Signs That Chronic Heart Failure Is Getting Worse
The Top 10 Deadliest Diseases
Conditions such as heart disease, stroke, and respiratory infections account for the majority of deaths each year around the world. Some preventive measures may help lower your risk.
When people think of the deadliest diseases in the world, their minds probably jump to the fast-acting, incurable ones that grab headlines from time to time. However, many of these types of diseases don't rank in the top 10 causes of worldwide deaths.
An estimated 55.4 million people passed away worldwide in 2019, and 74% of these deaths were because of noncommunicable diseases, or chronic conditions that progress slowly.
Perhaps even more surprising is that several of the deadliest diseases are partially preventable. Non-preventable factors include where a person lives, access to preventive care, and quality of healthcare, all of which factor into risk.
But there are several steps that everyone can take to lower their risk.
Read on to see 10 of the deadliest diseases worldwide.
The deadliest disease in the world is coronary artery disease (CAD).
Also called ischemic heart disease, CAD occurs when the blood vessels that supply blood to the heart become narrowed. Untreated CAD can lead to chest pain, heart failure, and arrhythmias.
Impact of CAD across the worldAlthough it's still the leading cause of death, mortality rates have declined in many European countries and in the United States.
This may be because of better public health education, access to healthcare, and other forms of prevention. However, in many developing nations, mortality rates for CAD are on the rise.
An increasing life span, socioeconomic changes, and lifestyle risk factors play a role in this rise.
Risk factors and preventionRisk factors for CAD include:
Talk with a doctor or healthcare professional if you have one or more of these risk factors.
You can prevent CAD with medications and by taking steps to improve heart health. Some of the ways you can decrease your risk include:
A stroke occurs when an artery in your brain is blocked or leaks. This causes the oxygen-deprived brain cells to begin dying within minutes.
During a stroke, you feel sudden numbness and confusion or have trouble walking and seeing. If left untreated, a stroke can cause long-term disability.
In fact, strokes are the leading cause of long-term disabilities. People who receive treatment within 3 hours of having a stroke are less likely to have disabilities.
The Centers for Disease Control and Prevention (CDC) reports that one survey found that 93% of people knew sudden numbness on one side was a symptom of stroke. However, only 38% knew all the symptoms that would prompt them to look for emergency care.
Risk factors and preventionRisk factors for stroke include:
Some risk factors of strokes can be lowered with preventive care, medications, and lifestyle changes. In general, good health habits can lower your risk.
Stroke prevention methods may include controlling high blood pressure with medications. You should also maintain a healthy lifestyle, complete with regular exercise and a balanced diet that's low in sodium.
If you smoke, consider quitting and drink only in moderation, as these activities increase your risk of stroke.
A lower respiratory infection is an infection in your airways and lungs. It can be due to:
Though viruses usually cause lower respiratory infections, they can also be caused by bacteria.
Coughing is the main symptom of a lower respiratory infection. It may produce blood sputum. You may also have a fever, sweating, or chills or experience breathlessness, wheezing, and a tight feeling in your chest.
Risk factors and preventionRisk factors for lower respiratory infection include:
One of the best preventive measures you can take against lower respiratory infections is to get the flu shot every year. People at high risk of pneumonia can also get a vaccine.
Be sure to wash your hands regularly with soap and water to avoid transmitted bacteria, especially before touching your face or eating.
If you have a respiratory infection, stay at home and rest until you feel better, as rest improves healing.
Chronic obstructive pulmonary disease (COPD) is a long-term, progressive lung disease that makes breathing difficult. Chronic bronchitis and emphysema are types of COPD.
In 2018, about 16.4 million people in the United States reported a diagnosis of any type of COPD.
Risk factors and preventionRisk factors for COPD include:
There's no cure for COPD, but its progression can be slowed with medication.
The best ways to prevent COPD are to stop smoking, if applicable, and avoid secondhand smoke and other lung irritants. If you experience any COPD symptoms, getting treatment as soon as possible improves your outlook.
Respiratory cancers include cancers of the trachea, larynx, bronchus, and lungs.
The main causes are smoking, secondhand smoke, and environmental toxins. However, household pollutions, such as fuels and mold, also contribute.
