WINTER 2020 MedlinePlus NIH MAGAZINE Trusted Health Information from the National Institutes of Health

IN THIS ISSUE Acid Reflux, Heartburn, and GERD: What’s the Difference? New Treatment Options for Vitiligo A Mother-Daughter Journey with Endometriosis

PLUS Tips for Cancer Survivors Recognizing National Donor Day

COVER STORY Recording artist and Broadway actress Jordin Sparks shares her family experience with SICKLE CELL DISEASE NLM provides largest medicallibrary. informatics anddatascience research andtheworld’s (NLM) atNIHisaleaderinresearch inbiomedical institutes of Medicine andcenters. TheNationalLibrary premier medicalresearch agency The NationalInstitutes ofHealth(NIH)isthe WHO WEARE Thanks forreading! magazine.medlineplus.gov you atmedlineplus.gov andinthis magazine.Visitus at In thisissue discuss key advances in bone marrow treatment advancesinbonemarrow discuss key National Heart, Lung, andBloodInstitute. They andJohn Tisdale,M.D., Diseases, oftheKidney andNational Institute andDigestive ofDiabetes M.D.,Rodgers, whoisalsothedirector ofthe withGriffinsickle cellbranch inourinterview aboutthecondition. openly especiallythosewhoare afraid toothers, talk to advocate ledher stepsister for losingher how family.disease’s impactonher Sheexplains actress Jordin Sparkstalksto usaboutthe and Hispanic Americans. people intheU.S., particularlyAfricanAmericans painful red blood cell conditionthataffects100,000 withyou. news Institutes ofHealth (NIH)research andhealth sharingupdates National onkey decade—by We alsoshare aresearch update from NIH’s Multiplatinum recording artistandBroadway In thisissue,wetake alookatsicklecelldisease, We’re excited year—and to ringinthenew new free, trusted health information 2020! MedlinePlus magazineissueof W elcome to thefirstNIH , with27 different nation’s to to 508-907-7000 Phone [email protected] Email CONTACT US @NLM_News Follow usonTwitter nationallibraryofmedicine/ www.facebook.com/ Follow usonFacebook CONNECT WITHUS

sickle cell diseaseresearch atNIH. John Tisdale, M.D. andGriffin (left), M.D., Rodgers, oversee often goundiagnosed. often twocommonconditionsthatendometriosis, and additionalfeatures onheartburnand transition treatment; normal”after backto a“new survivorsasthey color inpatches; tipsforcancer autoimmune diseasethatcausesskinto lose breakthrough optionsforvitiligo,an treatment inresearch. and talkaboutnextsteps Other articlesinclude:updates onlong-term, Other

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IMAGES: COVER, TROY JENSEN; TOP, COURTESY OF NIH IMAGES: TOP, MATT MURPHY; RIGHT, ADOBE STOCK Information from the fromInformation the National Institutes National Institutes Trusted Health 24 18 12 08 FEATURES shares herlate stepsister’s experience withsicklecell disease. “American Idol”winnerandactress Jordin Sparks,pictured onthesetof Fnig self-confidence Finding endometriosis Improving Why Jordin Sparks wants What need you Heartburn: of Health acceptance with others acceptance with shares the powerPatient of options expensive aim toStudies find easier, less herand honoring late stepsister stigma Singer discussesremoving and with your healthcareprovider How to on manage symptoms your own with vitiligo with vitiligo and awareness diagnosis through research sickle cell disease more peopleto talkabout to know

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12 6 survivors cancer Tips for

Number 4 Volume 14 WINTER 2020 to your NEWS, NOTES, & TIPS health FROM NIH

What happens when your thyroid doesn't work correctly? Hypothyroidism is the most common thyroid disorder

HEALTH TIPS January is National Thyroid Awareness Month, which brings attention to the small, butterfly- shaped gland in your neck. The thyroid does a lot for your body. It makes hormones that keep organs running properly. It also controls the way you use energy: for example, how you burn calories and how fast your heart beats. But sometimes this powerful gland doesn’t work like it’s supposed to. One common thyroid condition, called hyperthyroidism, causes the thyroid to make more hormones than the body needs. But the most common thyroid disorder is hypothyroidism, which affects about 4.6% of people in the U.S. This condition causes a lack of hormone, which leads the thyroid to slow down. People with hypothyroidism often gain weight and feel tired, but some may not have any symptoms at all. Hashimoto’s disease and hypothyroidism The most common cause of hypothyroidism is Other causes Hashimoto’s disease. It’s an autoimmune disorder, Other causes of hypothyroidism include thyroid surgery, meaning that the body’s own immune system attacks radiation treatment, some medications, and thyroiditis the thyroid and causes inflammation. This prevents (inflammation of the thyroid). Some people may be the thyroid from making enough hormones, born with hypothyroidism, which is known as congenital causing hypothyroidism. hypothyroidism. Hashimoto’s disease often runs in families, and it affects Women are more likely to have hypothyroidism, as women more than men. People with other autoimmune well as people older than 60 and people with other

diseases are also more likely to get Hashimoto’s disease. thyroid disorders. ADOBE STOCK IMAGE:

4 Winter 2020 NIH MedlinePlus National Donor Day Symptoms is February 14 A person with mild hypothyroidism might feel fine and have no symptoms. More than 113,000 people in the U.S. But those with symptoms can are waiting for organs experience a puffy face, sluggishness, weight gain, feeling cold, a slowed BY THE NUMBERS This Valentine’s Day, share the love and heart rate, constipation, depression, learn about organ donation. and thinning hair. Not everyone has Every year on February 14, National Donor Day raises the same symptoms, so make sure to awareness about the lifesaving benefits of organ, eye, talk with your health care provider if and tissue donation. you think you have hypothyroidism. It also celebrates those who have saved lives through the gift of donation. Diagnosis Organ donation takes the healthy organs and tissues of A doctor can diagnose hypothyroidism someone who has died and transplants them to people and help people manage it. waiting for lifesaving organs. There are no age limits on The doctor will ask about your who can donate, and even someone with an illness may symptoms, do a physical exam, be able to donate organs or tissue. and order blood tests. These tests If you want to become an organ donor or learn more measure your TSH, or thyroid about it, visit the national organ donor website at stimulating hormone, level and https://www.organdonor.gov antibodies. In Hashimoto’s disease, high levels of antibodies in the blood show that the thyroid is being attacked by the immune system. 113,000 + men, women, and If you have an enlarged thyroid children were on the national that’s causing hypothyroidism, called transplant waiting list in 2019. a goiter, your doctor may order an ultrasound to see it better. In rare cases, you might need surgery, since an enlarged thyroid can make it hard to swallow. 20 people die each day waiting Treatment for a transplant. Hypothyroidism can usually be treated with an oral medication called levothyroxine. Levothyroxine replaces a hormone naturally 1 donor can save 8 lives by produced by the thyroid gland to making vital donations of a regulate the body’s energy. If your doctor prescribes heart, lungs, liver, pancreas, levothyroxine, be sure to take it at kidneys, and intestines. the same time each day. Your doctor may need to test the level of TSH in your body a few times to make sure the medication 95% of U.S. adults support is working properly. TSH levels can organ donation but only 58% 58% change more during pregnancy, if are signed up as donors. you have heart disease, or if you take certain hormone therapies. T

SOURCES: MedlinePlus; National Institute of SOURCES: MedlinePlus; Health Resources and Services Administration Diabetes and Digestive and Kidney Diseases

Winter 2020 magazine.medlineplus.gov 5 Life after cancer: Tips for finding your new normal Strategies for survivors from survivors

HEALTH TIPS At the end of treatment, many cancer facts about your type of cancer and the chances of it survivors have mixed emotions: grateful for treatment returning. Just talking about your symptoms may help but happy to be done; excited to move on, yet scared, calm your fears. worried, or anxious about the future. Also make sure to write down your questions and Some people want to return to the life they were living anxieties as they come up. This can help you manage your the moment before their diagnosis; others reassess concerns and provide a useful list to help you manage what’s important and what’s next. your next follow-up. The National Cancer Institute (NCI) provides guidance However, if thoughts about cancer returning start to for coping with life after cancer and staying healthy— interfere with your daily life, you may want to reach out both physically and mentally. Below are a few key to a counselor or therapist who specializes in treating takeaways to help survivors and their loved ones prepare cancer survivors. for the next stage. Take care of your mind and body Talk to your health care team Eddie Harris, who was diagnosed with testicular cancer It’s likely that you already have a follow-up care plan, but at just 25 years old, says his number one suggestion is to if not, make sure to ask for one. There are also some surround yourself with a good group of people. additional things you and your care team can do. “It was important for me to let those in my inner circle Whether you’re worried about symptoms you’re know what I was thinking and feeling in those first few experiencing or are anxious about your cancer returning, months following treatments—and to tell them what I speak up. Your health care team can give you the needed,” Eddie says. IMAGE: ADOBE STOCK IMAGE:

6 Winter 2020 NIH MedlinePlus In addition to your family and friends, online and in-person support Food for thought: groups can offer an additional kind of help. Limiting stress is also key for survivors. Relaxation exercises, What you eat matters meditation, and yoga can all help with stress management. After your treatment, eating well can help you regain Amy Fenske, who is a survivor of stage IV melanoma, tries to stay in strength, rebuild tissue, and feel better overall. the moment to help manage her stress. Here are some tips for healthy eating: “Nothing has forced me into the present more than cancer,” Amy ɠ Work with a dietitian to create a nutritious, says. “[My diagnosis] was a huge wake-up call to what’s important.” balanced eating plan. Additionally, moderate exercise such as walking, biking, or ɠ Eat a variety of foods from all of the swimming is a good way to feel better mentally and rebuild strength food groups. and endurance. Be sure to first check with your provider before ɠ Choose high-fiber foods, such as starting or stopping any exercise routine. whole-grain breads. Giving back ɠ Limit red meats. ɠ Limit alcohol to no more than one (for women) Volunteering in your local community or even helping other cancer or two (for men) drinks per day. survivors or patients can be a good way to give back and feel connected. Some activities include joining or leading a support group, For more information, check out NCI’s resources contributing to an advocacy effort, or participating in a clinical trial. for cancer survivors at cancer.gov/about-cancer/ Before giving back, make sure you feel emotionally ready and are coping/survivorship T not pushing yourself. SOURCES: MedlinePlus; National Cancer Institute

New on MedlinePlus: HIV PrEP and PEP Medications work to prevent HIV

NEW ON MEDLINEPLUS Information In the U.S., HIV is most about pre-exposure prophylaxis commonly transmitted through (PrEP) and post-exposure sex or contact with blood. The final prophylaxis (PEP) is now available stage of HIV is AIDS, or acquired on MedlinePlus in both English immunodeficiency syndrome. and Spanish. PrEP is a medication that people PrEP and PEP are medicines that who are at high risk of HIV can work to prevent HIV, or human take daily. PEP is for emergency immunodeficiency virus. HIV is a situations, and should be taken an emergency room right away if serious condition that weakens your within 72 hours of suspected you think you may have been immune system, which can make exposure and for 28 days after. exposed to HIV. T you more likely to get infections and You should contact your certain cancers. health care provider or go to SOURCE: MedlinePlus IMAGE: ADOBE STOCK IMAGE:

Winter 2020 magazine.medlineplus.gov 7 Heartburn: What you need to know

eartburn is a burning feeling in your chest or Is heartburn serious? throat. Despite its name, heartburn actually Occasional heartburn isn't a cause for concern. But if has nothing to do with your heart. heartburn occurs regularly, interferes with your daily H routine, or is caused by Who gets it? GERD, it could damage More than 60 million Americans experience heartburn at your esophagus or lead to FAST FACTS least once a month. Some studies suggest that more than cancer. 15 million Americans experience heartburn symptoms When heartburn is More than 60 million each day. frequent or it leads Americans experience to complications, it is heartburn at least once . What causes it? categorized as GERD. a month There are several conditions that can cause SOURCE: American College heartburn, but most often it's caused by acid reflux What are the of Gastroenterology or a more chronic form of acid reflux called GERD, or symptoms? gastroesophageal reflux disease. Eating certain foods, drinking alcohol, and some ɠ Burning in the chest after eating or at night medications can make heartburn more likely. ɠ Pain that worsens when lying down or bending over ɠ Bitter or acidic taste in the mouth What is acid reflux? When you swallow food, it passes from your throat, What makes heartburn worse? through your esophagus, and then through an opening in Being pregnant or overweight can make you more your stomach. likely to have heartburn. There are also certain foods This opening usually closes once the food passes and drinks that can trigger heartburn including: through. If it doesn't, acid from your stomach may enter ɠ Spicy foods through the opening and travel the wrong way—back into ɠ Acidic foods, like those with citrus (oranges or lemons) your esophagus and to your throat. This is called acid or those with tomatoes (marinara sauce) reflux. The opening can occur sporadically after a meal ɠ leading to multiple reflux events. Alcohol ɠ Caffeinated beverages, like coffee and tea IMAGE: ADOBE STOCK IMAGE:

8 Winter 2020 NIH MedlinePlus HEARTBURN

How is it diagnosed? Providers may also recommend lifestyle changes, like losing weight and quitting smoking, which can increase If you're experiencing heartburn, make sure to track stomach acid production. Other changes often include your symptoms. For example, how often does it happen reducing stress, exercising more, avoiding food around in a day? Does it happen after eating? You can bring bedtime, raising the head of the bed about 6 inches, and this list to your provider to help make a faster and eating more high-protein, low-fat meals. better diagnosis. After discussing your symptoms and medical history What if medication or lifestyle with you, your provider can usually diagnose heartburn easily. changes don't help? Your provider may request more testing if lifestyle What are the treatment options? changes and medication did not help. These tests If you have heartburn, your provider may prescribe include a pH test to check for acid in your esophagus or over-the-counter antacids, which may come in a chewable an endoscopy. This test uses a small tube with a camera tablet. They might also recommend prescription drugs and light to see inside of your digestive tract and spot such as H2 blockers or proton pump inhibitors, which any issues. T reduce how much acid your stomach makes.

SOURCES: MedlinePlus; National Institute of Diabetes and Digestive and Kidney Diseases; American College of Gastroenterology

important heartburn facts 4 you should know about D r. John Pandolfino talks triggers, weight loss, and complications

Despite what it's called, heartburn—or that burning feeling in your chest—has nothing to do with your heart. Here are four key facts about heartburn from John Pandolfino, M.D., of Northwestern University.

Many diseases can cause heartburn. Not all foods trigger heartburn. There's a Acid reflux is not always the cause. difference between what makes you more likely to One disease that can cause heartburn is experience heartburn and what triggers heartburn. 1 achalasia, a rare disorder that makes it 3 Fatty foods, for example, lower your anti-reflux difficult for food and liquid to pass into barrier, which can increase your chances of your stomach. Another is eosinophilic heartburn. Acidic foods may trigger heartburn esophagitis. That's an allergic inflammatory the moment they hit your esophagus. Avoiding disease of the esophagus. heartburn triggers will help stop heartburn.

Regular heartburn does not lead to Significant weight loss is not necessary cancer. Most people who experience to ease heartburn. Some people experience occasional, mild heartburn will not develop heartburn after gaining weight. However, 2 esophageal cancer. If you have heartburn 4 significant weight loss—such as 50 or 60 pounds— regularly for 10 or 15 years, for example, there isn't necessary to stop heartburn. Losing the 5 is a very small chance that it could lead to or 10 pounds you gained and returning to your cancer. Always talk to your doctor if you baseline weight will help heartburn disappear. experience regular symptoms and please don’t wait, as endoscopy can assess your risk. SOURCES: MedlinePlus; National Institute of Diabetes and Digestive and Kidney Diseases

Winter 2020 magazine.medlineplus.gov 9 HEARTBURN What's new in heartburn research? Imaging advances help doctors better understand long-term treatment needs

We also found that in people who do have considerable orking with NIH's National Institute acid burden, we could more easily identify who might need of Diabetes and Digestive and Kidney something more dramatic than PPIs, such as an endoscopic Diseases, John Pandolfino, M.D., studies or surgical procedure to strengthen the reflux barrier. Whow to improve intestinal pain like heartburn. He works at Northwestern University, where he teaches What effects might this have on how and leads a team of researchers. health professionals treat patients? Dr. Pandolfino spoke to NIH MedlinePlus magazine It helps give patients an important message that we're not about new research in this area and advice for people guessing whether or not you need this medicine—we're experiencing heartburn and related issues. telling you. We're not going to give you medicine if it's not going to help you. Why did you decide to study It sounds very simplistic, but this would be such a cost- heartburn? effective strategy for people. When I was a fellow and trainee at Northwestern University, some of the best research focused on gastrointestinal motility and physiology. This refers to the contraction of the smooth muscles in the “For people on PPIs, gastrointestinal tract. never look at it as if What inspired me about this area is how logical it is. It uses laws of fluid dynamics and biomechanics. you have to have this It was also interesting to me because I come from a family of plumbers. In some ways, I feel like I stayed in kind of treatment for the family business. I'm just a human plumber that tries to the rest of your life.” prevent clogs, blockages, and things from going backwards. – John Pandolfino, M.D. Tell us about your recent research. We've been looking at how well diagnostic tests can John Pandolfino, M.D., is trying to improve treatment for people identify specific markers and measurements that may experiencing heartburn. help us predict who needs to reduce or increase their reflux therapy. For example, we use a wireless capsule that monitors What advice do you have for people the overall acid burden over four days. You swallow it, experiencing heartburn? and it safely travels through your digestive tract just like a piece of food. See your primary care provider. They will assess your This can help us predict who with heartburn symptoms overall risk for developing something called Barrett's actually needs a PPI—or proton pump inhibitor. PPIs are esophagus. This occurs when the cells in the lining of your a group of drugs whose main purpose is to reduce the esophagus are damaged from acid reflux. If the cells develop production of stomach acid. We want to identify which abnormally, it could lead to esophageal cancer. patients can get off it in favor of other therapies and those People with heartburn can do plenty to manage symptoms who truly need it. on their own, too. This includes eating well, losing weight, exercising, and reducing stress. Stress reduction will cause a What has your research found? dramatic reduction in your symptom severity. For people on PPIs, never look at it as if you have to have We can now help patients better understand why we this kind of treatment for the rest of your life. If you have have to keep them on medicine—or don't. heartburn and need a PPI, you should first work on lifestyle For example, for people who do not show any evidence modifications. It's amazing how many people can get off the of acid burden through capsule imaging, they can stop PPI and maybe just use antacids when they need them. T

their PPIs. OF JOHN PANDOLFINO COURTESY IMAGE:

