Pitt Hopkins syndrome is rare but local families fight to raise awareness
By Diana Sholley, Inland Valley Daily Bulletin
Everything continued to be fine at Stacy’s six-month checkup, but two weeks later the Stabile family’s world would change forever.
“A friend of mine was over and she said that Stacy looked kind of floppy,” Michelle remembered. “At a year she wasn’t walking or crawling or talking.”
And that began Stacy’s life of doctor appointments, hospital stays and physical therapy — but no diagnosis.
Stacy’s delayed development qualified her for physical and occupational therapy at Pomona’s Casa Colina and San Bernardino’s Inland Regional Center. Michelle faithfully brought her daughter to every appointment.
“When she was 3, they gave her the diagnosis of cerebral palsy, but that’s really a catchall when they can’t find anything else,” Michelle said.
Doctors were always testing Stacy without conclusion and Michelle had to fight the urge to blame herself.
“I kept wondering, ‘Was it something I did? Was it that Coke I drank? Was it because my water didn’t break?’ ” said Michelle, tearing up.
Stacy was about 8 when she started holding her breath and had bouts of hyperventilation.
“Then they started testing her for heart problems, but nothing,” Michelle said.
It was almost two years later, while in the office of Loma Linda University Medical Center’s pediatric neurologist Dr. David Michelson, that Stacy had her episode.
Her latest symptoms finally nudged testing in the right direction.
“We knew Stacy had a syndrome, but narrowing it down to which one takes time,” said Michelson, who serves as medical director for the Muscular Dystrophy Clinic and the Complex Epilepsy Team Center Program at Loma Linda University Children’s Hospital. “I was able to input all of Stacy’s symptoms in a specific database and finally came up with Pitt Hopkins.”
Through a blood test, Stacy’s diagnosis of Pitt Hopkins was confirmed.
“I knew it before I even got the call,” Michelle said. “I had gone home and researched Pitt Hopkins on the Internet and it fit Stacy perfectly.”
Symptoms of Pitt Hopkins include:
• Physical characteristics such as a small head circumference with a receding forehead comparative to the cheeks and jaw, a broad nose base with the tip full and the wing of the nose often flared a bit.
• Most children grow slowly and remain short compared to their parents.
• Low muscle tone (hypotonia) causing feeding issues in infants and slow motor development.
• Children learn to walk at a later age and have a stiff gait.
• Unusual breathing patterns that show up usually between 5 and 10 years old; during hyperventilation, the child swallows a lot more air, which causes a distended belly.
• Constipation and possible epilepsy.
• Constant moving, with many children flapping their hands when excited.
• Most children will not have any speech, although this varies with each child.
“Stacy can say ‘hi’ and ‘mommy,’ ” Michelle said. “She still wakes up every night. I still use a baby monitor.”
Pitt Hopkins, first described in 1978, has only a few hundred diagnosed cases worldwide, Michelson said. Stacy is his first diagnosed case, but he is sure there are many others who remain undiagnosed.
With such a rare disease, Michelson laments about the absence of clinical trials, which would lead to treatments and possible pharmaceuticals.
“There just aren’t enough diagnosed cases,” he said. “The benefits of a diagnosis is peace of mind. You see what you need to watch out for and there’s a long list of genetic complications that you no longer have to worry about.”
However, that’s not good enough for those dealing with Pitt Hopkins, such as Audrey Lapidus, president of the board of directors for the nonprofit Pitt Hopkins Research Foundation.
Lapidus and her husband Eric, an executive consultant on the CBS sitcom “Two and a Half Men,” are the parents of Calvin, 3, who at 13 months was diagnosed with Pitt Hopkins syndrome at UCLA Medical Center.
The foundation, led by Lapidus and other dedicated volunteers, has steered this rare syndrome into the consciousness of medical professionals.
“In the last two years, research is moving at a rapid pace. It has started, all over the world, catching up with other rare diseases,” said Lapidus, who also has a 7-year-old daughter. “It’s happening at the University of Alabama at Birmingham, Harvard, MIT, USC and Mount Sinai.”
Currently, Lapidus explained, there is no government funding and no administrative costs for the foundation.
“All money raised has been from bake sales, T-shirts, social media campaigns, corporate donation — all private funding, and every dollar goes for research,” she said.
Because of the rarity, Lapidus encourages self-awareness, research and joining the foundation’s support group in order to be the best advocate possible for a loved one with Pitt Hopkins.
“Parents have to become educated,” she said. “This is an opportunity to help doctors learn about Pitt Hopkins, help others get the right diagnosis and work for the best treatment options.”
• To donate money to Stacy Stabile’s team for the Million Dollar Bike Ride for Orphan Disease Research Fund, go to http://givingpages.upenn.edu/teamStacy