Impact of respiratory cancers around the worldA 2015 study reports that there are around 18 million new cases of lung cancer annually. In developing countries, researchers project an 81% to 100% increase in respiratory cancers because of pollution and smoking.
Many Asian countries, especially India, still use coal for cooking. Solid fuel emissions account for 17% of lung cancer deaths in males and 22% in females.
Risk factors and preventionTrachea, bronchus, and lung cancers can affect anyone, but they're most likely to affect those who have a history of smoking or tobacco use.
Other risk factors for these cancers include family history and exposure to environmental factors such as diesel fumes.
Aside from avoiding fumes and tobacco products, it isn't known if there's anything else that can be done to prevent lung cancers. However, routine lung scans and early detection can result in more effective treatment and an improved outlook.
Diabetes is a group of diseases that affect the production or use of insulin.
In type 1 diabetes, the pancreas is unable to produce insulin. This type of diabetes is believed to be caused by an autoimmune reaction.
In type 2 diabetes, the pancreas doesn't produce enough insulin, or insulin can't be used effectively. Type 2 diabetes can be caused by a number of factors, including poor diet and physical inactivity.
Impact of diabetes around the worldOver time, uncontrolled diabetes can cause damage to the nerves and blood vessels. This can lead to complications such as impaired wound healing, kidney failure, and blindness.
People in low- and middle-income countries are more likely to die of complications from diabetes because of limited access to medications and technologies needed to manage blood sugar levels.
Risk factors and preventionRisk factors for diabetes include:
While diabetes isn't always preventable, you can control the severity of symptoms by exercising regularly and following a well-rounded, nutritious diet. Adding more fiber to your diet can also help with controlling blood sugar levels.
Alzheimer's disease is a progressive disease that destroys memory, interferes with decision making, and interrupts normal cognitive functions. These include thinking, reasoning, and other everyday behaviors.
Alzheimer's disease is the most common type of dementia and accounts for about 60 to 70% of cases.
The disease starts off by causing mild memory problems, difficulty recalling information, and slips in recollection. Over time, however, the disease progresses, and you may not have memory of large periods of time.
Risk factors and preventionRisk factors for Alzheimer's disease include:
There's not currently a way to prevent Alzheimer's disease, and researchers aren't sure why some people develop it and others don't. As they work to understand this, they're also working to find preventive techniques.
One thing that may be helpful in lowering your risk of the disease is following a healthy diet. In fact, some research suggests that eating plenty of fruits, vegetables, whole grains, heart-healthy fats, and legumes could support brain function and prevent cognitive decline.
Diarrhea is when you pass three or more loose stools in a day. If your diarrhea lasts more than a few days, your body loses too much water and salt. This causes dehydration, which can be fatal in severe cases.
Diarrhea is usually caused by an intestinal virus or bacteria transmitted through contaminated water or food. It's particularly widespread in areas with poor sanitary conditions.
Impact of diarrheal diseases around the worldDiarrheal disease is the second leading cause of death in children younger than 5 years old. About 525,000 children die from diarrheal diseases each year.
Risk factors and preventionRisk factors for diarrheal diseases include:
The best method of prevention is practicing good hygiene. Handwashing, improved sanitization and water quality, and access to early medical treatment can also help prevent diarrheal diseases.
TB is a lung condition caused by bacteria called Mycobacterium tuberculosis. It's a treatable airborne bacterium, although some strains are resistant to conventional treatments.
TB is one of the top causes of death in people who have HIV. Furthermore, people who have HIV are 18 times more likely to develop active TB.
Impact of TB around the worldThe cases of TB have fallen 2% each year between 2015 and 2020.
One of the targets of the United Nations Sustainable Development Goals is to end the TB epidemic by 2030.
Risk factors and preventionRisk factors for TB include:
The best prevention against TB is to get the bacillus Calmette-Guerin vaccine, which is commonly given to infants and children in areas where TB is common.
If you think you've been exposed to TB bacteria, a doctor can prescribe preventive medications (chemoprophylaxis) to lower the likelihood of developing an active infection.
