Improving Sickle Cell Disease by Providing a Cure

UI Health now provides hope for a cure to patients with sickle cell disease through stem cell transplantation and without the need for chemotherapy.

The procedure — developed at the National Institutes of Health in Bethesda, Maryland, and validated at UI Health — relies on transplanted cells from a healthy, tissue-matched, full sibling. Patients receive immunosuppressive drugs just before the transplant, along with a very low dose of total body irradiation, a treatment much less harsh and with fewer potentially serious side effects than chemotherapy. Next, the sibling donor cells are transfused into the patient. Stem cells from the donor produce healthy new blood cells in the patient, eventually in sufficient quantity to eliminate symptoms of sickle. In many cases, sickle cells can no longer be detected.


In 2011, Chicagoan Iesha Thomas became the first patient in the Midwest to successfully receive a stem cell transplant to cure sickle cell. Thomas Thomas had her first sickle cell crisis when she was just 8 months old. Her disease became progressively worse as an adult, causing bone damage that required two hip replacements. Six months after her transplant at UI Health, Thomas was cured.

Lesha is now in her 40s

Now you can all marry for love again, and not for genotype!


Graduate student at the University of West Florida
UPDATE: In November 2017, Stephenson had a successful transplant and her journey was featured in a segment about sickle cell disease on CBS 60 Minutesexternal link, on Sunday, March 10, 2019. She shared a few thoughts about her life after the therapy.

“I am feeling amazing after the treatment; but it has been a year of adjustment, for sure,” Stephenson said. “I have been testing my body’s new limits, and really exploring my level of physical fitness.”

The change has demanded hard work to adapt her mindset, she explains, because what had been one way for 27 years is, suddenly, different, and her way of thinking needs to keep pace. “At times it has been a struggle, because my body doesn’t feel like my own anymore,” Stephenson said.

She wouldn’t say she is cured. “But I can confidently say that I feel healthy. I never knew the body could feel this good,” affirmed Stephenson.

Just as before, her family remains her rock. They have been “amazing through this whole period. They always tell me that I’m developing into the best version of me. We all feel so blessed to have been a part of this experience.”

With that, she said an apologetic goodbye: “I’m on the go.” (Updated on March 9, 2019).

Her story: Jennelle Stephenson was diagnosed with SCD at birth, and it has been a challenging journey ever since. She has had pain episodes so intense that she temporarily lost mobility in her extremities. Most of her crises occur out of the blue, without warning. “Living with this disease is a scary, unpredictable rollercoaster. Every morning when I wake up, I have to plan my day as if I were going to go into crisis. Whatever I do and wherever I go, I have to make sure that I have a plan and the proper supplies if a crisis were to occur.” Despite the challenges, Stephenson is currently pursuing a master’s degree in health care administration.

Unimaginable hurdle: Stephenson has lived most of her life trying to participate at the same capacity level as her peers. Her biggest challenge was finally accepting that she had to do things at a different pace than everyone else. “I would disregard the fact that I had an illness and continue to assimilate with the crowd, enjoying typical life activities, such as going swimming whenever I wanted, working, running, going to classes, daily household chores, and even traveling with no hesitation. I eventually came to a point where I had to stop and say to myself, ‘This is not for me. I’m killing myself trying to keep up.’ I now follow my body’s lead and take it at my own pace.”

How she survived: In the midst of tough times, Stephenson surrounds herself with laughter and positivity. “It is easy for me to get sucked into my pain and lay in the dark crying. So instead of tears, I laugh between every grimace of agony. I make sure that loved ones around me don’t focus on the negative but find the comedy in the situation. I think of my goals, give myself a little pep talk, then I will my body to make it out of a dark spot.”

Her motivator: Stephenson is currently enrolled in a gene therapy trial at NIH and is expecting to receive her transplant in November. “I have recently become more hopeful and optimistic in life due to the gene therapy clinical trial. Just the idea of being able to potentially live a life that is pain free keeps me smiling and keeps me fighting for another day.”
https://www.nhlbi.nih.gov/todays-faces-sickle-cell-disease/jennelle-stephenson

Kobojunkie:
Now you can all marry for love again, and not for genotype!

Please o!

Let people be continually careful and intentional.

The treatment is not moimoi.

bukatyne:
Please o!Let people be continually careful and intentional.
The treatment is not moimoi.

Wait... are you suggesting that people should avoid the cure?

You posted without indicating the cost.

MasterJayJay:

You posted without indicating the cost.

What cost? This thread is to create awareness of what is already available

Can you let people know how much money going this route will cost ? .
Majority of us are not wealthy

Good news. I can only imagine the amount of goat meat and yam our forefathers must have given to the African gods for bribery to take sickle cell away from marriages.

