The reasons for this vary: there’s a lack of knowledge about results of newborn testing for the trait, parents don’t always convey test results to their children, gaps in state record keeping, and state records that identify people with the disease or trait only go back to 2012. Also, doctors typically only test for the trait when a patient requests it. And people often don’t know they can have the trait even when sickle cell disease isn’t in their family.

Dr. Biree Andemariam, director of the New England Sickle Cell Institute at UConn Health, said physicians should include trait testing in routine exams. “It should be standard care,” she said.

“It’s like knowing their blood pressure. At the end of the day, if I am a doctor treating a patient, it should be my responsibility,” Andemariam said.

Sickle cell disease is a genetic blood disorder marked by episodes of excruciating pain and can cause organ and joint damage, strokes, anemia and infections. According to the Sickle Cell Disease Association of America, the average life span of someone with the disease is in the mid-40s.

The disease primarily affects Black people and also occurs in Latinos and people whose heritage is from India, the Middle East, and Caribbean and Mediterranean countries.

The sickle cell trait usually doesn’t cause symptoms and never develops into sickle cell disease. It becomes significant when carriers become parents. If both parents have the trait, there is a one in four chance that each child will have sickle cell disease. If one parent has the trait, it can be passed on to each child.

Nationally, more than 2.5 million people, mostly Black, have the trait, the association reports.

Connecticut started testing all newborns for sickle cell disease and the sickle cell trait in 1990. According to state Department of Public Health (DPH) statistics, there were 17,952 babies born with the trait from 1991 through 2021. There’s no data to reflect babies born with it before testing began or the number of Connecticut residents with it who were born in other states or countries.

Contributing to the information gap is the fact that there is no record that the state reported positive trait results for babies born before 1995, five years after testing began, according to DPH spokesman Christopher Boyle. The earliest known DPH protocol for trait reporting was established in 1995 when letters were sent to primary care doctors and parents whose babies tested positive for the trait, Boyle said in an email. Department statistics show that 2,175 babies with positive test results were born from 1991 through 1994, before the notification protocol was enacted.

Dr. Biree Andemariam

Andemariam said that when babies are born with the trait, parents are told it is not an immediate health concern. “That information doesn’t get retained very well if a mother or father hears their baby has this thing, and it’s not going to cause them any problems,” she said.

“The sickle cell trait status is not going to have meaningful bearing on that child until they are going to have children of their own,” she said. The result is that parents typically haven’t conveyed trait status to their children, she said.

Because the state doesn’t keep identifying data for earlier than 2012, if an adult from Connecticut wants to learn the results of their newborn trait testing, “that information is not retrievable,” she said.

Dr. Donna Boruchov, medical director of Connecticut Children’s sickle cell program, said positive trait results “should be released at birth and should be released again when they’re 18.”

Andemariam said that when she does community education, she encourages mothers to keep newborn screening results just as they would keep birth certificates “to have with your child for life, so they know their status.”

In 2017, the state stopped sending positive trait results to parents, said Boyle, the DPH spokesman. Instead, he said, they are sent to babies’ physicians, who are expected to communicate them to parents.

Tests for the sickle cell trait can be done in doctors’ offices, labs or at the Connecticut chapter of the Sickle Cell Disease Association of America in New Haven.

One out of 13 African American babies is born with the trait, according to the Centers for Disease Control and Prevention (CDC). A DPH chart of newborn screening programs shows it occurred in one out of 62 of all births in Connecticut from 1990 to 2003. There is no racial breakdown.

Trait testing is key to preventing the disease, said James Rawlings, Connecticut chapter president of the Sickle Cell Disease Association. “We hear too often ‘if I had only known,’” he said.

Luzibu Chevannes of West Hartford was diagnosed with sickle cell disease when she was 9 months old. Her pediatrician tested her because her parents are from the Democratic Republic of Congo, which has the second-highest incidence of sickle cell disease in the world after Nigeria.

Now 33 and married, Chevannes wants to have a baby. Her husband, Boris, of Jamaican descent, tested positive for the trait.

The couple has decided to use preimplantation genetic diagnosis in combination with in vitro fertilization (IVF) to have a baby. That means her embryos will be screened for sickle cell disease and only an embryo without it will be implanted. In addition, because she is prone to life-threatening blood clots, they will ask a relative to be a surrogate mother.

“I just don’t want to take the chance of having a child with sickle cell disease and have them be miserable their entire life,” said Chevannes, whose symptoms include unpredictable, throbbing pain episodes and chronic hip pain. In 2020, she had a stroke that diminished her eyesight. She has also suffered from blood clots in her lungs, seizures, respiratory failure and pneumonia.

Cloe Poisson Photo.

Ashanti Rivera is pictured in the yard of her Waterbury home. Rivera has the sickle cell trait and her six children also carry it.

