Trying to Reconstruct Fertility in Sickle-cell Disease: What Gene Therapies are Available and Costly for a Woman in Need?
It is hard to tease out the risks because the trials were small and could not include a control group. Participants in clinical trials were also carefully selected, he notes, and lacked some of the organ damage or history of stroke that might be present in people with severe sickle-cell disease, making it hard to know how well the gene therapies will work — and how safe they will be — in that population.
The risk of bone destruction is higher in people with the disease than in the general population. The risk of cancer can be raised by the chemotherapy regimen. There are new transplant protocols that use less chemotherapy, that DeBaun hopes will reduce the risk of side effects.
Woolford reached out to a few cancer charities that offer assistance to try and retain fertility for women undergoing cancer treatment. “I don’t have cancer, but I’m getting chemo and radiation,” she explained. Maybe you can squeeze me in? The answer was no.
Before she had a stem-cell transplant, Teonna Woolford had wanted six children but the price was too high. By then, her sickle-cell disease was landing her in hospital about every other week. She’d had both hips replaced because of bone damage caused by impaired blood flow and her liver was failing. Her doctors told her to consider a stem-cell transplant.
Both stem-cell transplants and gene therapy require chemotherapy before the treatment. Chemotherapy can be dangerous and time-Consuming. Women who go through it are often left infertile. They can opt to have their eggs frozen before treatment, but in the United States, the harvesting, freezing and storage of eggs typically costs more than $10,000.
Stem-cell transplants and gene therapies for treating illness have grown in popularity over the past decade. Researchers have improved protocols for stem-cell transplants, and the US Food and Drug Administration (FDA) approved two genetic treatments last year — including the first CRISPR-based genome-editing therapy the agency has ever authorized.
At the same time, gene-targeting therapies have also progressed. One therapy provides a way to change the function of a gene in people with the disorder. The other therapy, called Casgevy (exagamglogene autotemcel), uses CRISPR–Cas9 genome editing to reactivate a form of haemoglobin that is normally inactivated soon after birth. This fetal haemoglobin helps to compensate for the dysfunctional version.
Support for Sickle Cell Transplants: Stories from a Support Group in Los Alamos, California, (Importance of a Conversation with Jones)
Over timelogged vessels can cause strokes and damage the organs, such as the heart and kidneys. In the United States, people with sickle-cell disease have an average life expectancy that is some 20 years shorter than people without it1.
Sickle-cell disease is caused by a mutation in the gene encoding a component of haemoglobin, the oxygen-carrying protein complex found in red blood cells. The haemoglobin distorts the cells into a crescent shape, which are usually round. Those misshapen cells can clog blood vessels, which deprives tissues of oxygen, causing severe bouts of overwhelming pain, called pain crises.
Jones says that she is still trying to work out how best to make her voice heard by health-care providers unaccustomed to treating people with sickle-cell disease after a transplant. “Long-term care is often overlooked,” she says. “It does take a while for the body to catch up — and for the mind to get there, too.”
Stories and experiences are shared by members of the support group, who sift out the misinformation along the way. In a recent virtual gathering, the group marvelled over Supacell, a drama series on streaming service Netflix in which a group of Black Londoners with sickle-cell disease in their families develop superpowers. They groaned in pity when one of them recalled their battle to get doctors to take their condition seriously.
She believes her findings will translate to the experiences of those who receive a transplant. The recipients of other forms of gene therapy have had the same problems. Stem-cell transplant recipients can now be assigned a psychiatrist who will meet them before and after the procedure to help them adjust to their new life. Krishnamurti spends years preparing people for the procedure and the turmoil that can come afterwards. Do you think you are a warrior for the swerve-cell? Your training to become a sickle-cell veteran starts now,” he tells them.
How to get those data in the first place is still a question. Cell- and gene-therapy recipients often remain in the care of their transplant team for some time after their treatment. They return to their health-care providers if they don’t know the full medical history of their patient, or if the test and data reporting expectations for people who have received a gene therapy is not clear.
And there are mental-health challenges to navigate, too. After noticing that many transplant recipients appeared to struggle after their procedures, the haematologist and her colleagues conducted a survey of health challenges that arise after a transplant
That in-betweenness extended to her medical care: because blood tests no longer indicated she had sickle-cell disease, physicians sometimes turned her away when she sought help for her pain. “They say, ‘Well, why are you here?’” she says. You have to suffer at home.
For most of her life, Genesis Jones’s daily routine revolved around her illness, the painful blood disorder known as sickle-cell disease. Each time she left the house, she ran through a mental checklist: did she have her pain medications? What was her level of energy? Would she be able to make it through the day?
