New gene therapies confront many sickle cell patients with an impossible choice: a cure or fertility

As a teenager, Marie Tornyenu was always having to explain herself. If it wasn’t the chronic absences that had her doing homework from a hospital bed, it was the quilted blanket she carried with her on the days she could attend class. “It was a running joke that I was like 80 years old,” she said. “I would usually just laugh it off because the alternative was too depressing.”

Tornyenu was born with sickle cell disease. Sudden cold drafts constricted her blood vessels, causing a pile-up of red blood cells. Bent into crescent shapes as the result of a genetic mutation, they choked her tissues of oxygen and sent waves of excruciating pain through her body. Despite the precautions she took and the medications her doctors prescribed, Tornyenu still missed 100 days of high school due to these pain crises.

That made Bethlehem, the eastern Pennsylvania city where she grew up, an oftentimes lonely place. Like most of the 100,000 or so Americans with sickle cell, Tornyenu is Black, and the only other person she knew with the disease was her father. He and her mother had met after immigrating from Ghana, and he coached Marie about how to manage their shared diagnosis. But he had no way to comprehend her worst symptom.

“My killer was getting my period,” she said. It would start with a dull ache in her hips before spreading into her thighs and then consuming her legs entirely. “I couldn’t walk. I couldn’t talk. All I could do was curl up in the fetal position for days.”

During her freshman year of college, she learned about a clinical trial of an experimental technology called CRISPR that could edit the DNA of blood-forming cells so they would no longer twist into a sickle shape and wreak havoc on her organs. There was just one catch: To make room for those edited cells, she would have to receive chemotherapy. Those toxins wouldn’t just kill the defective blood stem cells in her bone marrow, they would also wipe out other rapidly dividing cells — including the cells in her ovaries that give rise to eggs. Her doctors told her that the risks of chemotherapy leaving her sterile were high.

Related: How sickle cell became the first disease treated by CRISPR

Tornyenu, then just 19 years old, felt torn between the hope of being pain-free and the despair of losing something she’d always wanted — a family of her own. But the allure of a potential cure eventually overcame her doubts. On December 28, 2021, doctors at Children’s Hospital of Philadelphia pushed millions of Tornyenu’s cells — each containing a genetic edit — through an IV line and into her arm. She hasn’t had a pain crisis since. Two years later, she is virtually sickle-cell free.

“It’s surreal,” she said. Now instead of agony, apprehension follows her around; she’s still learning to trust that a blast of cold air won’t be followed by a blinding bout of pain.

Trading her chances of having children naturally for a chance at freedom from a debilitating genetic disease was a difficult choice. But at least Tornyenu was presented with the option of preserving the possibility of having biological children. As part of the trial of the CRISPR treatment, called Casgevy, the companies developing the drug paid for participants to get counseling with reproductive specialists and procedures like egg and tissue freezing and sperm banking. At one study site, every single participant took advantage of these services, researchers said.

It’s an option that most Americans who could benefit from this transformative therapy — expected to be approved by the Food and Drug Administration any day now — are unlikely to have once it hits the market. That, patients and specialists told STAT, will be a huge obstacle for people eager to try Casgevy or a second sickle cell cure awaiting the FDA’s nod this month.

The risks of infertility are a much bigger psychological burden than many people appreciate, said Adrienne Mishkin, a psychiatrist at the blood and bone marrow transplantation program at New York Presbyterian/Columbia University Medical Center. Cancer patients who experience infertility after a bone marrow transplant often have depression and report the inability to have children as one of their main regrets. “These patients often want children but don’t feel they have a choice and it later plagued them,” Mishkin said.

