Breaking News
February 19, 2018 - ID Break: Clean Hands, Fewer Abx; $11 Million HIV Cure?; MenB Vax for Kids
February 19, 2018 - Patient exposure to X-rays depends on how dentists are paid
February 19, 2018 - FDA approves first treatment to reduce risk of NSCLC progression
February 19, 2018 - FDA Expands Approval of Imfinzi (durvalumab) to Reduce the Risk of Non-Small Cell Lung Cancer Progressing
February 19, 2018 - D.C. Week: Congress Passes Spending Bill
February 19, 2018 - Heart-muscle patches made with human cells improve heart attack recovery
February 19, 2018 - FDA Approves First Blood Test to Detect Concussions
February 19, 2018 - Survival Bump in Bladder Cancer with Keytruda
February 18, 2018 - Scientists describe the mechanism of heart regeneration in the zebrafish
February 18, 2018 - Scientists uncover the structure of microtubule motor proteins
February 18, 2018 - Light-activated cancer drugs without toxic side effects are closer to becoming reality
February 18, 2018 - Pioneering research could provide novel insight into how genomic information is read
February 18, 2018 - Pearls From: David Putrino, PhD
February 18, 2018 - Researchers uncover how cancer stem cells drive triple-negative breast cancer
February 18, 2018 - Morning Break: Anti-Anti-Vaxxers; Private Piercings Prohibited; A Case for Pelvic Massage
February 18, 2018 - Lower-dose radiation effective, safe for HPV+ head and neck cancer after induction chemo
February 18, 2018 - Specialist residential service for adults with autism opens in Swansea
February 18, 2018 - FDA Moves to Limit Loperamide Doses per Package
February 18, 2018 - Alcohol use disorder – Genetics Home Reference
February 18, 2018 - Autism might be better detected using new two-minute questionnaire
February 18, 2018 - Hand hygiene-intervention practices may reduce risk of infection among nursing home patients
February 18, 2018 - Researchers develop most sophisticated mini-livers to date
February 18, 2018 - Obamacare Helped More Young Women Get Prenatal Care: Study
February 18, 2018 - School-Based Program Fails to Dent Kids’ Obesity
February 18, 2018 - Research compares neural activity in children with and without autism spectrum disorder
February 18, 2018 - Poor fitness levels increase the risk dementia, concludes study
February 18, 2018 - Risk Score May Reveal if Kids are Victims of Ill-Treatment
February 18, 2018 - Adding Folic Acid to Corn Masa Flour May Prevent Birth Defects
February 18, 2018 - Acute treatment suppresses posttraumatic arthritis in ankle injury
February 18, 2018 - A Role for Budesonide in Autoimmune Hepatitis?
February 18, 2018 - Lupus patients exhibit altered cell proteins, a discovery with potential implications for diagnostics
February 18, 2018 - Muscle plays vital role in regulating heat loss from the hands
February 18, 2018 - High-tech brain scans can provide new way to define intelligence
February 18, 2018 - Study reveals the association between ultra-processed foods and cancer
February 18, 2018 - Prescription Opioid Use Tied to Higher Pneumonia Risk
February 18, 2018 - A non-invasive method to detect Alzheimer’s disease
February 18, 2018 - Deletion of specific enzyme leads to improvement in memory and cognitive functions
February 18, 2018 - Amyloid protein may be transmitted through neurosurgical instruments, study suggests
February 18, 2018 - Electric brain signals of males and females show differences
February 18, 2018 - American Heart Association commends McDonald’s for offering healthier menu in kids’ meals
February 18, 2018 - Parents Find Kids’ Weight Report Cards Hard to Swallow
February 18, 2018 - Does a Financial Conflict of Interest Ever Expire?
February 18, 2018 - Exercise can improve Alzheimer’s symptoms
February 18, 2018 - Scientists develop green chemistry method to improve pharmaceutical manufacturing efficiency
February 17, 2018 - ‘A Time Clock to a Tissue Clock’ for Acute Stroke Care
February 17, 2018 - Cancer Care Gets Personal | NIH News in Health
February 17, 2018 - Do more youth use or do youth use more?
February 17, 2018 - Eating faster linked to obesity
February 17, 2018 - Who’s Still Smoking? ACS Report Highlights Most Vulnerable Adults
February 17, 2018 - Study of smoking and genetics illuminates complexities of blood pressure
February 17, 2018 - Study reveals new link between bone cells and blood glucose level
February 17, 2018 - Children with reading challenges may have lower than expected binocular vision test results
February 17, 2018 - Mass Shootings Trigger Change for Emergency Medicine
February 17, 2018 - ECMO helps revive woman thought to be drowned
February 17, 2018 - Learning stress-reducing techniques may benefit people with epilepsy
February 17, 2018 - Shedding Pounds Before Weight-Loss Surgery a Smart Move
February 17, 2018 - FDA Approves New Cystic Fibrosis Drug Combo
February 17, 2018 - Augmented Reality helps surgeons to ‘see through’ tissue and reconnect blood vessels
February 17, 2018 - Emotional state affects operation of the entire brain instead of being restricted to specific regions
February 17, 2018 - Apalutamide Slows Metastasis in Prostate Cancer
February 17, 2018 - Kids’ well visits linked to lower appendicitis complications
February 17, 2018 - New NK cell-based immunotherapy effective against several types of leukemia
February 17, 2018 - Producing Super-Swelled Lyotropic Crystals for Drug Development
February 17, 2018 - Pfizer Receives Breakthrough Therapy Designation from FDA for PF-04965842, an oral JAK1 Inhibitor, for the Treatment of Patients with Moderate-to-Severe Atopic Dermatitis
February 17, 2018 - Molecular Imaging Flags Risk of AAA Rupture
February 17, 2018 - Researchers identify risk factors for sleep apnea during pregnancy
February 17, 2018 - More work required to find the right drug dosage for pediatric patients
February 17, 2018 - Factors ID’d That Predict RA Remission with Etanercept
February 17, 2018 - A handout or a hand up? How we judge others guides how we help others
February 17, 2018 - ACR receives grant to focus on projects that reduce health disparities
February 17, 2018 - Pimavanserin Might Be Safer Alternative to Ease Dementia Psychosis
February 17, 2018 - Risks of Lung Screening Seen Outweighing Benefits in Many with Smoking History
February 17, 2018 - The impact of Hurricane Harvey on pregnant moms
February 17, 2018 - Gene editing tool used to detect cancer
February 17, 2018 - Researchers detail molecular atlas of cells that form brain’s blood vessels
February 17, 2018 - TUM scientists observe formation of myelin sheaths around nerve fibers
February 17, 2018 - Worst Flu Season Yet? | Medpage Today
February 17, 2018 - Finding the root cause of bronchiolitis symptoms
February 17, 2018 - Climbing stairs reduces hypertension and strengthens muscles
February 17, 2018 - Nature paper unveils bacterial division
Sickle cell patients, families and doctors face a ‘fight for everything’

