Managing Sickle Cell Disease
With improved quality of life and good management, persons with the sickle cell disease can live normal lives and achieve their aspirations. Martins Ifijeh writes
Tunde and his wife Kemi both have the AS genotype. They knew this before they got married, but were optimistic they would not give birth to children with SS genotype. They assumed worst still, they would rather have AS children, along with AA children. Their love was strong. Not even a genotype result few days to their wedding could break them. In their minds, since love conquers all, it will this time conquer the SS genotype when they start having babies.
Truly, it looked that way when their first child arrived. He had all shades of healthiness. He is AS, meaning, like their parents, he has the sickle cell trait. He wasn’t living with the disease, only with the traits. It was the least the parents prayed for. AA or on the alternative AS.
But their love couldn’t conquer the SS genotype in their second child. He is SS, and it took the parents over a year to notice this reality. They had celebrated his delivery after noticing he was just as healthy as his elder brother. But as months went by, everything began to change.
“In the very first few months, we didn’t notice he was different from his brother. All we saw was a healthy baby. So we concluded he must either have the AA or an AS genotype. Either way, we were planning to stop having babies just after two kids,” says Tunde.
“But as months went by, we started to notice he was different. His hands and feet were always warmer than usual, his feet unusually swollen, he was experiencing lack of sleep and loss of appetite, and most significantly, he would often cry for no just reason.”
It was at this point the Tunde’s decided to take him to the hospital where he was diagnosed with the sickle cell disease, a condition that affects about 150,000 newborns in Nigeria yearly.
“I and my wife immediately realised what we feared most has come upon us. We didn’t know what else to do than to ask the doctor all possible questions on management, treatment or even cure. We didn’t want our son to go through the pain we know persons with the condition go through. We also feared for his life, as persons with the condition are often said to die young,” he added.
But the doctor assured them that gone were the days when children die from the disease, especially because of proper management. “We left the hospital fully armed that day, knowing that with proper management, our son will live a normal life and as well grow into old age.
“I was told he could be cured through a stem cell or bone marrow transplant, which is a tall order because of the financial implication and significant risk involved, but on the alternative, we should properly manage him, an approach that will make him as healthy as his brother,” he said.
The Tunde’s decided to take the second option since the transplant, which is a definitive cure for the condition, is expensive for them.
“Our son is nine years old now and he is living very fine. We make sure he eats healthily, takes drugs when necessary, and does not involve in unnecessary strenuous activities that will sap his energy. We also make sure his teachers understand this, and help us put him in check in school. By making his health a priority, he is living well,” he added.
Tunde’s family is not the only ones with a child living with sickle cell disease. Millions of families across the country are grappling with the disease, with majority knowing just little about the disease and its management.
According to the World Health Organisation (WHO), Nigeria accounts for about 75 per cent of infant sickle cell cases in the continent with over 100,000 children dying from the disease every year in the country, while 40 million Nigerians are carriers and an estimated one million persons living with sickle cell disorder, making it a prevalence rate that has resulted in Nigeria commonly referred to as the country with the highest level of sickle cell disorder in the world.
Despite the high incidence of the disease, little is still known by Nigerians, especially those in rural and sub- urban areas, on the cause, management, prevention and a possible stem cell and bone marrow treatment.
Experts are of the opinion that the high death rate of the disease is highly preventable if there is proper management culture. They specifically advocate for increased awareness by stakeholders, Ministry of Health, health institutions, non-governmental organisations and public spirited individuals.
According to the Research Director, Fair Needs Africa, Lagos, Dr. Reuben Ogala, there exist proper management plans, such that persons living with it can lead normal lives and grow into old age. “Gone are the days when sickle cell disease is a death sentence. A sickle cell person should work closely with his or her doctor, eat good food and reduce unnecessary stress that could predispose them to crisis.
“In the United States, the life expectancy rate of a sickle cell person is 63 years, whereas the life expectancy of a person even without the disease in Nigeria is less about 50 years.
This, therefore tells you that with proper management, a sufferer can live even longer and healthier than someone without the disease,” he added.
He also explained that the disease can be prevented through genetic counselling, adding that when intending couples are educated on the disease, genotypes, risks, among others, it will help them in making informed decisions on whether or not to marry someone with sickle cell disease, the trait or someone with AA genotype.
Ogala, said that when both parents have the AS genotype, there was possibility of one in every four of their children having the SS genotype which is the sickle cell disorder; a diseases such a person will live with throughout his or her entire life.
He explained that a child born of the AS genotype has the sickle cell trait and can as well give birth to someone with the trait or someone who has the sickle cell disorder.
He believed that someone with AS genotype poses no threat until he or she mates with someone who also has the AS genotype or worse still, someone with SS genotype.
According to him, there are other situations where the sickle cell trait is combined with other hemoglobinopathies; abnormalities of the hemoglobin in the blood, which in itself poses a threat.
He said the major issues emanating from sickle cell disorder affect children more, as their tolerance level was low compared to that of adults, making them more at risk of the disease.
According to experts, sickle cell anemia is a disorder of the blood that causes the red blood cells to blow into a sickle shape.
These cells however do not carry oxygen efficiently to areas of the body where it is needed. Normal red blood cells have a 120-day life span, but people born with sickle cell disease have sickle-shaped blood cells that usually live not more than 20 days.
These sickle cells can get stuck in blood vessels, blocking blood flow and less blood flow can damage the body’s organs, muscles, and bones, sometimes leading to life-threatening conditions.
Also lending her voice, the National Director of the Sickle Cell Foundation of Nigeria, Dr. Annette Akinsetein, in an interview with THISDAY during one of their programmes, noted that in Nigeria, not many children with the disease grow into adulthood because of low awareness and management culture in the country.
She said gone were the days when SCD was a death sentence. “With proper information, the disease can be managed successfully, while the victim live a normal life.”
She said contrary to beliefs in some areas that the disease was caused by witchcraft or ogbanje, that it was of genetic origin, which through counselling may be prevented, as the genotype of both parents play the role on whether their child will have the disease or not.
She called on the government to come up with newborn screening policy where SCD can be detected early in children. “This is done in the United Kingdom and the United States, and it has greatly helped in reducing number of crisis or deaths arising from it.
Shedding more light on how to tackle the disease, the former permanent secretary, Ministry of Health, Lagos State, and pioneer Chief Medical Director, Lagos State University Teaching Hospital (LASUTH), Dr. Olufemi Olugbile, had earlier explained to THISDAY that due to the medical care available now, people hardly die young as it used to be because majority are living into full adults and even growing old.
According to him, people should be aware of their own genotype and that of their prospective partners.
“Knowing the risks involved hopefully reduces the prevalence of it. Inasmuch as counselling has a major role to play, one cannot make a law that, if the partners’ genotype is not compatible, then they cannot get married. It should only be advisory. People should either take it or reject it. But generally, awareness is the key to reducing the disease,” he added.