Frustration, anxiety mark families’ hopes for ‘bubble baby’ cure

Monica Nava and her 1-year-old daughter Clementine, who suffers from the "bubble baby" affliction. (Family photo).

The story about Jakob, Sheersha  and Clementine is a 6,000-mile biomedical tale that spans the Atlantic. The story ranges from the Saskatchewan River in Canada to the dusty Tehachapi mountains in drought-plagued Southern California. And it is a story of children with a terrible and rare genetic affliction known as the bubble baby disease.

At hospitals, the affliction is known more technically as adenosine deaminase severe combined immunodeficiency or ADA-SCID.

The central focus may well be in the Oakland, Ca., headquarters of the $12 billion California state stem cell agency.

The families of the children have other words for the disease, which cripples a baby’s immune system. It can lead to death before the age of two if left untreated.

Heartbreaking, frustrating and disheartening are some of the ways that parents describe the condition.

All of that has now come together in multimillion-dollar, closed-door negotiations dealing with ethics, cutting-edge gene therapy, stem cells and intellectual property.

The central focus may well be in the Oakland, Ca., headquarters of the $12 billion California state stem cell agency, officially known as the California Institute for Regenerative Medicine (CIRM). It has a $42 million stake in the game.

Beyond CIRM, the key players include UCLA and a publicly traded firm, Orchard Therapeutics PLC, in London and a life-saving therapy known as OTL-101. The therapy is still officially experimental. But it has saved 50 lives and was developed with the help of the tens of millions of dollars from California’s taxpayers, not to mention federal research funding. UCLA owns the OTL-101 intellectual property, which it has licensed exclusively to Orchard.

“I look to my son who is so little but so brave to endure his own condition.” — Andrea Fernandez

Added to the brew are the families of 20 children who have been denied “compassionate use” of the treatment by Orchard. Compassionate use of an experimental treatment is permitted by the federal government under limited circumstances.  The families are not happy with Orchard.

The firm, which is losing millions of dollars, last May backed away from OTL-101 in a restructuring and cost-saving plan launched after it deemed other potential products would be more profitable. Last October, Orchard also suspended — for financial reasons — the OTL-101 clinical trial that was supported by California. The company said this month that it has saved $2.5 million so far as a result.

Earlier this week, the California Stem Cell Report talked by phone with three families hoping to see their children treated with OTL-101. Here are their stories.


Andrea Fernandez and Jakob Guziak have something in common beyond being mother and child. She and two-year-old Jakob sometimes receive treatments for terrible but different diseases on the same day in hospitals in Edmonton, Canada, which straddles the Saskatchewan River.

“While I’m at the Cross Cancer in bed trying my best to fight for my life,” Fernandez wrote earlier this year, “my son is at Stollery Children’s Hospital also in the oncology area receiving his monthly IVIG (intravenous immunoglobulin) that protects him from colds and infections.

The family’s hoped-for curative treatment is the one financed in California by the state’s stem cell agency.

“While this is the most intense week I might have, and I’m feeling uncomfortable, I look to my son who is so little but so brave to endure his own condition,” Andrea said on Jakob’s “Little Fighter” Facebook page in April.

Jakob has ADA-SCID. His mother has cervical cancer, a fact she learned on the day before Christmas last year. Andrea and her husband, Kamil, live in Edmonton and have been trying to raise $1.5 million on a “gofundme” site on the Internet for many months. The money would go for a possible treatment for Jakob in Italy. As of this afternoon, the fundraising effort had drawn $61,485.

For Andrea, the question of money has a lot to do with Orchard Therapeutics and its financial decision on its OTL-101 treatment.

“Sometimes you want to believe not everything is money when it comes to life-saving options for children, but you are wrong,” Andrea wrote earlier this month on Facebook. “Everything is about money and you have to advocate hard to try to find a way for them to get the care they need.”

The family’s hoped-for curative treatment is the one financed in California by the state’s stem cell agency.

The family has sought compassionate use treatments, but says it is now in “kind of just a limbo.”

Orchard, however, has denied the “compassionate use” of the treatment for Jakob. The denial mystifies the family, who say they have been told that their son appears to be too healthy.

