Understanding congenital defects

Yesterday (3 March) was World Birth Defects Day. The day is aimed at raising awareness around congenital disorders as a cause of mortality, develop and strengthen surveillance for birth defects and prevention of major birth defects. The day is also important in light of the Zika virus, which was declared a public health emergency by the World Health Organization in 2016.WHEN Sheiddy Nsamba was born, his parents were devastated to discover that he had a defect that would stay with him for life.

published a story in January on how Sheiddy’s parents, Rayava Cecilia and Julius Nsamba, were grappling with his rare condition, although they remained optimistic.

Sheiddy (9) was born at the Rundu State Hospital in 2010 where doctors were not certain, at the time, how to treat his condition.

He had been diagnosed with pseudoarthrosis, a congenital condition, which his medical examination certificate classified as permanent, and could worsen over time.

Pseudoarthrosis is an abnormal union of fibrous tissue between parts of a bone that have fractured, usually spontaneously, due to a congenital weakness — also called a false joint.

Sheiddy’s parents knew the condition would alter his life severely. Nsamba recalled how helpless the two felt, not knowing where to seek the financial, medical and social care their son needed.

“Rayava was scared and I was confused about how this happened. In my family there are no people living with disabilities,” he said.

Her pregnancy was a healthy one. Cecilia said she did not experience any severe pain in her abdominal area. After he was born, Sheiddy was kept in hospital for a week until doctors referred him to Katutura Intermediate Hospital for better treatment.

Sheiddy, who was three months at the time, would get supplements treatment once a week for a month to make his body and bones stronger.

Despite on-and-off treatment, Sheiddy’s legs are permanently crossed. His hands are bent, and as a result of the pressure he exerts on them to lift his body weight, calluses from on his wrists.

Access to adequate and consistent medical treatment is a luxury for the family, who live in Windhoek’s Okahandja Park informal settlement and are unemployed.

His last visit to a medical centre was in 2018 as his family is struggling to provide him with adequate medical care.

Every year, about 3%-6% of infants are born with serious birth defects worldwide. This means life-altering conditions like spina bifida and congenital heart defects affect millions of babies and families.

In light of this, the centers for Disease Control (CDC) in Georgia, United States, declared 3 March World Birth Defects Day. Birth defects can affect all babies, regardless of where they are born, their socio-economic status, their race or ethnicity. “Birth defects are common worldwide; one in every 40 babies are born with a defect,” said Windhoek-based paediatrician Natangue Amadhila.

Although he cannot explain Sheid­dy’s condition, Amadhila believes that tracking and research on birthdefects are important for the following reasons:

To identify any inheritance pattern

(a) exposure to a particular chemical, drug or alcohol,

(b) exposure to radiation,

(c) nutritional imbalance, for example folic acid deficiency which may cause neural tube defects (e.g. spina bifida)

Ensuring healthy pregnancy

Although a defect cannot always be detected during a woman’s pregnancy, CDC states that there are things women can do before and during pregnancy to increase their chances of having a healthy baby, namely:

Taking 400 microgrammes of folic acid every day,

Visiting a healthcare provider before stopping or starting to take any medicine,

Not missing vaccinations, including the flu shot, Reaching a healthy weight before getting pregnant,

Boosting your health by avoiding alcohol and harmful substances during pregnancy.

The report also added that women of reproductive age get 400 microgrammes of folic acid each day to help prevent neural tube defects.

Through birth defects tracking and research, CDC can identify causes of birth defects, find opportunities to prevent them and improve the health of those living with them.

By understanding the potential causes of birth defects, there can be better recommendations, policies, and services to assist babies, children and families to cope and seek the best medical care for them.

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