Transplant success for teen with rare syndrome

CARLSBAD — From the time her daughter was an infant, Jeannie Townsend knew something was not right.

Her daughter, Parys (pronounced Paris), always seemed to be ill. A run-of-the-mill cold would take the now-14-year-old Calavera Hills Middle School eighth-grader four to six weeks to shake.

She’s also spent every major holiday in a hospital throughout the years, her father, Brooks Townsend, said. Parys suffered from allergic reactions, ear infections and burning fevers, but there was never an answer.

And after years of tests, a diagnosis finally came, although it was because the disease Parys suffers from was not discovered until 2008. Her doctor in San Diego diagnosed her with Dock8 Immunodeficiency Syndrome in 2013. She is just the 27th person ever diagnosed.

Dock8 is a mutated gene causing a deficiency in immune cells (white blood cells) and if not treated early, results in death before a person reaches 30. If not treated in time, the disease causes cancers and organ failures, Jeannie Townsend said.

Parys and her family were not taking the risk, so she was admitted to the National Institute of Health in Maryland on Feb. 27.

“She has a rare genetic disorder,” Jeannie Townsend said. “We decided not to wait until she is worse.” She added it was a scary, but they felt it was their best chance.

But some very encouraging news came on April 2. After Parys underwent a stem cell transplant on March 15 to rebuild her bone marrow, the cells are starting to take, Jeannie Townsend said, which increases dramatically her chances of living a full, productive life. If the cells do not take, another procedure will be needed.

Even with the good news, Jeannie Townsend said Parys is still in a delicate state. While the cells are making progress, doctors will continue to monitor her closely to ensure the new cells keep regenerating.

Speaking from her hospital room on March 28, Parys was upbeat and positive she will beat the rare disease. She and her mother will remain in Maryland until June 20 for continuous monitoring, although Parys is itching to get back to Carlsbad.

She is the gregarious type — outgoing, active, funny and noting she loves to play soccer, surf, snowboard and soak in new experiences. Parys said she also misses the family’s Great Dane, Athena.

“My body was very normal and healthy, but now it’s kind of different every day,” Parys Townsend said. “I’m always active and I don’t like to just sit around. I watch videos, doing some crafts, I do school here with a teacher and play a lot of card games and board games. I try to keep myself occupied.”

The family, though, said this is the most difficult challenge they have faced. With Parys and her mother on the East Coast, and her father and twin brother Gavyn here, it makes communication more challenging.

For Jeannie and Brooks Townsend the ordeal is gut wrenching as they watch helplessly as their daughter forges through chemotherapy and the transplant. Despite the pain they feel, Brooks Townsend said his daughter would not be undergoing treatment if not for her mother.

For years doctors could not explain Parys’ condition or wrote it off as allergies. Jeannie Townsend, though, instinctively knew it was something else. She kept pushing back, changing doctors until the fateful day in 2013 when Parys was correctly diagnosed.

But they knew waiting until she was 17 or 18 may be too late, so the family decided to pursue treatment before Parys reached high school. Since Dock8 destroys the immune system, it also kills fertility.

So, Parys underwent an IVF treatment to harvest her eggs, she said. It was her decision as she one day hopes to have her own family.

But now, Parys is focused on getting healthy and back home.

“I just kind of think of it as what happens when it ends,” she said. “I don’t really think of it as a negative. I think of the end of this process.”

As for her twin brother, Gavyn said the time apart has been tough. He said he misses the competitive rivalry between the two and having battles on their trampoline to determine who can come up with the most new tricks.

But at times, he feels her pain, literally. The bond between twins is deep and Gavyn said he has a sense of what Parys is feeling. During a doctor’s appointment, he became nauseas thinking about her pain.

Brooks Townsend added it was a sympathetic episode, where Gavyn turned milky white, was sweating and had to sit down for about 30 minutes.

“Same thing happened when she was at NIH,” he said. “I would get a bad feeling in my head and I would have to sit down for a minute.”

Despite the worry and the treatments, the Townsends are staying positive. Jeannie and Brooks Townsend said the outreach of support from friends, family and the community has been overwhelming.

Fundraising efforts are in full swing, with Parys’ soccer club the LA Galaxy donating funds, Brooks’ employer, FedEx, a GoFundMe account and a video from her friends urging donations.

Parys resisted going “public,” but has since been open to about her condition since word started to spread. Now, she and the family are also using her experience to spread awareness.

To donate to Parys’ medical fund, visit https://www.gofundme.com/parys-medical-fund.