Cirrhosis is the result of chronic or long-term scarring and damage to the liver. The damage may be the result of a kidney disease, or it can be caused by conditions such as hepatitis, alcoholic liver disease, or nonalcoholic fatty liver disease.
A healthy liver filters harmful substances from your blood and sends healthy blood into your body. As substances damage the liver, scar tissue forms. As more scar tissue forms, the liver has to work harder to function properly and may eventually stop working.
Risk factors and preventionRisk factors for cirrhosis include:
Moderating alcohol intake can help prevent liver damage and cirrhosis.
Likewise, you can prevent nonalcoholic fatty liver disease by enjoying a nutritious diet rich in fruits and vegetables and low in sugar and fat.
Lastly, you can lower the likelihood of contracting viral hepatitis by using barrier methods each time you engage in sexual activity and by avoiding sharing anything that could have traces of blood such as needles, razors, or toothbrushes.
How many rare diseases are there?A rare disease is usually defined as a disease or condition that affects fewer than 200,000 people in the United States.
According to most scientists and clinicians, there are around 7,000 different rare diseases. However, this estimate can vary from 5,000 to 8,000 rare diseases, depending on the source.
It's believed that around 1 in 10 people in the United States, or around 30 million people in total, has a rare disease.
Some rare diseases are hereditary and can be passed from parent to child. Some may be visible from birth, while others might show up later in life.
Which disease has no cure?There's no known cure for many conditions, including several on the list of the deadliest diseases.
This also includes conditions such as cancer, Alzheimer's disease, multiple sclerosis, and muscular dystrophy.
In many cases, certain lifestyle factors, such as smoking cessation and modifying your diet or exercise routine, may lower the risk of developing some of these conditions.
In other cases, a combination of lifestyle changes, medications, and other treatment methods might help manage or reduce symptoms of a condition, though it may not necessarily cure it.
What's the deadliest disease?Ischemic heart disease is the leading cause of death around the globe. Other conditions, such as stroke, COPD, lower respiratory infections, and respiratory cancers, also account for a significant portion of deaths each year.
While deaths from certain diseases have increased, those from more serious conditions have also decreased.
Several factors, such as an increasing life span, naturally increase the prevalence of age-related diseases such as CAD, stroke, and heart disease.
However, many of the diseases on this list are preventable and treatable, and as medicine continues to advance and prevention education grows, we may see improved outcomes for many of these diseases.
A good approach to lowering your risk of any of these conditions is to follow a balanced diet, live a healthy lifestyle, and stay active.
Moderating your alcohol intake and quitting smoking, if applicable, can also help.
For bacterial or viral infections, proper handwashing can help prevent or lower your risk.
His Sickle Cell Disease Brought Agony. Gene Therapy Is Bringing Hope.
The Washington Post 23 hrs ago Carolyn Y. Johnson
DACULA, Ga. — For as long as he can remember, Jimi Olaghere felt he was destined to be a father. "It's so true in my soul," he told his wife, Amanda, when they struggled to get pregnant. But when they were finally expecting a baby boy in 2019, joy was tinged with despair.
For 34 years, sickle cell disease had been hammering Jimi's body and stealthily shredding his ambitions. He knew it would come for his dream of being a dad, too.
Inside Jimi, normally pliable, disc-shaped red blood cells deformed into rigid crescents. Those microscopic sickle-shaped cells clumped together, unleashing a cascade of damage. Pain was a constant, but about once a month it erupted into pure agony — like glass had shattered inside his veins and shards were sawing back and forth.
How would monthly trips to the emergency room to manage his pain work with a newborn baby? Could he keep up with a toddler when everyday pain could keep him stuck in bed all day? Would he even live long enough to try?
"I knew sickle cell would win that battle as well," Jimi said. "It won everything — with my career, with education, with everything I wanted to do."
© Courtesy of the Olaghere family Jimi holds his son, Sebastian, at HCA Healthcare's The Children's Hospital at TriStar Centennial in Nashville, where Jimi received the experimental gene therapy, in 2020. Then, midway through Amanda's pregnancy, the couple read an article about Victoria Gray, a woman whose genes had been experimentally edited to treat her sickle cell disease. It was still too soon to know exactly how well it worked, but Jimi wanted in.
