Rare disease with fatal diagnosis doesn’t stop this woman from living life – and helping others

Last month, Jessie Jackson’s friends and family sang her happy birthday a little early.

Jessie doesn’t turn 30 until Dec. 12, but for the past five years on the anniversary of her diagnosis, her parents have hosted a fundraiser. They weren’t taking any chances.

Jessie inherited a rare genetic condition called GM1 gangliosidosis that affects about 200 people worldwide and progressively destroys nerve cells in the brain. She uttered her last sentence in elementary school and has been in a wheelchair full-time for years.

None of that has stopped her from having as much fun as possible, most of it courtesy of her mother, Merlie, her father, David, and her devoted friends.

“I know GM1 will eventually take her life, because that’s how it is,” Merlie said in a phone call. “But we’re going to live life until then.”

Jessie, “an avid biker chick,” has checked off most things from her bucket list, except flying in an airplane and watching a Broadway show. She rode on one of her beloved Harleys, rafted down a nearby river, visited the ocean, climbed a climbing wall, played adaptive baseball, visited Disney World and rocked out with her favorite band.

A treatment being tested for Jessie’s condition will come too late for her if it works at all, but she participated in a study to help doctors understand the natural course of the disease, so they will know if they are making patients better.

Doctors have told her parents several times that Jessie wouldn’t survive the night. “Eh, watch and see,” Merlie thought.

Jessie – and Merlie – have things to do.

“She doesn’t let anything hold her back. She loves people. She loves music. She loves going. She loves being out. She loves doing what other 29-year-olds are doing. Unfortunately, she just has to drag her parents along,” Merlie said.

“None of us know the day that we’re going to go,” continued Merlie, who has more wise phrases to offer than Forrest Gump. “Jessie just has an advantage. She knew her time was limited, so she’s living life and been given that grace.”

Living life

One evening, on the spur of the moment, Merlie drove Jessie 90 minutes each way to see her favorite band. The second she wheeled Jessie through the door to the bar where they were playing, she heard a band member say from the stage, “Jessie’s here, the party starts!”

“That’s either a very proud mama moment, or a bad mama moment,” Merlie said, laughing. “Jessie was like, ‘I’m here. Let’s party.’ So she did.”

During a gig, musicians push her wheelchair on stage to the beat, while Jessie sometimes wiggles a foot. Her wheelchair has under-glow lights like a motorcycle. Her giant grin says more than the words she can’t utter.

Some of her childhood friends feel guilty about moving on with their lives, getting married, having kids – things Jessie will never do.

“We don’t have time to be pitiful or sad,” Merlie said on a midday call while Jessie, still asleep, recovered from another late night.

Merlie quoted one of Jessie’s favorite phrases from back when she was a “spitfire” 8-year-old and could still talk: “Suck it up, buttercup. I’ve got things to do.”

Jessie hosts parties in “Jessieville,” the single-story house her parents bought in North Wilkesboro, North Carolina, population about 4,000, when they realized she’d be in a wheelchair for life.

A purple mailbox – Jessie’s favorite color – greets visitors, and a giant, accessible firepit in the side yard has hosted as many as 50 motorcyclists for bike nights. “That’s when she seems to be happiest,” Merlie said, adding, “Our neighbors love us.”

Another mother wished out loud that her special needs child could have a motorcycle buddy like Jessie. “I can do that,” Merlie thought. She set up a virtual pen pal program linking motorcyclists with special needs children.

The two groups understand each other, Merlie said. People who wear leather jackets and ride Harleys are often dismissed as hoodlums. People in wheelchairs or with other needs are often ignored. Both groups know what it’s like to be judged before someone gets to know them – and that helps them bond with each other, she said.

Jessie wears a leather wheelchair harness, emblazoned with her name on the front, leading people to greet her by name even if they don’t know her.

But lots of folks know Jessie around North Wilkesboro, an hour west of Winston-Salem and 80 miles north of Charlotte.

Dad David retired as a long-haul trucker when Jessie was in eighth grade and he realized he needed to be around the house more. He spends half the year repairing golf carts in Boone, 40 miles west, where they used to live. He works as one of Jessie’s paid caregivers, along with Merlie.

A state program allows family members to get paid to take care of loved ones with disabilities. It’s not much. “The pay rate is less than someone could make at a fast-food restaurant, but it allows Merlie and sometimes David to stay home and provide Jessie the 24/7 care she needs.

Families are often told they can’t get paid for this work – forcing them to work outside the home and hire someone who isn’t as attuned to their loved one’s needs. Or they have to institutionalize their family member at far greater cost to society and often with a lesser quality of life.

Merlie said families shouldn’t listen when they’re told they can’t be paid to be care providers.

“No is not an answer. No is a challenge,” she said.

She helps other families work the system, so they can be paid caregivers, too.

When the Jacksons started their journey as special needs parents, Merlie said another mother was a huge help, coming to a school meeting to advocate for Jessie. “What do I owe you?” Merlie asked afterward.

Someday, help another parent who needs you, the woman answered. Merlie hasn’t stopped since.

Merlie pushes Jessie in 5K fundraisers, and she and David were part of a stakeholder group that helped establish guidelines for North Carolina Medicaid. They’ve raised money for abused children and volunteered for a group that helps people with disabilities.

