Breaking News
October 23, 2018 - SLU researcher seeks to find solutions for ‘chemo brain’ symptoms and side effects of opioids
October 23, 2018 - Plastics now commonly found in human stools
October 23, 2018 - Zoledronic acid increases disease-free survival in premenopausal women with HR+ early breast cancer
October 23, 2018 - Cancer survivors at risk for heart failure during, after pregnancy
October 23, 2018 - Stanford project brings health education videos to mothers in South Africa
October 23, 2018 - HIV-infected Hispanics at higher risk of developing HPV-related cancers, finds study
October 23, 2018 - Politicians hop aboard ‘Medicare-for-all’ train, destination unknown
October 23, 2018 - Study suggests rising childhood obesity rates as cause for serious hip disease in adolescents
October 23, 2018 - Study highlights existence of barriers to early clinical trial access for adolescents and young adults
October 23, 2018 - Protein sequencing technique could revolutionize biomedical research
October 23, 2018 - Canon Medical to showcase world’s first Ultra-High Resolution CT system at ASTRO 2018
October 23, 2018 - Spectrum Pharmaceuticals Announces Release of Updated Poziotinib Data From MD Anderson Phase 2 Study in Non-Small Cell Lung Cancer Patients
October 23, 2018 - Cancer stem cells use ‘normal’ genes in abnormal ways
October 23, 2018 - Bad Blood: A conversation with investigative reporter John Carreyrou | News Center
October 23, 2018 - As U.S. fertility rates collapse, finger-pointing and blame follow
October 23, 2018 - Researchers develop promising targeted strategy to treat chemo-resistant blood cancer
October 23, 2018 - Pilot clinical trial shows effectiveness of bioelectronic medicine device for lupus
October 23, 2018 - Genentech’s combination therapy improves outcome in patients with non-squamous non-small cell lung cancer
October 23, 2018 - 11th World Stroke Congress examines high stroke impact in low- and middle-income countries
October 22, 2018 - Breast cancer survival could be extended with two new drug combinations
October 22, 2018 - Researchers discover how acne-causing bacteria resist treatment
October 22, 2018 - Cancer trial shows treating the prostate with radiotherapy improves survival
October 22, 2018 - New hope for a drug to treat lymphedema symptoms
October 22, 2018 - Immune-Based Treatment Helps Fight Aggressive Breast Cancer, Study Finds
October 22, 2018 - Takeda announces positive Phase 3 ALTA-1L data in first-line therapy for advanced ALK+ NSCLC
October 22, 2018 - Paternal exercise has significant impact on child’s lifelong metabolic health
October 22, 2018 - Targeting specific genomic mutation in breast cancer improves survival
October 22, 2018 - Loss of tumor protein p53 helps cancer cells grow in hostile environment
October 22, 2018 - IDT to demonstrate CRISPR expertise at European-focused events
October 22, 2018 - Breathing through the nose improves memory consolidation
October 22, 2018 - Recreational Marijuana Now Legal in Canada
October 22, 2018 - Scientists reveal drumming helps schoolchildren diagnosed with autism
October 22, 2018 - A stage IV cancer patient discusses what it means to live well with serious illness
October 22, 2018 - In Kids with Autism, Short Questionnaire May Detect GI Disorders
October 22, 2018 - Innovative strategy opens up new avenue of treatment for anthrax infections
October 22, 2018 - Merck presents MK-1454 Phase 1 data for treatment of advanced solid tumors or lymphomas
October 22, 2018 - Aspirin may be effective in preventing blood clots after knee replacement
October 22, 2018 - Drug cocktail that increases lifespan discovered
October 22, 2018 - Gilead Sciences presents Phase 3 results of filgotinib in biologic-experienced rheumatoid arthritis at 2018 ACR/ARHP Annual Meeting
October 22, 2018 - Study shows potential positive impact of group prenatal care on birth outcomes
October 22, 2018 - Immunotherapy with pembrolizumab extends survival in metastatic or recurrent head and neck cancer
October 22, 2018 - Health Tip: Keep Ticks Away