In contrast, people with sickle cell have the option not to seek curative therapy, which makes infertility, for them, almost bigger in a way, said Jill Ginsberg, a pediatric oncologist at Children’s Hospital of Philadelphia who helped coordinate fertility preservation for participants in the Casgevy clinical trial. For a minority of sickle cell patients, there is an existing curative treatment: a bone marrow transplant from a genetically matched donor, usually a sibling. Fewer than 20% have a good match, but even then, many say no. “Infertility has been one of the biggest barriers in getting those patients to transplant in the past,” Ginsberg said.

While fertility services are universally available in countries like the U.K. and throughout Europe, in the U.S., coverage varies state to state, insurer to insurer, and diagnosis to diagnosis. A minority of states have laws that mandate coverage for fertility preservation for people undergoing medical procedures that could imperil their ability to have biological children, and even where mandates exist, many exempt public insurers.

That will leave most people living with sickle cell in the U.S. — the majority of whom are covered by Medicare or Medicaid — to shoulder the costs of fertility preservation on their own, even if their insurer agrees to cover the pricey gene therapy cures. Fertility preservation, which can run upward of $20,000 for women, less for men, is more likely to be out of reach for the typical Black household, which has one-fourth the amount of cash held by the typical white household. That’s before IVF, which only works some of the time and can easily add another $20,000 to $65,000 to the pursuit-of-biological-children price tag.

Even getting that far assumes that sickle cell patients receive counseling about the infertility risks associated with various treatments and with the disease itself. More often, when it comes to reproductive and sexual health care, they’re met with silence or their concerns are dismissed. Tornyenu informed her hematologist and a parade of OB-GYNs about the disabling pain associated with her periods but was always told the same things: “we don’t know” or “that’s just sickle cell, there’s nothing else we can do.” “I cannot tell you how frustrating that was,” she told STAT. Only after getting Casgevy, when her period pain persisted, did a doctor look more closely and tell her that she might have fibroids or endometriosis.

Like the chronic underfunding of sickle cell research, a severe shortage of qualified disease specialists, and insensitive care patients receive in emergency rooms and urgent care settings, this lack of attention to fertility and gynecological issues is another example of the discrimination sickle cell patients face.

CRISPR-based medicines and other gene therapies have been promoted as a long-awaited salve to the racial injustices endured by generations of sickle cell patients — an opportunity for American society to make racial health reparations. With infertility risks largely unaddressed, some patients and physicians who care for them are left feeling that in our health care system, those lofty promises will be rendered incomplete.

“Is it adequately reparative if we deny people the opportunity to have families?” said Lydia Pecker, a sickle cell doctor at Johns Hopkins in Baltimore. “Lots of people say these kinds of questions are secondary. And that’s fair. To reproduce you have to survive. But what does it mean to survive? What does it mean to survive well?”

For Tornyenu, now 22, the therapy has meant that little by little, she’s starting to live like someone whose future is for the first time, unbounded.

Later this month, she’ll graduate from Cornell University with a degree in accounting. Before she begins a job as a management consultant in Boston next summer, she plans to spend some time abroad — something she was always afraid to do before. “It’s the best feeling ever to know I can just do the things I want to do with my life,” Tornyenu said. “I can have a career. I can travel. I can plan for a family. Everything I’ve seen people in movies do.”

While today sickle cell shortens lives, that wasn’t always the case.

About 10,000 years ago, somewhere in Africa, a single-celled parasite slipped from the saliva of a mosquito into human flesh and began sweeping rapidly through populations across the continent. Before long, Plasmodium falciparum had sickened millions of people with malaria, and killed millions more. The first stage of the disease begins when one of these parasites snags onto the surface of a smooth, disc-shaped red blood cell, wriggles inside, and starts to reproduce.

Red blood cells ferry oxygen throughout the human body. As such, they’re not complicated machines, more like wet bags filled with hemoglobin — a molecule made up of four chains that snap together like Legos, each one with an iron-laced landing pad ideal for grabbing on to oxygen.

