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But progress gives new hope to children with sickle cell disease
Martha Strong's son, Marrion, came out screaming.
"He was having his very first pain attack as he was being chased out of me," Strong said.
What she did not know then, but that she would learn very quickly, is that Marrion had sickle cell disease, a blood disease of genetic origin that can cause acute pain attacks and serious bacterial infections. in the blood, lungs, brain or bones.
In case of sickle cell disease, hemoglobin in red blood cells, usually round and supple, is curved like a sickle (hence the name of the disease). This strange form causes the agglutination of red blood cells, which blocks the blood circulation and causes anemia, extreme pain and susceptibility to serious infections, often life-threatening. Life expectancy varies between 42 and 48 years.
Strong knew that she had one Sickle cell gene and a normal gene, which means it did not have sickle cell disease but could transmit the gene. If both parents carry the gene, there is a 25% chance that their child will have the disease.
"All my life, I knew I had the sickle cell trait, but I never knew exactly what the disease could do," Strong says. "I pretty much found out the head first. My first reaction was confused and very frightened.
Early diagnosis
Sickle cell disease affects approximately 100,000 Americans. And by an overwhelming majority, these kids are black. The rate of neonatal illness is 73.1 per 1,000 births for African Americans, compared to 6.9 per 1,000 births for Hispanic Americans and 3 per 1,000 for Caucasian Americans.
Martha Strong then had four more children – two of them, Makayla, 4, and Monye, 1, also have sickle cell disease. Marrion is now 8 years old.
"For sickle cell disease, early diagnosis is essential," says Radhika Peddinti, MD, clinical director of UCCHL's program for the control of sickle cell anemia. Diagnoses are made through neonatal screenings that look for hemoglobin abnormalities, a common practice in Illinois since 1989.
"By the time babies [with sickle cell disease] Six to eight weeks old, we gave them antibiotics as a preventive measure, "says Peddinti, Strong's children's physician at La Rabida Children's Hospital.
The early introduction of penicillin is one of the most important advances in the management of children with sickle cell disease, preventing infections that were a major cause of death in the first five years of life. Peddinti says that these infections are extremely rare.
Like Strong, many parents are naturally terrified to learn that their newborn has a life-threatening illness. But fortunately, treatment plans are put in place almost immediately.
"The sooner you put in place comprehensive care, the better it is," says Peddinti. If neonatal screening is positive for sickle cell disease, "we examine the diagnosis and its contents, apply them to penicillin for prophylaxis, start immunization and place them as early as possible in the health system."
A disease with a stigma
Pediatric care for sickle cell disease, at least in areas like Chicago where health systems are of high quality, is generally quite comprehensive. In La Rabida, physicians follow a "home-based medical center model" – a patient-centered model of care that focuses on both preventive treatment and continuing and specialized care.
Children are closely followed and pain, infections and general diseases are treated as quickly as possible with the best resources available.
At age 18, however, children with sickle cell disease lose this complete support system. Adults with sickle cell disease are frequently found in emergency rooms to seek treatment for acute infections or pains. And with restrictions on opioid prescriptions, it's harder for them to get relief from the pain.
"It's a very stigmatized disease on on the adult side, "says Peddinti. Many doctors consider that adults with sickle cell disease who suffer from regular and excruciating pain are "mainly patients looking for drugs," she adds. "They are reluctant to talk about their diagnosis."
A future without a sickle cellular disease?
The stigma and lack of coordinated care in adults with sickle cell disease highlight the need for early and curative care. treatments. And there has been progress. In 2011, a patient with sickle cell disease at UI Health became the first person in the Midwest to receive a stem cell transplant as part of her treatment. Six months later, she was cured.
"The stem cell transplant replaces the stem cells of a patient, who make red blood cells with the sickle mutation, with the stem cells of a family member that can make non-sickle cell red blood cells, "said Santosh Saraf, MD, professor clinical medicine badistant and director of research at UI Health & # 39; s Sickle Cellular center.
"Sickle red blood cells are no longer produced, leading to … an improvement in red blood cell degradation, resolution of anemia and reduced red blood cell blockage." blood vessels, "he says.
Since this first patient, UI Health has healed 40 patients by bone marrow stem cell transplant, Said Saraf. Twenty-six were cured using completely parent-matched stem cells and 14 were cured using half-parent stem cells from a parent.
While the stem cell transplant, also called bone marrow transplant, is extremely promising, the lack of appropriate and available donors means that it is not yet universal treatment. When donors are paired with siblings, stem cell transplant is over 95% effective pediatric patients. However, only 18% of patients have a matched donor.
There are new drugs, especially a drug called Hydroxyurea, that dramatically reduces the complications badociated with sickle cell disease. There are also interesting things going on with gene therapy, with researchers working on isolation and, ideally, on correction, the molecular defect that causes the disease in the first place.
"Scientifically, we have a cure for this disease, "says Peddinti. "The problem is how many resources we pump into this and how accessible Is it to everyone? "
For Strong and his children, at least the support of a medical team makes all the difference in their ability to cope with the complications and diseases that result so often. of the disease.
"As a mother of three children with sickle cell disease, it's very overwhelming," says Strong. "Emotionally, you're frustrated, exhausted and you do not know what's the next step. You can start from the deepest so fast. "
His advice to other parents facing a diagnosis of sickle cell anemia with their child? Learn as much as you can and set up your support system as soon as possible. "Keep your faith," she said. "It helps a lot."
Above photo: Martha Strong and her son, Marrion, during a visit to La Rabida Children's Hospital. Photo courtesy Martha's forte
Originally published in the spring / summer 2019 print edition
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