Tackling sickle cell disease

 

Uganda gets technology, improved care to extend life for sufferers

When Evelyn Mwesigwa, a social worker thought of settling down – marrying and having children, she considered a lot of things. Religion, love, respect and of course her partner’s HIV status. What never crossed her mind was a sickle cell test, she had no reason to. No one in her extended family had ever suffered from the painful genetic disorder that causes red blood cells to assume an abnormal sickle shape, making it difficult for blood to flow through vessels and deliver oxygen throughout the body. She only learnt about it when her second born; Jeremy, started developing strange symptoms at just three months old.

She recalls: “We wake up one morning and Jeremy’s foot is swollen. I go to hospital and the nurse says the kid must have hurt himself so she recommended an ointment. The foot healed but soon my son became a crying baby. Then he’s eyes turned yellow, they recommended a kidney test. It was negative. Meanwhile, he could become anemic very often”.

All this time, no doctor had ever recommended a sickle cell test. Then one day, a member of the congregation of her church in a pew behind her asked whether she had ever considered a sickle cell test.

“I was offended. I didn’t want to associate myself with this but after that he got so sick that I eventually zeroed on the test. It came out positive”.

“I didn’t know what to do. I was always in and out of hospital,” Evelyn says. Soon, she started being absent from work very often.

Many parents in Uganda share in Evelyn’s experience – only learning about the disease after it has struck. Prof. Christopher Nduggwa; a pediatrician and former in-charge of the Sickle cell Clinic at Mulago National Referral Hospital in Kampala with over 40 years of experience in managing the disorder, calls ignorance  “the biggest challenge” in dealing with sickle cell disease.

Evelyn agrees. A teacher beat her sick son because his hands could not write well. Another time on a very cold morning a teacher ordered all children to remove their sweaters. On both occasions the boy ended up in hospital.

Even medical workers do not know enough about sickle cell disease.  Nduggwa says many medical workers treat children unnecessarily without investigating what the real problem is.  In children, sickle cell symptoms are mostly the same as those for malaria so they end up taking malaria drugs over and over again.

But even with knowledge now, Evelyn says having a child with sickle cell disease is the scariest thing that could happen to anyone. “We live in fear. Now he’s playing and eating, the next minute he’s screaming in severe pain and he can hardly walk. It’s a struggle.”

Technology to the rescue

Dr. Charles Kiyaga the coordinator of the Central Public Health Laboratories in Kampala says the single surest way of ensuring disease-free offspring is for carriers to avoid marrying fellow carriers, something one can only learn if they screen before getting married.

Kiyaga’s laboratory, which is a government facility, offers the screening services. It also screens new born babies with an aim of ensuring early detection which leads to better management and survival. In 2015 alone, Kiyaga says, they screened 23,000 babies from 274 health facilities across the country.

After screening, aspiring parents with sickle cell disease can still get disease-free children.  According to Dr. Jamal Abduo, a fertility expert at Paragon Hospital in Kampala the partners can now do in-vitro fertilisation (IVF), an assisted reproductive technology where an egg and sperm are manually combined in a laboratory and thereafter an embryo is transferred to the uterus.

“The fertilized embryos are studied with their genetics. At three days, a biopsy is taken and a doctor can easily identify one with sickle cell traits and one that is free. We pick what we want and put it back in the mother’s womb”

While this is 30 to 40% successful, Abduo says what is very effective and of late available in Uganda is doing stem cell transplant.  While the actual operation is not done here, the doctor says some laboratories here can collect and store samples like cord blood or bone marrow and then send them to India for the final procedure to be done.

“A sickler’s bone marrow produces red blood cells with defective hemoglobin S. But a healthy donor mostly a close relative can donate them cord blood or bone marrow and they start producing normal cells,” he says. Before the procedure, the recipient is initiated on drugs (Chemotherapy) to destroy the infected cells before new ones being introduced.

However, while these procedures are effective, they are not for everyone. In India where cheaper transplantations are done, their charges start from about $20,000 (more than Shs60m) which is very high for an average Ugandan.