Preventing complications that come with genetic, hormone-related and metabolic illnesses in Seychelles will soon be possible as the Ministry of Health readies to start screening babies born for six such conditions beginning mid-February.
Healthcare staff will start with the screening of children for Phenylketonuria, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Cystic Fibrosis, Sickle Cell Disease and Galactosaemia.
The Universal Screening Tool for Inborn Errors of Metabolism and Genetic Disorders, which is the new programme to be used, helps identify medical conditions that may not be apparent at birth but may cause serious ailments in newborns if treatment is not initiated early.
The consultant in charge for the paediatric department, Javier Rose, told the press that such screening programmes are necessary as “a lot of these diseases are not curable but they can be controlled with medicine and special diets.”
“These six conditions are quite rare and even if some of these diseases cannot be cured, children born with such diseases can be managed and hence can live a normal life with a normal life expectancy,” continued Rose.
Annually, there is an average of 1,600 live births in the island nation in the western Indian Ocean.
“In Seychelles, only a small percentage of children are diagnosed with such conditions, however, we should not focus on this small percentage but rather on the impact brought about by these diseases. Preventing complications is a huge plus for the child, his parents and the country,” he said.
Healthcare staff will be able to look for specific medical conditions by screening blood samples taken from newborns. (Salifa Karapetyan, Seychelles News Agency) Photo License: CC-BY
He explained that if some of these conditions are not treated at an early stage, children can become disabled. The child might not be able to attend school or will have to go to a specialised institute, and will require that certain services be made available. Additionally, a parent will have to stay home with the child, hence is unable to go to work which will have a socio-economic impact.
During the past 10 years Seychelles has introduced new screening programmes to detect diseases in children at an early stage. Currently all babies born at the Seychelles Hospital undergo a test called the auto acoustic emission to see if they have any hearing impairment.
Three years ago, a programme called screening for critical congenital heart defects (critical CHDs) in children was introduced to screen for heart defects and diseases in children.
With the acquisition of a Tandem Mass Spectrometer machine, a special equipment used to analyse blood samples, healthcare staff will be able to look for specific medical conditions by screening blood samples taken from newborns.
The cost of the whole setup, including the machine and reagents needed, is around SCR2 million and was a donation made by Constance Ephelia, H. Savy Insurance Co. Ltd, the Children’s Special Fund Seychelles and Friends of NEP Hospital & Hospice.
The test is non-invasive and is performed by taking a few drops of blood from the baby’s heel.
“We will let the baby feed first and within 24 hours following the birth, a nurse will take some blood, and a sample will be placed on a special filter paper that will be later analysed at the laboratory,” explained Rose.
Results from the analysis are received within a week of the sample collection and as laboratory staff familiarise with the machine, further screening for more conditions will also be conducted.
Early detection and timely treatment of these disorders can prevent long-term physical and mental disabilities or death.
Babies will later on be screened for other diseases and conditions using the machine, as technicians learn to better operate the equipment and the list of conditions being screened for is broadened.
“We acquired the machine from Finland. Last year they sent one of their scientists to Seychelles, who trained our lab technicians as to how to carry out these tests,” said Rose, adding that nurse also got trained on how to take the samples.