10 Winter 2020 NIH MedlinePlus HEARTBURN Finding her voice: A teacher's heartburn experience Laurie Hayes never expected acid reflux was causing her hoarseness

During that period, Laurie's doctor Along the way, Laurie says she's prescribed a medication that treats learned a lot about managing her acid reflux and heartburn, she says. symptoms with lifestyle changes. Acid reflux occurs when the She avoids foods like tomato sauce contents of your stomach back up or anything spicy late at night, both into your esophagus. of which trigger her heartburn. She's PERSONAL Heartburn is a also careful not to overeat and she STORY burning sensation avoids caffeinated drinks like coffee behind your and soda. breastbone, neck, or throat that is often caused by acid reflux. "Suddenly I had my "When I started taking the life back—and the fact medications he prescribed, I was Acid reflux treatment helped teacher shocked that my voice started that I had my voice Laurie Hayes improve her vocal issues. coming back," said Laurie. back was so crazy." – Laurie Hayes F Not only did her voice return or nearly 20 years, Laurie while taking the medication, but she Hayes struggled with losing realized that the pain she had been When she's not so careful with her voice. feeling was not her injured vocal her diet, she needs to take her The preschool teacher, who once cords, but heartburn. medication to counteract the effects. sang in local bands, never imagined "I didn't realize how much it was "My advice for others would be that a condition that affects nearly hurting my throat until I missed a to pay attention to your symptoms 60 million Americans would be to dose," she says. "I would get that and talk to your doctor," Laurie blame: heartburn. burning feeling in my throat and says. "Don't ignore anything "Doctors first diagnosed me with my voice would go away. When I because heartburn can really affect vocal cord nodules, which made took my medication, I started feeling your body." T it difficult for me to speak," Laurie a lot better and my voice would says. "I had seen speech pathologists come back." and other doctors for years, and we Laurie's voice improved so much decided it was best to have surgery with the use of the acid reflux Find Out More to remove them." medication that she canceled the Vocal cord nodules aren't nodule surgery. ɖ MedlinePlus: Heartburn dangerous, but they can cause "Suddenly I had my life back—and https://medlineplus.gov/ heartburn.html hoarseness and discomfort. the fact that I had my voice back was so crazy," she says. ɖ MedlinePlus: GERD Getting answers https://medlineplus.gov/ Life managing heartburn gerd.html In 2010, Laurie met with a specialist to address her hoarseness. In the nine years since, Laurie has ɖ Acid Reflux in Adults He ordered a laryngoscopy, a been on a heartburn medication to https://www.niddk.nih.gov/ health-information/digestive- procedure that lets a doctor look manage her symptoms and meets with her doctor regularly. diseases/acid-reflux-ger- at your throat and voice box. gerd-adults Following this procedure, they She says heartburn will be ɖ ClinicalTrials.gov: Heartburn scheduled the surgery, which something she has to manage forever and that while she experiences https://clinicaltrials.gov/ct2/ required not speaking for a month results?cond=heartburn leading up to it. occasional hoarseness, her voice is

IMAGE: COURTESY OF LAURIE COURTESY HAYES IMAGE: back to normal.

Winter 2020 magazine.medlineplus.gov 11 12 After losing her stepsister, her losing After a singer works more andgive voiceto patients remove stigma Why No are inpain. becausethey oneshould feelalienated thestigmathatcancome withsicklecelldisease. end We lookingatthem. that someonehasitjustby needto disease isincredibly important becauseyoucan'ttell are goingthrough. whatyou andunderstand are peoplewhoknow There It's thatyouare importantforyouto notalone. know sickle cell? to those with your is What message theconversation. and open my voiceto raise awareness aboutsicklecelldisease Ihadto getinvolvedanduse Seeing Brie'sexperience, Sometimes thepainwassobadshecouldn'tspeak. was inthehospitalforthree weeksoutofthemonth. daily life.Shehadto missschool.Sometimesshe about it. learnedsomuch more Brieandthen I gotto know mymommetstepdad, much.When I didn'tknow diagnosis? her you of before learned didWhat you sickle cell know about sickle celldiseaseandto findacure forit. known. strongest peopleIhave ever wanted to beamodel.Shewasoneofthekindestand musicandfashion.She kid. Sheloved like anyother face.Shewasjust hard—with asmileonher were they life.entire hard. Shewasjust16yearsold.foughtsohard her Bryanna passedaway inJanuary of2018.It wasreally sickle cell. with Tell journey your about stepsister's us She shared her experience withNIHMedlinePlus magazine. experience She shared her ones.with peoplesicklecelldiseaseandtheirloved lastyear.blood disorder to Sparkshasbrought more conversation thediseaseandstarted attention Sincethen, anopen and foundanadditionalcallingasactress. Just lastfall,shestarred intheBroadway musical"Waitress." Idol" in2007. "American competition show andproduced Grammy-nominated win,Sparkshaswritten albums Sinceher MultiplatinumTV singing recording artistJordin ofthehit astheyoungestwinner Sparksfirstgotthenation'sattention Winter 2020 NIHMedlinePlus Being ableto changethenarrative aboutsicklecell itaffected struggleandsawI watched her how her Brie's dream wasto raise more awareness about when throughBut shealways things—even went Offstage, Sparks has become a leading advocate for people with sickle cell disease. She lost her stepsister, Sparkshasbecomealeadingadvocate forpeoplewithsicklecelldisease.Shelosther Offstage, Bryanna, to the talk about sickle cell disease aboutsicklecell talk Jordin Sparks

sickle cellstories. important forpeopleto andshare cometogether their andNovartis. ofAmerica Association * It'sCell Disease SstorytellingGeneration project alongwith theSickle help others. cell diseaseto andspread makeawareness to adifference really loved. thatIthinkBryannawouldhave movie Christmas-themed Broadway musical"Waitress." Finally, I'mworking onanew onstageintheproject Iamworkingon.wasalsorecently I'm continuingwithmymusic,addingmore songsto the songwriter, actress? and your singer, with as career latest the is What Weattention. needmore research to findacure. Sickle celldiseaseisarare diseasethatdoesn'tget enough so important? others and NIH Why by research is like the supported that does notconstitute orimplyendorsementby any federal agency. notinvolved inthe creation* NIHwas oftheproject andreference to it This Sparksstarred musical“Waitress.” pastfall, intheBroadway That is why it has been amazingtoThat iswhy bepartofthe ithasbeen I also want to continue my advocacy workwith sickleI alsowantto continuemyadvocacy

T people to wants more

IMAGES: TOP LEFT, MATT MURPHY; TOP RIGHT, BRUCE GLIKAS; RIGHT, COURTESY OF JORDIN SPARKS SICKLE CELL DISEASE

"We need to end the stigma that can come with sickle cell disease. No one should feel alienated because they are in pain."