Related: U.K. approves world’s first CRISPR-based medicine, giving green light to therapy for sickle cell, thalassemia

Up until this point in human history, mutations occurring in any of the genes that make these hemoglobin building blocks were problematic — twisting red blood cells into crescent shapes, reducing their durability, or causing fewer of them to be produced in the first place — and were therefore rare. But with the emergence of malaria, such changes became advantageous, making it harder for Plasmodium falciparum to grow and establish an infection.

Although the exact mechanism of protection remains unknown, as more people carrying them survived, those mutations began to spread across Africa, and later, as a result of forced migration and enslavement, to the United States and the Caribbean.

But there can be too much of a good thing. In the early 1900s, doctors in Chicago examining a patient suffering from anemia, joint problems, stomach upset, difficulty breathing, and episodes of severe pain discovered that under a microscope, his blood cells weren’t smooth and saucer-shaped as they should be. Instead, they had a “large number of thin, elongated, sickle-shaped and crescent-shaped forms.”

Scientists later learned that these malformations were caused by a structural change in hemoglobin driven by a mutation in a single gene. People with one altered copy of the gene can pass it on but don’t have symptoms; people with two copies inherit misshapen red blood cells and the miserable consequences. It was the first demonstration of “a molecular disease,” as the noted biochemist and Nobel laureate Linus Pauling and colleagues wrote in their paper describing sickle cell anemia in 1949. That knowledge raised a tantalizing prospect: debug the broken molecule’s glitchy code and you’d have a cure.

It would be decades before scientists developed tools to manipulate DNA in a precise and predictable way. In the meantime, sickle cell anemia was quickly labeled a “Black disease” in the U.S., where as a result it has remained underfunded and under-studied compared to other genetic conditions.

Take cystic fibrosis, an inherited disease most common among people of European ancestry. Including public and private funding, cystic fibrosis receives 10 times the research dollars that go to sickle cell. And the 30,000 Americans living with cystic fibrosis can seek specialized care at more than 280 nationally recognized treatment centers. As of 2021, only 30 such centers existed for the 100,000 Americans suffering from sickle cell.

Without enough well-trained doctors and nurses, many sickle cell patients struggle to access quality care and are more often subjected to biased treatment that leaves them in agony. Only a handful of medications to treat the symptoms of sickle cell have been approved by the FDA. The most transformative one — a drug called hydroxyurea that can prevent pain crises and stave off organ damage — requires regular blood monitoring that most general practitioners would rather not mess with. Fewer than 25% of adults who could benefit from a hydroxyurea prescription actually receive the drug. These failures add up to a high mortality rate for adults with the disease, half of whom won’t make it to their 50th birthdays.

“By the time I was 26 years old I felt like I had lived well over half my lifespan,” said Ugonna Anyadike, a hip-hop artist in Baltimore. Born to Nigerian immigrants who carried the sickle cell trait, and the only child of five to have the disease, Anyadike always wanted kids of his own. But he gave up hope of being a father when he began to feel the weight of lowered life expectancy.

“My biggest fear was always that I would die on my kids when they were young, like 5 or 6,” he told STAT. “That ruins a kid’s life. I’ve seen it happen. If I were to have kids, I would want to know I could be there for them.”

Everything changed for Anyadike in January last year, when he received an experimental bone marrow transplant through a clinical trial at the National Institutes of Health. Five weeks after the procedure, he found himself in the hospital’s gym staring at a treadmill. Despite playing sports like football and basketball all through his childhood, he’d never been able to run a mile without having to walk and rest. He turned the treadmill on. Twelve minutes later he stepped off, victorious.

Miles logged: one. Times he had wanted to die: zero. “That was crazy to me,” he said. “That was the first time I realized this thing really worked.”

Related: New attacks on the drug industry would have made my breakthrough sickle cell treatment impossible

Anyadike knows he is lucky. He has a healthy brother who was a full match and a willing donor. His procedure went well, which isn’t guaranteed. Bone marrow grafts can be rejected, resulting in death in up to 5% of cases. And he was able to take a medical leave from his day job as an IT professional to undergo the months-long process of recovering in a hospital isolation room while his blood and immune systems rebuilt themselves. During that time, he didn’t acquire any infections, which would have ravaged his defenseless body, a possibility he was quite scared about.

