Family Copes With a Rare Disease

Imagine going to see your doctor only to be told that he or she cannot say what is going on with your body because there’s no name for it. Or, if your disorder can be diagnosed, they tell you that there is no cure or treatment available. No medical professional can predict what your future looks like because they don’t know. 

Imagine what it would be like to live without answers to your most basic questions. That is the harsh reality not only for many patients with rare diseases, but especially for their families.

Yesterday was Rare Disease Day, an international awareness-raising campaign to help those coping with a rare disease or disorder, defined as rare in the United States when it affects fewer than 200,000 Americans at any given time.

Rowland Egerton-Warburton, who is 5, lives in Water Mill. At one time, his parents, Genie and Jamie Egerton-Warburton, were told he suffered only “global developmental delays.” At other times, he was placed on the autism spectrum. And yet another time, in an attempt to stay positive, a doctor half-jokingly said that he must have the “Rowland syndrome,” since, despite a battery of genetic tests, they were unable to come up with a label.

It wasn’t until 2016 that Rowland was diagnosed with ADNP syndrome, also known as Helsmoortel-VanDerAa syndrome. At present there are 59 diagnosed cases of ADNP in the U.S. and 146 worldwide. This extremely rare neurodevelopmental disorder is caused by a mutation in the activity-dependent neuroprotective protein gene that regulates brain formation, development, and function. In addition, the ADNP gene can cause problems with the cardiovascular, endocrine, immune, musculoskeletal, and gastrointestinal systems, vision, hearing, growth, feeding, and sleep. It can also cause mild to severe delays in intelligence, speech, and gross motor, fine motor, and oral motor planning. In a substantial proportion of cases, it causes behavior disorders related to autism.

ADNP became official in the U.S. in 2014, when Sandra Sermone’s son, Tony, became the first person in the country to be diagnosed with it and only the 11th worldwide. Today, Ms. Sermone, who lives in Washington State, is the founder and president of the ADNP Kids Research Foundation, the goal of which is to advance awareness of the syndrome and accelerate its treatment. Ms. Egerton-Warburton, Rowland’s mother, is the foundation’s vice president.

Rowland is mostly nonverbal, although recently he has started to mimic sounds such as “mmm” as a way to ask for more. But his lack of vocabulary is made up for by giggling and chirping his way through the day, despite the fact that his days are filled by a tag team of specialists who arrive between 7 a.m. and 5:30 p.m. each weekday. 

“Rowland, where’s your shirt?” asked Lisa Macaluso, a licensed applied-behavior analyst who is known as “the autism whisperer” among parents of autistic children on the East End. As recommended by Alexander Kolevzon, M.D., of the Seaver Autism Center, part of the Icahn School of Medicine at Mount Sinai Hospital in Manhattan, Ms. Macaluso spends 40 hours a week at the family’s home in Water Mill, utilizing specialized applied behavior analysis, or ABA, techniques, which incorporate a system of rewards to teach children new skills. For Rowland, as for any child, learning life skills such as dressing himself will help him become more independent in the future.

Ms. Macaluso had placed a shirt and a pair of pants on the floor in Roland’s room. “Can you get your shirt, Rowlie?” she asked again. Rowland stood for a moment in front of the clothing before picking up the shirt and squealing with delight.

“Good listening, Rowland!” Ms. Macaluso exclaimed before giving him a kiss.

“I never use punishment as a way of teaching,” explained the therapist, who has a master’s degree from Columbia University. “I give him a kiss as a reward. Or a piece of pretzel, or a toy that he’s particularly fond of.”

And so the boy’s day continues. Ms. Macaluso is replaced by an ABA-instructor she is training. Then comes Nick Marchand, a physical therapist Rowland is delighted to see. “It’s more play than work with me,” Mr. Marchand said as his chirping patient bounced on a large exercise ball.

After a two-hour nap following lunch, it’s off to North Haven for occupational and speech therapy. On some days, Rowland is accompanied by his babysitter, Dora Reyes, who has been with the family for 16 years. Often, his 7-year-old sister, Charlotte, tags along to his sessions after her school day is done. 

The Egerton-Warburton family is a “blended family,” as Ms. Egerton-Warburton calls it. There are 16-year-old twins from Mr. Egerton-Warburton’s first marriage, a 14-year-old son from Ms. Egerton-Warburton’s previous marriage, and biological siblings, Rowland and Charlotte. 

While the three older siblings attend boarding schools, Charlotte is left to learn, often the hard way, that the household revolves around her little brother’s schedules, needs, and wants. 

“We have to monitor Rowlie’s every waking minute,” his mother said. “Including how many people can be in the kitchen while he’s eating so he doesn’t get overly stimulated.” Charlotte has to work with Ms. Macaluso, the ABA-specialist, to learn how to deal with him when he tries to get her attention.

“He usually pulls my hair when he wants my attention,” Charlotte said, “but I still play with him.” Recently, she visited the Seaver Autism Center, where she donated five vials of blood toward stem cell research, which the research center hopes will lead to a cure for ADNP one day.

Ms. Egerton-Warburton and her husband continue to push for increased awareness and research to help more doctors identify the disorder, find innovative treatments, and to help families living with ADNP receive the right treatment. The husband and wife team have opened an “ADNP hub” at the Seaver Autism Center to help facilitate future clinical research on the syndrome. Their goal is to raise $200,000 by October to cover the cost of extensive evaluations to be performed on 10 children and families. To date, they have raised $60,000 but aim to raise $2 million in the future so that 20 families can participate in the study.

With that in mind, Mr. Egerton-Warburton will take a yearlong sabbatical from his job in finance and embark upon “a massive fund-raising and awareness campaign,” the details of which he’s not yet ready to disclose except that it will involve his traversing the country from coast to coast.

Ms. Egerton-Warburton’s tireless quest to find the best services led her to Sidney Baker, M.D., who practices on North Haven and specializes in autism spectrum disorders. “Actually, in autistic children,” he corrected himself. 

He has agreed to work with Rowland, who is his first ADNP patient. “I agreed not only because he’s cute,” he said, “but I feel especially obliged to help people nearby who have children with complex chronic illnesses.” He said he would work to determine Rowland’s strengths, which are often overlooked when a scary label has been applied. 

It seems to be the common goal for most parents of children with a rare disease: that everyone can see that behind the symptoms, lab tests, biochemistry, immunology, toxicology, and genetic data is a human being. And by showing doctors not only what they are treating, but who they are treating, then perhaps they can be better health care providers. And until society no longer sees children who look or act different as being in crisis, but as children having a life, will they begin to see the person beyond the diagnosis.