Born with missing limbs
Aug 09, 2013
Aisha Kawuma, 19, a resident of Nampirika village, Iganga district, carried her first pregnancy to term, but little did she know that her baby would not have legs. The baby only had a little foot attached to the hip.
By Agnes Kyotalengerire
Aisha Kawuma, 19, a resident of Nampirika village, Iganga district, carried her first pregnancy to term, but little did she know that her baby would not have legs. The baby only had a little foot attached to the hip.
Dr Charles Kiggundu, a senior gynaecologist/obstetrician at Mulago Hospital, describes the condition as phocomelia, a structural deficiency of body parts.
Phocomelia is a rare congenital malformation of the limbs. It may present with reduction in length of long bones of the legs or arms. In some cases, the hand or foot is attached to the end of the shortened appendage and other times there are no limbs.
Causes
Kiggundu says the malformation is associated with exposing the foetus to lethal substances, especially in the first 62 days of pregnancy. This is time when the formation of the baby’s body parts occurs.
Dr. Michael Osinde, a gynaecologist at Jinja Hospital, cites radiation as one of the effects, saying when a pregnant mother is exposed to the X-ray at a ‘critical time’ — when the baby’s organs are forming, such abnormalities occur.
He adds that self-medication could also cause the abnormality. This is because a mother may take medication that is prohibited during pregnancy.
In some cases, Osinde says, some babies are born with missing internal organs. He says some babies who die at birth or before, lack organs like lungs or liver. Some organs may also be partially formed, resulting in death of the baby.
Kiggundu says the prominent is the use of a potent drug called thalidomide during pregnancy. Thalidomide is a class of drug that was first released on the market in Germany in 1957. It was used against nausea to alleviate severe early morning sickness in pregnant women.
He says the abnormality can also result from use of local herbs during pregnancy.
According to online sources, the malformation could also be genetic. The gene that causes phocomelia is recessive. This means that both parents need to have the gene in order for the the birth defect to pccur.
If one parent has the gene and the other does not, the defect does not occur. Only 25% of the pregnancies between two recessive gene carriers will show the signs of phocomelia.
How common is the condition?
Kiggundu says phocomelia is a rare condition that affects one in 10,000 births worldwide. He says the condition mostly affects the legs, although it can also occur to other body parts, for example, the skull, face and ears.
However, Dr. Nassar Kakembo, a paediatric surgeon at Mulago, says the national referral hospital registers about one child with the malformation every month, on referral from other hospitals.
Can the condition be detected in pregnancy?
Kakembo says despite attending antenatal clinics, the condition can only be detected after 20 weeks of pregnancy with an ultra sound scan.
In circumstances where the abnormality is detected early alongside other malformations, the pregnancy may be terminated.
However, when noticed after birth, parents are counselled and advised to ensure that the baby receives all the care it deserves, including adequate feeding, immunisation and treatment of infections.
Managing the condition
Depending on the body part that is missing, team management comprising paediatric surgeons, orthopaedic surgeons, physiotherapists and occupation therapists is needed, says Kakembo.
This may involve designing artificial body parts like hands or legs to restore functionality.
In case a foot is attached to the hip surgical intervention is required.
Prevention
Osinde warns expectant mothers against self-medication because some medications may interfere with the normal formation of the body parts of the baby.
Additional reporting and picture by Jackie Nambogga