07 March 2011
Senior Infertility Counsellor, St Mary’s Hospital, ManchesterAppeared in BioNews 598
ITV1, Tuesday 1 March 2011
Featuring Leah Garfitt
Unless you can be emotionally detached, this programme will affect your emotional equilibrium because it captures the unfairness of neuro-degenerative genetic disorders. It was filmed over two years and follows Leah who has Niemann-Pick disorder.
Over this period, you witness her decline. She loses her memory, eyesight and use of her muscles as though she had adult Alzheimer's. The film also highlights the extraordinary amount of care and other support her mother gave her throughout this period.
Niemann-Pick is a little-known disease that affects about 500 children in the world, and is passed to the child when both parents are carriers of the mutated gene. As her paediatrician said: 'it is a cruel disorder and one day there may be a cure', but not in time for Leah. Her mother first became aware of this disorder when Leah was six months old, and she appeared lacking in energy and fragile.
The disorder kills off brain cells and is always fatal. Early clues are the child is unsteady on their feet, and unable to have full eye movement. Eventually, as in Leah's case, development plateaus. She started losing her physical and cognitive skills, but still kept her sense of humour, made those around her laugh and could get enjoyment out of many things, including Disney World.
This film showed clearly the many 'costs' this disorder has on the child and everyone around them. The physical 'costs' to Leah were bad enough as she lost abilities, such as co-ordination, muscle use and communication skills. But there were physical 'costs' to her carers too. As Leah went back to being like a two-year old, they had to watch her deteriorate, care for her 24/7, carry her and alter their home.
You also see the immense emotional 'costs' of Niemann-Pick. Leah could recognise some of these initially, but became unaware of what was happening to her as her disorder progressed. For her mother, the emotional 'costs' were and are incalculable. She was reminded every day about what was happening to Leah. Her relationship had broken down early with Leah's father, although he maintained regular contact and helped with his daughter's care. He openly admitted he had tried to deny the truth of his daughter's condition.
To keep a sense of normality in Leah's life, she attended her local primary school. The other pupils seemed to simply accept she was different - a salutary lesson that children accept and include when young. The film also showed the importance of community support - her grandparents, classroom assistants, speech therapists, and specialist nurses helped Leah's mother with her care.
The film's music sentimentalised the story unnecessarily because Leah's dream was a powerful enough programme to stand on its own. Illnesses, such as Niemann-Pick, must be hard for film makers to watch and document. Perhaps this is why, although Leah's mother and father showed despair, the film makers sometimes glossed over some of the harder times.
But the devastating 'cost' of Leah's disorder was most obvious when she went to see her great grandmother who has Alzheimer's. The juxtaposition of two people with similar behaviours - one old, one young - was truly tragic.