SCIENCE

People with Sickle Cell Deserve More Respect from Health Care Providers

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More than 50 years ago my parents took a big chance. They fell in love, got married and had three daughters, not knowing that they both carried the genetic trait for sickle cell disease.

When I first started my career in emergency medicine 28 years ago, the main treatments for this disease were intravenous fluids, oxygen and a powerful narcotic used to manage the pain of sickle cell. With the Food and Drug Administration’s recent approval of two treatments for sickle cell that use the gene-editing technology CRISPR, people with this life-shortening condition have hope for relief from the pain and reduced life span it causes. But in the meantime, we must remember that the people with sickle cell, who are mostly Black, are often marginalized in many ways, including in health care. Who gets access to this high-tech, high-cost treatment remains to be seen, so until then, health care workers at all levels must continue to take people with sickle cell at their word, treat their pain without prejudice and give them the same tenderness and respect these workers would give to a person dying of cancer or heart disease.

I never thought my parents’ sickle cell status was a big deal until my first year of medical school, where I learned about the intricacies of the disease. Sickle cell is caused by an autosomal recessive mutation on one of the chromosomes we inherit from our parents, meaning that in order for someone to have the condition, they have to inherit this mutated gene from both of their parents.

Sickle cell disease is caused by what’s called a point mutation—a change at a single spot on our DNA—that damages normal hemoglobin, the protein that helps blood carry oxygen through our body. Those misshapen hemoglobin proteins stick together in people with sickle cell, distorting the shape of red blood cells from a round shape to a sickle one that cannot flow through our blood vessels as easily. The blood cells get “stuck” to one another and block the vessels in the bones, spleen and various organs as they try to traverse through the body. When the cells of people with sickle cell clog their blood vessels, they are in extreme pain that can last for several days as their body figures out how to clear the blockage. We call this a crisis.

In high-stress conditions, such as infection, heat, dehydration or even mental duress, where oxygen is low, the sickling gets worse. The blood cells of people with sickle cell die prematurely. As a result, these individuals suffer from complications that are normally seen in people who are much older, and they have a much shorter life expectancy than people without sickle cell. When both parents have the genetic trait for sickle cell, there is a 50 percent chance they will have a child who has the trait but does not typically have symptoms of the disease and a 25 percent chance that they will have a child with sickle cell disease with each pregnancy. The chance of having a child with sickle cell disease jumps to 50 percent if one parent has the disease itself and the other parent has the trait.

As a physician in the majority-Black city of Washington, D.C., I have seen countless adults with sickle cell come in with pain related to crises and other complications that occur as the disease continues to take a toll on their prematurely aging body.

Because people with sickle cell come to the emergency department (ED) in pain, medical staff often label them with the unfortunate and disrespectful vernacular ED term “sicklers,” and this is often accompanied by assumptions that they are either not in pain and seeking opioids to get high or maybe are in pain but are still seeking drugs. This bias can cause delays in care.

Over the years, I have gotten to know the people with sickle cell who come to my ED fairly well—usually on a first-name basis. I feel a connection with them because of our shared race and the knowledge that their fate could have easily been my own. As time passes, I have seen them go from functional to frail—suffering from the multiple complications of the disease, including arthritic joints, blood clots, severe infections and strokes.

I always worry about whether they are dead or alive when there is a long period of time in which I haven’t seen them. And over the years, I have seen the number of “regulars” I have known diminish as they have fallen to their ultimate and unavoidable end—death at a median age of 53 years. I also mourn these deaths, preceded by years of suffering and having to navigate an often insensitive medical system. These individuals’ chance of early mortality is even higher if they are male or happen to have been born in sub-Saharan Africa, where up to 90 percent of children with the disease will die during childhood, usually before their fifth birthday.

There are few therapies for people with sickle cell. Parents, who often do not know their own status as a carrier, would be given genetic counseling if it was available. If they proceeded to have a child with the disease, they would have to prepare for a lifetime of stress and high costs attributable to a condition marked by periods of agonizing pain, repeated hospitalizations and early death. Individuals living with this condition pay four times the out-of-pocket costs of those without it, with insurers paying approximately $1.7 million per person for medical services attributable to the illness.

So, it’s good news that the FDA has approved two cell-based therapies for sickle cell disease—Casgevy and Lyfgenia. These are the first gene therapies for sickle cell disease based on the CRISPR/Cas9 technology. This technology, the development of which won a Nobel Prize in 2020, enables an individual’s DNA to be changed with “genetic scissors.” In the case of sickle cell, this change promotes production of fetal hemoglobin, which takes the place of the mutated hemoglobin, reducing the number of cells that sickle. This lowers the chance of one of the most painful crises experienced by patients with sickle cell: the vaso-occlusive, or blocked blood vessel, crisis. The treatment also increases life expectancy.

Prior to this therapy, curative options were limited to bone marrow transplants from donors, which were prohibitive because a person with sickle cell would need a matched donor but also because of the risk of mortality linked to rejection.

This is why the FDA approval is such a big deal. Because the disease affects a vulnerable population marked by years of racism that impacts overall care, there has been a traditional lack of attention to research and development targeting a cure.

Funding for research for sickle cell disease is significantly less than the funding for other inheritable childhood diseases. For example, over a 10-year period, the National Institutes of Health has funded sickle cell disease research at an amount equivalent to $812 per affected person. Private funding is minuscule at $102 per affected person. Contrast this with cystic fibrosis, which affects 30,000 people in the U.S., compared with the 90,000 people affected by sickle cell disease. Over those same 10 years, the NIH funded $2,807 of research per person affected by cystic fibrosis, and private organizations have funded $7,690 per person with the condition. Is it any wonder, then, that few new therapies have emerged for sickle cell disease?

The new CRISPR-based therapies are a potential game changer, but there are still many obstacles ahead. We have to get providers to accept the treatment, and we also have to get payers to somehow foot the $2.2-million-to-$3.1-million bill for a population that our health care system frankly hasn’t shown that it cares a lot about. We also have to get people with sickle cell, who have long been mistreated by providers, to actually trust us enough to undergo this novel treatment.

To do this, we need mutual respect and belief in the right of every person to have a chance at a quality and highly productive life, regardless of whether they happen to be born with just one point mutation among the multitude of genes that we share. Among people, human DNA is 99.6 percent identical, and most of it has nothing to do with the social constructs of race, gender or ethnicity. We are much more alike than we are different.

By chance, neither myself nor my sisters got both copies of the genetic mutation that causes sickle cell disease. Instead we inherited the trait. In most cases, except under some rare instance of extreme duress, we will never have symptoms. We do not have to worry about early death. We did, however, have to consider our choice of partners because of the risk of passing on this disease to any children we might have. Instead of ending up with regular visits at the doctor, one of my sisters and I were lucky enough to be on the other side as a physician, caring for those affected by this terrible, unforgiving illness.

I hope that one day this treatment will not only be proven to be highly effective but also be widely adopted. I would love for a day to come in which I will never see people with sickle cell in the ED and no one with the sickle cell trait ever has to agonize about genetics when choosing a partner. But until then, I hope that we, as health care providers, can start treating people with sickle cell with kindness, compassion and the understanding that their life is just as valuable as the life of anyone who comes into one of our emergency departments or clinics in distress.

This is an opinion and analysis article, and the views expressed by the author or authors are not necessarily those of Scientific American.

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