4 Ohio siblings have rare, debilitating disorder that has no cure

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Most parents would agree raising six children is a challenge, but Melissa and Mark Jones of Cortland, Ohio have found their responsibility uniquely tough. The Joneses, who always dreamed of having a big family, have four teenagers who suffer from a rare genetic disease that has rendered them completely dependent on their parents for the rest of their lives.

The youngest of the Joneses— Andrew, 17, Christina, 16, Ryan, 15, and Ashley 13— have Angelman Syndrome, a neurogenetic disorder characterized by developmental delays, lack of speech, seizures, and walking and balance disorders.

“A lot of people ask why we had so many [kids],” Melissa, 43, told FoxNews.com. “People were telling us we’re crazy, but there were other little issues sidetracking us, and we weren’t thinking about the developmental part— we were thinking about the physical problems.” She added that by the time she had their youngest daughter, they weren’t aware that anything was wrong with any of the children.

According to the Angelman Syndrome Foundation (ASF), the disorder is often misdiagnosed as cerebral palsy or autism. The incidence of Angelman’s ranges from 1 to every 12,000 to 20,000 live births. By comparison, autism is about 1 in 68 births in the U.S., and Down syndrome occurs in an estimated 1 in 691 babies.

Mutations in the UBE3A gene, which is located on the maternal chromosome 15, causes Angelman’s. About 70 percent of cases occur when a segment of this chromosome is deleted, according to the National Institutes of Health.

Each of the Joneses’ “Angels” came close in age— Melissa wanted to finish having children by the time she turned 30— and each had other medical complications early on that weren’t related to their genetic disease. Before he was 2,  Andrew was diagnosed with a type I chiari malformation, a structural defect where the lower part of the cerebellum extends into the spinal canal. He required corrective brain surgery immediately. The malformation is no longer an issue for Andrew and he’s considered to be cured, though now he has obsessive compulsive disorder.

Christina suffers from migraines, which are unrelated to Angelman’s. She can’t talk, but her mother estimated she’s had them for about three years.

When Ryan was a baby, he had tracheomalacia (weakness and floppiness of the walls of the trachea), gastroesophageal reflux disease (GERD) and failure to thrive— at 2 months old, he only weighed 7 pounds.  He has to take daily Zantac for the GERD, and if he isn’t given it, he scratches himself because he’s in so much pain.

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While each child has epilepsy, Ashley has a gene linked to severe epilepsy. Her seizures can be triggered by anything from a cool breeze to sneezing to tripping. When she was mere weeks old, she had pneumonia and, later, multiple rounds of bronchitis. Now, she has five to six seizures a day.

Finding an answer

As her children presented with developmental delays, and doctors dismissed their symptoms as something that would improve later, Melissa grew increasingly frustrated. After doing some research, she suspected Angelman’s, but the doctors she saw dismissed that, too.

Melissa eventually turned to Dr. Mark Scher, division chief of pediatric neurology at University Hospitals Rainbow Babies and Children’s Hospital in Cleveland, who’s been caring for the family for about 15 years since.

Scher said he began caring for the family rather late, and, had he met them earlier, he would have focused on genetic testing and family planning from the get-go.

“All of them have a [certain] facial appearance, and I would’ve sent them off to test on their first visit,” Scher told FoxNews.com. He noted that Angelman’s babies present in generic symptoms— low muscle tone, failure to thrive, and not sucking well.

He added the Jones children were all very happy— and while all babies can be happy, that, combined with their neurologic profile likely signaled Angelman’s.

All of the children have epilepsy, but Ashley has it the worst. It was only when her seizures became extremely hard to deal with— Scher had to monitor her in a specially created unit at UH Rainbow Babies and Children's Hospital— did the family consent to run genetic tests.

When Ashley was 9, she underwent genetic testing for the chromosome 15 deletion and tested positive. The Joneses were relieved to hear the diagnosis.

“It was an answer as to why they’re being this way, but at the same time, we got to know and love them immensely and unconditionally,” Melissa said. “If I was told when I was pregnant, I can’t even imagine … I don’t know how I would react.”

Melissa and Mark have joined online ASF groups and met other parents, sharing their concerns, tips and tricks. So far, they’re the only family with four “Angels.”

“This is an incredible number of kids [in one family],” Scher said.

After Ashley was tested, the Joneses declined testing the other children, as they all present the same way, Melissa said— nonverbal, seizures, severe developmental delay, a gait when they walk. They also have sleep problems.

“It’s important if there’s a genetic diagnosis to test and verify it,” Scher noted, adding that it’s not just about the couple but about the future. If their non-affected daughter, Danielle, 23, wants to have children, she may pass the gene along. “There’s a generational responsibility.”

Scher said part of their reason to skip testing the other children is finances— Mark, 53, is self-employed as a dentist and the family covers their own medical care.

“We have health insurance, but that doesn’t mean help isn’t needed,” Melissa said. “Our family doesn’t qualify for any type of help.”

Taking care of their Angels

As to whether the Jones Angels missed out on early intervention when they were diagnosed later in life, Scher said the family sought the help of therapists as early as they could to improve their development trajectory as best they could.

