Harper's Hope: Webb continues to navigate rare disease diagnosis after 10 years

Mar. 7—Ten-year-old Harper Webb, a fourth-grader at Highland Elementary School, was diagnosed with Angelman Syndrome at 11 months old, and despite the diagnosis, she is a bright and kind-hearted child.

Angelman Syndrome is a rare disease that causes delayed development, problems with speech and balance, intellectual disability and sometimes seizures, according to Mayo Clinic. There are less than 200,000 cases of the disorder in the United States per year.

Harper Webb's mother, Johnna Webb, said there are three common variations of Angelman Syndrome — deletion, mutation, uniparental disomy (UPD) and imprinting.

"The most common is deletion, and that's what Harper has," Johnna Webb said. "It's a deletion of the 15th chromosome, which comes from the mother. A deletion of the 15th chromosome on the paternal side would be Prader-Willi Syndrome."

The deletion variation of Angelman affects 65% to 75% of those who have the disorder, according to FAST, an organization dedicated to finding a a cure for the disorder.

Johnna Webb said she knew something was different with Harper Webb at six-weeks-old.

"We didn't get the diagnosis until she was 11-months-old," she said. "We went to a doctor because she wasn't coordinated to feed, she would stay awake for hours."

A common symptom of Angelman Syndrome is staying awake for long periods of time, Johnna Webb said. The longest time spent awake for the Webbs has been 36 hours.

"That is one of the biggest hurdles, I would say," Johnna Webb said. "The top three hurdles of Angelman are sleep, communication and seizures."

Harper Webb does experience seizures, Johnna Webb said, but they are well-controlled and she feels it is important to raise awareness for others who experience them as well.

"Many kids with Angelman have seizures and can be a real hurdle for families," she said.

Johnna Webb said Angelman Syndrome does not impact a person's life expectancy like other rare disorders might.

"They live a normal life expectancy," she said. "There are clinical trials currently that a lot of people are recognizing because it's one gene that is trying to be awakened."

Shortly after Harper Webb was diagnosed, her parents began the nonprofit, Harper's Hope, to spread awareness about the disorder.

"We moved here seven years ago from Louisa and we had a golf tournament there," Johnna Webb said. "When we moved here, we didn't know anyone so just two years ago we started the one in Owensboro."

Johnna Webb and her husband, Derrick, hold the two golf tournaments annually — one in Louisa and one in Owensboro — to raise money for finding a cure for Angelman Syndrome.

"There are so many bright and promising gene therapies and ASOs (Antisense Oligonucleotide)," Johnna Webb said.

To date, Harper's Hope has raised close to $200,000.

Angelman Syndrome is becoming more well-known across the world, Johnna Webb said.

"Most kids are diagnosed with cerebral palsy at first," she said. "It's a big deal to get genetic testing done."

Once Harper Webb had been diagnosed, Johnna Webb said it was a relief, in a way, but then she and her husband had to figure out what to do next.

"Harper is a joy. She will light up a room and change the tone of everyone," Johnna Webb said. "She inspires us each day by her courage, strength and abilities. She makes all of us a better person. We celebrate all milestones and know she will have many more to come."

The next Owensboro Harper's Hope golf tournament is set for Aug. 5 at Ben Hawes Golf Course. For more information, contact Johnna Webb at 606-571-6205 or follow the nonprofit on Facebook at facebook.com/harpershope.