Dear Doctor

Dear Medical Professional, You will ask about his medical history, And I will repeat the story I have told 100 times or more, The details fine tuned to the essentials I know you need: He was born full term, He has a 7 year old brother who is fit and well, He is allergic to penicillin.  You will ask me what happened, And I will answer: He is 6 years old. He wasn't breathing for 7 minutes. I gave him mouth to mouth. I will hand over a careful typed piece of A4 paper. It will tell you his hospital number, The things he is allergic to, A list of medications and doses. You will take it and smile. You'll tell me I make your job easier. I will stand calm, And in control.  You see my demeanour, my hospital bags packed and ready, And you say, You've done this before. I'll nod and say many times. But remember this; That 6 year old is my baby. That boy with the oxygen, And the wires, And the tubes, Is my son. I watched him turn bl

Contacting my MP about rare, undiagnosed and genetic conditions

We're tweeting our MP - see how easy it is?

I've never been one for politics to be honest.  It was a significant part of my first year of my Social Sciences degree but I ditched it for Psychology as soon as I could. I guess I kind of na├»vely thought it didn't really have anything to do with me. I kind of didn't 'get' it.

And then I grew up.  And I realised how politics impacted every single aspect of our day to day lives.  And then I had Hugh and suddenly party policies on disability and benefits became extremely important to me.

I'd not heard of All Party Parliamentary Groups before.  Maybe you have, but if not:

All Party Parliamentary Groups (APPGs) are informal, cross-party, interest groups of MPs and Peers interested in a particular issue. Cross party means they have politicians from all the different political groups involved and so they are a great way to make sure everyone in parliament knows about the issues they cover.

APPGs are not funded by parliament and do not have any power to make laws but these groups can act as pressure groups for specific causes helping to keep the government, the opposition and MPs informed of parliamentary, expert and public opinion.
Genetic Alliance, who support the work of SWAN UK are planning to set up an APPG for rare, undiagnosed and genetic conditions.  This will increase awareness of these conditions in parliament, help ensure that families like ours have access to appropriate care and support and discuss issues relevant to families affected by rare and undiagnosed genetic conditions such as transition, coordination of care and research.
I emailed my local MP Jess Philips, to ask her to consider joining the APPG on rare, undiagnosed and genetic conditions.  It's easy to do - you too can find out who your MP is and email them here:
  • Because rare, genetic and undiagnosed conditions are often life-long and serious, affecting multiple systems of the body. Hugh is five now, but he still can't sit, walk, talk or even eat.  At this stage it is perhaps unlikely he ever will.
  • Because 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. We already know that Hugh's condition is both life limiting and life threatening, which means we, as parents, have to face the fact that our son will probably never live until adulthood.
  • Because the vast majority of rare and genetic conditions cannot be cured and most have no effective treatments. All we can do is simply manage the individual symptoms as they arise.
  • Because 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.  Without a diagnosis support has been much harder to come by, we have had to fight and beg and reach breaking point before Hugh's needs, severe as they are, have been taken seriously.  If you're interested, I've written more about the difficulty in accessing support without a diagnosis here.
We are unlikely to be the only family within our constituency 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 (that’s approximately 5,000 people in our constituency alone) 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.
So please for Hugh, and for all the children like him and families like ours that are affected by rare, undiagnosed and genetic conditions, please contact your MPs and ask them to join the APPG.
And Jess... if you'd like to meet Hugh and I and discuss how being undiagnosed has impacted our lives, we'd be more than happy to.
I'm not just rare ... I'm one of a kind #Hughnique
Want to find out more and use a template letter to contact your MP? Click here:  SWAN UK APPG Q&A