After decades of neglect, stigma and underfunding, sickle cell is getting the equivalent of the red carpet treatment in science. It's the target of a competitive biotech race, with scientists and companies using a crop of cutting-edge tools to try to cure the debilitating illness.
The first gene therapies for sickle cell, including one based on the buzzy, Nobel Prize-winning technique called CRISPR, will be reviewed by regulators this year, and companies are preparing to launch the medicines if they get the green light. That puts the country at the cusp of two frontiers: a new era in treating a tragically overlooked disease, and the beginning of what could be a CRISPR revolution in medicine.
© Courtesy of the Olaghere family Sebastian was born shortly before Jimi found out he qualified for the gene therapy trial. The family spent weeks living in the hospital while Jimi received treatment. It's a dramatic about-face for sickle cell patients, who have often felt abandoned by the medical system. The rare disease afflicts about 100,000 people in the United States, most of them Black. Racism at both the institutional and interpersonal level has stymied funding and alienated patients, who are often treated as drug-seekers when they show up in emergency rooms in acute pain.
"Of course there's skepticism. This is a disease that's been left to just succumb to the health-care system for so long, and suddenly this influx of money and parties and pharmaceutical companies [and] a whole staff of White folks want to come in and ask us about our disease," said Ashley Valentine, president of Sick Cells, a patient advocacy group that she founded with her brother Marqus, who died of a hemorrhagic stroke at age 36.
There are risks and unknowns with any new technology; one doctor told Jimi the magnitude of the challenge was comparable with landing on the moon for the first time. But the doctors, patients and others eager for sickle cell treatments say that turning gene editing into a viable therapy, then finding ways to make it widely accessible, will help carve a path for others to follow.
© Courtesy of the Olaghere family The family set up a playpen in the hospital. "The hope," said Valentine, "is that if the feds and governments and society can figure this out with sickle cell, they can figure this out with other diseases."
A long time comingDecades before Jimi was born, chemist Linus Pauling discovered the root of the problem in sickle cell disease: an atypical form of the oxygen-carrying hemoglobin protein inside red blood cells. He dubbed sickle cell the first "molecular" disease — a new paradigm that would shape biomedical research for decades.
Hard scientific work would fill in the rest of the story. The human genetic code is a string of 3 billion letters, each representing one of four molecular building blocks. Atypical hemoglobin is the result of a misspelling in one gene — a T where there should be an A. People with just one copy of the altered gene have "sickle cell trait." They live without major health symptoms, and even have an advantage: better protection against malaria. But people with two copies can experience devastating symptoms and die decades early.
© Lynsey Weatherspoon for The Washington Post Jimi with his wife, Amanda, and their children, from left: Eloise, Sebastian and Willow, in 2023. Jimi's parents had sickle cell trait. So did an older sister. But he had sickle cell disease. As a child growing up in Nigeria, it was hard to keep up with his friends' energy levels. The pain episodes would arrive at night, or after tough exertion. His parents used menthol rubs and over-the-counter painkillers to try to ease his discomfort, which was so intense he would pass out.
Eventually, Jimi moved to live with relatives in New Jersey so that he could take advantage of better medical care. At a sickle cell support group, Jimi began to understand how deeply the disease infiltrated every aspect of daily life. It wasn't just hospitalizations and pain. A girl shared that she would eat random objects — a condition called pica that often accompanies the disease. He recognized his own tendency to scrounge chalk and rubbish to eat, which had always made him feel as if he were going crazy.
The disease often gets worse as patients get older, which tragically coincides with a medical cliff in the U.S. Health-care system. Children have parents and pediatric hematologists who are devoted to managing their disease. As adults, they have to coordinate their own care and are often treated very differently. Most people who have the disease in the United States are Black, and they are often met with suspicion and hostility, not compassion — when they show up in the emergency room in excruciating pain.
As he got older, Jimi's pain episodes became so frequent that they bled together in his memory. One time, his fever spiked so high that he lost consciousness. Jimi woke up in the intensive care unit a day later, disappointed to still be alive.