Jones was told less than a month after her transplant that she had cancer. Three more rounds of chemotherapy and other treatments drove her cancer into remission, but she still struggles with chronic pain in her back and legs caused by decades of tissue and nerve damage from sickle-cell disease. She worries that the signs of mild cardiac inflammation may mean that her new stem cells are attacking her heart.
After Grehan was treated in a clinical trial, research found that the effects of the genes he received waned over time. As a result, physicians often urge recipients to have their blood-clotting proteins checked routinely. Grehan was not aware of that concern when Nature approached him in March.
LaBelle believes that there could be data that would address questions as the therapies expand from clinical trials to hospitals. The FDA has suggested that gene-therapy manufacturers should collect data from the recipients of their products for up to 15 years after treatment. The researchers outside of those companies have set up a registry to track the recipients of gene therapies.
One of the patients now on that path is DeShawn Chow, 19, of Irvine, Calif. He started treatment for a cancer at the City of Hope in Los Angeles. He isn’t concerned about the effect the treatment will have on his ability to have children.
“A lot of people are suffering — and not just suffering, but dying — every day,” says Gray, who’s now 39 and works full time at a Walmart. We have something that we can stop it from happening. I want people to be free of this type of fear, worry and the level of pain that’s indescribable.”
Evil Within: Managing Blood Disease in the Presence of Misshapen Cells and Other Health Benefits, and How Much Do They Really Need?
In addition, the companies are working to help patients afford the treatments and related care, and more government and private insurers are paying for it.
It is a huge decision for a patient to embark on this journey. Stuart Arbuckle, executive vice president and chief operating officer at Vertex, says it is going well. “The reaction that we’ve had from payors, from physicians, and patients has been terrifically exciting.”
But getting all the costs covered can be tricky. And it remains far from clear how the majority of patients who suffer from these genetic blood disorders will ever get them, given that they live in economically disadvantaged countries in places like Africa and Asia where the new therapies remain unavailable.
“It’s almost like I’m battling myself,” says Adekanbi, 29, who lives in Boston. I don’t know if it would be called evil within, but sometimes it feels like that.
The disease is caused by a genetic condition in which red blood cells change into different shapes. These misshapen cells clog blood vessels, damaging vital organs and causing unpredictable, debilitating attacks of pain.
Source: Sickle cell gene therapies roll out slowly
What to do when sickle cells begin Gene Therapy? A scenario of Adekanbi and the process of obtaining the gene therapy gene therapy
“It gets to the point sometimes where you’re like, ‘I cannot continue living this way,’ ” she says. “You feel like you’re losing your mind. Sometimes I can’t move. I just lay in one spot and try to distract myself from the pain.”
She wants to have children in the future. I am very worried about the process that your body goes through to be able to get into the Gene Therapy process, how that will affect fertility.
Adekanbi is far from alone in wondering what to do. While there’s a lot of excitement about the treatments among sickle cell patients and those suffering from a related disorder known as beta thalassemia, only about 60 of the thousands of patients eligible for the treatment have started the process.
Adekanbi would try to freeze her eggs if she decided to do so. But she and other potential patients are concerned about more than their fertility. The treatments also are grueling and complicated in other ways.
Source: Sickle cell gene therapies roll out slowly
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“You could be in the hospital for months,” says Melissa Creary, who studies sickle cell at the University of Michigan School of Public Health. “Even if you’re not in the hospital, you’ll have to be nearby the hospital, which could or could not be in the state that you live in. And then once therapy is finished, there is a very complex process of follow-up for many, many months, again potentially in a state that you don’t live in.”
Some patients are concerned about potential long-term risks, according to an official of the association.
Both therapies that they make appear safe so far, as stated by the two companies who make them.
It seems like it is taking time to get the treatments widely accepted, given how complicated they are, but both companies say that interest is increasing fast.
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Survivor Bloomington: Living in a Forest with a Native-American Community, and the Challenge of Voting for Election Officials in the 21st Century
NPR project coordinator Nina Fill discovered Survivor at 12 years old and her life was changed forever. Her obsession over the competition show is still there at 36. Though she pondered going on the show, 26 days of minimal sleep and food just wasn’t for her. But last year the Survivor gods smiled on her when she was accepted into Survivor Bloomington, a four-day live game based on the show. She found herself in a heavily wooded Bloomington, Ind., backyard, meeting her tribe as a production crew filmed. Fill knew that live reality games, or LRGs, existed, but finding one so close to her home was a game-changer. They brought her to a new community by building up her confidence.
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