– Jordin Sparks SICKLE CELL DISEASE Updates from NIH's sickle cell disease scientists Dr. Griffin Rodgers and Dr. John Tisdale discuss bone marrow transplants, gene therapy

any people with sickle cell disease (SCD) are healthier and living longer thanks in part to research led and supported by the National MInstitutes of Health (NIH). Recent efforts have led to breakthroughs in treating and even curing the red blood cell disease. John Tisdale, M.D. (left), and Griffin Rodgers, M.D., lead sickle cell In order to have SCD, a person must inherit the sickle disease research at NIH. cell trait from their birth mother, father, or both parents. If you have just one trait, you can live a very long time. If you have the trait from both parents, SCD can be extremely "If we could cure sickle cell painful and lead to death. "Many people don't realize the severity of this disease," disease in a safe and effective says John Tisdale, M.D., senior investigator at NIH's National Heart, Lung, and Blood Institute, who leads NIH way, such as a pill that can sickle cell disease research along with Griffin Rodgers, reverse the disease, that M.D., director of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). would be a home run." "It can cause severe, debilitating pain that stops – John Tisdale, M.D. you from doing all the things in life that people try to accomplish," Dr. Tisdale adds. "It affects patients and families and support systems." In the U.S., more than 100,000 people have the "The majority of patients with SCD are still suffering disease and it's more common in African Americans and as they were a decade ago despite these advances," says Hispanics. Millions of people worldwide suffer from the Dr. Rodgers. disease too, including large populations in India and the Other treatments for SCD include hydroxyurea, a Middle East. medication developed for this use by Dr. Rodgers and The breakthroughs have been remarkable and lifesaving colleagues. It has been approved for use in adults for years for many. However, not all those with SCD can be but was only recently approved for children in the U.S. substantially helped or cured by current treatments. And While it's not a cure, hydroxyurea helps red blood cells many patients, especially those in other countries, have better carry oxygen in patients with moderate to severe limited access to current treatments for the disease. SCD. This lessens pain and helps patients live longer. Researching more cures How bone marrow transplants work That's why researchers like Dr. Rodgers and Dr. Tisdale In a more traditional bone marrow transplant, a patient is continue testing new ways to treat the disease. first treated with chemotherapy. Then, he or she receives a They've been working side by side for years with the bone marrow transplant from a healthy donor. same goal in mind: to cure all people in simpler, less But bone marrow transplants are often expensive, time expensive ways. consuming, and hard to get. Their recent research aims to help more patients find a "One problem with bone marrow transplants is that you cure through expanded bone marrow transplant treatment need to have a family member whose genes match," says

and gene therapy. Dr. Rodgers. OF NIH COURTESY IMAGES:

14 Winter 2020 NIH MedlinePlus SICKLE CELL DISEASE

Other problems include the risk of Sickle cell disease: stroke, which people with SCD are more susceptible to because of the disease's heavy stress on their organs. What you need to know Symptoms, treatments, and causes More treatment options To address these limitations, Dr. Rodgers, Dr. Tisdale, and their ickle cell disease (SCD) or sickle cell anemia is a genetic blood research teams are studying how to disorder that causes red blood cells to change shape and to block repair bone marrow through gene Sblood vessels, causing severe pain. The blockage can lead to infections, therapy. This treatment doesn't organ damage, and stroke. require a donor. "Now we can take the patient's What causes it? own bone marrow, use an SCD is inherited from one or both parents. You cannot catch SCD from engineered virus that carries genes another person. SCD causes red blood cells to change shape from flexible to the bone marrow, and give smooth discs to hard, sticky "sickle" shapes. The sickle shaped cells can repaired bone marrow stem cells get stuck in small blood vessels and block the flow of oxygen to organs in back to the patient so that healthy your body. bone marrow cells can grow," Dr. Tisdale says. Who is affected? The procedure has been effective SCD affects 90,000 to 100,000 people in the U.S. It mostly affects people in more than 90% of adults in a with African American, Hispanic, and Mediterranean heritage. Worldwide, number of small clinical trials SCD affects millions of people. already. Researchers are working hard to What are the symptoms? test it in larger clinical trials soon. ɠ Swelling: Painful swelling in your hands or feet is one of the earliest signs. Future of sickle cell ɠ Anemia: A lack of red blood cells, treatment or hemoglobin, can cause extreme Normal red blood cells Ultimately, Dr. Rodgers and Dr. tiredness and weakness. Tisdale hope to work towards ɠ Severe pain: Sickle cells get clogged more affordable, accessible and block blood flow, which can be treatment options—such as bone extremely painful. The pain cannot be marrow repair. predicted and can start suddenly. "If we could cure sickle cell ɠ : In severe cases, sickle cells disease in a safe and effective way, Stroke can clog blood flow to the brain and such as a pill that can reverse the Red blood cells with cause a stroke. disease, that would be a home run," sickle shape says Dr. Tisdale. ɠ Eye disease: SCD can affect the blood Dr. Rodgers adds: "It sounds like vessels in the eye and damage the eyes. science fiction now, but that's what ɠ Acute Chest Syndrome: Sickle cells can block blood flow to the we think about for the future." lungs and chest, which makes it hard to breathe. These symptoms For those with the disease, Dr. are similar to those of pneumonia, causing coughing, chest pain, Rodgers and Dr. Tisdale recommend difficulty breathing, and fever. seeking out a clinical trial through ClinicalTrials.gov. Patients can get How is it treated? access to new treatment options SCD can be treated with medication including the antibiotic penicillin, and help researchers like Dr. blood transfusions, and blood or bone marrow transplants. The only cure Rodgers and Dr. Tisdale better for SCD is a bone marrow transplant. However, there can be complications understand the disease. T with bone marrow transplants and not everyone can receive one. T

SOURCES: MedlinePlus; Centers for SOURCES: MedlinePlus; National Heart, Lung, and Blood Institute; Centers for Disease Disease Control and Prevention Control and Prevention

Winter 2020 magazine.medlineplus.gov 15 SICKLE CELL DISEASE

From Africa to the U.S.: A young woman's search for sickle cell disease treatment Bone marrow transplant gives family hope

"I remember watching a boy with sickle cell disease playing in the hospital waiting room. He looked so healthy, not small, not with yellow eyes, like me," Yinka recalls. Her mother learned that the boy had received a bone marrow transplant from his younger brother. She wanted the same for her daughter. A perfect match Yinka was very fortunate to have a younger sister who was a half-match for a bone marrow transplant. "My sister hates needles, but she took it all like a champ," Yinka says. "I knew "I can't describe the pain," says Yinka. she was doing it for me." "I had it everywhere in my body—my chest, my back, The transplant process my face, and even in my fingernails." was long. It involved months Yinka is a 37-year-old second grade teacher in Baltimore, of drawing blood, stem-cell Maryland. When Yinka was only 1 year old, she was injections, hospitalizations, diagnosed with sickle cell disease (SCD), a painful genetic kidney monitoring, and disease that causes problems with red blood cells. much more. Growing up, she knew she was different because of SCD. But despite the lengthy Yinka, right, shares her sickle "I wasn't like the other children in school," she says. "I and sometimes challenging cell treatment story along with NIH researcher Courtney was small. I couldn't run as fast." She also missed a lot of process, Yinka's family Fitzhugh, M.D. school due to doctor's appointments and illness. finally got the news they had "There was pain wherever the blood flows. It hurt so been waiting for. badly," she recalls. "I woke up one morning, PERSONAL Yinka grew up in Nigeria, Africa, where and something was different. I actually felt good. For the STORY access to new and developing treatments first time ever, I woke up without pain," Yinka says. for the disease was limited. She and her mom were jumping for joy and laughing. Determined to get Yinka the help she needed, her "You tell people you have pain, but they just don't get it. mother moved their family to the U.S. For the first time, I knew what it was like to not have any But in the U.S., Yinka continued to struggle. She pain," Yinka adds. remembers constantly going to her doctor, explaining the pain and looking for any kind of help. Spreading awareness "I would look at him in the eyes and say, ‘Something is When a person has sickle cell disease, they experience wrong.' But the doctor would just send me home each severe pain every day. time with medication." Yinka hopes to build awareness about this pain so that When she was in her early 20s, Yinka and her mother people take the disease and the patient seriously. started exploring bone marrow transplants, the only cure "It's a chronic disease and we aren't lying," Yinka says. for sickle cell disease to date. "We need to take care of the severe pain that we are in." T IMAGES: ADOBE STOCK; COURTESY OF COURTNEY FITZHUGH OF COURTNEY COURTESY ADOBE STOCK; IMAGES:

16 Winter 2020 NIH MedlinePlus SICKLE CELL DISEASE Investigating bone marrow transplants: A cure for some sickle cell disease patients NIH researcher works to improve transplant success for adults

