Later this spring, a little girl in California who essentially has no immune system will receive a lifesaving treatment for “bubble boy disease” thanks to the persistence of a dogged group of parents, a pediatrician, a veteran newsman and a few episodes of “Grey’s Anatomy.”

Five-year-old Seersha Sulack has the same rare disease portrayed in the 1976 John Travolta movie, “The Boy in the Plastic Bubble.” A germ – even a common cold – could kill her, and so she stays away from anyone outside her immediate family.

The treatment she’s been waiting for had stunning, near-perfect results in a clinical trial, but it’s been sitting on the shelf for years in the US because the pharmaceutical company that once owned the license abandoned it when it decided not to not to pursue approval from the US Food and Drug Administration.

“It’s a pretty tough situation,” said Dr. P.J. Brooks, acting director of the Division of Rare Diseases Research Innovation at the National Institute of Health’s National Center for Advancing Translational Sciences. “You have an effective therapy like (this one) and people can’t get access to it.”

Seersha is expected to get the treatment next month. She’ll become only the second child in the US in the past five years to receive it; the first child received it earlier this month.

The treatment is for a particular type of severe combined immunodeficiency called ADA-SCID that’s extremely rare – in the US, eight babies a year are born with it. Currently, 26 children in the US and Canada are on the waiting list to get the therapy, according to Dr. Donald Kohn, a UCLA scientist who has been working on the treatment for nearly 40 years.

The treatment is a type of gene therapy: Doctors will give Seersha a normal copy of the defective gene that disabled Seersha’s immune system.

Gene therapies hold great hope for all sorts of diseases, but they’re very expensive to develop, and pharmaceutical companies can’t be sure that they’ll make a profit because health insurance companies haven’t always agreed to pay the multi-million dollar price tags.

“It has not escaped our attention at FDA that there have been some clouds on the horizon in gene therapy,” Dr. Peter Marks, head of the US Food and Drug Administration’s Center for Biologics Evaluation and Research, said at a biotech conference in California in October. “We really want to try to see what we can do to move things forward.”

The gene therapy Seersha’s been waiting for was once called OTL-101, for Orchard Therapeutics Limited. Orchard launched in 2016 with OTL-101 as its “lead candidate,” but four years later, the company announced it would “reduce investment” in the therapy and prioritize treatments for more common conditions.

“A lot of us were upset and angry,” said Seersha’s mother, Shayla Sulack, noting that OTL-101 was developed with millions of dollars in state and federal government aid.

“We were always, ‘it’s going to happen, it’s going to happen,’ ” she added. Then, after Orchard decided not to pursue the therapy, “a bunch of us SCID moms were like, ‘Excuse me?’ ”

In a statement to CNN, an Orchard spokesperson wrote that “after encountering technical challenges related to the commercial-grade manufacture of this particular therapy, we made the very difficult decision to limit additional investment in [the SCID gene therapy].” The spokesperson spoke on the condition of anonymity.

A mother’s ‘oh, crap’ moment
Shayla and her husband, Stephen Sulack IV, were high school sweethearts at Tehachapi High School, about 100 miles north of Los Angeles. In 2010, when she was 18 and he was 19, they married at the Little White Wedding Chapel in Las Vegas.

Stephen was in the Army, and over the next few years, the young couple moved to various military bases. Their daughter Skylar was born in 2012 and son Stephen V in 2014.

In 2017, the family moved to Hawaii for Stephen’s new post as a Black Hawk helicopter pilot at Schofield Barracks in Oahu. Two weeks later, Seersha was born at Tripler Army Medical Center in Honolulu.

Weighing 6 pounds and 10 ounces, Seersha appeared perfectly healthy, and her parents took her on family outings, going to Dole Plantation and Waikiki Beach when she was five days old.

Strolling around the shops near the beach that day, the family went into a Tesla dealership just for fun. While sitting in a showroom car, Shayla got a phone call from a number she didn’t recognize.

It was a geneticist at Tripler. He told Shayla that a routine blood test, a prick on a newborn’s heel done in nearly every state, showed Seersha’s level of T cells – a type of white blood cell crucial to fighting off infections – was just five. Normal T cell levels for newborns are around 3,000.

This meant any infection, no matter how small, could kill Seersha. The geneticist said to bring her back to the hospital at Tripler immediately.

Shayla says her first reaction was: “Oh, crap.”

Not only had they been going everywhere with their new baby, but Seersha’s big brother and sister had been affectionately pawing all over her.

Shayla and Stephen left the Tesla dealership and made the 20-minute drive to the hospital while Shayla’s parents took the older two children home in their car.

At Tripler, doctors explained more about SCID, and a psychologist was on hand to help the Sulacks deal with the shocking news.

Only about one baby a year is born with the SCID in Hawaii, according to Sylvia Mann, genetics coordinator at the state’s department of health.

The next day, Shayla and Seersha were on a military medical transport flight to Los Angeles. Seersha was in an incubator in the front of the plane, and the other patients were kept in the back to decrease the chances they could get her sick.

An ambulance drove Shayla and Seersha to UCLA Mattel Children’s Hospital, one of 47 medical centers in the US and Canada that specialize in SCID as members of the Primary Immune Deficiency Treatment Consortium funded by the National Institutes of Health.

Once there, doctors laid out the options for saving Seersha’s life.

Options for Seersha
It turned out none of them were very good.

ADA-SCID is treated with regular injections to replace a missing enzyme that helps with immune function. They help a great deal, but they don’t give the child a full immune system, and their effectiveness can wane over time.

The UCLA doctors laid out two longer-term options. Seersha could receive a stem cell transplant, which is lifesaving and the standard treatment for SCID. Doctors would test her mother, father, brother, and sister and determine the best genetic match, and then would extract cells that specialize in forming blood cells and give them to Seersha.

Testing showed that any of her family members could donate to her, but none of them was a particularly good match. This was bad news for two reasons: One, the transplant likely wouldn’t be as effective. Two, Seersha would be more likely to suffer complications.