A rare disease that has cut off children from the outside world now potentially has a cure.
A clinical trial to treat severe combined immunodeficiency disorder (SCID), commonly referred to as “bubble boy disease,” has amazed many in the medical community.
Eliana Nachem is a little girl with big dreams.
“I would like to be an artist,” she said. “I don’t exactly know what job I might do to make money, I mean, unless somehow I become famous as an artist.”
That day, the 12-year-old was indoors because she wanted to be, not because she had to.
The first year of her life was spent in the confines of a sterile environment where doors and windows had to stay shut and visitors had to stay out — all to save her life.
Eliana was diagnosed with SCID at 4 months old. Babies born with SCID don’t develop the cells required for a functioning immune system, and therefore, every germ could potentially be deadly.
Eliana’s form of the disease, ADA-SCID, is ultra-rare, with fewer than 10 cases a year.
“We had to get rid of our cat and dog. We couldn’t have any plants in the house. We couldn’t have any fresh fruits or vegetables. I mean, we really had to make our apartment as sterilized as possible a place for her to live,” said Caroline Nachem, Eliana’s mom. “[…] I had to create a bubble, yes. So instead of actually putting her in a physical bubble, we just lived in a bigger bubble.”
Left untreated, life expectancy could be just two years. Babies are now screened at birth for SCID, so before a parent ever leaves the hospital, they’ll know.
“In my head, I immediately thought that I should really expect the worst but, then I felt I really needed to dig into the information available and find the best course of treatment,” said Jeff Nachem, Eliana’s dad.
And that’s when the family from Fredericksburg, Virginia, heard about a clinical trial more than 2,000 miles away, in Los Angeles, that could potentially give Eliana a chance to enjoy a life outside.
“He told us she could do gene therapy, she could have a bone marrow transplant, and if it’s successful, they can live potentially, like, a normal life,” her mom said. “And that’s all I heard and that’s what I cared about.”
Dr. Donald Kohn with UCLA’s Broad Stem Cell Research Center led the clinical trial.
“They’ve basically gone from being a very fragile baby in danger of dying from infections to being healthy, vigorous kids,” Kohn said. “So it’s really gratifying to be able to do that.”
The treatment is still considered experimental, with doctors collecting stem cells from the patient’s own bone marrow. In the lab, the stem cells are isolated and a normal ADA gene is added. The cells are returned to the body after a round of chemotherapy and start getting to work building a brand-new immune system over the next year.
Some doctors are calling it a cure.
Of the 62 patients who took part over a five-year span, all are alive, and 59 of them have a completely restored immune function — a 95% success rate.
“They’re living out in the world. They’re going to school. They’re doing all the normal childhood things without getting unusual infections,” Kohn said.
But the process is anything but easy.
Eliana experienced life-and-death setbacks with the treatment and was in and out of the hospital.
Then, one day, her family got the call that would open up their world again.
“So, when she was a year-and-a-half old, Dr. Kohn told us that she can go out and she can eat food that is normal, and I’m allowed to kiss her now and things like that,” her mom said.
Caroline Nachem previously could not kiss her own child because of the risk of infection.
“And I still do not,” she said. “I still do not because I have lingering – it’s stuck with me.”
Doctors say the mental toll of such a fragile life may prove as challenging to cure as the disease itself.
“One of the things we see in a lot of the parents is it’s hard to completely drop your guard,” Kohn said. “Even 12, 13 years later, you still remember how fragile your baby was and that you were the only thing that stood between them and a world full of germs.”
As for what’s next, UCLA has licensed the therapy to a biotech company to collect more data. Once that’s done, they’ll seek FDA approval and hope that it could be available to the public in two to three years.
The gene therapy has been so successful in the clinical trial, doctors hope that one day this becomes the standard of care and gene therapies like this one could open the door to treatment for other rare diseases.
For Eliana, it’s now a world full of possibility and a far cry from her past life. She’s in public school and has a younger brother, Zev. The family has a dog now too.
“I think it’s interesting to hear my own backstory,” she said. “Some of it’s a little scary to hear. I didn’t know it was that emotional and scary for them.”
Her future though is now in her own hands and as bright as a rainbow she drew.
Get the D.C. area’s top news and weather delivered to your inbox every morning. Sign up for First & 4Most, our free newsletter.
Want more insights? Join Working Title - our career elevating newsletter and get the future of work delivered weekly.
