Development, however, brings new hope to children with sickle cell disease.
Marrion, son of Martha Strong, screamed.
"He appealed for the first time when he pushed me," Strong says.
She did not know at the time, but what she soon learns is that Marrion suffers from hereditary blood diseases that can cause sickle cell disease, acute pain, and severe bacterial infections From blood, lungs, brain or bone
In sickle cell disease, hemoglobin in red blood cells is usually round, flexible, and sickly, so it becomes the name of the illness. The odd shape is that red blood cells clump together to block blood flow and cause susceptibility to anemia, severe pain and severe, often life-threatening infections. Life expectancy is between 42 and 48 years.
Strong knowing what she did It contains sickle cell genes and one normal gene. This means that there is no sickle cell disease, but the gene can be delivered. If both parents have genes, the chances of a child getting sick are 25%.
"I knew in my life that I had the characteristics of a humble cell, but I did not know exactly what the disease could do." I found my head almost immediately there. My first reaction was confused and scary. "
Sickle cell disease affects about 100,000 Americans. Overwhelmingly, the children are black. The incidence of newborn infections is 73.1 per 1,000 black Americans, 6.9 per 1,000 Hispanic Americans and 3 per 1,000 Caucasian Americans.
Martha Strong has four children. Two of them, Makayla (4 years old) and Monye (1 year old), also suffer from sickle cell disease. Marrion is 8 years old.
"Early diagnosis is important for sickle cell disease," says Radhika Peddinti, UIC Medicine's Sickle Cell Disease Program. The diagnosis is made through a newborn screening for hemoglobin anomalies and is routinely conducted in Illinois since 1989.
"At that time, [with sickle cell disease] Give prophylactic antibiotics at the age of 6-8 weeks. "Says Peddinti, a powerful child physician at La Rabida Children's Hospital.
The initial introduction of penicillin is one of the greatest advances in caring for children with sickle cell disease and prevents infection, which was the leading cause of death for the first five years. Now Peddinti says the infection is extremely rare.
Like Strong, many parents are afraid to understand that the new baby is suffering from a life-threatening illness. Fortunately, the treatment plan is practiced almost immediately.
"If early neonatal screening tests are positive for sickle cell infections, then vaccinate with prophylactic penicillin according to the diagnosis and the results, start vaccination and connect to health care as soon as possible," says Peddinti. "
In areas with high-quality health systems such as Chicago, pediatric treatment for sickle cell disease is generally very comprehensive. In La Rabida, doctors follow the "medical housing model", a patient-centered treatment model focused on preventive care and ongoing professional care.
Children follow closely and pain, infection and common diseases are treated as soon as possible. The best resource possible.
But at age 18, children with sickle cell disease lose this comprehensive support system. Adults with sickle cell red blood cells often stay in the emergency room for infected or angry pain treatment. And because there are restrictions on opiate prescription, Pain relief.
"It is a very stigmatized disease. Adults say, "Paddinti says, a mature sickle cell patient is suffering from a periodic painful and extreme pain crisis and is considered by many doctors to be" most likely to seek medication, "and is" cautious about talking about diagnosis " He added.
A future without a sickle Cell disease?
Early treatment is required because of arrogance and lack of coordinated treatment for adults with sickle cell disease. cure. And there was development. In 2011, UI Health's adult sickle cell patients received the first stem cell transplant surgery in the Midwest. Six months later, she was cured.
"Stem cell transplantation surgery "Stem cells from patients who make spermatogonial red blood cells from a relative's stem cells that can make red blood cells that are not sickle-red blood cells," says Santosh Saraf, an assistant clinical medicine professor and translator. Research at UI Health & # 39; s Sickle Cell center.
"The diseased red blood cells are no longer produced … leading to red cell destruction, anemia resolution and red cell clogging. Blood vessels ".
Since the first patient, UI health has cured 40 patients through bone marrow stem cell transplantation, Sarah says. Twenty-six people were treated using fully matched stem cells from relatives and 14 patients were treated with half-matched stem cells from relatives.
Stem cell transplantation, This treatment, also known as bone marrow transplantation, is an incredibly promising treatment, The lack of a suitable and potentially harmful donor means that it is not yet a universal treatment. If the donor matches the sibling, stem cell transplantation More than 95% effective. Pediatric patients. However, only 18% of brothers are matched.
There is a new drug that drastically reduces sickle cell complications, especially the drug Hydroxyurea. Interesting things are happening also in gene therapy. Researchers have isolated and ideally corrected gene therapy products, Molecular defects that cause disease.
"Scientifically, we have a cure. About this disease, "says Peddinti." The question is how much resources we can put into this problem and how to approach it. Is this for everyone? "
Getting support from Strong and her children at least from the medical team will ultimately depend on how you can cope with the most common complications and illnesses Of disease.
"Three children have a follicular dermatosis, which is very overwhelming," Strong says. "Emotionally you are frustrated and tired so you do not know what the next step is.
Advice for children and other parents facing sickle cell disease? Learn as much as possible and set up a support system as soon as possible. "Keep your faith," she says. "It helps a lot."
Above picture: Marha Strong and her son, Marrion, visit to the hospital. Photos provided Martha Strong
Originally posted in spring / summer 2019 print issue.