In New Haven, Sickle Cell Disease Association targets home treatment, raising research dollars – New Haven Register

NEW HAVEN >> Sickle cell disease is a disease of pain, compelling its patients to frequent emergency departments and forcing many sufferers to be admitted to the hospital.

The Sickle Cell Disease Association of Americas southern Connecticut chapter plans to change that outcome, bringing care and treatment to patients in their homes. The organization also plans to push for better screening for couples at risk for passing on the disease and for more research into treatments for suffering patients.

Well be tracking how we can reduce [hospital] admissions as well as emergency room visits, said James Rawlings, chairman of the board of the local organization. He and others in the organization believe that bringing pain relief to patients in their homes will be far more effective than relying on hospital stays and emergency department visits.

This approach is necessary because sickle cell disease is a stubborn, debilitating illness. The only cure is a bone marrow or stem cell transplant, according to the Centers for Disease Control and Prevention.

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Weve plateaued in sickle cell and we just have not had any new treatment approaches in decades, said Dr. Marcella Nunez-Smith, chairwoman of the Medical Advisory Committee for the local association. She calls the progress of research the leaky pipeline its often just a dry pipeline, frankly. Nunez-Smith is professor of medicine and epidemiology and founding director of the Equity Research and Innovation Center at the Yale School of Medicine.

That lack of research into new treatments has been frustrating to those involved in care and treatment of its patients. Overall I think people would say that innovation in treating the disease has been slow, said Dr. Dowin Boatright, a member of the Medical Advisory Committee. I think it has to do a lot with the fact that a lot of people in this country who have the disease have been African American.

Boatright is a clinical instructor in the medical schools Department of Emergency Medicine and a fellow in the Robert Wood Johnson Foundation Clinical Scholars Program.

Patients also carry a stigma, often being seen as drug seeking, he said. In surveys of emergency department doctors, a majority of them will say that they felt that sickle cell patients are addicted to opioids.

I think race does impact that type of interaction, Boatright said.

Advocates for sickle cell disease research are especially frustrating because the cause of sickle cell disease was discovered back in 1951 by Dr. Linus Pauling, who labeled it a molecular disease inherited from two parents who carry the sickle cell trait in their genes.

The disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans, according to the U.S. National Library of Medicine. It occurs in one in 500 African Americans and in more than one in 1,000 Hispanics. It is also found in people of Mediterranean, Latin American and Caribbean descent.

Nunez-Smith called sickle cell a disease of young adults, because life expectancy is only 45. That is an improvement from the 1970s, however, when a typical life span was only 21.

That was the impact of penicillin, Rawlings said. However, sufferers of sickle cell disease may also be afflicted with diabetes and cardiovascular diseases, making treatment complicated.

The disease is caused by a mutation in the sufferers hemoglobin, which causes red blood cells to form in a crescent, or sickle, shape. The cells are unable to deliver enough oxygen to the bodys tissues, causing debilitating pain, said Nunez-Smith. All treatments are basically designed to increase oxygen delivery, she said. Those include administering the drug hydroxyurea and hydration.

One of the mainstays of therapy, hydroxyurea, was developed as a chemotherapy agent, so its a harsh medication with some harsh side effects, Nunez-Smith said. I see that as one of our great pressing issues in terms of sickle cell, is identification of better, newer agents for therapy.

While hydroxyurea manages symptoms of sickle cell disease, many patients resist it because of the side effects, Nunez-Smith said. Those include gastrointestinal problems, hair loss, infertility and a suppressed immune system, making the patient more likely to contract other diseases. Patients are reticent to start therapy because the side effects are so harsh, she said.

And those patients not on hydroxyurea therapy come into hospitals with pain crises, Nunez-Smith said. They dont have medications to keep them well and then, when they get unwell, interacting with the health care system is hard. Sickle cell disease patients average 5.6 hospital admissions per year, she said.

You should have those days just to do what you want, not to be in the hospital, she said.

One of the programs wed like to pilot is thinking about earlier-stage intervention in terms of pain crisis, Nunez-Smith said. If we can deliver them earlier and at home, we might be able to reduce emergency department use and hospital admission and improve quality of life.

If we have a 10 or 15 percent reduction in admissions, thats millions of dollars that are saved by the state, Rawlings said, because 100 days spent in the hospital can cost $1 million, and many patients are on state assistance.

Because of the difficulties of hospital treatment, patients for understandable reasons try to postpone pain care, Nunez-Smith said. The message that the association would like to get across to patients is, at the first inkling of a pain crisis, call us. A nurse can come to your home, she said.

I think patients would like to have more options for pain management and have more options at home as well, Boatright said. In the hospital were able to give stronger medications with an IV and there is potential for doing that with a visiting nurse but thats not standard practice right now, he said.

Boatright said there is an infusion center at Yale New Haven Hospital, where patients can receive opioid medications, but its often crowded, so patients end up in the emergency department.

Probably for the majority of patients theyre not able to access the infusion center during an acute pain crisis, he said.

In the emergency department, patients run into suspicions that theyre opioid addicts. I think its even more problematic in this heated climate that we have for opioid awareness, Boatright said. Last year, 917 people died of opioid overdoses in Connecticut.

Rawlings said the plan for home infusions is ground-breaking. No one else has done it, he said. The hope is that other cities will build on New Havens experience. If they can see the way weve done it other communities across the country can benefit, he said.

In addition to bringing opioid medications to patients in their homes, one of our initiatives is in screening marriage licensing, which isnt routinely done anywhere, said Nunez-Smith. Connecticut no longer requires a blood test to get a marriage license, according to a spokeswoman for the state Department of Public Health, so the only screening is of newborns.

The association wants to distribute information about how sickle cell disease is inherited so couples can make informed decisions about whether to have children. You can be a carrier of sickle cell or you can have sickle cell disease and you can certainly be a silent carrier, Nunez-Smith said. Two people who are unaware they are carriers for sickle cell may have children with the disease.

By and large individuals dont know their status, Nunez-Smith said. They both may be carriers; they dont even know it.

Boatright said many people find out about sickle cell disease either by having sickle cell themselves or knowing someone closely that has sickle cell, but we dont feel theres enough information about sickle cell otherwise.

A third goal is thinking about how we train a broader base of clinicians to provide comprehensive care to patients with sickle cell, Nunez-Smith said.

Its a really diverse, interdisciplinary, interprofessional [effort], she said. We have every kind of patient provider. The help has been available in the community. What we lacked is really the creativity to think about all the resources we already have in place, she said.

She said a fourth goal of the association is raising awareness about the need for more drug discovery and development. If you look across diseases, sickle cell research [receives] a pretty low proportion of funding, she said.

Rawlings compared efforts to find treatments and a cure for sickle cell disease to the early days of the AIDS epidemic, even though sickle cell predates AIDS by 100 years, he said.

This year, an estimated $3 billion in federal dollars will be spent on HIV/AIDS, and $78 million on sickle cell disease, according to the National Institutes of Health.

I think its been an orphan disease in America thats been a disease of minorities The clients are by and large socioeconomically poor and challenged, Rawlings said.

The local sickle cell disease chapter has launched a capital campaign to support its initiatives. Donations can be made at http://www.scdaaofsouthernct.org.

The things that were doing, not only are they innovative but theyre the first time theyre being done in the United States, Rawlings said.

Call Ed Stannard at 203-680-9382.

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In New Haven, Sickle Cell Disease Association targets home treatment, raising research dollars - New Haven Register