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ST. LOUIS — Martin Mwita sat on the crumpled exam table paper covered in stars and moons, his hair gone and skin patchy. His mom, Jacinta Mwita, stood by his side.

ÁñÁ«ÊÓƵ were about to learn what kind of blood cells were pumping through Martin’s veins.

“It’s almost like you need a drumroll,� said , a Washington University hematologist and oncologist at St. Louis Children’s Hospital.

Shenoy’s news: 85% of Martin’s red blood cells were normal. His sickled cells were disappearing.

Jacinta, 51, threw up her hands.

“No way,� she cried. “No way!�

Shenoy went on, telling them how Martin’s new cells are still growing, how the hope is that the level will soon reach 100%.

“You’re definitely making the good hemoglobin on your own,� Shenoy said.

Martin, 20, was the first patient in St. Louis and among the first across the country to receive a new gene therapy for sickle cell disease.

The monthslong therapy involves extracting a patient’s own stem cells (which produce red blood cells), genetically modifying them in a lab and transplanting them back to the patient.

In sickle cell disease, a mutation in hemoglobin genes results in crescent-shaped red blood cells instead of round ones. The sickled cells get stuck together, bringing on episodes of severe pain. The clumps can damage organs and cause strokes. Patients tend to die in their mid-40s.

An estimated 100,000 people in the United States have sickle cell. Most are Black. People are born with the disease when they inherit the mutated gene from each parent.

For many patients, the new therapy is their only hope of living a normal life.

Gene therapy to treat sickle cell disease was approved for patients ages 12 and older at the end of 2023. Two therapies hit the market — , made by Bluebird Bio, and made by Vertex Pharmaceuticals.

The first commercial patient in the U.S. at Washington, D.C.-based Children’s National Hospital. With the therapy costing up to $3.1 million, getting insurance approval takes weeks.

A have announced they’ve begun treating patients. St. Louis Children’s Hospital appears to be the first in the region. Martin and his mom traveled to St. Louis from their home near Omaha, Nebraska.

Though promising, the treatment does not come without risk.

Before the modified cells are transplanted, the patient must undergo an intensive chemotherapy treatment to wipe out the bone marrow — where stem cells are made — so the new stem cells can take hold.

The chemotherapy can cause organ damage and wipes out the immune system, leaving patients susceptible to infections that can be deadly. Patients get extremely ill and develop sores in their mouth and throats. Long-term, chemotherapy raises the risk of cancer and infertility.

It’s been a long and difficult journey for the Mwita family. On Tuesday, they finally got the news they’ve hoped for — that Martin’s blood cells weren’t going to hurt him anymore.

“The lung, the brain, the kidney — all these should feel much better because you have the normal hemoglobin circulating,� Shenoy told them. “This is what you did all this for. All those weeks that you put up with the side effects — this is what it was for.�

Options carry risks

The current standard of care for patients with sickle cell disease includes medications and blood transfusions to temporarily ease symptoms. The only treatment that can lead to a cure is a stem cell (also known as bone marrow) transplant.

Transplants have been mostly limited to those younger than 18 — even as young as age 5 — whose tissues matched a sibling donor or matched a donor on the donor registry list. But finding a match is difficult. Using a half-matched donor is possible, but it carries more risk.

A recipient’s immune system can reject and attack the donor cells. To prevent that, recipients must take immune-suppressing drugs, leaving them at risk of getting a serious infection.

With gene therapy, a patient’s own cells are used, which eliminates the need to find a donor and risk of rejection.

Each option carries risk, Shenoy said, and which is best depends on each individual’s circumstances. Patients must be sick enough to warrant the need for the transplant, but not too sick to where they can’t tolerate the chemotherapy.

“It can be toxic to the lung, it can be toxic to the kidney, to the heart, to the liver,� Shenoy said. “So, we have to make sure that all those organs are reasonably functioning before we expose them to the (chemotherapy).�

Patients also face the risk of infertility, and freezing embryos or sperm may be too costly.

“We sit down and talk to them about both options, and the pluses and minuses,� she said.

“But the exciting part is that there are many pathways that can get them to what we would consider a cure at this point,� Shenoy said, “something I would not have been able to tell you 15 or 20 years ago.�

Missing out

Martin nearly died when he was about 18 months old and fluid filled his lungs, said his mom. He spent a lot of time as a child in the hospital dealing with sudden bouts of pain in different parts of his body. He had to get frequent blood transfusions.

Martin said he loves to play sports and mostly hated things like not being able to play football with friends during recess or “just being too physical in general.�

He had to have a port placed in his chest to receive the frequent transfusions. When the veins around it became weak, doctors would close it and put in another. He’s had three.

“I did miss out on a lot of stuff,� he said, without dwelling too much on the negative.