Jessie gets in on the action, too.

Merlie often reminded her three children (Jessie’s the youngest) that the way to make themselves feel better was to help those who were worse off. So Jessie ran a stuffed animal drive on her Facebook page. The toys are destined for a motorcycle club that will hand them out to special needs kids.

She collects police department patches, which Merlie sews onto her vest and wheelchair blanket to honor the “people who protect us.”

Good days and bad

Jessie has her good days and bad. Sometimes, she doesn’t have the energy to take on the world. Those are “fuzzy pajama days,” Merlie said when she curls up next to her daughter and the two watch Disney movies together.

On the good days, the sky is literally the limit, Merlie said, remembering the time she and Jessie rode in a hot air balloon.

Then there was the dream motorcycle ride when Jessie was strapped onto a three-wheel Harley with packing straps and she led 15 motorcycles and a police escort up the highway to bike night.

“My husband was saying, ‘You have absolutely lost your mind,’” Merlie said. “But she’s loving it. She got to ride her Harley.”

Jessie doesn’t have the balance for another ride like that, but the Jacksons took the money she got from a federal stimulus bill and bought Jessie a dune buggy. Merlie drives, so Jessie can ride alongside her motorcycle pals.

“Jessie’s living life,” Merlie said.

Merlie has always taken the attitude that until there’s an effective treatment, she’s not going to sit around Googling the disease and worrying about every symptom. “That’s what the doctor’s are for. When there’s a cure, when there’s a treatment, they’ll call you,” she said. “In the meantime, we’re going to be out doing things.”

Jessie has had a few fantastic doctors during her long years of illness.

First was the pediatrician, who had a child the same age and was starting out in medicine when the Jacksons came to him with 5-year-old Jessie’s mysterious symptoms. One foot was turning inward, and she had begun stuttering.

Dr. Clint Zimmerman stayed up at night and tried to figure out what might explain her progressing problems. He would call Merlie at 3 a.m. to say, “I think it’s this,” Merlie remembered. But it never was.

When Jessie was 13, Merlie saw an article in a speech therapist’s waiting room about a new undiagnosed disease network funded by the National Institutes of Health. Maybe it would be able to figure out what was wrong with Jessie, Merlie told the doctor.

“We’re nowhere in North Carolina. That’s Washington. We really don’t stand a chance, but we’ll try,”  he said.

The Jacksons were picked.

Jessie was one of the first children to receive a new type of genetic analysis provided by the NIH. It took eight months to get back the results.

The Jacksons didn’t have the advantages of some who live near major medical centers or have the resources to travel easily. “But we had a determined doctor,” Merlie said. “He’s family.”

Disease progression

Another doctor told the Jacksons that they should try to get Jessie up earlier in the day, onto a more normal schedule. Force her to be awake, he said.

One of Jessie’s friends who races motorcycles invited her down to the track with him early one morning – she was his crew chief, he said. Her wheelchair was parked within 10 feet of his Nitro Harley, a 2,000-horsepower motorcycle so loud it shakes the nearby ground. Despite the sound, Jessie napped soundly.

A lot of people with GM1 have similarly disrupted sleep patterns, said Dr. Cynthia Tifft, a global leader in GM1 research.

Tifft has been Jessie’s doctor since the Jacksons first visited the National Institutes of Health 13 years ago. Tifft directs the undiagnosed diseases program, which gave Jessie her diagnosis.

“She has been our saving grace,” Merlie said of Tifft. “Without her, I don’t know that we would have been able to handle this.”

Tifft and others at the NIH and a handful of universities collaborate with a biotech firm, Sio Gene Therapies, to replace the damaged gene with a normal, healthy one. The teams were brought together by the National Tay-Sachs and Allied Diseases Association.

In results made public last month, the therapy normalized levels of GM1 ganglioside – the toxic substance that accumulates in the brain of patients with the condition – in both of the children who received the highest doses. It declined in four out of five children who received lower doses.

Tifft said studies take so long that she’s three or four years from knowing whether it will work, but there have been no safety concerns among the 11 children who received the treatment.

“The trajectory is going in the right direction,” she said. “That’s all I can ask for.”

Tifft led the earlier study that Jessie participated in, trying to understand the natural course of the disease. For years, doctors told parents of kids with GM1, “Go home and make your kid comfortable, there’s nothing I can do,” Tifft said. No one learned how the disease progressed.

She studied 41 young people with the disorder over 10 years to better understand what happens. “Jessie was one of the first,” Tifft said.

Jessie didn’t get chosen for the gene therapy trial, because researchers wanted children whose disease was in earlier stages.

“If we didn’t pick the children who had not progressed too far in their disease to see a clear benefit, everybody would lose,” Tifft said.

One family in the trial has three children with GM1 gangliosidosis. The dad called Merlie, asking her to thank Jessie for participating in the natural history study. “Without her, my children wouldn’t have had this shot,” the father said. “Tell Jessie she saved my children’s lives.”

Merlie said she “bawled like a baby” after that call and told Jessie, “You’ve done something the rest of us will never do.”

What more could a parent want for her child, Merlie said, than “to make a mark on the world and make the world a better place. Jessie’s done that. So how can I be sad? She makes the world a better place every day.”