BBC Radio 4, Tuesday 1 April 2014
Presented by Jane Hill
In two poignant interviews for the One to One series on BBC Radio 4, Jane Hill first meets mother of three, Caroline Harding. Caroline has not one, but two children with the genetic disorder, hypohidrotic ectodermal dysplasia (HED).
We learn about the first 13 months of her eldest son's life, filled as it was with much heartache and worry, until they were referred to Great Ormond Street Hospital where the correct diagnosis of HED was made. Caroline describes the realisation of knowing that something was wrong with her first child within 11 hours of his birth. Tucked away in the corner of a stuffy maternity ward, her baby cried for the duration of the night.
On wrapping him up the next morning in preparation to take him home, his very red face was spotted by a nurse who insisted he was not well and they stayed in for tests. As his high temperature normalised and nothing showed up on the tests, the new family were allowed home. Just six days later, Caroline and her husband were back in hospital; a situation she describes as 'utterly terrifying' and a cycle which repeated itself many times until a diagnosis of HED was made.
The condition affects the hair, nails, teeth and sweat glands and a dangerous side effect is the inability of the body to properly regulate its own temperature. It is an X-linked genetic condition and passed down from a mutation in one of Caroline's genes.
With Caroline's second pregnancy, she had a test at 12 weeks to check the DNA of the placenta for the genetic mutation. This second baby was a healthy girl. However, Caroline admits to fertility issues on trying for a third child, suffering multiple miscarriages. On becoming pregnant with her third child, the test showed that she had another son - also an HED sufferer. Caroline explains her reasons for taking the tests as a way of coming to terms with the news, for safety and, she says, so that she didn't grieve for her child on the day of its birth.
Jane Hill's next interview with John Jennings focussed on his family's genetic predisposition to early onset Alzheimer's disease. Having had a grandfather with the disease and five of his siblings going on to develop it, it was his mother who pushed Alzheimer's researchers to test her and the extended family in order to prove there was a gene giving them a high chance of developing the disease. His mother's persistence paid off and in the early 90s researchers found a mutation in chromosome 21 – the first genetic link to Alzheimer's had been discovered.
His mother did not want to know the result of her test and John himself was not tested at the time. The mentality he shares with his mother is that they both 'could be hit by buses tomorrow'. Therefore, when he thinks about the possibility of having the mutation it is 'not as devastating as you might think'. But John does concede that thinking about the impact on others can be distressing and planning for the future is a definite consideration.
On hearing about the choices of others when faced with the impact of suffering from or having a predisposition to a genetic condition, it is hard not to question your own response and possible actions. With Caroline, she went on to have a second and third child with the knowledge that they could also have HED. But she did this wanting to be forewarned and prepared by the time of each birth – if she had a son and he had the mutation, he would have the condition. Things aren't so clear-cut with John and his family, as having the mutation gives only a much higher likelihood of developing early onset Alzheimer's. Ultimately, the risk of making drastically different life choices based on this potential of developing Alzheimer's could prove to be more damaging.
These interviews were sensitive and worthwhile – they gave an insight into the realities of inherited diseases, the choices available and the motivations behind the decisions made. Ultimately, it is difficult not to be moved by both of the interviewees' experiences.