But in the lead-up to the bone marrow transplant, none of these risks ever caused him to question the decision to go through with it. The only reservation he had was when his doctors told him about the risks to his fertility because chemotherapy is used in the procedure. “That was the one thing that made me pause, made me second-guess,” he said. He proceeded because NIH covered the expense of sperm freezing and storage as part of the trial.

But for many sickle cell patients, the infertility risks of chemotherapy are too high a price to pay. In fact, in a small survey of adult sickle cell patients considering an experimental bone marrow transplant, almost two-thirds were willing to accept the risk of dying from the procedure. Infertility was acceptable to only half.

For children who haven’t gone through puberty, the possibility of infertility may be even more of a hurdle. “At least 10 to 15% of the time that ends the conversation,” said Mark Walters, director of the pediatric blood and bone marrow transplant program at UCSF Benioff Children’s Hospital in Oakland. “Those families choose not to go the transplant route because childbearing autonomy is so important to them.”

While adults can pursue egg and sperm freezing — which has allowed some people to have children through IVF following chemotherapy and transplant — the picture for children is more complicated. In the last two decades, researchers have had some success removing parts or all of the ovary from prepubescent females, freezing the tissue and then later thawing it and returning it to the body. In one case series from Germany, 25% of people who had the procedure went on to give birth, and it is rapidly being adopted as the standard of care. But scientists don’t yet know if a similar approach will work for testicular tissue, so the only thing to do at the moment is freeze and hope.

“For young males there are currently only experimental options,” said Lillian Meacham, a pediatric endocrinologist at the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta, which operates one of the few blood disorder centers with an embedded team dedicated to reproductive health and fertility preservation. “It’s a really different conversation when you’re talking to adolescents versus parents of a young child who might not be ready to have a family for 20 to 30 years, but nonetheless the conversation has to occur.”

Even in the simplest scenarios, fertility preservation for sickle cell patients is a laborious process. Before undergoing chemotherapy to prepare his body for the transplant, Anyadike was told he would likely need to go off of hydroxyurea for a couple of months so that his body had time to produce enough sperm to bank. And he would have to get monthly blood transfusions to prevent pain crises and other symptoms.

When he went to a urologist, his sperm count came back at zero, which studies have shown happens to about one-third of men taking the drug.

“This came as news to me,” Anyadike said. “I didn’t know it could affect fertility.”

Going off of hydroxyurea restored his sperm counts to a healthy range, and he was able to bank several samples. But the case illustrates the growing pains inherent in providing care for a patient population that four decades ago wasn’t surviving to adulthood; all too often, their reproductive health is treated as an afterthought, if not ignored altogether.

Each year in Maryland, about 100 babies are born with sickle cell — 97% of them African American — making it one of the states with the highest incidence of the disease. Johns Hopkins, the state’s premier medical institution and one of the top hospitals in the country, is where many of these infants will receive care as they become children, then adolescents, then adults.

And yet, when Pecker arrived at its Sickle Cell Center for Adults in 2019, she brought the number of physicians on staff to two. For the previous 15 years, a doctor named Sophie Lanzkron had been the clinic’s lone provider, caring for more than 500 patients.

Related: Sickle cell cures are coming. African children can’t be left behind

So it’s no surprise to Pecker, who holds dual appointments in hematology and obstetrics and gynecology, that the reproductive health of patients is not yet a standard concern at most sickle cell treatment centers. Even at a well-resourced institution like Hopkins, she said, the clinic lacks embedded genetic counselors and other specialists who could help patients think through how their disease, and potential treatments, might affect their decisions around family-building. “People are already stretched pretty thin.”

