Lizzie’s cousin, Millie, raises funds for research

Published: Saturday, July 27, 2013 at 13:19 PM, title: Medical Mutation

Until two years ago, Elizabeth Jennings was diagnosed by her family as having “LizzieLou Syndrome.”
That’s the only way they could describe the difficulty Lizzie was having with speaking and eating. She had low muscle tone and trouble with her stomach and digestion.
It was a mystery.
Despite hundreds of MRI’s, CT scans, endoscopies and colonoscopies, doctors couldn’t give Lizzie a clear medical diagnosis, and instead clinically diagnosed her with Rett Syndrome, autism and even suggested she had cerebral palsy.
Finally, at age 13, Lizzie, of Burlington, was diagnosed with Pitt Hopkins Syndrome — a rare genetic disorder first discovered in 1978 but not genetically explained until 2007. It’s found in only about 250 children worldwide, according to Judy Jennings, Lizzie’s mom.
Now, Lizzie’s 9-year-old cousin, Millie, wants to raise awareness and money to benefit the international Pitt Hopkins Research Foundation to find a cure for it.
Lizzie, now 15, and Millie are typical cousins who play board games, tell jokes, play on swings and swim together. But those are all activities that Judy was told Lizzie wouldn’t be able to do.
When she was born, “There were no apparent disabilities or problems,” said Judy. “She was fussy a lot as an infant and spitting up, but I was assured every baby does that.”
But between 6 and 9 months old, Lizzie wasn’t sitting up or crawling. Judy said, “It was like she wanted to, but she couldn’t make her muscles do what she wanted to tell them.”
As she got older, Lizzie had a hard time eating solid foods. She started seeing speech, oral, physical and occupational therapists. Lizzie bounced back and forth between Duke University Medical Center and UNC Hospitals as the family’s insurance changed. She was tested for Angelman and Fragile X syndromes — genetic conditions causing developmental disabilities.
“When she was 18 months old, we went to the Developmental Evaluation Center in Greensboro, and they did a multi-team evaluation,” where Lizzie was clinically diagnosed with Rett Syndrome, said Judy. “It’s a neurological disorder and it’s under the autism spectrum.”
The clinical diagnosis meant
doctors based the diagnosis on her symptoms, but didn’t have the genetic testing proof, Judy said.
When Lizzie was 3, Judy took her to be evaluated at the University of North Carolina TEACCH Autism Program, where she was clinically diagnosed with autism. As a special education teacher for 20 years with experience with severely autistic children, Judy said she didn’t see the symptoms of autism in her daughter.
Judy said unlike most children with autism, Lizzie is socially engaged, handles transitions pretty well, and doesn’t display echolalia — a speech pattern of immediately and involuntarily repeating heard words, common in autistic children.
Judy attended a lecture series at the UNC Center for Literacy and Disability Studies, where she learned about adaptive communications and assistive technology and brought home an adaptive keyboard. Today, Lizzie still uses a communicator with pre-set buttons with corresponding words, phrases, questions and even jokes to talk with her friends and family.
About six years ago, Judy took Lizzie to the Blue Bird Circle Rett Center at the Texas Children’s Hospital for a medical diagnosis of Rett syndrome. Doctors there said Lizzie absolutely did not have Rett syndrome. That’s when the family came up with “LizzieLou syndrome.”
Two years ago, Dr. Vandana Shashi, specializing in pediatric medical genetics at Duke, invited the Jennings family to participate in a study that broke down Lizzie’s and her parents’ genetic codes.
“On the 18th chromosome she had a mutation at the TCF4. And that mutation is a mutation that (had) never been seen in the medical journals,” said Judy. Lizzie was finally given a medical diagnosis of Pitt Hopkins Syndrome (PTHS).
“They had a picture of her chromosome … in the New England Journal of Medicine,” Judy said.
Kelly Schoch, genetic counselor at Duke University Medical Center, said developmental delay and intellectual disability is seen in almost all children with PTHS. Wide-set mouths, deep-set eyes and wide nostrils are common, as are severe constipation or reflux issues.
“About half of them will have seizures,” and between 55 to 60 percent of kids with PTHS will have hyperventilation episodes or will hold their breath, Schoch said. “It’s a big clue to finding the underlying diagnosis.” Lizzie didn’t display that particular symptom, which Schoch said shows the wide spectrum of PTHS.
Judy didn’t know of any other children with PTHS, and given its rarity, turned to the Internet. She found the International Pitt Hopkins Syndrome Support Group on Google Groups, established in part by the Pauca family in Winston-Salem. Theresa and Paul Pauca’s son, Victor, was diagnosed with PTHS in 2008 when he was a little more than 2 years old. Theresa, vice president of the organization, said the National Organization for Rare Disorders put them in touch with other Pitt Hopkins families and, “We found a family in the Netherlands that is British.”
Sue Routledge’s son, Christopher, has the disorder, and Sue and Theresa decided to start the international support group online. In 2010, the Pauca’s started the Pitt Hopkins Syndrome Fund through The Winston-Salem Foundation.
“Two years later, we started the paperwork to become our own nonprofit,” Theresa said. “We have about 300 families in our support group around the world. It’s very rare, but it’s underdiagnosed.”
Last year, the Lapidus family in Los Angeles helped turn the support group into a research fund, after their son was diagnosed with PTHS.
“They started major fundraising,” Theresa said. “In one year they raised $300,000,” which jump-started the current Pitt Hopkins Research Foundation’s research funding.
The foundation supports studies at the University of Alabama at Birmingham using mice models to research the efficacy of drugs and studies at Harvard University looking at stem cells grown from fibroblast skin cells of kids with PTHS, and how they react to medications at the cellular level. The foundation also supports studies at the Chromosome 18 Clinical Research Center at the University of Texas at San Antonio.
“Altogether, we’ve raised $487,000,” Theresa said.
Millie wants to help the foundation raise even more money, on behalf of her cousin.
“I mean, I love her,” Millie said. “I’d been wanting to do a lemonade stand for a while. I didn’t want to keep the money. I wanted to donate it a worthy cause. And so I thought about Elizabeth.”
Millie and her neighborhood friends raised $25 selling lemonade and cupcakes, and Millie’s mom thought of a way family and friends who couldn’t make it to the lemonade stand could contribute — an online fundraising website called GoFundMe.
“We’ve already raised, like, $1,420, and our goal is $2,000,” said Millie. “And then we’re going to make it higher every time we get to our goal.”
Millie, Amy and Judy Jennings said even if people can’t donate a lot of money to the cause, they’ll be able to learn about the rare syndrome by going to the “Millie Loves Lizzy” site on GoFundMe, and help spread awareness, in time for the first annual Pitt Hopkins Syndrome Awareness Day on  Sept. 18.
To donate through Millie, visit www.GoFundMe.com/3g0sgk. To learn more about the Pitt Hopkins Research Foundation, check outwww.PittHopkins.org

http://www.thetimesnews.com/news/top-news/medical-mutation-1.178676