In high school, his blood transfusions turned into monthly blood exchanges — which doesn’t just add healthy donor blood but also takes out an equal amount of his own blood. The exchanges helped his symptoms a lot, but their continued use can cause a dangerous buildup of iron or the body to start rejecting the donor blood.

Martin never took prescription narcotics for pain, which is unusual. Instead, he worked with a psychologist and learned to cope using breathing techniques, playing games, watching videos and listening to music. He loves the Beatles.

The skills helped him stay positive as he recovered from his five days of chemotherapy, which took his hair, peeled his skin, made him constantly spit mucus and throw up, and gave him nose bleeds and mouth sores.

His mom surprised him with a scrapbook his sister and friends made — full of pictures, encouraging notes and sweet messages. That helped a lot too.

They also relied on their faith and the words in Psalm 23, “Though I walk through the valley of the shadow of death, I shall fear no evil, for thou art with me.�

“It reminded me that sometimes you have to walk through the valley … but he’ll walk with you through it,� Jacinta said. “And just reminding ourselves that we were not alone. And I think God showed up for us in so many ways.�

Those ways included the hospital’s physical, occupational, art and music therapists, which Martin relied heavily on.

“They’ll have them come by your room, and they’ll, you know, get you up and they’ll do something with you,� like walking, drawing and playing instruments, he said. “It’s the things that kind of seem small that we might take for granted. It’s just like everyday stuff. But when you’re in that state, that’s not stuff that’s easy to do.�

Martin even earned a medal for walking a 10K — more than 6 miles — measured off in the short hallways outside his hospital room.

He and his mom said they felt like gene therapy was their only choice. Martin didn’t have a sibling match. His Kenyan ancestry made it even more difficult to wait for finding a donor match. They also feared the possibility that his body would attack the donor cells.

Luckily, Jacinta’s employer insurance covered the treatment. He was able to freeze sperm in case his fertility was affected.

“At the end of the day, it’s not, I wouldn’t say it’s an easy decision. I’m not the one going through it,� Jacinta said. “As a parent, when you’re making a decision on behalf of your child, it adds another level of complexity. What if it’s the wrong one? What if something goes wrong? And especially when you’re the first one.�

She said, “It takes a lot of faith.�

‘It’s freedom’

“Oh, we can’t do that here,� Jacinta recalled her doctor in Omaha telling her. He got Martin an appointment with Shenoy, whose department does about 10 to 15 stem cell transplants a year for sickle disease patients.

“So, we made our six-and-a-half-hour trip,� Jacinta said, “and the rest is history.�

That was nearly a year ago. In December, Martin started the gene therapy process, which involved infusing a drug that would free stem cells from his bone marrow and into his blood, where they could be drawn out.

The process took four of five hours a day, over the course of three days. (Sometimes, this effort to harvest hundreds of millions of stem cells may not work.)

His stem cells, in two containers the size of soda cans, were then shipped to Bluebird’s lab in New Jersey, where technicians added healthy hemoglobin genes to correct the mutated ones and test their quality. The corrected cells arrived back a few months later.

Martin began his chemotherapy on March 4, and he received his new cells intravenously less than a week later. On April 11, he was released from the hospital. He and his mom are staying in a nearby apartment for the rest of his appointments.

Evidence that the new stem cells had settled into the bone marrow and were already producing lots of healthy red blood cells came Tuesday.

Martin still maintained his even keel. “I think it’s pretty cool,� he said.

Martin said he’s looking forward to returning to classes at the University of Nebraska-Omaha and his job at Club Car Wash, where he enjoyed selling memberships and making sure members were happy.

“Just, I guess, to be like, outside and around school without having to really take extra safety measures,� he said. “Yeah, I think it’ll be really exciting when that happens.�

His immune system is still recovering, so he needs to avoid crowds and wear a mask for the next couple months. He’ll have to get all his vaccinations again. He doesn’t yet have the green light to attend a Cardinals game, but definitely when he returns for a follow-up appointment.

Jacinta said she is looking forward to being able to travel and see family members Martin has never seen. “He’s going to be able to go wherever he wants to go,� she said. “No restrictions.�

Shenoy said she hopes the first gene therapy patients will continue to lead normal lives long-term. She also hopes the treatments will continue to improve and become less expensive.

“We’ll probably be able to just walk through a transplant much easier than we ever could. We are heading there,� Shenoy said. “To be able to offer them gene therapy without that high-dose chemotherapy — if that becomes possible, that would be such a big step forward.�

Jacinta said she will likely seek gene therapy for her 14-year-old daughter, who also has sickle cell and has suffered from brain aneurysms. Martin’s result was worth the tribulation.

“It validated all the work that we put in, that he put in. It paid off big-time,� she said. “To imagine that going forward, he won’t have any sickling. I mean, it’s freedom.