How an old drug is providing new treatment options for local sickle cell patients
It wasn’t worded this way, but the letter Crystal and Matthew Lozano received in the mail eight years ago, just weeks after their son Jacob was born, may as well have read: Life as you know it is over. The non-descript envelope from the state of Texas informed the Lozanos that their first-born son most likely had sickle cell disease, a serious disorder in which those afflicted produce crescent-shaped (hence the name, sickle) red blood cells, which don’t flow through vessels as easily as normal, round ones. Although wildly unpredictable in how it affects people, sickle cell disease makes those who have it more susceptible to severe episodes of pain, infections, frequent hospitalizations and shorter life spans.
All Texas babies are tested after birth for a variety of diseases, including sickle cell. The news was jarring for the Lozanos, and the new parents reacted in a very human way. Sickle cell disease is genetic, a fact that weighed heavily with Matthew. “Here we were thinking we had such a blessing to be parents and then we get the news that he might not live past his first birthday or past the age of 5 because of complications that can come with sickle cell disease,” recalls Matthew. “It breaks your heart, especially knowing that the way they get the disease is because both parents have that trait. You think, ‘Oh my gosh, what have I done?’”
Those initial worst-case scenarios have not befallen Jacob or his 5-year-old sister Olivia, who also has sickle cell disease. For the most part, to hear Crystal and Matthew describe their kids is to hear a perfectly normal parental tale. “Unless we make Jacob go to bed, he will go until he drops. It’s a fight to get him to go to bed,” Crystal says. “Olivia is the same way.” Which is not to say that the Lozanos haven’t had some scary bumps along the way, including trips to the intensive care unit and far too many nights in the hospital. But the relative normalcy that Jacob and Olivia enjoy is very likely due to the innovative and proactive treatment the siblings receive from Dr. Melissa Frei-Jones with UT Kids at the University of Texas Health Science Center at San Antonio. A pediatric hematologist-oncologist and the medical director of the South Texas Sickle Cell and Thalassemia Center, Frei-Jones is among a group of practitioners nationwide who are upending the traditional approach to treating sickle cell disease. “In the past, treatment involved waiting for the disease to show itself,” Frei-Jones says. “You wait until you start showing complications and then you intervene.”
But Frei-Jones is not the waiting around type. Instead of reacting to a patient’s serious symptoms or multiple hospitalizations, Frei-Jones has implemented an offensive fight in the Lozanos. To do so, she turned to a drug called hydroxyurea, a medication that has been used for decades to fight certain cancers and rheumatoid arthritis. Recently, research has demonstrated that this so-called chemotherapeutic can do something important for sickle cell patients. “When infants are born with sickle cell they still make fetal hemoglobin, and it protects them from the manifestations of the disease,” Frei-Jones says. The fetal hemoglobin blocks the sickling agent, but children stop producing it a few months after birth, which is why symptoms of sickle cell disease generally arise around the time they turn 1.
Hydroxyurea stimulates production of that helpful fetal hemoglobin. Though not a cure—the only cure for sickle cell disease comes through a bone marrow transplant, which has myriad risks and potential complications—it can dramatically improve a patient’s quality of life. “It keeps the red blood cells from forming those long rods,” says Frei-Jones. “If the red blood cells don’t change shape frequently, then they don’t get clogged in the blood vessles as often and patients have fewer pain episodes and their organs are not damaged as fast or as severely.”
Hydroxyurea is a form of chemotherapy, so there have been concerns it could cause problems many cancer patients face: a weakened immune system, mouth sores and hair loss. Since Jacob Lozano began the treatment a few years ago (on a lower dosage and with regular check-ups to monitor side effects), he hasn’t seen any of those symptoms, which generally impact older cancer patients. After Jacob’s success on the drug, Olivia also began taking hydroxyurea. The Lozanos still have to take all the normal precautions any family afflicted with sickle cell must follow, such as staying hydrated, getting enough rest and avoiding rapid temperature fluctuations. They are looking toward the future, though, with the kind of confidence they certainly couldn’t have mustered when that letter arrived in their mailbox years ago.
Matthew, in particular, shares the go-getter approach of Frei-Jones and stays up to date on the latest research, often sharing journal articles about sickle cell studies when the family has an appointment with the doctor. He also keeps in mind the experience of a work colleague, whose brother died from complications of sickle cell disease. “She says, ‘It’s amazing to watch your kids, they are so much better along than my brother was,’ (and) ‘If my brother would have started hydroxyurea, maybe he would be with us now,’” Matthew says. “Hearing her talk about that makes me sad but hopeful that we’ve come a long way in this disease, and maybe one day there will be something to improve the quality of life and the quantity of years. It makes you hopeful.”
Web Extra: Physical therapists at University Hospital have begun using an exoskeleton robot to help with treatments and are seeing rapid improvements in patients. Learn more about the innovative technique at sanantoniomag.com.