...
Another challenge is the cost of sickle cell treatments. There are elevated medical costs associated with the disease at around $1 million for patients who reach 45 years, with annual costs of $10,000 for children and $30,000 for adults. These costs may cause some patients to discontinue treatment.

Another highlight of the report is the assessment of how mortality rates among children with SCD decreased 3 percent annually between 1979 and 2005, but increased 1 percent annually for adult patients during that same time.

“There is a dramatic increase in the healthcare needs of people with sickle cell disease as they move into their 20s and 30s,” Thompson said. “Those who are living into adulthood are surviving longer, but their quality of life could be vastly improved.”

To tackle these issues, ASH recommends that all healthcare providers implement standard-of-care (SoC) guidelines and develop new resources to help physicians. Coordinated models also help ensure consistency of care around the country. In addition, adequate physician training and education are important to transition patients from childhood to adult care and increase the use of hydroxyurea in appropriate situations.

ASH partnered with patient advocacy groups, researchers, industry stakeholders and policymakers to announce the launch of the Sickle Cell Disease Coalition, aimed at improving the quality of SCD care worldwide.

“We recognize there are extraordinary opportunities that seem to be coming together right now, and it is going to be absolutely critical that we unify these opportunities to take maximum advantage and facilitate improvements in treatment for people with this disease,” Thompson added.

[url=https://sicklecellanemianews.com/2016/11/01/report-highlights-challenges-sickle-cell-disease-treatment-access-care/#:~:text=Another%20challenge%20is%20the%20cost,some%20patients%20to%20discontinue%20treatment.] Read On...[/url]

How cheap will this be?

SirToothBrush:
How cheap will this be?

I am afraid i don't know that.

CharlesJok3r:
Can you let people know how much money going this route will cost ? .
Majority of us are not wealthy

Google abeg! Or you can email the hospitals involved.

There is a cure for sickle cell anemia out there.

$1m is like N700,000,000. Very affordable for people! They should indeed marry for love....a very expensive love.

By John Eligon and Ismail AlfaPhotographs by KC Nwakalor
Dec. 21, 2021
KANO, Nigeria — The hip pain from sickle cell disease was so intense that Sadiya Haruna, age 9, could not walk, so she rode on her sister’s back. She settled among dozens of children and mothers on a concrete bench outside a clinic here in northern Nigeria.

Her anguished mother, Mariya Haruna, sitting beside her, had already seen sickle cell squeeze the life out of three of her daughters. She was frightened that Sadiya was hurtling toward the same fate.

Sadiya’s mother was determined to ease her daughter’s bouts of agony, caused by crescent-shaped — or sickled — blood cells clogging her vessels. And she hoped the staff of the pediatric sickle cell unit at Murtala Mohammed Specialist Hospital in Kano would have answers. As a public hospital, it is the only place many families can afford to take their children to get treated for a disease that can cause severe pain, organ failure and strokes.

As Sadiya waited to be seen on a sweltering July day in 2019, families filed into the clinic. In one corner, nurses scribbled down patients’ vital information. In another, children tested their motor skills — hopping on one foot, holding out their arms. In yet another, a doctor, sitting in a torn office chair, evaluated children with bloated stomachs, flaccid limbs and labored breathing.

The clinic represents progress in battling the disease in Nigeria. Thirty years ago, a single nurse ran it. Now there is a staff of seven.

Just three years ago, nurses still used mercury thermometers and had no equipment to take basic information like a child’s blood pressure. Thanks in part to philanthropic funding and research, a better-trained staff now collects those vital signs and has equipment to detect whether a child is at high risk of suffering a stroke.

“When you compare what we offer sickle cell patients to what a lot of other hospitals offer, we have gone very far,” said Dr. Safiya Gambo, the head of pediatrics at Murtala Mohammed.

Still, there are not nearly enough doctors to provide individualized care to the roughly 18,000 pediatric sickle cell patients who are enrolled there. And the children’s fate often depends on relatively inexpensive drugs that families often struggle to afford, and screenings and treatments that can be difficult to access.

Africa is the global epicenter of sickle cell disease, a genetic blood disorder that, while relatively rare, is devastatingly familiar across the continent. In Nigeria, where research suggests sickle cell is most prevalent, roughly 150,000 children are born with the disease each year. In the United States, in contrast, about 100,000 people suffer from it, most of whom have African ancestry.

In this oil-rich nation, plagued by underinvestment in health care and deep income inequalities, doctors and nurses battle to keep children alive. Nearly one out of two children in Nigeria with sickle cell dies before his or her fifth birthday, according to a study in The Lancet in September that examined births and deaths from 2003 to 2013. Researchers estimated that 35,000 children under 5 died from sickle cell each of those years.

