Couple celebrate birth of child free of rare inherited disease

An Irish couple who discovered they were both carrying a potentially fatal gene when their first baby died have become proud parents of a girl free from an inherited disease.

The couple had underwent a revolutionary diagnostic process prior to an embryo being implanted.

The baby girl is the first child to be born free from Smith­Lemli­Opitz Syndrome in Ireland after undergoing PreImplantation Genetic Diagnosis (PGD) for the rare inherited disease. The couple, who are in their late 30s and early 40s and from Kerry, underwent PGD at the Waterstone Clinic after they discovered they were both carrying the gene which affects the production of cholesterol and which in turn leads to problems with organs like the heart and kidneys.

The couple learned they were carriers of the mutation gene when their first child died of the genetic disorder. But specialists at the Waterstone Clinic were able to prevent them passing the condition to their second child after undergoing PGD.

The centre’s head of research and development, Dr Xiao Zhang, said it was an important milestone and it follows two cases of children being born – in one case without cystic fibrosis and in the other without another genetic condition, Mucolipidosis, after undergoing PGD at the clinic. “We are really delighted for the couple. It is so important for us here at the clinic to be able to offer an effective PGD service, which requires a number of complex lab techniques to all function perfectly. The ultimate measure of PGD success is a healthy baby,” he said.

The success of the technique has prompted the centre’s medical director, Dr John Waterstone, to urge State funding for the treatment which can be quite expensive. It starts at about €10,000 for cystic fibrosis screening and then increases for rarer genetic conditions

“Preventing the inheritance of conditions like cystic fibrosis and muscular dystrophy would not only ease the pain and suffering of many children, but would also help reduce the spend on future healthcare services,” said Dr Waterstone.

Barry Roche