Andemariam said she has “seen decisions in every possible direction you can think of” after patients with the disease have learned that their romantic partner has the trait. “It’s devastating,” she said.

Some couples break up before becoming pregnant. Others use IVF, continue with a pregnancy, terminate a pregnancy, adopt a child, or, if a child is born with the disease, opt not to have another.

Boruchov of Connecticut Children’s said couples should be tested even if they say the results won’t deter them from proceeding with a pregnancy. She said it’s important for those who test positive to learn what to expect if their child is born with the disease.

Ashanti Rivera, 32, from Waterbury, who is Black, has the trait. She was tested at birth in New York. Relatives, including her 24-year-old half-brother, have the disease. He is doing poorly with kidney failure and heart problems. Two cousins endure severe pain crises that require hospital visits.

During Rivera’s first pregnancy, her husband, Xavier, of Puerto Rican heritage, tested negative for the trait. They now have six children, ranging from 9 months to 13, and all have the trait.

Rivera said she plans to tell them when they are in their mid-teens “when talking about relationships, babies and knowing your trait.”

In Connecticut, professionals who work with adolescents with the disease inform them about making sure their sexual partners get tested for the trait. “I want them to be prepared as they explore,” said Dr. Cecelia Calhoun, director of the adolescent-young adult sickle cell program at Smilow Cancer Hospital. “I definitely talk to them about how sickle cell is inherited when they’re ready to be sexually active or be with a partner,” she said.

Sickle cell specialists treat patients at Smilow, Connecticut Children’s, UConn Health, Bridgeport Hospital and Yale New Haven Hospital.

Nationally, it is estimated that about 100,000 people have sickle cell disease, although there isn’t a national registry to track it accurately. Teresa Works, a UConn Health social worker for sickle cell disease patients, said “the numbers are elusive” because people move in and out of the country and the state and people with mild forms of the disease may see private physicians and may not be reflected in statistics.

As of 2006, all 50 states, the District of Columbia, Puerto Rico and the U.S. Virgin Islands test newborns for the disease and trait. New York was the first, starting in 1975.

Brown, of Bridgeport, and Oliver, of New Haven, have sickle cell disease (SCD), a genetic blood disorder that causes excruciating pain, life-threatening complications and a shortened life expectancy. Almost one-half of sickle cell patients die in their 40s.

The disease affects some 100,000 Americans, about one in 365 African Americans and one out of 16,300 Hispanics; and in lesser numbers, people with Middle Eastern, Indian, Caribbean and Mediterranean ancestries. An estimated 2,000 people in Connecticut have SCD.

But the disease—discovered over 100 years ago—receives little research, funding and attention.

• Just two medications have been developed to treat the disease: hydroxyurea, approved in 1998; and Endari, approved in 2017.

• There is no national data registry for tracking the disease.

• Only four of the state’s 27 acute care hospitals have sickle cell treatment programs. And the last SCD awareness program by the Department of Public Health (DPH) was in 2007.

• A 2013 study in the journal Blood reported that cystic fibrosis, which affects 30,000 people nationally, receives seven to 11 times more funding per patient than sickle cell disease. The amyotrophic lateral sclerosis (ALS) challenge in 2014 raised more than $115 million for about 20,000 patients in the U.S. The bulk of the funds—$77 million—were allocated for research.

“I think it’s ignored because it’s predominantly a disease of inner-city African Americans,” said Dr. William Zempsky, a pain specialist at Connecticut Children’s Medical Center in Hartford, which treats children with SCD.

Derek Torrellas Photo.

Deborah Oliver at her home in New Haven. She was diagnosed with SCD at 4 years old.

The other treatment programs are at Yale New Haven and Bridgeport hospitals and UConn Health in Farmington. In total, they treat about half of the state residents with SCD, estimated Dr. Biree Andemariam, the UConn program director. There are no hard statistics on adults with SCD born before 1990, when the state started testing newborns for it. More than 660 babies were born with it from 1990 to 2017, according to DPH.

Andemariam said that about 1,000 patients get no care or go to emergency rooms when in crisis. She and Zempsky created an ER treatment protocol for hospitals without sickle cell programs but none of the Connecticut ERs they approached use it, she said.

Advocates say poor ER care has caused deaths due to lack of knowledge about SCD. Virginia Pertillar, executive director of Citizens for Quality Sickle Cell Care, said patients endure harmful, “unnecessarily long waits,” are accused of seeking opioids “to get high, not to relieve pain,” and are “mistreated or maltreated.”

“Quite honestly, because this primarily affects people of color in this country, some of the disparities in care and research dollars and pharmaceutical interests are intertwined with our country’s history of the marginalization experienced by people of color,” Andemariam said.

Dr. Gregory Buller, Bridgeport Hospital’s chief of medicine, said most SCD patients don’t have the income or clout to raise awareness, with many on disability or a limited work schedule. “If Warren Buffett had sickle cell disease, then the approach to it might be a whole lot different,” he said.