Sickle cell is often described as a disease of accelerated aging; the damage caused to people’s organs from lack of oxygen leads to stroke, heart and kidney failure, osteoporosis, and other afflictions of the elderly. Pecker studies what happens in the reproductive organs. Even before treatments like hydroxyurea or bone marrow transplant, the disease causes chronic inflammation that changes their normal function, chipping away at fertility in the process.

Girls tend to menstruate later, are more likely to have painful periods, and hit menopause sooner. The ovarian cells that give rise to eggs don’t slowly dwindle over time but die off precipitously, shrinking their supply of eggs in an accelerated fashion. “It’s looking like they have a narrower reproductive window than normal,” said Pecker.

For men, sickled blood can congest blood vessels in the penis, causing painful, hours-long erections. Called priapism, the condition can decrease sperm count and impair sexual function.

But scientists know little about how the disease impacts people’s reproductive life spans, because it’s an area where large research studies have not yet been conducted. Pecker was part of an expert panel convened by the Centers for Disease Control and Prevention in 2020 that concluded that these yawning knowledge gaps were leading to “significant limitations to clinical care.”

Many patients don’t even know what they’re missing until something forces the issue. That’s what happened to Teonna Woolford, who at age 19 was suffering from pain crises and other complications despite being on hydroxyurea. She learned about an experimental half-match bone marrow transplant trial at Hopkins, which would allow her mother to be her donor. But she was worried about losing the ability to have children — she’d always wanted six — and raised those concerns when she brought up the possibility of participating in the trial with her doctor.

“I was told that with my history and complications, I was probably already infertile and didn’t even know it,” she said. “It was shocking to hear. Until then, I didn’t know sickle cell could impact fertility. I was quite informed about my disease and I’d never had that conversation with anyone.”

A recent study suggests Woolford’s experience is more normal than not. Despite widespread interest in having children, a significant number of sickle cell patients reported being unaware of the fertility risks related to their disease.

Woolford, unwilling to give up on her dream, began to do her own research. She discovered the possibility of preserving whatever fertility she had left before undergoing the chemotherapy that was required for the transplant. But then she learned her insurance wouldn’t cover egg freezing, which could cost more than $10,000 — an expense she couldn’t afford. She found a number of foundations that provide financial assistance for the procedure, but they only gave grants to people receiving chemotherapy to treat cancer.

A number of different procedures fall under the term “fertility preservation.” For an adult woman, that means hormone shots to stimulate the ovaries to produce eggs, followed by egg retrieval surgery and freezing — the same drugs and procedures that are used at the front end of an IVF cycle. Which means that in the eyes of insurers, preserving fertility is no different than treating infertility, which historically has been seen in the U.S. as a commercial service, not a medical intervention, and is rarely covered.

Related: Vertex, CRISPR Therapeutics inch ahead of rival for genetic fix to sickle cell disease

In the last decade, nearly two dozen states have passed laws making coverage of fertility-related health care mandatory, including Maryland, where Woolford lives. But even if the law had existed at the time of her bone marrow transplant, it would not have helped her because she was on Medicaid, and like many states, Maryland’s coverage mandate exempts public insurers.

Only two states provide significant fertility coverage through Medicaid. New York offers coverage of fertility medications and Illinois covers the storage of sperm or eggs for those facing a medical treatment that will likely render them sterile. Utah has also passed separate laws expanding Medicaid coverage for fertility preservation to cancer patients and IVF and genetic testing for people with a number of inherited conditions including sickle cell disease, but negotiations between the state and federal officials remain ongoing.

“Where these coverage mandates have been put in place, for the most part, it’s been affecting only commercial insurers because the legislatures are not wanting to add to state costs,” said Joyce Reinecke, executive director at the Alliance for Fertility Preservation. Bills to add fertility treatments to states’ Medicaid programs recently failed to pass in Connecticut and Washington.

