SEVERE PAIN'S GONE: And no more bouts of pneumonia for sickle cell patient David Mota, 7. 'It's the drug,' says his mom, Mildred Mota.
Posted on 08/07/2003 11:52:16 AM PDT by bedolido
Seven-year-old David Mota is a changed boy.
Gone are his frantic trips to the emergency room with near-crippling pain.
Gone, too, are his bouts of pneumonia. Indeed, his mom Mildred believes her son will outlive the average 42-year life span of children born with sickle cell disease, the most common genetic disorder in the United States.
''It's the drug,'' said Mota, a Miami Beach single mom. She was referring to a new medication -- hydroxyurea -- doctors are prescribing to help children avoid painful joint and tissue swelling.
The drug is one of several recent developments -- a new clinic at Memorial Regional Hospital in Hollywood, tests for young children, and congressional efforts to fund national research -- in the treatment of sickle cell.
The disease afflicts 70,000 people in the United States, including one out of 400 African Americans and one in about 1,400 Hispanics. It's cutting a wider swath across the globe, with a growing number of cases in South and Latin America, the Middle East and Europe.
''It's bits and pieces here and there that make us better prepared to deal with the disease and doesn't render it as debilitating,'' said Astrid K. Mack, associate director of the University of Miami/Jackson Memorial Hospital Sickle Cell Center.
Sickle cell, stemming from a mutated gene, causes red blood cells to become sickle-shaped and hard rather than round and pliant. The sickled cells block blood vessels and cut off oxygen to organs and joints, leading to severe pain and swelling. Many people die of stroke, lung failure or other complications.
STRESS IS FACTOR
The blood cells sickle when patients are dehydrated, over-exert themselves, become stressed or are exposed to extremely hot or cold weather.
Babies born with sickle cell don't become ill until they are at least 6 months old. That's because their blood, called fetal hemoglobin, is resistant to sickling. Hydroxyurea -- given by pill once daily -- works because it increases fetal hemoglobin in the bloodstream. Patients like David can live pain free.
So far, the drug has been used primarily on teens and adults, although doctors are increasingly prescribing it to children 5 and older.
In the fall, the University of Miami School of Medicine will test the drug on kids as young as 12 months to 18 months. Researchers want to see if the drug can prevent organ damage common in young children. David, for example, has had his gall bladder removed and surgery on his spleen.
''Should you use the drug for a lifetime? We don't know if there are risks for people who take it 10 to 20 years,'' said Dr. Stuart Toledano, director of UM/Jackson's pediatric hematology/oncology department and lead researcher on the trial.
For many, sickling episodes send them to the emergency room several times a year. Many say they sit in the ER for hours in severe pain while patients considered more critical are treated first.
QUICK RESPONSE
But the new Sickle Cell Day Hospital at Memorial Regional Hospital in Hollywood -- one of three such clinics in the country -- allows sickle cell patients to bypass the ER and receive painkillers more quickly.
''It turns two to three days in the hospital into two or three hours'' at the clinic, said Phyllis Roland, 44. She was in a sickle crisis at the clinic one recent afternoon. The right side of her body was numb, her limbs swollen. Nurses gave her morphine and an anti-swelling drug to help her ease the pain.
''This is something that South Florida needed,'' said Thomas Brookins, a retired Miami-Dade corrections supervisor who was told he wouldn't live past his teens. He's 47.
The clinic opened in May and is modeled after facilities in Atlanta and New York.
Also in May, a Missouri senator proposed a bill in Congress to allocate $50 million over five years to establish 40 sickle cell treatment centers and to boost Medicaid funds to cover treatment. A House and Senate version of the bill is winding through Congress.
RESEARCH
Among the research projects underway: using umbilical cord blood donated by new mothers as a source of sickle-free hemoglobin to transplant into sickle cell patients; recruiting more African-American bone marrow donors to increase matches. Doctors can cure some sickle cell patients by transplanting healthy marrow from a brother or sister. If there is no sibling match, doctors look for an unrelated donor.
Long thought of as strictly an African-American ailment, the face of sickle cell is changing. Blond blue-eyed patients are now showing up at clinics across the country for treatment, said Allan Platt, program coordinator for the Georgia Comprehensive Sickle Cell Center in Atlanta.
''It's rare, but over in Greece and Italy there are whole families where there are huge pockets of sickle cell,'' he said.
The gene for the trait is prevalent in up to 38 percent of babies born in India, 10 percent of those in southern Italy, 27 percent of Greek babies and 5 percent each in Cuba and Puerto Rico.
Mota, who is from the Dominican Republic, said she had never heard of sickle cell disease until doctors at Columbia Presbyterian Medical Center in New York, where she lived at the time, told her that her then-nearly 15-week-old fetus tested positive for the condition.
She educated herself quickly and formed a parents' support group in New York.
''There are a lot of people who don't know what sickle cell is -- until they have a child,'' she said.
SEVERE PAIN'S GONE: And no more bouts of pneumonia for sickle cell patient David Mota, 7. 'It's the drug,' says his mom, Mildred Mota.
Still can't figure why they use retics to evaluate the seriousness of a crisis.
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