Sickle Cell Disease: Moving from Symptom Management to a Cure

You may have heard of sickle cell disease but do you really know what it is or how it affects those who have this widely misunderstood genetic disorder?

According to the National Institutes of Health (NIH), sickle cell disease is a group of inherited red blood cell disorders that affect hemoglobin, the protein that carries oxygen through the body.

“Normally, red blood cells are disc-shaped and flexible enough to move easily through the blood vessels. In sickle cell disease, red blood cells become crescent- or ‘sickle’-shaped due to a genetic mutation,” the NIH states. Those sickle-shaped cells “do not bend or move easily and can block blood flow to the rest of the body,” which can lead to serious problems, includingstroke,eye problems, infections and episodes of severe pain, or “crises” as they are called, that can be sparked by stress, an infection or overexertion.

The NIH says that sickle cell disease affects more than 100,000 people in the United States and 20 million people worldwide. In the U.S., most people who have the disease are of African ancestry or identify themselves as Black:

·        About 1 in 13 Black or African American babies are born with sickle cell trait.

·        About 1 in every 365 Black or African American babies are born with sickle cell disease.

Many people who come from Hispanic, Southern European, Middle Eastern, or Asian Indian backgrounds also have sickle cell disease, however. Experts note a link between sickle cell disease and malaria, which is present in all of these regions and throughout the Caribbean.

Sickle cell care in South Miami

Sickle cell experts such as Neil Miransky, D.O., are taking a more holistic approach to treating the disease. Dr. Miransky, a board-certified Baptist Health palliative medicine specialist and chief medical officer of pharmacy services, operates Sickle Cell Care at Baptist Health South Miami Hospital.

Neil Miransky, D.O.,Baptist Health palliative medicine specialist, chief medical officer of pharmacy services, and director of Sickle Cell Careat Baptist Health South Miami Hospital

“For most patients, sickle cell disease is a chronic and progressive disease that interferes with their work, their goals and their lives,” Dr. Miransky says. “We’ve created a world-class sickle cell center here in South Miami that incorporates best practices from across the globe. It’s a very forward-looking approach to caring for sickle cell patients.”

Dr. Miransky says the goal of Sickle Cell Care is to keep these patients out of the hospital. “Being able to manage a patient’s symptoms in order to avoid hospitalization is a key part of our strategy. If you only go to the hospital when you actually have something that requires hospitalization – not because of a sickle cell crisis but because of an infection or some other complication – that’s a win and it makes a difference for our patients,” he says.

However, if their disease does progress and they develop complications with the heart, kidneys or other organs, “we can open up all the doors for them by providing quick and seamless access to the vast network of services that Baptist Health has to offer,” he says.

Although life expectancy is significantly lower for patients with sickle cell disease, Dr. Miransky says he sees and knows of “plenty of patients in their fifties and sixties and seventies who have the disease.” “It’s a complex disease but one that can be successfully managed for many years with proper care and support.”

Managing pain in sickle cell disease

As a palliative doctor, Dr. Miransky helps manage symptoms for people “with bad conditions where things hurt.” He says sickle cell disease is one of the most complicated symptom management conditions they treat, in large part due to the degree of pain patients experience during a crisis.

“When cancer patients or people with genetic disorders such as sickle cell disease experience pain, it’s not a close-the-door-on-your-hand-type pain,” Dr. Miransky explains. “It’s an intense, abrupt, vaso-occlusive pain similar to having a heart attack, only it’s deep within your bones and it persists for a few days.”

These debilitating crises can be extremely burdensome on patients, Dr. Miransky says. “It makes it difficult for people to hold down jobs when they experience a pain crisis every month or two and have to call out of work for days at a time.”

Crises have traditionally been treated with opioids, which carry their own stigma and burden, he says. “It’s a balancing act because these are powerful medications for treating crippling pain and prescribing them requires skill and experience and expertise,” says Dr. Miransky.

He points out that most physicians are “very uncomfortable” writing prescriptions for the level of medications needed to manage a sickle cell crisis. “You need professionals who are well-trained and educated to support and care for these patients. That’s one of the reasons why we’ve created the Sickle Cell Care program at Baptist Health,” he says.

New treatments for sickle cell disease

Recently approved therapies are helping patients live more normal, pain-free lives.“We’ve come a long way over the last few decades in how we treat sickle cell disease,” says Dr. Miransky. “Previously, it was primarily giving people fluid, making sure they didn’t get any infections, managing their medical health, and helping them with pain management during a crisis.”

Hydroxyurea, a medication that helps to decrease the occurrence of sickle cell crises and also allows people to live longer, has been an effective tool in managing the disease over the past decade or so, Dr. Miransky says.Also, new monoclonal antibody therapies are helping keep healthy red blood cells from popping into the sickle shape that allows them to catch on blood vessels and trigger a crisis.

And with enhanced genetic editing capabilities, as well as new bone marrow transplant options, Dr. Miransky says sickle cell care will progress from managing symptoms to producing a cure in some patients or even preventing the disease.

“The new CRISPR gene-editing technology and some other methods they’re using to rewrite genetic code for sickle cell disease are cutting edge technologies that are still in their early days,” says Dr. Miransky. He adds that the gene-editing technology being applied to sickle cell will be available for so many more conditions in the near future. “What we’re learning with sickle cell disease today will in the future help somebody who has a completely unrelated medical condition.”

Just because you receive a diagnosis of sickle cell disease “doesn’t mean your destiny is foretold,” emphasizes Dr. Miransky. “Every single person is unique and every patient needs a customized plan of care. The focus of our Sickle Cell Care program at South Miami Hospital is always about improving your quality of life and your level of function. We want to give you what will best achieve your goals and allow you to live the life you want to live.”