Courtney Fitzhugh, M.D., is working to expand treatment options for sickle cell If we use a donor who is half- I'm hoping our research can go patients of all ages. matched, we can increase the chance beyond sickle cell disease to have a that a patient will have a suitable bigger impact. S donor from 10% to 90%. Parents and ickle cell disease (SCD) children can be a half-match. What advice do you have specialists have performed bone for people with SCD? marrow transplants in children What prompted you to since the 1990s. This procedure is the Keep an open mind about new only cure for SCD to date. do this research? opportunities that are available. There NIH MedlinePlus magazine spoke About 95% of children can be cured are a lot of resources for care and with Courtney Fitzhugh, M.D., a if they have a sibling with a complete treatment. Also, talk to your doctor Lasker Clinical Research Scholar at tissue match. Adults with a sibling and join a clinical trial in your area. the National Heart, Lung, and Blood who have a tissue match can also There's a lot of hope. It's an Institute, about the current and future survive with immune suppression exciting time for sickle cell disease outlook for this important treatment. medication. I wanted to develop research. Not everyone can get a a way to have half-match donors bone marrow transplant. However, What NIH-supported contribute bone marrow and for the there are a lot of studies, drug trials, outcomes to be successful. and therapies. It's a different time SCD research are you now—it's a better time. T working on? What challenges do Since the 1990s, to do a bone marrow you face when transplant, a patient had to have researching SCD? a sibling with a complete tissue Find Out More match and take a medication that We had a lot of patients referred to suppresses their immune system us that we couldn't help because they ɖ MedlinePlus: (Cyclophosphamide), as well as high didn't have a donor who was a tissue Sickle Cell Disease dose chemotherapy. match. Then when we developed a https://medlineplus.gov/ This has been highly successful half-matched protocol, half of the sicklecelldisease.html patients eventually rejected the cells, in children. The problem is, most ɖ National Heart, Lung, adults can't tolerate high doses of and the disease came back. So I wrote and Blood Institute: chemotherapy because their organs a new protocol in 2017 which has Sickle Cell Disease are already damaged and they been much more successful so far. https://www.nhlbi.nih.gov/ don't have a sibling with an exact health-topics/sickle-cell- tissue match. What types of changes disease My research involves giving are you seeing? ɖ NIH News in Health: medications to suppress the immune Bone marrow transplants are not When Blood Cells Bend system in adults. We are trying working in 100% of patients. I want https://newsinhealth.nih.gov/ to create a state where instead of to make changes to make them 2012/04/when-blood-cells-bend completely replacing bone marrow more successful. Also, I'd like to ɖ ClinicalTrials.gov: with that of their donors, we are figure out why a transplant works Sickle Cell Disease creating a mixture of donor and in some patients rather than others https://clinicaltrials.gov/ct2/ patient cells because we now know and also focus our approach instead results?cond=sickle+cell that as low as 20% donor cells is of generally suppressing the whole +disease

IMAGE: COURTESY OF COURTNEY FITZHUGH OF COURTNEY COURTESY IMAGE: enough to reverse sickle cell disease. immune system.

Winter 2020 magazine.medlineplus.gov 17 ENDOMETRIOSIS

Improving endometriosis diagnosis through research and awareness Dr. Lisa Halvorson encourages women to speak up about their pain

A long with the growing awareness about endometriosis and how many women it affects, researchers have also been working to better understand the disease and its symptoms, so they can improve diagnosis and treatment—and ultimately find a cure. NIH MedlinePlus magazine spoke with Lisa Halvorson, M.D., chief, Gynecological Health and Disease branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Dr. Halvorson discussed the latest endometriosis research and goals for future treatments. What prompted NICHD researchers to do research around endometriosis? NICHD has a strong interest in supporting research which improves women’s reproductive health. Endometriosis is a common disease that is debilitating for many women and a substantial cause of infertility. We do not understand the causes of this disorder and have limited options for diagnosis and treatment. There is enthusiasm for pursuing all of the unanswered research questions since they may have a significant impact on women’s lives. Lisa Halvorson, M.D., wants to improve treatment and What’s the latest in National ultimately find a cure for women with endometriosis. Institutes of Health (NIH)-supported endometriosis research? NIH has supported work which has led to the development of new treatment options for endometriosis. One of these We urgently need more research to better is the newly available oral medication, Elagolix, which has understand the basic biology behind the proven effective for treating endometriosis pain. However, development of endometriosis, including the role this medication can have side effects and women on this of genetics, stem cells, and immunology in the medication cannot get pregnant. Therefore, additional studies disease. This understanding could provide new

are being supported to identify other treatment options. ideas for treatment options. AND HUMAN DEVELOPMENT OF CHILD HEALTH INSTITUTE SHRIVER NATIONAL OF EUNICE KENNEDY COURTESY IMAGE:

18 Winter 2020 NIH MedlinePlus ENDOMETRIOSIS

We currently diagnose endometriosis with "We urgently need more research laparoscopic surgery, although there is a move towards basing the diagnosis on the presence of symptoms to better understand the basic alone. It would be great if we could make an accurate diagnosis using a simple, inexpensive, non-invasive biology behind the development approach such as a blood test or a test of the menstrual tissue. This would be similar to the use of stool of endometriosis." samples to screen for colon cancer. There is currently a lot of interest in developing a diagnostic tool for - Lisa Halvorson, M.D. endometriosis that doesn’t require surgery. How has research contributed to our changing understanding of endometriosis? What types of challenges do Through research, we are realizing that endometriosis researchers face? comes in many different forms and has a wider array of One of the big challenges is how to study a disease that presentations than we previously appreciated. We have appears in a wide variety of ways. Some women can have begun to understand that endometriosis is actually a a huge amount of endometriosis—lots of tissue outside systemic disease. That is, although the lesions are seen of where it should be—but little pain. Other women in the pelvis, there are widespread effects throughout may not appear to have much endometriosis but have the body including an increased risk of heart disease, severe pain and infertility. depression, and some cancers. There is still more to We also have difficulty diagnosing the disease. A lot of learn but many of these associated disorders may be due girls have it in adolescence but don’t speak up until they to activation of the immune system. are in their twenties. If you don’t know the natural course

of the disease, it’s harder to understand what’s driving it, what makes it worse, or what the symptoms are. What is awareness of endometriosis like right now? The good news is that there’s more awareness among DID YOU KNOW? health care providers and women than there was just a few years ago. However, health care providers need to be more careful when taking patients’ medical histories Endometriosis is especially and patients need to feel more comfortable providing common among women in open and accurate answers. Instead of saying, “I’m just fine,” women need to speak up and say, “Actually, my their 30s and 40s and may periods are just horrible.” make it harder to get pregnant. What is your hope for the future of endometriosis research? SOURCE: Office on Women's Health I’d also like to see ways to prevent rather than just treat the condition so that women don’t suffer. That would be the holy grail. T

Winter 2020 magazine.medlineplus.gov 19 ENDOMETRIOSIS

Endometriosis: What you need to know

T he uterus, or womb, is where a baby grows in a Who is affected? woman’s body when she is pregnant. It’s lined with Endometriosis can affect any woman who menstruates. tissue known as the endometrium, which is key for In the U.S., it is estimated that 10% to 15% of women of implantation, growth, and growth of the placenta. All of childbearing age have endometriosis. these are critical to a baby’s health. But if a woman isn’t pregnant, that tissue sheds monthly along with menstrual blood, a process known as menstruation, or a period. Surgery has long been considered For women with endometriosis, tissue that is similar to the lining of the uterus grows in other places in their the gold standard for confirming body, including: the diagnosis of endometriosis. ɠ On the ovaries ɠ On the fallopian tubes, which carry eggs from the ovaries to the uterus What are some of the risk factors? ɠ Behind the uterus ɠ Periods started at an early age (before age 11) ɠ On the bowels or bladder ɠ Periods are short or random, or last more than 7 days, Just like the tissue that is shed from the uterus each and are heavy month during a woman’s period, the tissue in these ɠ Abnormal vagina, uterus or fallopian tubes other places can also shed, which could cause pain, ɠ Having a mother, sister, or daughter with endometriosis

bleeding, and possible complications. ISTOCK IMAGE:

20 Winter 2020 NIH MedlinePlus ENDOMETRIOSIS

fallopian tube uterus

ovary

endometriosis

What are the symptoms? Doctors can also use imaging techniques, such as an ultrasound or magnetic resonance imaging The main symptoms of endometriosis are infertility and pain (MRI), to help diagnose the condition. during your period. Although often worse during your period, pain and other symptoms can also occur throughout the How is it treated? month, including: Endometriosis can be treated but not cured. ɠ Extreme lower abdominal pain or bloating Medications that contain hormones, such as birth ɠ Lower back pain control pills, injections, or nasal spray can help ɠ Pain with bowel movements or during urination lessen pain and bleeding. However, the symptoms ɠ Nausea, vomiting, or feeling light-headed can come back if the medicine is stopped. ɠ Heavy vaginal bleeding during your period or Providers may also prescribe pain medication. spotting in between periods Surgical treatment to remove small sections ɠ Pain during sex of scar tissue can be done using laparoscopy. A laparotomy is a more invasive procedure where a ɠ Chronic fatigue surgeon makes a cut into the abdomen to explore Women with endometriosis may have some or many of these or remove scar tissue. Other surgical treatments symptoms. Be sure to discuss all of your symptoms with your include cutting nerves to help with pain. health care provider to make sure you are diagnosed correctly. If you suspect endometriosis, make sure to reach out to your doctor or gynecologist, a doctor How is it diagnosed? who focuses on female reproductive organs. They Surgery has long been considered the gold standard for confirming will help review your medical history, discuss the diagnosis of endometriosis. The most common type is called symptoms, as well as help with diagnosis and a laparoscopy, which uses a tiny camera attached to a thin tube potential treatment. T called a laparoscope to see inside a woman’s reproductive areas SOURCES: MedlinePlus; Eunice Kennedy Shriver National and around her intestines. Sometimes a small sample of tissue, Institute of Child Health and Human Development called a biopsy, is taken during surgery to confirm the diagnosis.