Sickle cell patients, families and doctors face a ‘fight for everything’

image_pdfDownload PDFimage_print

Valentine has sickle cell disease, an inherited blood disorder, and his doctors had warned him throughout his life that he was not likely to make it to 30.

That birthday passed without event, and so have four more. Still, Valentine’s disease has left him severely disabled and ill. “Instead of 34, I feel like I’m 68, just with all the stuff I’ve been through,” he said.

He uses a portable oxygen tank, needs a hip replacement and sleeps in a hospital bed on the first floor of his parents’ house — he is in too much pain to make it up the stairs to his bedroom. And an early death still looms: “I could wake up in the morning, brush my teeth, eat breakfast and by the time afternoon comes rolling around, I could possibly be dead.”

Like many people with sickle cell, Valentine has watched as one successful advocacy campaign after another brought attention and resources to other disorders, including breast cancer, HIV, cystic fibrosis and Lou Gehrig’s disease (amyotrophic lateral sclerosis or ALS). But little is heard about sickle cell. With drug development and other treatments, outcomes for the vast majority of diseases have improved over the past few decades, while life expectancy for sickle cell patients has declined.

To sickle cell patients and their families — most of whom are African-American — efforts to fight the disease appear slow, underfunded, ineffective or too limited in scope, perpetuating disparities that have existed for more than a century.