Treatment

In SCD, blood cells are sticky and deformed, causing clots, hampered blood flow, intense pain and, potentially, strokes, organ damage and breathing problems. Most adult patients have chronic pain. Children and adults have pain crises that erupt unpredictably and can last more than a week.

Bone marrow transplants are the only cure, but they’re risky and limited to very sick people who can find a donor match and who don’t have organ damage. Yale New Haven Children’s Hospital has done about a dozen successful transplants, said Dr. Farzana Pashankar, a hematologist-oncologist who specializes in SCD.

Pashankar said the hospital has expanded potential donors from siblings to also include parents and nonrelatives so more patients can be eligible for transplants.

University of Illinois Hospital doctors reported in April that they cured seven adults of SCD by using stem cells from family donors who previously would have been considered incompatible because their cells were only partial matches. One patient has died.

Dr. John D. Roberts, medical director of Yale New Haven’s adult sickle cell program, said because of the death, “what’s unclear is whether it was really successful.”   He said that the results translate to a 12.5 percent death rate, “probably too high.”

In Paris, doctors reported that they have cured a boy with SCD using gene therapy.  Scientists have called this development encouraging and promising but needing long-term follow up and more cases.

Treatments include opioids, transfusions, and the two SCD-targeted medications, hydroxyurea and Endari.

Jeremy Brown, a third-grader who wants to be an actor, has the most severe and debilitating form of SCD. Two years ago, he began taking hydroxyurea, a chemotherapy drug. He has been hospitalized once since. Before that, he was hospitalized at least monthly starting when he was 6 months old, said his mother, Tangi Small. Her husband lost a job after absences due to Jeremy’s hospitalizations. The couple and their four children became homeless, living in transitional housing for three years.

Derek Torrellas Photo.

Jeremy and his parents, Tangi Small and Jersino Brown, at their home.

Jeremy has endured intense pain in his arms and legs, fever, a distended stomach, bulging eyes and pneumonia. He can’t gain weight. Twice he couldn’t breathe on his own and was connected to a machine that removed some sickle cells and replaced them with normal ones. He has been prescribed morphine and oxycontin.

Oliver, a clinical technologist, has a different strain.  She has pain crises about once a year, for which she is hospitalized and gets blood transfusions. She had her gall bladder removed and a hip replacement due to SCD complications. She limps from bone deterioration in her other hip. She is frequently online, searching for SCD advice from other patients. She was diagnosed when she had pneumonia at age 4.

“I’m not afraid to die,” Oliver said. “That’s not a fear. My concern is not fulfilling whatever my purpose is. I try to live each day as if it’s my last. I try to get the fullness of each day. I have no regrets.”

Connecticut SCD program directors said they are reducing hospitalizations with outpatient care, including individualized care plans, managing pain and reducing stress with psychiatric care and social work counseling, non-opioid medications, and self-management of opioid use, depending on need.

Roberts said that in 2015, advocates successfully lobbied to include SCD among the debilitating illnesses eligible for treatment with medical marijuana. It was not included in the 2012 state law.

The median life expectancy for SCD is 42 for men and 48 for women, according to Kathryn Britos-Swain, state sickle cell coordinator. Fewer children are dying, but adult mortality is not improving. A study by investigators at Johns Hopkins University School of Medicine showed it got 1 percent worse each year between 1979 and 2005.

Derek Torrellas Photo.

Jeremy Brown and his cousin, Denosh Billie, 12, color at home in Bridgeport. Denosh also has SCD.

“This is obviously a concern to families living with sickle cell disease and to sickle cell physicians,” Roberts said.

Small said she cried when her son was diagnosed “because I knew people who had it and passed early.”  Four of her friends died from SCD at ages 17, 18, 21 and 32.

Research

Connecticut sickle cell research includes: Yale using synthetic marijuana to test marijuana’s effect on sickle cell pain; UConn studying quality of life, mental health, chronic pain, trauma and cell membranes; Connecticut Children’s working on a web-based tool to manage pain; and Bridgeport, Yale and UConn studying infections.

Pharmaceutical company interest in funding research has risen, but it is still difficult to get funding, Andemariam said, citing her inability to obtain funding to complete her work on SCD patients’ trauma.

Zempsky predicted better treatment options in the next decade as a result of new research. But, he said, “right now, the status quo is not very good.”

For information on sickle cell:

The National Health, Lung, and Blood Institute

 Sickle Cell Disease Association of America, Southern Connecticut,

Citizens for Quality Sickle Cell Care

Yale New Haven Hospital’s sickle cell programs

Sickle Cell Infusion Center, Bridgeport Hospital

New England Sickle Cell Institute, UConn Health

Connecticut Children’s Medical Center  

Connecticut Department of Public Health, sickle cell information

Children’s camp, parent retreats: Hole in the Wall Gang Camp