60%–80% Approximately Roughly Women with endometriosis have an of female patients 5 million 176 million with chronic U.S. women's women worldwide increased risk pelvic pain have lives are impacted suffer from of ovarian cancer, endometriosis by endometriosis endometriosis depression, and migraines

SOURCE: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Winter 2020 magazine.medlineplus.gov 21 ENDOMETRIOSIS Inheriting endometriosis A mother and daughter share their journeys and offer advice

A mother's perspective Suzanne’s mother also had That baby, her daughter, Rachel, endometriosis. But it wasn’t is now 25 years old. Rachel also something that was discussed much “How do you measure pain when no has endometriosis. back then, so Suzanne, like many one talks about it?” women, didn’t know what to do That’s what Suzanne Chutchian, Paying it forward about it. a licensed clinical social worker Suzanne is glad that today there are “My mother thought it was and therapist, remembers about more treatment options for Rachel somewhat normal to have pain, her endometriosis before she and other women with endometriosis. but she still encouraged me to seek got treatment. Suzanne has had a number of treatment for it,” she says. Endometriosis happens when laparoscopic surgeries since her first tissue similar to the lining in a one. Doctors also removed the parts woman's uterus grows in other parts Two options of her ovaries that were covered with of the body. It can When Suzanne finally discussed her excess tissue from endometriosis. PERSONAL cause heavy bleeding pain and other challenges with her STORY and severe back gynecologist, he gave her two options: and abdominal pain laparoscopic surgery or pain killers. during a woman's menstrual cycle, She chose laparoscopic surgery, “If you have pain or period. It can also cause intestinal which confirmed that she indeed had problems and infertility. endometriosis and treated it. and other symptoms Suzanne recalls trying to walk up “After the surgery, I had no pain at the stairs at Boston University when all, and no stomach or bowel pain,” of endometriosis, she was 27 years old. she says. “I had freedom! I could do “I couldn’t do it—the pain was anything I wanted to do.” don’t downplay horrible,” she says. “My friend told me that menstrual cramps shouldn’t Pregnancy issues your symptoms.” prevent me from climbing stairs.” Because endometriosis can produce – Suzanne Chutchian That’s when Suzanne decided scar tissue in the pelvis, it can be to discuss her symptoms with difficult for women to become a gynecologist, a doctor who pregnant. So Suzanne’s doctor specializes in women’s health. prescribed medication to help Suzanne increase her chances of As a therapist and mom, Suzanne getting pregnant. regularly gives advice to young A hereditary condition women with the condition, urging Before getting help, Suzanne tried After several years of trying to get pregnant with no success, Suzanne them not to try to “tough it out” to manage her pain with over-the- alone, but rather get treatment. counter pain relievers like aspirin looked into adoption. A year later, soon after she adopted “If you have pain and other and ibuprofen. She also used a baby boy, her son Eric, she learned symptoms of endometriosis, don’t hot-water bottles to help ease her she was pregnant. downplay your symptoms or think stomach cramps. Her pregnancy was not difficult, but you’re not strong enough. Talk with Her condition had a big impact on she had frequent bleeding. Twelve a woman’s health specialist,” her daily life. In addition to painful weeks into her pregnancy, Suzanne she says. T menstrual cramps, she also had bad learned that she had been carrying digestive pain and unpredictable twins, but only one baby survived.

bowel movements during her period. ADOBE STOCK IMAGE:

22 Winter 2020 NIH MedlinePlus ENDOMETRIOSIS

A daughter's journey Getting treatment Initially, Rachel’s When she was just 10 years old, pediatrician prescribed Rachel Chutchian-O'Sullivan got her birth control pills to help first period. control her menstrual Each month, it lasted for 10 to 14 cycle and relieve some of days, which is considered a long the pain. cycle. She also had severe menstrual “It was still painful, cramps, pain in her lower spine, and but not as bad as it was stomach problems. before,” she says. Rachel’s pain was often so bad Later, Rachel’s that she was late for school or doctor prescribed a missed it altogether. birth control injection, “I remember walking to the restroom medroxyprogesterone, at school and stopping in my tracks,” which also helped ease Rachel says. “I couldn’t move at all.” the pain.

Side effects The injection did have “Take us seriously side effects, including weight gain. Rachel got Suzanne Chutchian, right, and her daughter when we complain the injections for several Rachel Chutchian-O'Sullivan have both suffered years, but eventually from endometriosis. about horrible pain stopped because of a more serious side effect: like this.” decreased bone density. So, she went back to “Make it known if you are having – Rachel Chutchian-O'Sullivan taking birth control pills. issues,” Rachel says. “I didn’t talk “Ever since I was diagnosed, I’ve about it when I was younger, but now been afraid that I won’t be able to I do. There’s more awareness now.” T Some days she couldn’t focus get pregnant some day,” she says. because the pain was so severe. She “Knowing that it’s hereditary, I fear was also embarrassed. that if I do have children, I’ll pass it “It’s not something you want to on to them, too.” talk about when you’re that young— Find Out More or ever,” Rachel says. Even with a Advice for others ɖ MedlinePlus: Endometriosis doctor's note, Rachel remembers Today, Rachel still experiences https://medlineplus.gov/ that her school administrators endometriosis.html weren't very understanding about cramps, but they’re much less severe her tardiness or absences due to than when she was younger. At age ɖ Eunice Kennedy Shriver endometriosis. 25, she’s pursuing a master’s degree National Institute of in social work, as her mother did Child Health and Human Diagnosing the pain around that age. Development: Endometriosis She offers the same advice to https://www.nichd.nih.gov/ In her early teens, Rachel had health/topics/endometriosis all people, both women with the numerous doctors visits. Though condition and the men and women ɖ NIH News in Health: Period she suspected it was endometriosis, supporting them: “Take us seriously Problems a condition both her mother and when we complain about horrible pain https://newsinhealth.nih. grandmother had, providers wanted like this.” gov/2019/08/period-problems to rule out other issues. She also advises women of all They performed several tests, ɖ ClinicalTrials.gov: ages who have severe cramps or Endometriosis including computed tomography lower abdominal pain to talk with a https://clinicaltrials.gov/ct2/ (CT) scans, ultrasounds, a women’s health specialist as soon as results?cond=endometriosis colonoscopy, and an endoscopy. symptoms appear. IMAGE: JOYCE CHUTCHIAN JOYCE IMAGE:

Winter 2020 magazine.medlineplus.gov 23 VITILIGO Finding self-confidence with vitiligo

Tonja Johnson created a support group to help others with the common, but difficult, skin condition

Tonja Johnson was diagnosed with vitiligo at age 43 and has lost T about 80% of her color. onja Johnson was 41 years old when she noticed a small, white spot on her leg. It wasn’t long before she started seeing more spots on both her legs and arms. As the spots grew in size and number, Tonja decided to see a dermatologist, a health care provider who focuses "The very thing that brought on skin and hair conditions. Two years later, at age 43, Tonja was diagnosed with vitiligo. The condition causes some or all of the skin to so much pain to my life also lose color, leaving white patches. “I was devastated,” Tonja says. “I wondered, ‘Why me? has brought passion. I no Why this disease?’” longer feel sorry for myself." Covering up She tried to cover up her light patches with long-sleeved - Tonja Johnson shirts, but soon her hands started losing pigmentation. As a dark-skinned African American woman, Tonja says she was teased as a kid for having such dark skin. Then, as an adult, to start losing that very color she had worked so Her doctor prescribed topical creams to help bring back hard to love sent her into a deep depression. the color, but Tonja found it hard to keep that up. She “My vitiligo is aggressive,” Tonja says. “I’ve lost about 80 lives in Florida where it’s hot and humid, so she had to percent of my skin color in a very short amount of time.” reapply the creams often. IMAGES: GINGER WILLIAMS PHOTOGRAPHY IMAGES:

24 Winter 2020 NIH MedlinePlus VITILIGO Is it vitiligo or Embracing vitiligo She considered phototherapy (light therapy) too but it was expensive, something else? costing her several hundred dollars a Learn the difference between vitiligo month. That’s when things changed for Tonja. and conditions like scleroderma or “About three years ago, I stopped Addison disease trying to cover it and just embraced it,” she says. Vitiligo is not the only disease that causes skin to change color. Tonja suggests that anyone with Here are a few conditions and what they look like, including vitiligo. vitiligo do their research to understand what it is, how it affects people, and Vitiligo is an autoimmune disease that what the treatment options are. causes your skin to lose color, often She was surprised by how little resulting in white patches on your skin that information was provided by her cover both sides of your body. doctors and by the lack PERSONAL of support groups, not STORY only in her part of the Pityriasis alba is a common skin disorder country but nationwide. that causes areas of light-colored skin. The Tonja turned to her family, her spots often start as slightly red, scaly patches friends, and her church for help and on the face, upper arms, neck, and upper support. She also founded her own middle section of the body. support group, called Beautifully Unblemished. “I’m an extrovert, but I became very Tinea versicolor is caused by a fungal withdrawn when I started to lose color,” infection and leads to patches of discolored she says. “I got a lot of stares and skin with a fine, dry, scaly surface. pointing because my nose was white but the rest of my face was black.”