“You feel like the baldheaded stepchild that no one cares about,” Valentine said from his bed at Edward Hospital in Naperville, Ill., where he was recovering from one of his bimonthly blood transfusions. A catheter dangled from his neck. “What about us? We’re here too.”

Sickle cell disease affects an estimated 100,000 people in the United States, causing chronic pain, multi-organ failure and stroke. With annual costs to treat the disease soaring past $1 billion, new efforts are afoot to improve the lot of patients. But each of these developments faces limitations and obstacles:

  • In July, the FDA approved the first new drug to treat sickle cell in two decades. Yet specialists say the drug, Endari, will likely have limited benefit, and insurers are already balking at covering it. Physicians associations are working to disseminate guidelines to improve care and reduce discrimination against sickle cell patients, who often are assumed to be drug addicts when they come to emergency rooms in severe pain. Still, there has been so little research on sickle cell that it is difficult even to write evidence-based protocols.
  • Legislation in Congress to fund research and treatment, stalled since 2009, is finally moving out of committee. But the bill would provide only $4 million — less than half its original funding level.

Meanwhile, most sickle cell patients struggle to access even the most basic care.

“It’s appalling. This country ought to be ashamed of itself,” said Valentine’s mother, Francesca Valentine, who has been a registered nurse for over 35 years and, with Marqus and the rest of the family, has become an activist for sickle cell patients. “I am baffled that in 2017, we’re still not treating the disease based on science, and we still deal with racism and stigma and inaccurate information.”

The Fight For Medicine

Francesca Valentine is gearing up for a fight with her insurance company over Endari, the new FDA-approved drug, which will likely be on the market in January. Endari is a highly refined version of a nutritional supplement called L-Glutamine, which has been shown to relax the stiff, sickle-shaped red blood cells of people with the disease. It’s the first of a number of new drugs in the pipeline and will cost about $3,300 per month for the average adult.

But many insurers plan to restrict how the drug covered.

Several, including the Valentines’ Blue Cross Blue Shield’s Federal Employee Program, will cover Endari only if patients have “failed first” at other treatments, including blood transfusions and hydroxyurea (the only other drug available to treat sickle cell) — even though in studies Endari appeared to be of benefit when given in conjunction with other treatments.

At least one insurer, Cigna, which covers 15 million people, says it will not cover Endari at all because it is a nutritional supplement.

If insurance doesn’t cover the drug for her son, Francesca Valentine said she and her husband would both need second jobs. Because Marqus is disabled, he is on his mother’s insurance plan, which she gets through her job at the Department of Veterans Affairs. If necessary, she plans to challenge her insurer by writing letters explaining the science. “It’s like this disease has to fight for everything. We should not have to fight for everything,” she said.

While the Valentines and many other sickle cell families have high hopes for Endari, doctors already question whether it will mark a significant improvement in care.

“We have one treatment option, so it’s lovely to have a second treatment option, but I don’t think this will change the world of sickle cell,” said Sophie Lanzkron, who directs the adult sickle cell clinic at Johns Hopkins Medicine. “It’s not a game changer.”

And because Endari is a powder that must be taken twice a day, Lanzkron worries it will be an inconvenience for patients, leading to poor compliance.

As it stands, few patients even receive the current standard of care: hydroxyurea. The chemotherapy drug, approved for sickle cell treatment in 1998, is considered safe and costs less than $100 per month.

About 3 in 4 sickle cell patients who could benefit from hydroxyurea are not being treated with it, according to a study published in 2015 in the Journal of the American Medical Association.

“We should be prescribing it to everybody who’s eligible, and everyone who’s eligible should be taking it,” Lanzkron said.

Some patients do not want to take it because of side effects such as hair loss, skin changes and nausea, but many others lack access to doctors who understand how to prescribe the drug.

“What amazed me are the number of people in their 30s who have never seen a hematologist,” said Julie Kanter, who runs the sickle cell program at the Medical University of South Carolina in Charleston. Many hematologists do not treat sickle cell patients, and a 2014 survey found that just 20 percent of family physicians are comfortable caring for them, mainly due to a lack of training on the complex disease.

“In general, 80 percent of the patients are not well cared for, are not on the right medications and have not been screened for the right issues,” said Kanter.

