By Gerry Smith

When Celenise Mahmood first learned about two new gene therapies that could cure sickle cell disease, she felt a wave of relief.

Her 9-year-old son, Navid, has the inherited blood disorder. By age 5, he’d had over 30 life-saving blood transfusions. He has also lost hearing in his left ear. Though he’s too young to get the treatments now — eligible patients must be 12 or older — Celenise began to imagine a brighter future for him.

But then she learned about a significant drawback: Patients who undergo the therapies must take a toxic drug that can leave them infertile. Unless they're able to freeze their reproductive cells, a costly proposition, they’re forced to choose between freedom from a painful lifelong condition and having children someday.

“I feel very apprehensive about going forward with the therapy,” Mahmood said. “I’d hate to be the one to make that choice for him, and he can’t start a family in the future.”

The risk of infertility threatens to limit how many people get the new treatments: one from Bluebird Bio Inc. and another from partners Vertex Pharmaceuticals Inc. and Crispr Therapeutics AG. Approved in December, the gene therapies have been hailed as a breakthrough for some 100,000 Americans with sickle cell disease, a condition that mostly affects Black people in the US.

For some, getting a treatment that could leave them unable to have children is “a huge concern,” said Lewis Hsu, chief medical officer of the Sickle Cell Disease Association of America.

“It is their primary stumbling block,” he said.

Now, under a new plan from the Biden administration, many people with the blood disorder would no longer face that difficult decision.

Affordable Gene Therapy

The main goal of the plan, which was announced in January, is to help states pay for gene therapies, which have steep prices that can strain limited state budgets. But it also requires drugmakers to pay for fertility preservation services for people on Medicaid who get their treatments. More than half of Americans with sickle cell disease are on Medicaid, the health insurance program for the poor.

Currently, only a few states — including Illinois and Maryland — offer fertility coverage for Medicaid recipients.

Gene therapy aims to correct the underlying genetic flaws that cause inherited diseases. People with sickle cell disease have a genetic mutation that causes red blood cells to bend in a crescent shape instead of a round one, making it harder for essential oxygen to reach tissues and organs. Severely affected patients live under the constant threat of pain crises.

Navid’s pain gets worse in the winter or when he’s experiencing stress in school, his mom said. She often treats it at home with Motrin or heating pads. It’s unclear whether the family’s private insurance would cover the new gene therapies or fertility preservation. Celenise calls the arrival of new gene therapies an “amazing opportunity,” but the risk that her son could become infertile weighs on her.

“It’s a potential cure for a lifelong illness that he has,” she said. “But at what cost?”

Drugmakers Want to Pay

Before getting the new gene therapies, patients undergo high-dose chemotherapy to remove cells from the bone marrow so they can be replaced with modified cells.

But those same drugs can be toxic to sperm and eggs. Fertility preservation typically involves removing reproductive cells from a patient’s body to protect them from damage; it’s often used by cancer patients before they receive similar drugs.

But it can be expensive. The average cost for one cycle of egg freezing in the US is $12,400, according to the Alliance for Fertility Preservation. That doesn’t include the medications needed for the process, which typically cost about $5,000. Sperm banking can range from $500 to $1,000. Storing reproductive tissues can run $200 to $500 per year.

Drugmakers want to help pay for those procedures. But under the law, they are limited in their ability to cover fertility preservation for Medicaid or Medicare patients because it could be seen as inappropriately influencing the use of their product. The new Biden administration plan gives them legal protection to do that. While that would add to their costs, it would likely increase how many people get their treatments, and it’s relatively cheap compared to the potential revenue of the gene therapies, which are more than $2 million.

The Biden administration plan, however, doesn’t take effect until next year and is voluntary, so some states may not participate.

On Monday, Bluebird said it signed an agreement with Michigan’s Medicaid program for its gene therapy for sickle cell disease, the company’s first, and it’s in discussions with more than 15 other states. A Bluebird spokeswoman said the company was encouraged that the administration’s plan includes fertility preservation, but said legislation or policy changes may be needed to ensure it can offer that to all Medicaid patients.

For now, “manufacturers don’t have the legal clarity on what they are and aren’t able to provide,” said Erica Cischke, vice president for government affairs at the Alliance for Regenerative Medicine, an industry trade group.

A Vertex spokeswoman said it’s “working with urgency” to provide fertility services for government-insured patients that get its treatment, “with the goal of providing equal support for all patients regardless of insurance.”

Quality of Life

For people with sickle cell disease, the question of whether they can have children isn’t new. The disease itself carries the risk of infertility. So does a bone marrow transplant, which had been the only cure. Some patients are hesitant to get a potential cure that affects their fertility.

“It comes down to a quality of life issue,” said Teonna Woolford, chief executive officer of the Sickle Cell Reproductive Health Education Directive, a nonprofit that advocates for the reproductive and maternal health of people with the blood disorder. “For a lot of people, having biological children is part of their quality of life.”

Nia Sumpter, who is 28 and lives in St. Louis, has long struggled with painful episodes caused by the blood disorder. She has scars below her neck from infusion ports that were inserted when other veins weren’t accessible.

Still, Sumpter, who is on Medicaid, said she’s reluctant to get one of the new gene therapies that could cure her condition because she wants to potentially have a second child. When she’s suffering from a painful crisis caused by the disease, her 5-year-old son is the one to comfort her.

“No medicine can top the healing nature from the love of a child,” she said.