October 22, 2018 - Obsessive-compulsive disorder – Genetics Home Reference
October 22, 2018 - Researchers find disrupted functional connectivity in cerebellum of adults with HF-ASD
October 22, 2018 - Deciphera presents Phase 1 clinical results of DCC-2618 in patients with gastrointestinal stromal tumors
October 22, 2018 - Combination of Opdivo and Yervoy shows four-year survival benefits in patients with advanced melanoma
October 22, 2018 - Overcoming bottlenecks in early drug discovery with the power of sound
October 22, 2018 - Scientists discover genes that contribute to ADHD development
October 22, 2018 - Incyte announces Phase 2 FIGHT-202 trial data in patients with cholangiocarcinoma
October 22, 2018 - FDA approves update to Rituxan label to include information on treatment of rare forms of vasculitis
October 22, 2018 - At-home biofeedback therapy effective in relieving difficult-to-treat constipation
October 22, 2018 - Merck presents KEYNOTE-057 trial results for patients with high-risk non-muscle invasive bladder cancer
October 22, 2018 - People with periodontal disease less likely to reach healthy blood pressure ranges
October 22, 2018 - Phase III LONSURF study shows progression-free survival in patients with refractory metastatic gastric cancer
October 22, 2018 - Primary care doctors ‘not doing enough’ to curb STDs
October 22, 2018 - Pfizer announces PALOMA-3 trial results in patients with HR+, HER2- metastatic breast cancer
October 22, 2018 - ImmunoGen announces study results of platinum-resistant ovarian cancer therapy at ESMO 2018 Congress
October 22, 2018 - Study findings could set new standard of care for advanced anal cancer
October 22, 2018 - Erlotinib improves progression-free survival in EGFR mutated NSCLC
October 22, 2018 - Pain, insomnia, and depression often drive osteoarthritis patients to seek medical care
October 22, 2018 - The International Society of Refractive Surgery honors Vivior Chairman with Casebeer Award
October 22, 2018 - Multi-strain probiotic helps reduce chemotherapy-induced diarrhea in cancer patients
October 22, 2018 - Study shows potential of avelumab plus axitinib as new treatment option for patients with advanced RCC
October 22, 2018 - Vertex gets European CHMP positive opinion for KALYDECO to treat patients with cystic fibrosis
October 22, 2018 - Phase III trial reports positive results with HDAC inhibitor in advanced breast cancer patients
October 22, 2018 - Prostate radiotherapy improves survival in men with low burden of metastatic disease
October 22, 2018 - Duration of respiratory disturbances may better predict mortality risk from OSA
October 22, 2018 - Free phone app helps low-income obese patients to lose weight
October 22, 2018 - Immunotherapy with nivolumab and ipilimumab may improve survival in patients with MSI-high metastatic colorectal cancers
October 22, 2018 - FOTIVDA expected to be included in new ESMO guidelines for advanced renal cell carcinoma
October 22, 2018 - Compression Collar May Protect Brain of Female Soccer Players
October 22, 2018 - Technique visualizes neuron communication
October 22, 2018 - Advancement in medical imaging methods for health care
October 22, 2018 - Takeda presents vedolizumab phase 3 VISIBLE 1 trial results for treatment of moderately to severely active ulcerative colitis
October 22, 2018 - Immunotherapy increases survival in some patients with metastatic triple negative breast cancer
October 22, 2018 - Exelixis presents CABOSUN and METEOR trial results in patients with advanced renal cell carcinoma
October 22, 2018 - LYNPARZA Phase III SOLO-1 results show improved outcome for patients with advanced BRCA-mutated ovarian cancer
October 22, 2018 - Brainlab unveils ExacTrac Dynamic at ASTRO meeting in San Antonio, Texas
October 22, 2018 - Not exercising is worse than smoking, diabetes or heart disease finds study
October 22, 2018 - Shorter course of trastuzumab could be an option for women with HER2+ early breast cancer
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