Battery Park City Parents Struggle with Daughter's Rare Disease
You’ve probably never heard of Rett syndrome. Neither had Peter Curry and Heather Daly until they discovered the reason their happy, healthy Maisy, now 6, had begun to fall behind other children as she approached her first birthday.
It would take a year of genetic testing before the couple, who live in the southern end of Battery Park City, got the devastating diagnosis.
Even then, when Maisy was 20 months, the disease was only beginning to take its toll. Though she had never learned to walk, Maisy could speak about a dozen words, and she had yet to suffer the frequent seizures and other severe symptoms of Rett that she would soon endure.
“After her second birthday she took a dramatic turn,” Heather says.
The rare neurological disease, which strikes an estimated one in 10,000 births and afflicts only girls, often reverses the child’s motor skills. Identified less than 30 years ago, Rett syndrome is caused when the body can’t make functioning proteins needed to build the neurons that control motor skills. The neural pathways for sending messages to the rest of the body just aren’t there.
Information is taken in normally, researchers say, but it can’t come out.
Maisy cannot walk or talk or use her hands. Even the crawling ability she had as a baby is gone. Drinking became so difficult that in the summer of 2010 she was hospitalized with dehydration. Fearing a recurrence, Peter and Heather, both 36, made the difficult decision this summer to subject their tiny daughter to the risks of surgery and have a tube implanted in her stomach. Now, Maisy gets a regimen of medications, fluids and nutrition supplements through it. Especially important are two seizure medications, which limit the number and severity of the attacks she has almost daily.
Without warning, Maisy goes stiff and her eyes roll up. Usually, the seizures are short, but not always.
“You okay? Come on. You okay?” Peter says repeatedly to Maisy, more as a wish than a question as a seizure strikes her at breakfast. Peter holds the child’s head, hands pressed against her blond curls, as he and Heather wait anxiously for the attack to pass.
“Okay, all over now,” he says, finally, when it does.
Peter, a molecular biologist and former researcher at Rockefeller University, is well suited to handle the tubes, syringes, medicines, and the maintenance of Maisy’s feeding tube site.
Heather is glad of it. “When they told me, ‘Oh, no problem, you can just attach this tube and fill her up with medicine,’ I thought, ‘You have the wrong person. I’m terrified.’”
“I’ve gotten better,” she added, “but it still makes me nervous.”
Heather calls Maisy “Daddy’s girl.” “That’s why Finn is Mama’s boy,” she says, grinning at the couple’s perky one-year-old, seated opposite Maisy at the dining table. “Daddy spent a lot of time with big sister.”
Indeed, Peter stopped working to be with Maisy full-time after her symptoms became severe. (Last year, when Maisy started school, he took a new job in Tarrytown, N.Y.) Heather gave up her practice at a big Midtown law firm and now works for the federal government from her office at home.
“I had wanted to be the mom who did it all,” Heather sighed.
There are an estimated 300 children and teens with Rett syndrome in the metropolitan area and many are the patients of Dr. Aleksandra (Sasha) Djukic, founder and director of Tri-State Rett Syndrome Center at Montefiore Medical Center.
Djukic’s boundless advocacy and support for Rett syndrome families gives parents like Maisy’s hope. Insisting that “silence must not be misunderstood as lack of understanding,” Djukic says it is the eyes—unaffected by the disease—that hold the key to the ability to communicate.
One of the diagnostic criteria of the disease is the penetrating eye gaze,” she says. “They have strong eye gaze. That is their way of communicating.”
An eye-gaze device, about the size of a laptop computer, is the brightest hope for Rett sufferers to “speak,” Djukic says. The device scans the retina and allows the eyes to control it rather than a mouse or a keyboard. The device can also generate speech from the command.
“After a year of seeing 200 girls we have scientific proof that two-thirds can easily, effectively utilize them,” Djukic says.
Peter and Heather say Maisy has performed well on the $16,000 machine but she’s had limited opportunity to use one. Just last month, the
Department of Education agreed to furnish her special education classroom, in P.S. 33 in Chelsea, with the machine.
“We hope to advance to the point where she can use words and not use the symbol for the word. You start with the picture and the word and eventually take away the picture,” Peter says. “But that’s a higher level of training.”
Peter and Heather long for that day, when she can read and say what’s on her mind. “We do have a memory of Maisy talking to us,” says Heather, “so we’re always trying to get that back.”
“We know she’s in there and can’t get it out,” Peter adds, softy. “And that’s tough.”
Tough, too, is looking ahead long term. Rett has been reversed in mice, a promising advance, but a cure may be far off. “It’s very hard to picturenMaisy being older and how we’re going to deal with that,” says Heather. “And what we’re going to do if there’s a time when we can’t take care of her. I think that’s something we try not to think about.”
For now, Heather and Peter discover Maisy’s choices by putting “yes" and “no” cards in front of her. With difficulty at times, but often with certainty, she gives her answer.
One evening recently, Heather presented Maisy with a question as she sat up in bed. “Maisy, can Finn come up? Can Finn come up for a book?”
Heather puts the cards in front of Maisy. At first, she seems uninterested.
“Can you touch it?” her mother asks, trying to coax a response. “Are you thinking about it?”
Suddenly, Maisy slaps a card, declaring her answer. “Maisy’s the boss,” Heather beams, and she says, “No way, José.”
Like most children, Maisy’s bedtime routine includes a bath and book—but with plenty in between. Peter attaches Maisy to oxygen. He cleans the gastrictube site on her stomach, hooks up the tube and pushes her medicines through it. (Overnight, Maisy also gets formula through the tube.)
“It must feel weird to go straight into your tummy this way, right?” Peter says to Maisy as he pushes on a syringe. “But it’s easier than drinking, right Maise?”
Peter hooks a monitor to Maisy’s toe. It will measure her heart rate and the oxygen saturation in her blood. (With Rett, the brain can even forget to tell the body to breathe.)
As Maisy drifts off to sleep, an alarm sounds. Her oxygen level is low. “You can see her lips and around her eyes are purple,” her dad says calmly.
He turns up the oxygen and watches the numbers on a bedside monitor slowly rise. “Yeah, now we’re getting pink. Now you’re bouncing up,” he says to Maisy, who already is asleep.
And though she is sleeping, Peter leans over the bed and reads “Goodnight Moon,” as he does each night. “…Good night stars, good night air, and good night noises everywhere.”
At that, he closes the book and kisses his little girl lightly on the cheek.
“Good night, Maisy,” he whispers.
For more information on Rett syndrome, go to rettsyndrome.org.
By Carl Glassman