Spreading the word Hansen's disease (leprosy) is a bacterial Tonja encourages others to be vocal infection that can also cause discolored and spread awareness about this patches of skin. Usually these patches are flat, common condition. For instance, she look faded, and may even feel numb. wants people to know it’s not just a cosmetic disease—it has real physical Scleroderma is a rare but serious autoimmune and emotional effects. disease that causes parts of the skin to harden. “It’s not contagious—it’s an Often those areas can appear shiny. It can also autoimmune disease,” Tonja adds. create problems with connective tissue beneath In addition to spreading awareness the skin, harming blood vessels and internal organs. and offering support, Tonja also participates in research studies that look at the emotional side of the Addison disease happens when the body doesn’t disease. She hopes this can help others. produce enough cortisol, a hormone that regulates Tonja says that her advocacy work stress. One symptom of the disease is darkening and talking about the condition of the skin in places like scars, skin folds, elbows, have actually helped her become knees, and knuckles. comfortable in her own skin again. “The very thing that brought so Talk to your health care provider if you think you might have vitiligo much pain to my life has also brought or another skin condition. T passion,” she says. “I no longer feel sorry for myself.” T SOURCE: MedlinePlus IMAGES: ADOBE STOCK IMAGES:

Winter 2020 magazine.medlineplus.gov 25 VITILIGO Vitiligo: What you need to know Causes, treatment options, and finding support

Who it affects Vitiligo is more noticeable in those with darker skin tones, but it can affect people of any race or age. Treatment options Researchers supported by the National Institutes of Health are close to getting approval for a new, targeted vitiligo treatment using Janus kinase (JAK) inhibitors. For now, other treatment options include the following: ɠ Phototherapy, also called light therapy, carefully exposes your skin to limited amounts of ultraviolet light. It is recommended for large areas affected by vitiligo. ɠ Laser treatment is recommended for smaller areas of vitiligo, especially those on the face. ɠ Steroid creams and ointments applied to the skin V help suppress the immune system. itiligo is a skin condition affecting roughly one in ɠ Surgical techniques include skin grafting, which 100 people in the U.S. It causes areas of skin to places pigmented skin from a donor on areas of vitiligo. lose pigmentation (color), resulting in light or ɠ Depigmentation, or bleaching, is a permanent change white patches. and is used mostly when the full body is affected. The condition is an autoimmune disease, causing the body’s immune system to attack and destroy its own Not every treatment is right for everyone, and many tissue cells. In this case, it attacks skin cells that give the have side effects. But work to discover more broadly skin pigment. effective, longer lasting treatments offers hope. Where it happens Finding help For those with vitiligo, Vitiligo can happen more frequently on your face and FAST FACTS hands, and at pressure points such as your knees and the emotional impact elbows. Vitiligo is a progressive disease that may evolve of the condition About 15% to 25% of people either slowly or rapidly. While some people develop only can be as intense as with vitiligo are also affected a few patches of white skin, others can get patches that the physical effects. by at least one other cover most of their body. The condition is not autoimmune disorder. contagious or life- SOURCE: Genetics Home Two types of vitiligo threatening, but it can Reference ɠ Vitiligo is when white patches appear symmetrically cause low self-esteem. on both sides of the body. It is the most common type, People with vitiligo accounting for up to 90% of cases. can become depressed and withdraw from friends and family. It’s important for those with the condition to ɠ Segmental vitiligo is much less common. It happens find support from friends or loved ones, counselors, or when white patches appear in a localized area on support groups. T only one side of the body. While it is less responsive to topical treatments like creams, segmental vitiligo SOURCES: MedlinePlus; National Institute of Arthritis and generally develops for a short period of time only Musculoskeletal and Skin Diseases; American Academy of Dermatology; Genetics Home Reference and then stops, so it is a good candidate for surgical

treatments like skin grafts. ADOBE STOCK IMAGE:

26 Winter 2020 NIH MedlinePlus VITILIGO Treating vitiligo: Studies look for long-term options JAK inhibitors and immunosuppressants hold promise Researching more “People are seeing the beauty treatments in their spots,” Dr. Le Poole says. While there’s no cure for vitiligo “Patients are more expressive than ever before. They’re presenting their yet, there are very good treatments disease in an open way and are being available today. That said, Dr. Harris, empowered to accept their skin Dr. Le Poole, and other researchers exactly how it is.” are working hard to find ones that are even more effective. “There are now four clinical trials testing Janus kinase (JAK) inhibitors,” Dr. Harris notes. There were none just a few years ago. “We’re very close to having a U.S. Food and Drug Administration- Researcher John E. Harris, M.D., Ph.D., has discovered breakthrough treatment options approved treatment,” he adds. for vitiligo. JAK inhibitors work to prevent the signaling of specific proteins that cause vitiligo. This kind of targeted "MANY PEOPLE BELIEVE THAT treatment is promising, but it’s still VITILIGO IS A RARE DISEASE," not a cure. When people with vitiligo says National Institutes of Health- stop the drug, the disease comes right back, in the same places it was before. Vitiligo researcher Caroline Le Poole, Ph.D., supported researcher John E. Harris, wants to give patients more options. M.D., Ph.D. “It’s not. It’s one of the Dr. Harris and Dr. Le Poole have most common diseases, affecting one recently learned that they may be able in 100 people worldwide.” to stop memory cells from allowing Dr. Le Poole and Dr. Harris still want the disease to come back. to give people with vitiligo as many “Now that would be a total game treatment options as possible, so they "We want to keep the research changer,” Dr. Harris says. “It would can choose what’s best for them. mean we could treat people for a short “We want to keep the research going and get to a point where time and get years’ worth of benefits.” going and get to a point where people people can decide whether Dr. Le Poole says their can decide whether they want to research teams are also looking embrace their spots—or not,” Dr. Le they want to embrace their to start a clinical trial for an Poole adds. T spots—or not." immunosuppressant, known as a heat shock protein, that could help – Caroline Le Poole, Ph.D. reverse vitiligo. Find Out More “The treatment is meant to nip the development of the disease in the ɖ MedlinePlus: Vitiligo Decades of research by professors bud,” says Dr. Le Poole. “There are https://medlineplus.gov/ Caroline Le Poole, Ph.D., and Dr. new options on the horizon.” vitiligo.html Harris have helped to reveal the central ɖ National Institute of underpinnings of this condition. Providing options Arthritis and Musculoskeletal Fifteen to 20 years ago, the As research continues to advance, and Skin Diseases autoimmune nature of vitiligo began many people with vitiligo are also https://www.niams.nih.gov/ to surface. Since then researchers embracing, rather than treating, their health-topics/vitiligo have been developing an increasingly patches. Celebrities, such as model ɖ ClinicalTrials.gov: Vitiligo more accurate map about underlying Winnie Harlow, and other advocates https://clinicaltrials.gov/ct2/ mechanisms. This is now allowing the have helped inspire confidence and results?cond=vitiligo development of several treatments to spread awareness. disrupt vitiligo. IMAGES: COURTESY OF JOHN E. HARRIS AND CAROLINE LE POOLE LE POOLE OF JOHN E. HARRIS AND CAROLINE COURTESY IMAGES:

Winter 2020 magazine.medlineplus.gov 27 from the LATEST RESEARCH UPDATES lab FROM NIH New NIH study may help predict those at risk for severe MS Dark-rimmed spots in the brain may signal a severe form of the disease

