior.
HealthCentral (HC): What’s the first thing you did when you got the diagnosis?
Genie: I had a primal cry. It was heart-wrenching and painful to get this diagnosis, but after years of trying to figure out what was wrong with our child, now we knew, so there was also some sense of relief.
Jamie and I weren’t going to be in denial, embarrassed, or ashamed. We weren’t going to let this define our child or affect our family. Instead, we hit the ground running.
Credit: Rachel Romo. Longhouse reserve cuddles with Roly.
HC: Where did you run to?
Genie: The first person I called was Sandra Sermone, the president of The ADNP Foundation who manages a support group on Facebook for those diagnosed with ADNP. She’s the Erin Brockovich of ADNP.
Over the course of a three-hour conversation, I learned that there were 54 other kids (we have now connected with 155) who have ADNP mutations [worldwide] and yet they all have different medical issues.
HC: What was the takeaway from that conversation?
Genie: The takeaway was, "Make sure he doesn’t have this and that," as in, "Make sure he doesn’t have a hole in his heart" and "Make sure his organs are functioning properly."
Sandra had opened a Pandora’s Box.
A friend of ours on the Board at Mount Sinai Hospital in New York highly recommended we go to their Seaver Autism Center for a comprehensive evaluation with treatment recommendations.
We contacted Dr. Illana Gozes, the professor who had discovered the ADNP mutation in Israel and she, in turn, introduced us to Dr. Lidia Gabis, from the Weinberg Child Development Center of Tel Hashomer Medical Center, who then put us in touch with Dr. Joseph Buxbaum, the director of the center.
Dr. Buxbaum introduced us to his superb medical team, who undertook the above-mentioned testing, and we were off to the races.
Credit: Jamie Egerton-Warbuton. Roly having an EKG after his diagnosis at Weill Cornell, with mom Genie, 2016.
HC: Where are you now that you have knowledge and understanding of Rowland’s condition?
Genie: Now that we’re armed with information about exact genetic abnormalities, we’re not searching for answers or fighting a losing cause anymore because the proper therapies and treatments needed are in place.
It’s our mission to spread the word about the importance of genetic testing for those "on the spectrum."
Genetic testing needs to be affordable to everyone so that all kids’ needs are being met.
Credit: Dora Reyes. The whole Egerton-Warburton family in 2015 - Avery (14), Brooke (14), Taylor (12), Rowland (2), Charlotte (5), Jamie (Dad), Genie (Mom).
HC: How are you getting the word out?
Genie: Jamie and I have joined the board of Seaver and are starting to raise $200,000 to do a comprehensive evaluation of 10 children who have ADNP.
We hope to raise up to $2 million in order to accommodate further families and do additional research.
We’re going to get to the bottom of what could help these children, we’re hoping for a cure, and are determined to make an impact on autism-related disorders.
Credit: Genie Egerton-Warbuton. Roly in his new seatbelt in case of emergency for non-verbal children, 2017.