The Fight For Informed Care

Instead, these patients often go to emergency rooms in severe pain, as the misshapen red blood cells clog the vessels and cut off oxygen to joints and organs.

“It feels like you want to die almost. You just want the pain to stop — nothing but pure, unfiltered pain,” Marqus Valentine described. “Your mind starts to race, your brain cannot process it. And it just doesn’t stop. It does not stop until someone intervenes and you get medication.”

But emergency room doctors rarely understand how to treat these crises, and many patients are misdiagnosed and inappropriately sent home, said Patricia Kavanagh, a pediatrician and emergency department physician at Boston Medical Center. “What we learn about sickle cell disease in med school is usually covered in 20 minutes.”

Nearly 40 percent of sickle cell patients have to be readmitted to the hospital within 30 days — more than for any other diagnosis, according to the federal government’s Agency for Healthcare Research and Quality.

Kavanagh brought protocols established by national experts for sickle cell treatment to her own emergency room, but says ER doctors are “coming late to the table.”

In 2014, the National Heart, Lung, and Blood Institute, part of the National Institutes of Health, put out guidelines for physicians, and 11 national organizations endorsed the protocols — not the American College of Emergency Physicians (ACEP), however.

Recently, Kavanagh has been working with ACEP to get more emergency departments to adopt the guidelines and to triage sickle cell patients faster, so they don’t have to wait for care in a crisis or get misdiagnosed.

But protocols are only as good as the science behind them, and “the evidence for most of the guidelines is not strong,” because there have not been enough studies on the disease, said Rosalyn Stewart, a Johns Hopkins physician who is an investigator on a federal grant to improve care for people with sickle cell.

“In the totality of health care, the research that has been devoted to sickle cell has been very small compared to other diseases with the same frequency,” she said.

The Fight For Funding

Sickle cell funding pales in comparison to other diseases. Cystic fibrosis, which affects 30,000 people in the U.S., for example, gets seven to 11 times more funding per patient than sickle cell disease, according to a 2013 study in the journal Blood.  The ALS challenge in 2014 raised $115 million for approximately 20,000 patients in the U.S.

There are some new studies in the works, including eight funded by the Patient-Centered Outcomes Research Institute, but many questions remain unanswered.

One major problem is that no national data registry exists for sickle cell disease, unlike most other diseases, said Mary Hulihan, director of the sickle cell program at the Centers for Disease Control and Prevention.

“It means we don’t know what is happening to the patients. We don’t have even basic information like how many people in the U.S. have sickle cell disease or where they are getting their health care or what their health care utilization looks like,” said Hulihan. “The most basic questions you would like to have answered cannot be answered at a national level for this condition. It makes things very difficult.”

Congress has not passed funding or a directive for such a registry, said Hulihan, so instead the CDC Foundation has obtained limited funding from pharmaceutical companies to collect data — and only in California and Georgia. There is no funding to expand the program to other states.

So far, Congress has taken little action. In 2004, it provided $10 million per year in funding for sickle cell research, surveillance and treatment as part of the American Jobs Creation Act, but those funds expired in 2009.

Since then, Rep. Danny Davis (D-Ill.) has been trying to get a reauthorization passed, with little success. “Sickle cell does not have the priority in this country that it had in the 1960s, when I started working on it,” said Davis. “Congress has been cutting everything that wasn’t nailed down.”

Even with all the delays and setbacks, experts and patients alike remain hopeful that the treatment of sickle cell disease can gain momentum and attention.

“Things are happening that have never happened before. I’ve been around sickle cell for a while, and never before have you seen this kind of buzz,” said Derek Robertson, president of the Maryland Sickle Cell Disease Association. Robertson, whose brother died in 1977 from the disease, said he would like to see sickle cell take its turn on the national stage.

“I would like to see the NBA have a day where they talk about sickle cell or wear a color. I don’t realistically expect sickle cell to be like breast cancer, but we could have more. I don’t know if LeBron James knows about sickle cell disease.”


Kaiser Health NewsThis article was reprinted from khn.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News, an editorially independent news service, is a program of the Kaiser Family Foundation, a nonpartisan health care policy research organization unaffiliated with Kaiser Permanente.

Tagged with:

About author

Related Articles