"There became a point of my life — I stopped going to the emergency room and started medicating at home," Jimi said. "I was just so embarrassed."
He suffered a heart attack in his 20s. He developed blood clots in his lungs. His hips sometimes ache because parts of the bone tissue in his joints died because of lack of oxygen delivery.
Until recently, there weren't many treatments for sickle cell disease. A bone-marrow transplant could cure it by providing patients with marrow that made normal hemoglobin, but a suitable match from a sibling could be found for only about 1 in every 5 patients. Then there's hydroxyurea, the first and only drug that was approved to treat sickle cell until 2017; three drugs have been approved since then. Hydroxyurea helps keep red blood cells from sickling, or deforming into a sickle shape, by increasing levels of a type of fetal hemoglobin that is switched off after birth.
© Lynsey Weatherspoon for The Washington Post Amanda shows a photo of Jimi and Sebastian when they were in the hospital for Jimi's treatment. 
© Lynsey Weatherspoon for The Washington Post The family at home in Dacula, Ga. Research into the disease gave scientists two main avenues for gene therapy. One would be to replace the gene or correct the genetic typo to restore normal hemoglobin production. Another would be to get the body to start pumping out fetal hemoglobin again.
The ideas were straightforward, but progress was slow. The field was underfunded, in part because the Black population historically lacks access to the intergenerational wealth, influence and privilege that fuels private philanthropy for rare-disease research. Even at the federal level, other rare diseases that cut short people's life spans — such as the lung disease cystic fibrosis — received triple the funding per person until the gap began to narrow in 2017.
"There's huge underinvestment," said Stuart Orkin, an expert in the field and professor of pediatrics at Harvard Medical School and the Dana-Farber Cancer Institute. "The NIH probably wouldn't like me to say this, but one of the goals of the National Heart, Lung and Blood Institute is to cure sickle cell disease. They certainly have not put the kind of resources into it that would be required."
© Lynsey Weatherspoon for The Washington Post Jimi holds Willow and Sebastian before an Easter egg hunt in March. Gary Gibbons, director of the NHLBI, pointed to data showing that federal funding for sickle cell research has doubled since 2010, and he highlighted the Cure Sickle Cell Initiative that was launched in 2018. "NHLBI is committed to improving the care and long-term survival for children and adults with sickle cell disease in the U.S. As well as other parts of the world," Gibbons said.
A turning point occurred when sickle cell became an attractive target for companies to invest in — as new gene therapy techniques reached prime time and better understanding of the disease clarified the best therapeutic strategies.
Fifteen years ago, scientists pinpointed a gene called BCL11A that worked like a dimmer switch, controlling the amount of fetal hemoglobin the body produced. When scientists shut it off, fetal hemoglobin expression turned back on. In 2011, Orkin's lab showed that it was possible to reverse sickle cell disease in mice by flicking the BCL11A switch.
© Lynsey Weatherspoon for The Washington Post Jimi helps the children during the egg hunt — an activity that did not seem possible for him before his gene therapy. At the same time, a growing array of gene therapy techniques gave scientists tools to flip genetic switches or insert new genes — kicking off a flurry of competing sickle cell cures. CRISPR, discovered in 2012, is being used to edit a key region of the BCL11A gene to turn fetal hemoglobin back on. Other approaches use a harmless virus as a kind of Trojan horse to insert a new version of the hemoglobin gene that resists sickling into a patient's stem cells. Yet another uses a specialized RNA molecule to silence BCL11A.
After years of little progress, there wasn't just one way to treat sickle cell — there were many.
"I have wanted to see this succeed for 40 years," said Francis Collins, the former NIH director whose postdoctoral research in the early 1980s was on sickle cell. "I thought we'd be lucky if in my lifetime, if we achieved even a single cure of someone for sickle cell disease."
© Courtesy of the Olaghere family The family outdoors in October 2020 — the first time Jimi was able to leave his room during weeks of treatment. 'Out of nowhere, I could tell it was gone' For most of his life, Jimi had a hard time envisioning the future. How many times had people told him he wouldn't live to see his 20th or 30th birthday? On his first date with Amanda, when they were in their early 20s, he put down the menu and told her he had sickle cell, and that he understood if that was a dealbreaker.