“Would they have had a major change in their outcome in terms of better improvement?” Scher said. “Not necessarily. But they needed to have someone advocate for them. The only thing I’ve ever really done, except to be there for complications of seizures, is to get them into the right school setting.”

“[Melissa] is a great mother— an unbelievable advocate,” he said.

Part of that advocacy has been getting them into a special education classroom. When their old school couldn’t manage their needs properly, the family moved to a different district. Now, the teens attend public school in the Mathews School District in special county-sponsored classrooms for children with developmental disabilities. The Liberty School’s students are included in all activities offered to students in traditional education.

Melissa is grateful that her kids are in a supportive, nurturing environment. The county made it a point to keep the siblings together for their education.

“The teachers … they just love their job and take their jobs to heart,” she said. “I feel so blessed.”

Before the diagnosis of Angelman’s, the family had the four children in speech therapy and tried teaching sign language. Melissa spent years teaching Christina and thought she was learning it well, but then it turned out she would just babble nonsense in sign language.

The kids’ ability to communicate really changed with the arrival of iPads and iPad Touch devices, and the Proloquo2Go app, which lets them use symbols to  communicate.

“It’s been a Godsend— a true, true Godsend,” Melissa said.

Andrew and Ryan don’t babble words but grunt, said Melissa, joking that they are like cavemen at the dinner table. The girls are very verbal and can say “mama, dad, thank you” and other short words.

“If you ask Christina how she is, she’ll say ‘goo,’ and that’s all she can say, what she always says,” Melissa said.

As the oldest, Andrew was the first to try Proloquo2Go, and he was flourishing with it at school- talking, making requests, giving answers to questions.  Then, when he was home, he wouldn’t use the device.

They finally realized that Andrew had gotten by at home for so long without having to use the device— he knew how to communicate what he wanted— that he didn’t feel like he needed to use the device with his family. To get him to use the app at home, over Thanksgiving dinner, Melissa told him he had to use the device to ask for the last piece of pumpkin pie— his favorite— or another kid would take it.

“He said by grunts that he wanted it and I told him, ‘no’,” she said. “That little stinker finally said it, ‘I want pumpkin pie.’ After that, he started using it to tell me things.”

Christina doesn’t want to use the device, Melissa said, and gets frustrated when she’s asked simple yes or no questions while using the device that she can just use nods and babbling to answer.

Ryan has an iPad and is doing well with the communication device at school. He’s the least intellectual of all the kids, and may not be ready to use one at home for a few years, Melissa said.

Ashley, who wears a helmet to school, recently became more proficient at using her device to communicate. The “girly girl” of the family started using the app this year and asks to have her hair done and lip gloss put on.

“I really am so happy that they have these communication devices because they are making a world of difference,” Melissa said. “Angel kids understand you; they just can’t express themselves. With the iPad, they’re able to.”

Preparing for future challenges

There is no cure for Angelman’s, and treatment for the disorder focuses primarily on quality of life and safety, Scher said. A diagnosis doesn’t affect an individual’s lifespan, but complications can lead to death. An epileptic seizure could lead to aspiration pneumonia or a bad seizure could affect the heart. Scoliosis could affect the lungs and heart function.  As with a typical aging adult, abnormal bone density could lead to a risk for a hip fracture, inability to walk and pneumonia.

“I can’t fix this disease,” Scher said. “Like so much, we deal with with genetic disease. We have to make a right diagnosis to prognosticate. These kids, although they live into adulthood, are not going to be independent. To anticipate the sorts of problems they will have as they get older is my responsibility.”

Diet and nutrition can be an issue, as babies don’t suck well and don’t gain weight, but as they grow older, obesity can be a problem because Angelman’s patients are unable to feel satiated when their belly is full.

“What I worry about in these kids are the complex consequences of what it means to have a developmental disorder on a genetic basis,” Scher said. “Not to mention the psychiatry— they can have a very happy appearance but can be extremely anxious, have meltdowns and be extremely difficult to control.”

Children with special needs will probably stay in the public school system until they’re 21 or 22, after which they either have to find some means of employment to fit their limitations, are wards of the state, or live at home with their families, Scher said. He and his colleagues at Rainbow, along with partners at University Hospitals are researching how children with intellectual disabilities transition into adulthood.

“We’re dealing now with a generation of people who were being cared for so well that they’re living into adulthood,” Scher said. “It is really challenging, financially and emotionally, for caregivers.”

For Melissa and Mark, who have been married 24 years, managing their Angels— and supporting their typically developing children, Danielle and Matt, 19— has been about maintaining a quality of life, and working with each of their abilities and limitations.

“It’s only getting harder as they’re getting older,” said Melissa, adding that the behavior they were able to excuse when the children were younger, such as laughing at uncomfortable situations, is no longer age-appropriate in public and is made more difficult by the fact that they look physically normal.

But their Angels have brought the family much joy, the Joneses said, and through all of their trials, Melissa remains positive and determined to raise awareness for the disorder, including fundraising through CureAngelman.org

“I’ve been living with it for almost 18 years … my Angels will love you no matter what,” she said. “If you come visit, they’ll greet you like a celebrity, the best person they’ve seen all day.”