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Hempfield family has 4 kids with rare genetic disease, fights to raise funding for research
Jeff Himler | Tribune-Review
Members of the Johnson family gather at their Hempfield home on May 8, 2018. All four children are struggling with a rare genetic disorder that affects their muscular control and places them at high risk for cancer. From left are Riley, 8, mother Addison, Alivia, 8, Ayden, 11, father Ryan and Payton, 8.
Only a few hundred people worldwide share 8-year-old Alivia Johnson's rare genetic disease, but three of them live under the same roof with her.
The Hempfield girl and her siblings share ataxia-telangiectasia, or A-T, which causes progressive loss of muscle control, potential problems with the immune system and a high rate of cancer in children. Most who have the disease do not live past their early 30s.
New research, however, is bringing hope to those who have the disease.
When Alivia finished chemotherapy for lymphoma in 2016, she went from having a compromised immune system to virtually none, according to her mother, Addison Johnson.
"It's left her with various viruses and illnesses," Addison said. "She's very weak."
She's being homeschooled, and much of her nourishment of late has been through a feeding tube.
Doctors hope to rebuild Alivia's immune system though a bone marrow transplant, but she can't undergo the procedure until she shakes her infections, her mother said.
"She's on an experimental drug to help with the viruses she keeps getting," Addison said. "It looks like it's helping, so we'll see."
Children's wishes granted
Rebounding from a hospital stay over the Christmas holiday and having her weight drop to less than 30 pounds, Alivia and her family in April enjoyed a Disney cruise — courtesy of the Make-A-Wish Foundation, which has granted various favors for the four siblings.
After an initial plan to fly from Pittsburgh to Orlando, Fla., fell through, Addison was glad to board a flight at Arnold Palmer Regional Airport in Unity.
Airport staff dressed as Minnie Mouse, Alivia's favorite character, gave all the family members "mouse ears" to wear and saw them off with balloons, music and treats. The Johnsons met their Spirit Airlines pilot, got a peek inside the cockpit and received a cash gift from an anonymous donor.
Alivia was "smiling from ear to ear. She loved it," her mother said.
Alivia is one of a set of triplets. Her two sisters have had contrasting health outcomes: Payton, who suffers from cerebral palsy in addition to A-T, relies on a wheelchair to get around outside the family's home but is able to swim in the backyard pool she received through Make-A-Wish.
Riley is the most robust of the family's children. Accompanied by her father, Ryan, she ran to the finish line with no problem in the kids' mile-long version of the Pittsburgh Marathon last weekend.
Brother Ayden, 11, is progressively losing his mobility but managed to finish the course at a walk.
"Now, he's not able to keep up with his younger sister," his mother said. "He's still walking, but short distances. We had to get him fitted for a walker."
Ayden, who met NASCAR driver Jimmie Johnson through Make-A-Wish, is finding it hard to accept his growing physical limitations as he watches friends playing sports, his mother said.
Fighting for themselves, others
The Johnsons are battling A-T head-on.
Riley and Ayden are halfway through a yearlong blind study of a steroid treatment. Addison explained some children have a sample of their blood treated with a placebo each month, while others get one of two different strengths of a steroid. At the end of the study, all participants will receive the stronger dose.
Since receiving a strong intravenous steroid, Alivia has gained better control of her muscles.
"She used to be my most wobbly kid, but she stopped wobbling," Addison said.
In March, the most recent of the annual fundraisers the family has organized at the New Stanton fire hall netted more than $23,000 for A-T research.
Addison said one of the most exciting possibilities is a proposed gene therapy that would address a missing protein in the cells of children with A-T. But the trial treatment would have to be customized, at an expected cost of more than $1 million per child.
"Currently, there is no federal funding for A-T kids because they are so rare," Addison said. "All of that money that has to be raised is being done by grassroots fundraisers."
Jeff Himler is a Tribune-Review staff writer. Reach him at 724-836-6622, jhimler@tribweb.com or via Twitter @jhimler_news.
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