RESEARCHERS MAY SOON be able to look at images of our brains to help diagnose multiple sclerosis (MS) earlier. MS affects more than 2 million people worldwide. The disease happens when the body’s immune system attacks the protective coating around nerve cells in the brain and spinal cord. In a recent study, National Institutes of Health (NIH) researchers followed 192 people with MS for seven years. They found that more than half of the patients had one or more dark- rimmed spots inside their brains. These spots may be markers for a Dark-rimmed spots on the brain, like this one, may suggest a more severe form of multiple more serious form of the disease. sclerosis and help with early detection. Some early symptoms of MS include problems with seeing, balance, and muscle strength. But more aggressive powerful magnetic resonance imaging predict who is at risk of developing forms have symptoms such as (MRI) scanner to take pictures of the progressive MS,” Dr. Reich says. paralysis and serious problems with brains of the patients with MS. His team previously published thinking and memory. His team then used a 3D printer to instructions for clinics on That’s why researchers at NIH and compare the dark-rimmed spots in reprogramming their lower-powered researchers around the country the scans with similar spots seen in MRI scanners to better detect are working hard to help detect the brain tissue samples. They found that these spots. The team hopes that disease early. patients with four or more of these researchers around the world will use The new study was conducted with spots were more likely to have the these instructions to develop better patients at the NIH Clinical Center, aggressive form of MS than those diagnostic and treatment strategies the largest research hospital in the without them. for people with MS. T “Our results point the way toward country. There, NIH researchers led SOURCES: National Institute of Neurological by Daniel S. Reich, M.D., Ph.D., used a using specialized brain scans to Disorders and Stroke; NIH Research Matters IMAGE: REICH LAB,IMAGE: NIH/NINDS

28 Winter 2020 NIH MedlinePlus Taking a daily aspirin no longer recommended for many older adults New guidelines recommend it just for heart attack and stroke survivors

MANY PEOPLE ARE TAKING a daily low-dose Pregnant women may aspirin even though they don’t need to. New National Institutes of Health-supported research suggests that nearly 29 million people want to avoid air pollution may be taking aspirin unnecessarily to help prevent a heart attack or stroke. Ten million of those people are 70 and older. in days before delivery In the past, experts recommended that people with heart problems take one low-dose aspirin a NIH study suggests potential link to day. Aspirin helps thin the blood to prevent blood increased NICU admissions clots, which can lead to a stroke or heart attack. But new guidelines recommend that only for AIR POLLUTION can cause problems for many people—but heart attack or stroke survivors. it may be especially harmful in pregnant women. Researchers also found that people were National Institutes of Health researchers found that pregnant taking aspirin even though their doctor hadn’t women who are exposed to certain air pollutants may be more recommended it. This can be especially dangerous likely to have babies admitted to the neonatal intensive care in people who are at higher risk of internal unit (NICU). bleeding, like those with stomach ulcers. Polluted air may cause inflammation in the mother’s body. This Make sure to check with your health care could harm the placenta, the tissue that connects the mother provider before starting or stopping any medicine, and the fetus. even one that is available without a prescription. The research included data from 220,000 women who gave Your pharmacist can also tell you which birth between 2002 and 2008. About 27,000 of those women medications may not work well together. T had babies admitted to the NICU. SOURCES: National Heart, Lung, and Blood Institute; Researchers looked at air quality data in the area where each NIH Research Matters birth occurred and when the exposure to polluted air happened, for example, the week before delivery, the day before delivery, and the day of delivery. The chances of NICU admission increased significantly if mothers were exposed to traffic-related air pollution on the day before and the day of delivery. More research needs to be done to confirm the study's results. For now, pregnant women may want to limit their time outdoors during air quality advisories near the end of pregnancy. T

SOURCES: Eunice Kennedy Shriver National Institute of Child Health and

IMAGES: ADOBE STOCK IMAGES: Human Development; NIH Research Matters

Winter 2020 magazine.medlineplus.gov 29 NIH Find it all in one place! on magazine.medlineplus.gov/otw theweb Online resources for safe infant sleep DID YOU KNOW that blankets shouldn't be used in cribs for babies under 1 year old? This is one of many tips that can help reduce the risk of Sudden Infant Death Syndrome (SIDS). The condition happens when a baby younger than 1 year old dies without a Vision loss meets clear cause. virtual reality To help raise awareness EVER WONDERED what vision and educate caregivers loss is like? about SIDS, the Eunice The National Eye Institute has created Kennedy Shriver National a new app that gives you a taste through Institute of Child Health virtual reality. The app, See What I See, and Human Development lets users experience effects of age- (NICHD) has developed related macular degeneration or cataracts a number of online on their phone or tablet. resources. All are available Those include blurriness and spots in on NICHD's Safe to your vision. Sleep® website and Users can choose from scenes, like a include up-to-date information reviewed by NIH researchers. city street at night, and then see how it You can see a diagram of what a safe sleeping environment looks to someone with vision problems. should look like or watch videos tailored to the type of The app is available for free on the Apple caregiver, like breastfeeding moms or grandparents. Store and Google Play.

Students speak up about mental health A NATIONAL ESSAY CHALLENGE encouraged students to address the challenges of stigma, fear, and improving mental health education and treatment, particularly in vulnerable populations. The National Institute of Mental Health and the National Institute on Minority Health and Health Disparities (NIMHD), in collaboration with the Calvin J. Li Memorial Foundation, sponsored the contest and selected winners from more than 160 entries from high school students across the U.S. and Puerto Rico. Take a look at the 12 winning and honorable mention essays on the

NIMHD website. ADOBE STOCK IMAGES:

30 Winter 2020 NIH MedlinePlus NIH is here to help The National Institutes of Health (NIH)—the nation’s medical research agency—includes 27 Institutes and Centers and is a part of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical, and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Institutes Institutes National Library of Medicine (NLM) National Institute of Arthritis and National Institute on Drug Abuse www.nlm.nih.gov Musculoskeletal and Skin Diseases (NIDA) 888-FIND-NLM 888-346-3656 (NIAMS) www.nida.nih.gov www.niams.nih.gov 301-443-1124 National Cancer Institute (NCI) 877-22-NIAMS 877-226-4267 www.cancer.gov National Institute of Environmental 800-4-CANCER 800-422-6237 National Institute of Biomedical Health Sciences (NIEHS) www.niehs.nih.gov National Eye Institute (NEI) Imaging and Bioengineering (NIBIB) www.nei.nih.gov www.nibib.nih.gov 919-541-3345 301-451-6772 301-496-5248 National Institute of General Medical National Heart, Lung, and Blood Eunice Kennedy Shriver National Sciences (NIGMS) www.nigms.nih.gov Institute (NHLBI) Institute of Child Health and Human www.nhlbi.nih.gov Development (NICHD) 301-496-7301 www.nichd.nih.gov 301-592-8573 National Institute of Mental Health 800-370-2943 National Human Genome Research (NIMH) www.nimh.nih.gov Institute (NHGRI) National Institute on Deafness and www.genome.gov Other Communication Disorders 866-615-6464 301-402-0911 (NIDCD) National Institute on Minority Health www.nidcd.nih.gov National Institute on Aging (NIA) and Health Disparities (NIMHD) 800-241-1044 (voice) www.nimhd.nih.gov www.nia.nih.gov 800-241-1055 (TTY) Aging information 800-222-2225 301-402-1366 Alzheimer’s information 800-438-4380 National Institute of Dental and National Institute of Neurological Craniofacial Research (NIDCR) National Institute on Alcohol Abuse Disorders and Stroke (NINDS) www.nidcr.nih.gov www.ninds.nih.gov and Alcoholism (NIAAA) 301-480-4098 www.niaaa.nih.gov 800-352-9424 301-443-3860 National Institute of Diabetes and National Institute of Digestive and Kidney Diseases National Institute of Allergy and Nursing Research (NINR) (NIDDK) www.ninr.nih.gov Infectious Diseases (NIAID) www.niddk.nih.gov 301-496-0207 www.niaid.nih.gov NIDDK Health Information Center 301-496-5717 1-800-860-8747

Centers & Offices Centers & Offices Fogarty International Center (FIC) Office of AIDS Research (OAR) Office of Rare Diseases Research www.fic.nih.gov www.oar.nih.gov (ORDR) 301-496-2075 301-496-0357 www.rarediseases.info.nih.gov Genetic and Rare Disease National Center for Complementary and Office of Behavioral and Social Sciences Information Center Integrative Health (NCCIH) Research (OBSSR) www.nccih.nih.gov www.obssr.od.nih.gov 888-205-2311 888-644-6226 301-402-1146 Office of Research on Women’s Health National Center for Advancing Translational Office of Communications & Public Liaison (ORWH) orwh.od.nih.gov Sciences (NCATS) (OCPL) www.ncats.nih.gov www.nih.gov/institutes-nih/nih-office-director/ 301-402-1770 301-435-0888 office-communications-public-liaison 301-496-5787 NIH Clinical Center (CC) clinicalcenter.nih.gov 301-496-2563

Winter 2020 magazine.medlineplus.gov 31 It's time to rewrite the story of sickle cell.

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