That’s leaving the majority of sickle cell patients with little access to fertility preservation.

A study published last year in the American Journal of Obstetrics and Gynecology found that state mandates that apply to private insurance but not Medicaid may worsen existing racial disparities in accessing fertility-related health care.

It’s not just a matter of finding the money and political will at the state level, Reinecke said. Many of the drugs that stimulate ovulation are not on the Medicaid approved list of medications. And many clinicians who provide fertility preservation procedures don’t accept Medicaid patients. “Those are larger structural problems that have yet to be solved,” she said.

Even for people with commercial insurance, most state coverage mandates are vague, leaving room for insurers to interpret what benefits they are required to offer, said Irene Su, an OB-GYN at the University of California, San Diego, who researches fertility preservation policies. One plan might cover egg freezing but not the medications, ultrasounds, and procedure to get the eggs out. Others might cover just the drugs.

“For too many people with sickle cell disease, their health insurance status means that the types of fertility preservation services covered are none or not meaningful,” Su said.

Related: CRISPR’s pioneers reflect on the first gene-editing treatment

That was certainly Woolford’s situation. Unable to pay, she reluctantly went ahead with the bone marrow transplant without first freezing her eggs, convincing herself that forfeiting her fertility was a fair tradeoff for a cure. The procedure went well at first. But soon Woolford’s body turned against her mother’s cells. Now, at age 32, she still has sickle cell disease. And she’s infertile.

“I still really want children and I’m in a better position to have them and can’t. It’s just devastating,” she said.

In the intervening years, Woolford periodically fell into spells of despair and bitterness. She wondered how things would be different had she had cancer instead of sickle cell, if her doctors had prioritized her reproductive health instead of treating it like something to be sorted out later. “There are a lot of providers who are well-intentioned, but there is a pervasive way of thinking that says ‘hey, just be grateful to survive,’” she said. “A lot of times the people in the labs are so focused on preserving our organs, taking away our vascular occlusions, that they forget we’re whole people who want children or healthy sex lives.”

A few years ago, Woolford decided to channel all this frustration into creating an organization dedicated to raising awareness for fertility preservation and helping sickle cell patients pay for it. Since its launch last year, the Sickle Cell Reproductive Health Education Directive (SC RED) has teamed up with Be the Match — a registry run by the National Marrow Donor Program to connect patients with potential donors — to provide grants for egg freezing and sperm banking to a handful of sickle cell patients. Woolford and her co-founders, who include Pecker, are now working with fertility clinics to provide discounted rates to sickle cell patients as well as advocating for laws that would require insurers to cover fertility preservation and other services for people with sickle cell.

“The fact that so many state mandates and so much philanthropy flows to cancer patients and not to us is hurtful,” Woolford said. “They’re given fertility and a cure, but in sickle cell it’s fertility or a cure and I just don’t think that’s fair.”

To physicians like Pecker, it’s a glaring example of how treating sickle cell patients isn’t just about combating disease, it’s about combating racism. “It’s very difficult to disentangle these things in the U.S. context,” she said.

The history of sickle cell is entwined with the history of slavery, with American eugenics, with state-sponsored sterilization programs that disproportionately targeted Black communities and continued well into the second half of the 20th century. In 1968, the same Linus Pauling who had discovered the sickle cell hemoglobin began openly advocating for coercive genetic testing, suggesting that “there should be tattooed on the forehead of every young person a symbol showing possession of the sickle cell gene or whatever similar gene” to discourage young people carrying the defective DNA from procreating with one another.

In the era of CRISPR cures, reproductive injustice looks more like inadequate genetic counseling, scarce fertility specialists, and insurmountable personal costs for care. It may be less brazen, but the effect is still that people with sickle cell are denied their reproductive autonomy.

“Other countries aren’t confused about this.” Pecker said. “They don’t pussyfoot around the idea that having a family is a fundamental human value. And it’s not like some entitled or privileged position to take that people who want to live full lives should have medical care that can perhaps help some of them achieve that dream.”