"I'm super competitive, and I said, 'I'll take it on,'" Amanda recalled, laughing. She went home and began Googling to learn more about the disease.
To manage Jimi's sickle cell, the couple forged a powerful partnership. They could handle anything together. But with a baby on the way, the stakes changed.
"I thought I was going to die," Jimi said. "I thought, 'I can't leave my wife with a son and not be here for them.'"
In November 2019, Jimi and Amanda flew to Nashville to meet with Haydar Frangoul, the pediatric hematologist leading a trial of a CRISPR gene therapy for sickle cell disease at Sarah Cannon Research Institute. They learned shortly after Christmas that Jimi qualified for the trial. Their son, Sebastian, had just been born. It felt like a gift.
From start to finish, Jimi's treatment would take the better part of a year. First, his stem cells needed to be collected from his blood. This required long car trips to Nashville and being hooked up to a machine for hours at a time. Once the researchers collected enough stem cells, they edited the cells to disable the BCL11A switch. Then the cells needed to be carefully checked for quality.
Jimi also needed chemotherapy to kill off existing cells in his bone marrow so that his edited stem cells would have room to engraft and grow. His hair fell out and he developed painful sores in his mouth.
Amanda, Jimi and baby Sebastian lived in the hospital for weeks, juggling remote work and the haze of starting their new family life. They set up a playpen in the hospital room. The nurses and doctors became like a second family. Jimi continued to run his e-commerce business from his hospital bed, while Amanda worked remotely, sometimes rushing to a nearby hotel room to do conference calls. Sebastian often napped next to his dad.
When Jimi's body was ready to receive the cells, the nurses brought three syringes into the room. Another participant in the trial had warned him: It will smell like creamed corn. Sure enough, the room filled with the aroma, due to a preservative used to freeze the cells. His parents watched through a live feed from Nigeria.
© Lynsey Weatherspoon for The Washington Post After years of being unable to sleep at night because of pain, Jimi says he now wakes up at 4:30 a.M. Full of energy. Jimi came home at the end of November 2020. As his new edited cells began pumping out fetal hemoglobin, he felt the disease depart.
"I had lived 35 years with this disease that sometimes I consider a companion, and out of nowhere I could tell it had gone — or was in the process of leaving. We were enmeshed together, and I could feel it detangling," Jimi said.
A year went by, and Jimi had no pain crises.
"We can plan in the future — like decades in the future now," Amanda said. They got pregnant again using in vitro fertilization, this time with twins.
'Carry your cure with you'Jimi is one of 31 participants whose results have been made public in the sickle cell trial run by Vertex Pharmaceuticals and CRISPR Therapeutics. None have had pain crises since their treatment, according to data through February 2022, though at that time, only 11 patients had been followed for at least a year. The companies just finished submitting data to regulators, and the Food and Drug Administration is expected to make a decision on whether to approve the therapy as soon as this year. The therapy is also being tested in the related blood disease beta thalassemia.
Another trial run by Massachusetts-based company Bluebird Bio uses a different gene therapy approach. A patient's stem cells are removed, then a virus inserts a gene into them that codes for a non-sickling version of beta-globin, a component of hemoglobin. Bluebird has treated 50 sickle cell patients, six of whom have been followed for six years, and submitted its data to regulators in April. The company has announced it could roll out the therapy in 2024.
© Lynsey Weatherspoon for The Washington Post Jimi holds Eloise as the children play at home. The beauty of gene editing for sickle cell is that it takes a lot of the luck out of the equation. People don't have to count on finding a bone marrow match. They also don't have to worry about a dangerous complication that can occur when cells transplanted from another person attack the recipient's own tissues.
"You carry your cure with you, basically," the Sarah Cannon Research Institute's Frangoul said.
But the challenges of turning an intensive therapy into an accessible medicine are formidable. For instance, chemotherapy is not only time-intensive and unpleasant, but it also causes infertility, meaning patients must have the ability to put their lives on hold for the treatment and have the time and resources to make long-term plans about future reproductive choices.
