A quick letter to our MP – to ask for some cross party co-operation

Dear David

I know we have corresponded previously on our son, but today I am writing to you as my MP to ask you to join the All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions.

Rare, genetic and undiagnosed conditions are often life-long and serious, affecting multiple systems of the body. Many of them are progressive, meaning that the health and quality of life for affected individuals will continue to deteriorate throughout their lives and many of those affected will die prematurely. The vast majority of rare and genetic conditions cannot be cured and most have no effective treatments. Families like ours frequently experience delays in gaining an accurate diagnosis for their or their loved one’s condition, and can struggle to access appropriate care and support. Or simply find that no-one knows how better to help us and we get lost in the system.

My child has a genetic condition that doctors recently think they have identified – they think he may have Noonan’s Syndrome. This is quite a rare syndrome affecting between 1000 – 2,500 children worldwide per year. We are still early days in this diagnosis and there are many parts of our son’s symptoms that do not fit with typical Noonan’s children so in reality we are faced with more questions than answers. Most children with Noonan’s have mild learning and physical disabilities whereas Alex has quite severe and complex both physical and learning disabilities. I do not know what the future might hold for him – will he walk? Will he talk? Will he have a shorter life expectancy? What will happen to him when I die? It’s incredibly hard living with such uncertainty. Some days it’s ok and then something will happen, something quite small sometimes, and my world will empty over worrying about him. That’s why I’m asking you to join this APPG and to use the group to press for improved diagnosis opportunities, which in turn may unlock access to effective medical care and treatment for my family, and others like us.

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It’s unlikely that I’m your only constituent whose child is affected by a rare, genetic or undiagnosed condition. It is thought that about 50% of children with learning disabilities and 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties. Rare and genetic conditions are a significant cause of illness – 1 in 17 people will be affected by a rare condition at some point in their life and 4 in 100 babies in the UK are born with a genetic condition. It is estimated that 6,000 children are born a year with a genetic condition that will remain undiagnosed. That’s a lot of children, and that’s a lot of affected family members. And lives forever changed.

The key aims of the APPG will be to increase awareness of rare, genetic and undiagnosed conditions in parliament and help to ensure that patients and their families – families like mine – who are affected by these conditions, have access to appropriate care and support.

The charity Genetic Alliance UK will be providing secretariat to the APPG, so please get in touch with them by emailing emily.muir@geneticalliance.org.uk or by calling 020 7704 3141, so that they can provide you with additional information.

I hope that you will join the APPG and dedicate a small fraction of your time to what is – to us, and many many other families like ours – an exceptionally important subject.

I look forward to your response.

Yours sincerely,

Helen (Alex’s mum)

Please note: if you require any further information about the APPG please contact Emily Muir at Genetic Alliance UK, emily.muir@geneticalliance.org.uk.

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I don’t care how important this letter is Mum, I did say if you left it with me for for than a nano-second I would have to explore it some more…

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