Simply screening all newborns for sickle cell could greatly reduce premature deaths — but such tests remain rare in Nigeria and across Africa. Likewise, a 12-cent-a-day regimen of three drugs could slash the death toll, but that, too, is often out of reach in Nigeria, where two out of five people live on less than $1.90 per day.

On the other hand, the United States, one of the world’s wealthiest nations, has the technologies and capacity to better care for people with the disease. And life expectancies for them have improved in recent decades, as Americans with the disease live into their 50s. Still, the American health care system, marred by stark racial inequities, often fails to provide basic care for people with sickle cell.

“The disparity in survival in sickle cell patients in high-income versus low-income countries is injustice,” said Dr. Shehu Abdullahi, an associate professor of pediatrics at Aminu Kano Teaching Hospital and Bayero University in Kano.

The inconsistent income that Sadiya’s parents earn is not always enough to pay for her medical needs. The family sometimes has to choose medicine over food. During almost weekly pain crises, she wails through the night and struggles to walk. Her mother worries that she may end up like the daughters she lost at ages 9, 7 and 6.

“I’m always scared whenever she says she’s sick,” said Ms. Haruna, 46. “I feel like she’s going to die like the other ones.”

Prevalent but overshadowed

The disease seemed to strike their daughters out of nowhere. [b]Khadija, 9, had suffered a fever for a few days. It didn’t seem severe until she closed her eyes forever on a Friday in 2003.

Two months later, 7-year-old Sadiya was sucking on sugar cane one morning and seemed to be recovering from a fever. But her temperature suddenly spiked, and she was gone before her parents could get her to the hospital. (Her parents gave her name — and those of their other daughters who died — to daughters they have since had.)

Five years after that, Aisha, 6, was at Murtala Mohammed for a mild fever and doctors ordered her to get a blood transfusion. The hospital was full, and she succumbed on the way to another one.

Accurate data on the prevalence and deadliness of sickle cell in Nigeria and other African countries is scarce — but the disease’s devastation is clear in experiences like these. Most newborns are not screened for the disease because of cost and logistical challenges, said Dr. Obiageli E. Nnodu, the director of the Center of Excellence for Sickle Cell Research and Training at the University of Abuja in Nigeria.

Those who suffer from sickle cell are often stigmatized. And it is also often overshadowed by other devastating diseases including malaria, H.I.V. and pneumonia.

“I’m sorry to say, sickle cell disease, nobody wants to pay any attention,” said Hadiza Danisa, a nurse who ran the sickle cell clinic at Murtala Mohammed from 1991 until retiring this year.

Yet for Ms. Danisa and her staff, sickle cell has become their lives — two nurses continued going to the clinic during the strict pandemic lockdown so they could provide care.

Sadiya was a year old when her parents first took her to be screened there and has returned ever since for her regular medical care.

The benefits of early screening are clear.

Dr. Nnodu recalled two babies born around the same time last year at a hospital in Abuja. Both were screened and found to have sickle cell. One family accepted treatment, while the other insisted their child was not sick.

The child who received care celebrated her first birthday in October. The other baby died within weeks.

Reasons for hope
Ten years ago, Dr. Michael R. DeBaun, a professor of pediatrics at Vanderbilt University who specialized in treating strokes in children with sickle cell, visited Nigeria at the invitation of a Nigerian-born pediatrician. During a two-day retreat for girls with sickle cell, Dr. DeBaun determined that six of them had suffered a stroke.

“We were devastated and really said, ‘We have to figure out a way to address this problem in a systematic way,’” Dr. DeBaun said.

That was the spark for three years-long studies initiated in Kano. They established that the risk of strokes was greatly reduced in children with sickle cell if they took a moderate daily dose of hydroxyurea, an inexpensive, generic chemotherapy drug.

The studies, funded by the National Institutes of Health, helped persuade the state governments of Kano, Kaduna and Katsina to provide free hydroxyurea to children with sickle cell at high risk for strokes. The drug is made in Nigeria, by Bond Chemical, which started producing it several years ago as a less expensive alternative to foreign imports.

The studies also brought a vital resource to the region: Dr. DeBaun’s team provided 18 Transcranial Doppler ultrasound machines to several medical facilities. The devices, rare in Nigeria, have long been used in the United States to detect high-risk stroke patients, though the American medical system often fails to screen children who need them.

In Nigeria, there is now more hope for detecting the disease early. New, easily administered blood screening tests that require only a finger prick and cost less than $2 each have brought the possibility of testing every newborn for sickle cell disease closer to reality.

There are also efforts to prevent the births of children with the disease.

Increasingly, Nigerians are being urged to get a simple blood test that can inform them whether they carry the mutation to a single gene that puts them at risk of passing on the disease to their children. If both parents carry the mutation, there is a one in four chance that their children will inherit it from both parents and have sickle cell disease.