The first gene therapies for sickle cell will be a turning point, but it will take years — and many millions of dollars — to reach even a fraction of the patients who could benefit. Jimi did not have to pay for his treatment because it was part of a clinical trial, and the companies have not yet announced the price tag. A draft report by the Institute for Clinical and Economic Review, a nonprofit that examines whether drugs merit their prices, found that charging $2 million per treatment could be cost-effective for patients with severe disease, leading to health gains and lifetime opportunities.
Already, the success of the front-runners is winnowing out competition, as some companies drop their sickle cell gene therapy programs. The trend disappoints scientists who worry that a winner-takes-all model will leave important scientific questions unsettled about which approach is superior.
Jimi says he feels like he's cured, though he knows it isn't the correct word. Frangoul will follow Jimi and other patients for 15 years to track their health and monitor them for side effects.
Two patients in Bluebird's trial developed acute myeloid leukemia and died; extensive studies found that the cases were not likely to be related to the insertion of the new gene.
If both of the therapies being submitted are approved, they probably will be limited to severely ill people at first. Vertex officials estimate there are about 25,000 people in the United States in that category, and they have outlined plans to partner with 50 treatment centers in the United States and 25 in Europe.
"I'm excited — but I don't expect to see my job different two years from now because we have a gene therapy," said John J. Strouse, a hematologist at Duke University School of Medicine who treats adult sickle cell patients.
Frangoul said the questions of access and insurance coverage already worry him. He recalled the early days of bone marrow transplants to treat sickle cell, when he would write appeal after appeal to insurers to try to get the novel procedure covered.
Jennifer Doudna, the biochemist at the University of California at Berkeley who shared the Nobel Prize for discovering CRISPR, said that she anticipates feeling "sheer joy" when the first CRISPR therapy is approved, but also urgency.
A nonprofit she founded, the Innovative Genomics Institute, is working on a different CRISPR therapy to correct the genetic typo in sickle cell disease. Institute leaders also hope to pioneer a less-conventional business model in which creative partnerships between industry, government, academia and nonprofits could lead to new ways to price very expensive drugs for rare diseases.
"I think it's going to make me feel even more motivated," Doudna said. "People need this therapy, right? And … people can't pay millions of dollars for it."
A new lifeAfter Jimi's treatment, he had a different kind of crisis: Who am I without sickle cell?
After a lifetime of constant pain, it was disconcerting to have none. He felt guilty for not being elated that he was finally well, but he mourned the years of lost potential that he had spent as a prisoner of sickle cell.
"The physical toll of the disease sickle cell itself doesn't compare to the emotional vacuum it creates," he said.
At the same time, he looks at his life now with a bit of wonder.
He stands a little taller, and he no longer wears glasses to obscure his eyes, which were severely jaundiced because of the disease. After years of being unable to sleep at night because of pain and taking naps during the day, he wakes up at 4:30 a.M. Feeling like he chugged a Red Bull. He meditates, works, then wakes his twin daughters, Eloise and Willow, and gives them breakfast. The soundtrack in his household is kid-friendly songs and discussions of dinosaurs.
"To me, it still feels special — the amount of energy I have," he said.
The story doesn't end with him. Some of Jimi's relatives in Nigeria have sickle cell disease. Three of Jimi's children are carriers of the sickle cell trait. He wants to make sure other people with sickle cell have the opportunity to free themselves from the disease — not only the patients in the United States, but also the 20 million people in the rest of the world, many of them in sub-Saharan Africa, India and the Middle East.
Extending gene therapies to more populations will require big leaps in science. A major quest is on to invent ways to deliver gene therapies without an intensive bone marrow transplant. And Jimi wants people in the next generation, regardless of where they live, to have the opportunity to grow up without the shadow of illness.
"If by God's grace we cure 100,000 people [in the United States], that's not even a fraction of the people that actually suffer with the disease in West Africa, India and all those regions where it's quite prevalent," Jimi said. "Most of my advocacy is shining a light to all of these places that … are still in the background for now."
What Is Motor Neuron Disease?
Motor neuron disease (MND) refers to a group of rare but severe neurodegenerative diseases in which motor nerves in the spine and brain lose function over time. Early signs include weakness and slurred speech.
