“My life has been so associated with pain that it is even rare not to feel it anymore”: the revolutionary treatment that cured a patient of a form of chronic and severe anemia

“Mi vida ha estado tan asociada al dolor que es hasta raro ya no sentirlo”: el revolucionario tratamiento que curó a un paciente de una forma de anemia crónica y grave

Jimi Olaghere believed he would have to wait decades to be rid of his sickle cell disease. But thanks to genetic engineering, scientists have managed to manipulate his blood to overcome the disease that caused him constant pain.

“It was like being born again,” says Jimi, one of the first patients with this type of anemia to benefit from a revolutionary new gene-editing treatment being tested in the United States. Something that it has changed his lifedeclares.

“When I look back, I say to myself, ‘I can’t believe I lived with that.'”

Jimi, 36, had been living with sickle cell anemia since childhood. With that disease, “you always have to maintain a war mentality, aware that your days are going to be full of challenges.”

The disease is congenital. It is caused by a genetic mutation that causes the body to produce abnormal hemoglobin.

This is the protein that charges red blood cells in the blood and carries oxygen around the body. Red blood cells are normally round and soft, but mutated hemoglobin makes them stiff and deforms like a sickle (hence the name sickle cell).

Illustration of sickle red blood cells

Getty Images
Some of the red blood cells take on a characteristic sickle shape.

These sickle cells have a hard time navigating blood vessels and get stuck, causing blockages that slow blood flow.

The risk of suffer heart attack, stroke, or organ damage is higher in people with sickle cell anemia.

Jimi, in fact, may still need a hip transplant because some of his bone tissue is dead from lack of blood supply, an irreversible condition called avascular necrosis.

Pain has been a constant companion of Jimi. It’s like “having shards of glass go through your blood or someone hitting your joints with a hammer,” he describes. “You wake up in the morning in pain and you lie down in pain.”

But the hallmark of sickle cell anemia are the so-called crisis, severe pain events requiring hospitalization and morphine..

Jimi spent years in and out of the hospital every month.

Winters were the worst: Cold temperatures cause blood vessels to constrict near the skin’s surface, increasing the risk of blockages.

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This was the reason Jimi moved his family from New Jersey in the northeastern United States to the warmer climate of Atlanta, Georgia.

Jimi OlaghereJimi Olaghere

Jimi Olaghere
Amanda and Jimi Olaghere moved to the southern US where the climate is warmer.

The disease has affected every aspect of his life.

He works for himself in the technology sector because he believed that no employer would accept so many trips to the hospital.

To escape constant pain, Jimi found “bubbles of happiness” by playing video games and watching Liverpool football matches.

His family urged him to participate in other clinical trials or to have a bone marrow transplant, an option for some with sickle cell disease. But he believed that he would have to spend too much time in the hospital to see an improvement in his quality of life.

Instead, pinned his hopes on a cure that hadn’t been invented yet. He told his family, “One day in the future, probably 20 to 50 years from now, they’re going to edit my DNA, and it’s going to cure me of my sickle cells.”

The future came much sooner than imagined.

At the end of 2019, Jimi read an article about a new gene-editing clinical trial, so he immediately emailed the medical team. A month later, Jimi went with his wife Amanda, eight months pregnant, to the Sarah Cannon Research Institute in Nashville to see if she qualified.

When he received the news that he had been accepted for the rehearsal, Jimi declared that it was “the best Christmas present” he had ever received.

And then he was lucky.

The trial was at risk of being interrupted because, due to the pandemic, many flights were canceled due to lack of passengers. But Jimi promised to take a trip four hours by car to get to each of the sessions.

During the trial, the scientists genetically manipulated his body so that it would no longer produce the faulty hemoglobin.

First, they had to access the part of the body that makes red blood cells: stem cells that live in the spongy marrow at the center of bones.

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Then, in January 2020, she was given drugs that released stem cells from her bone marrow into her bloodstream. He was then hooked up to an apheresis machine — which separates blood components — to extract stem cells from his blood.

“You’re sitting there for eight hours and this machine literally sucks all the blood out of your body,” he said.

In the end I was physically, mentally and literally exhausted and needed a transfusion to replace all the blood that had been drawn. That was the hardest part of the whole process for Jimi, something he had to go through four times.

Jimi returned home to recover after the final donation, but the collected stem cells were just beginning their journey.

how to turn back time

Scientists were about to perform an impressive act of genetic magic that would turn Jimi’s blood back in time.

When we are in the womb, our bodies use a different type of hemoglobin called fetal hemoglobin. It binds more tightly to oxygen than adult hemoglobin, and it is essential that a developing baby be able to draw oxygen from the mother’s bloodstream.

After we are born, a genetic switch is activated and we begin to produce adult hemoglobin. It is this that is affected by sickle cell anemia.

That genetic switch — called BCL11A — was identified in the mid-2000s. And advances in the field of gene editing meant scientists now had the tools to flip it.

Our strategy is to turn off that switch and increase fetal hemoglobin production again.basically turning back the clock,” explained Dr. Haydar Frangoul, who treated Jimi at the Sarah Cannon Research Institute.

Jimi’s stem cells were shipped to Vertex Pharmaceuticals Laboratories, where the gene editing would take place.

Chart illustrating therapy to treat sickle cell anemiaChart illustrating therapy to treat sickle cell anemia


In September 2020 it was time to introduce the manipulated cells into Jimi’s body. “Actually, it was the week of my birthday. It was like being reborn,” he says.

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First, Jimi underwent chemotherapy to destroy the stem cells in his body that produced the sickle cells. The genetically modified cells were then put into his body in the hope that he would have a disease free blood.

The process was grueling, but about two weeks later, Jimi emerged as a completely new person.

“I remember waking up without any pain and feeling lost,” he recounts. “Because my life has been so associated with pain — it’s part of who I am — that it’s even weird not to feel it anymore.”

Jimi OlaghereJimi Olaghere

Jimi Olaghere

Dr Frangoul indicates that the data of the first seven patients have been “completely surprising” and represent a “functional cure” for his disease.

“What we are seeing are patients returning to their normal lives. None have required hospitalization or medical visits due to complications related to sickle cell anemia,” Frangoul said.

The same genetic procedure has been performed on a total of 45 patients, either with sickle cell anemia or another blood disorder, called beta thalassemia, which is caused by hemoglobin malformation. However, they continue to collect data.

Finally free of pain, Jimi feels that you can be the person you “always felt you had inside”. He says the illness had made him more introverted because it forced him to stay home and take precautions.

“I make this analogy: When my son was born, I watched him look out the car window and experience the world for the first time as a new human being. I almost feel the same. I am living life as a new person.”

In addition, he says that he feels that finally you can be the father you always wanted to be. “Being able to just go for a walk with my son, that’s something I thought I would never get.”

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