COUPLES who want a baby should have access to a genetic test on the NHS to detect links to an incurable condition, according to the chairwoman of a health campaign group.
Dr Sheonad Macfarlane has called for prospective parents to be able to have the pre-conceptual tests for a gene which may cause spinal muscular atrophy (SMA), a condition leading to the deaths of many sufferers in early childhood.
Dr Macfarlane made her call following the case of a mother who killed her three young children with SMA. The GP said the deaths of Olivia Clarence, four, and her twin brothers Ben and Max, three, who were killed by their mother Tania Clarence, 42, in New Malden, Surrey, in April, brought back to her the sorrow she felt when her own daughter Eilidh, five, was diagnosed.
Dr Macfarlane, chairwoman of the Scottish Council for the Muscular Dystrophy Campaign, said: "In the days after diagnosis, when devastated and heartbroken, when all our dreams lay in tatters, we could not imagine a life with a disabled child."
She said that, with the support of friends and family and through meeting other children with SMA and their parents, she started to accept Eilidh's condition and was given hope for the future.
Eilidh's bubbly personality and enormous sense of fun now brought her family much happiness, she said.
Up to one-in-40 of the population carries the gene linked to SMA. There is no risk if only one parent is a carrier, but if both parents are the child has a one-in-four risk.
Around 100 children in Scotland have SMA. Some, with the most serious Type 1 form of the disease, do not survive beyond their early years. Eilidh, with type 2, is intellectually able and goes to a mainstream primary school, but she cannot walk and has limited movement in her upper body.
Dr Macfarlane, who works as a speciality doctor with Marie Curie Hospice, did not know she and her husband David were carriers until Eilidh was 15 months old.
"David and I had a one-in-four chance of having a baby with SMA before we had even heard of it," said Dr Macfarlane, 39, who has also a daughter Niamh, seven, who is not subject to the condition.
"I support screening because of the impact SMA can have on the children and on families. It's about parents being able to have a choice which they can with other genetic conditions," she said.
Dr Macfarlane, of Giffnock, East Renfrewshire, said blood tests to identify the gene were available privately, but were not completely accurate. Research is going on to develop a better test.
Under pre-conceptual screening a woman would choose to have a blood test, and if found to carry the gene her husband could also be tested. If he was not a carrier the couple could go on to try for a baby normally. However if he was also found to carry the gene, the couple could opt to have a baby via IVF.
Dr Macfarlane hopes that while her daughter will need a carer she will have a reasonable life expectancy and be able to fulfil her ambitions to become a doctor, get married and have children.
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