Motor neurons are nerve cells that send electrical output signals to the muscles, affecting the muscles' ability to function.
Motor neuron disease (MND) can appear at any age, but the symptoms usually appear after the age of 50 years. It affects more males than females. The most common type of MND is amyotrophic lateral sclerosis (ALS).
The renowned English physicist Stephen Hawking lived with ALS for many decades until his death in March 2018. The American baseball player, Lou Gehrig, also had ALS. This resulted in people calling it Lou Gehrig's disease.
There are several types of MND. Doctors classify them according to whether they are hereditary or not, and which neurons they affect. The types include:
Motor neurons instruct the muscles to move by passing on signals from the brain. They play a role in both conscious and automatic movements, such as swallowing and breathing.
Experts believe that around 10% of MNDs are hereditary. The other 90% develop randomly.
The exact causes are unclear, but the National Institute of Neurological Diseases and Stroke reports that genetic, toxic, viral, and other environmental factors may play a role.
The different types of MND cause similar symptoms and have three stages: early, middle, and advanced. The diseases progress at different speeds and vary in severity.
Early stage signs and symptomsIn the early stage of MND, symptoms develop slowly and can resemble those of other health conditions. The specific symptoms depend on the type of MND and the area of the body it affects.
Typical symptoms begin in one of the following areas:
They can include:
As the condition progresses, the early symptoms become more severe. People may also experience:
A 2017 study suggests that up to half of people with ALS experience brain involvement, including memory and language problems. It also reports that around 12–15% of people with ALS develop dementia. Some people also experience insomnia, anxiety, and depression.
Advanced stage signs and symptomsEventually, a person with advanced ALS needs help moving, eating, breathing, or a combination of these. The disease can become life threatening, and breathing problems are the most common cause of death.
MND can develop in adults or children, depending on the type. These diseases are more likely to affect males than females. Inherited forms may be present at birth. However, MND symptoms are most likely to appear after the age of 50 years.
The different types appear to have some different risk factors. SMA, for example, is always hereditary, but this is not true for all forms of MND. Around 10% of ALS cases in the United States are hereditary.
Also, the National Institute of Neurological Diseases and Stroke observes that veterans appear to have a 1.5 to 2.0 times higher chance of developing ALS than nonveterans. This may indicate that exposure to certain toxins increases the risk of ALS.
In addition, a 2012 study found that professional football players have a higher risk of dying from ALS, Alzheimer's disease, and other neurodegenerative diseases, compared with other people. Experts think that this could indicate a link with recurrent head trauma.
Doctors often find it difficult to diagnose MND in the early stages, as it can resemble other conditions, such as multiple sclerosis.
If a doctor suspects that someone has MND, they will refer them to a neurologist, who will take a medical history and do a thorough examination. They may also ask for tests, such as:
The medical team monitors the person for some time after the tests before confirming that they have MND.
There is no cure for MND, but treatment may slow the progression and maximize the person's independence and comfort. Medications, supportive devices, and physical therapy can help.
The choice of treatment depends on factors such as:
Drugs appear to be effective at slowing the progression of some types of MND. Examples include edaravone (Radicava) for ALS and nusinersen (Spinraza) and onasemnogene abeparvovec (Zolgensma) to treat SMA.
Muscle cramps and stiffnessMedications, such as botulinum toxin (Botox), can help. Botox injections can block the signals from the brain to the stiff muscles for about 3 months at a time.
Baclofen (Lioresal), a muscle relaxer, may help ease muscle stiffness, spasms, and yawning. A doctor can surgically implant a small pump to deliver regular doses to the space around the spinal cord. From there, the drug reaches the nervous system.
Some people may also find that physical therapy helps alleviate cramps and stiffness.
Pain reliefA nonsteroidal anti-inflammatory drug, such as ibuprofen (Advil, Motrin), can help with mild to moderate pain from muscle cramping and spasms.
A doctor may prescribe stronger pain relief medications for severe joint and muscle pain in more advanced stages.
Other optionsScopolamine is a medication that may help with drooling, and the body can a
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