It’s common for Nigerians to consider whether a potential romantic partner has the mutation before moving forward with a relationship. Many clinicians and religious leaders discourage marriages of people who both carry the sickle cell trait. Some states have passed laws requiring couples to get genetic testing before they are married.

And in some clinical settings, the training and technology for treating children with sickle cell have vastly improved.

Murtala Mohammed has access to two Transcranial Doppler ultrasound machines because of Dr. DeBaun’s study, and nurses are now trained to detect strokes through physical exams. Through the ultrasounds and physical exams, nearly 650 children since 2016 have been identified as at high risk for strokes or as having had one and been placed on hydroxyurea.

But significant challenges remain.

Sadiya, now 11, arrived at the clinic with her mother last month for a routine checkup and treatment of her leg, which was hurting badly. They got in line with about 50 other families. Nearly two hours later, she was finally able to see a nurse.

In the United States, sickle cell patients with pain as intense and chronic as Sadiya’s are routinely given narcotics and prescribed hydroxyurea, which has been shown to reduce pain episodes.

But at Murtala Mohammed, most children who get hydroxyurea are at high risk of stroke — which Sadiya is not. There aren’t enough doctors to prescribe the drugs more widely, and to monitor the dosage and impact on patients. And patients’ histories are difficult to track because medical records are handwritten and kept in green file folders.

“No matter how well meaning the families are and how dedicated the staffs are, there’s a resource limitation that cannot be overcome,” said Dr. DeBaun, who is working to increase the capacity to treat children with sickle cell in Kano through Vanderbilt’s fund-raising efforts.

So the advice that Sadiya’s mother got last month was to take her daughter to an orthopedist, which she had already done, and give her ibuprofen.

A family’s fight

Sadiya’s Islamic school was throwing a celebration of Mawlid, the birth of the Prophet Muhammad, and she could not have been more excited. She put on a purple wrap dress with gold and blue diagonal stripes bought for the occasion. She painted her hands and feet with henna. She was bright and buoyant and ready to go.

But when the time came to leave, Sadiya trembled in her room. A pain crisis had struck.

“That is all! The day is over for my innocent daughter!” Ms. Haruna recalled exclaiming on that day in November.

And so began another struggle to get Sadiya’s pain under control.

Two years ago, Sadiya was coming off an eight-month hospital stay, with pain so bad that she hadn’t walked in a year. Her challenges remain.

One moment she is joking and bouncing around with her siblings. The next she is writhing in agony, her mouth in a frown, her lips twitching. She walks with a limp.

Caring for her is a family enterprise.

When pain crises hit, her mother and siblings drop what they are doing to massage her, give her medicine — and sometimes rush her to the emergency room.

The family’s modest concrete home, built around a small courtyard, is nestled along a narrow dirt road on the western end of Kano, a sprawling metropolis of four million people.

The family had long struggled to pay for Sadiya’s medical care, and it has only gotten harder because of the pandemic. Her father, Haruna Aliyu, 60, lost his stable income selling kerosene and now makes a meager living loading trucks. Her mother sells clothes and picks up odd jobs. Her older brother, Abubakar Aliyu, moved to Dubai, where he cares for parrots on a farm to make money to send home.

Sadiya has been prescribed the 12-cent-a-day, three-drug regimen that is standard for children with sickle cell in Nigeria: folic acid, penicillin and an anti-malarial. But she sometimes misses doses when money runs out, especially when she is taken to the E.R. and needs painkillers, lab tests and other treatments the family can’t afford. Her parents have held off on getting surgery on her leg, recommended by orthopedists, in part because of the cost.

“I dare not stay idle or risk losing my beloved daughter,” Ms. Haruna said. “We owe her this responsibility as parents.”

Ms. Haruna, an observant Muslim who wears a gentle expression, is strong willed and optimistic, constantly referring to God’s grace when discussing Sadiya’s condition. Yet she has no illusions about the toll of sickle cell. When her husband said during an interview that he wanted to have more children, she firmly said that they would not.

“My mother’s condition worries me a lot because every ounce of strength in her has been drained both financially and emotionally because of my sibling’s health condition,” said Zaliha Haruna, 20.

So Zaliha has decided to take up some of the burden: She’s studying to be a nurse.

“Sadiya is a strong and brilliant girl with a positive mind,” Zaliha said, sobbing. “But she always falls sick and suffers a lot. I assume she is going to die, too.”

For now, Sadiya enjoys the little things in life. She watered a plant in a patch of dirt in the family’s courtyard one-afternoon last month. “I like flowers,” she said smiling, adding what she hoped for out of life:

“I just want to be all right.” Sickle Cell in Nigeria

The only cure for sickle cell is for you to kys and stop living like a forking c0ck sucker