BBC Radio 4, Tuesday 1 April 2017
Presented by Jane Hill
Every parent has a fundamental and innate desire to protect their children from harm. But what do you do when your first child is diagnosed with an incurable genetic disorder? Do you insist on having all your subsequent pregnancies tested, and how do you deal with a positive result?
Caroline Harding, CEO of Genetic Disorder UK, gives a poignant description of the emotional toll of being in just such a position. This was the first of two episodes of the One to One programme about people from families affected by genetic diseases: exploring the emotional impact of a family member's diagnosis and how relatives decide whether or not to find out if the condition will also affect them.
Presenter Jane Hill tells the listener that her interest in making the programme was sparked by personal experience: her own father and uncle are both living with Parkinson's disease. Current estimates indicate there are about 4000 to 6000 diagnosed genetic disorders, with one in 25 children in the United Kingdom affected by a genetic condition and up to 30,000 babies and children newly diagnosed each year (Genetic Disorders UK).
Harding relays how she discovered all was not well with her first child just as she was discharged from the hospital after giving birth. She describes how a nurse looked at her son – who was wrapped in a blanket ready to travel home – and said, 'Something is wrong with your baby.'
As she looked, Harding saw that her baby was 'bright red' in colour, the first indication that something was awry. Subsequent medical tests and assessments confirmed a high temperature, but clinicians were unable to diagnose the cause. That marked the beginning of a 13-month journey which Harding describes as both terrifying and frustrating, as she came to realise that her physicians were just as in the dark as she was.
According to Harding, her preoccupation after the birth of her first child was 'making sure her baby did not die while he was sleeping'. She slept next to her baby's cot, keeping constant vigil. They were in and out of hospital every other week during her baby's first year of life; often having to call an ambulance saying, 'We don't know what is wrong, but I know something is because my baby can't breathe'.
Eventually, Harding's son was referred to an immunology specialist at the Great Ormond Street Hospital who diagnosed her child with hypohidrotic ectodermal dysplasia (HED) – a rare and incurable X-linked genetic disorder that affects the nails, hair, teeth and mucous glands. Patients with HED are unable to sweat properly, with associated difficulty in regulating body temperature.
The health problems associated with genetic disorders are one of the most common causes of death in children aged under 15 in the UK. Children with HED are in the most danger during infancy, when they risk overheating, or suffocating from blocked nasal passages due to build-up of mucous.
As the listener, it was quite harrowing to listen to Harding describe her 'unspoken sense of guilt' and fear, feeling like she was 'damaged goods' and her worries that her husband might not want to have more children with her. The couple have since had two more babies, and Harding expands on their decision to undergo chorionic villus sampling (CVS) during her subsequent pregnancies, both as a precaution and to prepare should the diagnosis be positive. CVS is a prenatal test that diagnoses genetic disorders in the fetus at about 10 – 12 weeks of pregnancy. Harding's second child was HED free, and her third – a boy – was diagnosed with the disease prior to birth.
As the interview drew to a close, listeners got a glimpse of the beauty of a child's perspective, as Harding described relaying the news that her third child had HED to her other children. Upon hearing this her first son leapt up in sheer joy and squealed 'Ahh, a baby like me', which for me was the highlight of the interview.