They wonder why Orchard might think that their son’s condition has to deteriorate before he can be treated under the compassionate use provisions provided for by the U.S. Food and Drug Administration in connection with clinical trials.

Like other SCID families, they are disturbed by the financial considerations cited by Orchard when it suspended its CIRM-financed, OTL clinical trial last fall.

“We cannot understand why a company would stop a clinical trial for anything when there are so many families out there that benefit,” Kamil said.

Monica Nava and Clementine. Photo courtesy of the family.


Monica Nava’s daughter, Clementine, just turned one-year-old last Saturday. “It still feels like a blur from when we got the diagnosis” only a few days after she was born, Monica told me earlier this week.

Monica and her husband, Terry, live in Merced, Ca, and drive three hours one-way at least once a month to the University of California, San Francisco (UCSF), for treatments.

Shortly after Clementine was born she was in the hospital at UCSF for two months because of the seriousness of her condition.

The family has sought compassionate use treatments, but says it is now in “kind of just a limbo.”  Monica said it is “very difficult” to understand why the Orchard trial was suspended.

“We understand that money is needed to run their business, but it’s really disheartening to feel like that’s probably the reason why our child” is not receiving an OTL-101 treatment, Monica said.

The uncertainty and what she described as a “lack of communication” from many of the parties have troubled the Nava family. “The biggest thing is so much uncertainty. You know that maybe tomorrow she starts to decline” if the medicines stop working.

Nava noted the restrictions of the Covid-19 pandemic have played a role in their lives. Asked what she thinks is not fully understood about ADA-SCID, Nava picked up on the restrictions that have arisen in the pandemic. She noted that while those are now easing for most people, they never ease for the bubble baby families whose constant vigilance is needed to protect their children from even minor ailments that normal children can fend off.

“People living one year through this pandemic was awful,” she said. But for the families with ADA-SCID children, ‘‘Their lives are always like that.”

Sheersha is the youngest in the Sulack family. Photo courtesy of the family


Shayla Sulack and her family were living in Hawaii when Sheersha was born. Now they live in Tehachapi, Ca., a small town 100 miles from the University of California, Los Angeles (UCLA), where Sheersha receives treatment.

Shayla’s husband  is serving with the U.S. Army, which transferred him to California as part of a compassionate reassignment.

Shayla said her daughter was scheduled for treatment last summer as part of the Orchard trial. Donald Kohn, the scientist who has worked for 35 years at UCLA to come up with the treatment, believed she was a “great candidate” for the therapy, Shayla said.

“So when the trial was supposed to start she was going to be the second child treated through Orchard,” Shayla said. “And then when I got the call that it was cancelled there was kind of like this huge letdown. We moved everything here for her, and now it’s off the table.”

The family has given up traveling and skips such things as trips to Disneyland because “it’s not safe for her.”

Shayla said her daughter appears to be healthy. But she still is undergoing an array of treatments. Shayla said, “She is thriving. She is joyful. Anybody who meets her absolutely loves her. She’s silly and hilarious.”

The family has given up traveling and skips such things as trips to Disneyland because “it’s not safe for her.” But one thing remains constant — the waiting.

Shayla and her family are still hoping for an OTL-101 treatment. She said the survival rate with the CIRM-financed treatment is 100 percent. “That’s a huge number when you look at your child….If she could get the therapy, she has a chance for a real life.”

CIRM, Orchard and UCLA are all discussing this privately. The stem cell agency has vowed to do everything it can to see that children are treated. Orchard told the California Stem Cell Report that it is prepared to “support” UCLA and CIRM “with financial and material resources…to treat ADA-SCID patients under a separate compassionate use program that would be led and administered by their institution.”

No further details have been forthcoming since that statement earlier this week.

Here is a list of some of the other stories carried this month by the California Stem Cell Report dealing with the Orchard-CIRM-UCLA-bubble baby nexus.

Editor’s Note: David Jensen is a retired newsman who has followed the affairs of the $3 billion California stem cell agency since 2005 via his blog, the California Stem Cell Report. He has published thousands of  items on California stem cell matters.

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