Casgevy has been hailed as a milestone in medicine, the first treatment based on the revolutionary CRISPR technology that enables efficient and precise editing of DNA to repair or replace faulty genes. But addressing patients’ infertility concerns will be critical to the commercial success of the drug, which was made by CRISPR Therapeutics and Vertex Pharmaceuticals, as well as the prospects of the other gene therapy likely to be approved in the coming days — Bluebird Bio’s lovo-cel — and a number of similar products being developed by startups like Beam Therapeutics and academic groups.

Some patients and their families may decide to wait for the next generation of “in vivo” CRISPR medicines. In contrast to Casgevy, which edits cells in a lab before they are infused back into the patient, these new therapies will edit DNA inside the body and won’t require chemotherapy.

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Walters, the Oakland transplant specialist, is helming a University of California consortium-backed clinical trial using CRISPR to correct the faulty hemoglobin gene in sickle cell patients — instead of boosting a fetal version of the protein like Casgevy does. It still requires chemotherapy though, so even as he recruits study participants, he is up front with them about the fact that he sees the current crop of CRISPR cures as an important, but imperfect first step.

“Where we need to be is with a technology that delivers that gene-editing tool directly to the stem cells where they live in the body through an injection,” Walters said, one that wouldn’t require patients to first undergo chemo. Something like that has significant hurdles — getting enough CRISPR to the hard-to-reach bone marrow being the big one — but is ultimately possible, he believes. Even a small amount of editing would have an outsized effect because sickled cells last only 10 days in the bloodstream compared to 120 days for healthy, saucer-shaped ones; over time, healthy cells would naturally outpopulate the malformed ones.

Sometimes, after his conversations with families, they decide they want to use existing medications to keep symptoms at bay long enough to buy time until a chemo-free option becomes available, Walters said. Others don’t have that luxury. “If you’re really miserable right now, you might not want to wait even a day longer.”

For those patients, companies are likely to be limited in the support for fertility preservation they can provide by federal anti-kickback laws. Together, they prohibit pharmaceutical companies from offering or paying, directly or indirectly, any remuneration to induce government-insured patients to purchase their drugs. In recent years, federal prosecutors have more aggressively been pursuing violations of these laws as a way to rein in programs that provide patients with free medications, copay assistance, or help with navigating insurance coverage, as well as donations made to charitable foundations that provide financial assistance to patients.

Eleanor Celeste, a spokesperson for Vertex, told STAT that the company recently learned that if Casgevy is approved, providing assistance with fertility preservation to patients with Medicaid and Medicare coverage would be seen as a violation of these prohibitions. “We recognize the potential fertility needs for this patient population and have established a program that compliantly offers fertility support to eligible commercially insured patients,” she said in an email.

“Unfortunately, the federal government has informed us that it will not issue a favorable Advisory Opinion for this program for patients insured by the government … and as a result we are not providing fertility support for them. We are working with urgency to resolve this, with the goal of providing equal support for all patients regardless of insurance.”

Jess Rowlands, a spokesperson for Bluebird, said the company knows potential loss of fertility is a key consideration for patients. “No patient or family should have to choose between a lifesaving or potentially curative treatment option and the ability to have a child,” she said in an emailed statement. “Patient services programs are highly regulated. Given the potential limitations on manufacturers, we are committed to working with patients, patient advocates, and others in the healthcare space to seek a legislative path to equitable access to fertility preservation.”

It’s something Tornyenu hopes gets sorted out so that no patient is forced to choose between receiving relief from their sickle cell and safeguarding the possibility of one day having biological children. “I wouldn’t want that for anyone,” she said. If it were up to her, fertility preservation and curative treatments like a bone marrow transplant or gene therapy would always be a package deal.

“No one should have to give up their ability to create a life, if that’s what they want, in order to save their lives,” she said.