Thursday, 10 September 2015

A letter to my MP about rare & undiagnosed conditons

George Kerevan
House of Commons

Dear George Kerevan,

All party parliamentary group on rare, genetic and undiagnosed conditions.

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 ones condition and can struggle to access appropriate care and support.
My son Reuben has a rare genetic condition that doctors have so far been unable to identify and he is currently on the Deciphering Developmental Disorders Study which examines his DNA to try and find the reasons behind his disability. He has been on this study for 2yrs and 9mths and we still have no answers. We are facing the possibility that we may never know.
Due to being undiagnosed it means we are isolated and often have to fight to get certain services and support. Its only thanks to SWAN UK a charity who support families of undiagnosed children that I realised that I was not alone and that there are other families who are in the same situation as me. We all have no idea what the future holds as doctors cannot explain what is affecting our children. Despite all this our son is such a happy little boy who loves anything to do with music and water! In the last 4 years he has undergone many different tests to try and find a diagnosis and most tend to come back normal. The ones that come back abnormal have raised even more questions as they make no sense to the doctors and they think its tied to the undiagnosed condition he has. He has significant developmental delays and is unable to communicate his needs and I often have to try and work out why he is crying/screaming. He has absolutely no awareness of danger and needs constant supervision/care 24/7. He has a sleep disorder which prevents him sleeping as much as we do and some nights I don't even get to bed. It can be very hard and affects our family life. Can you imagine how hard it is living with such uncertainty? That is 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 others like us.
I am unlikely to be 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 ( 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.
The key aims of the APPG will be to increase awareness of rare, genetic and undiagnosed conditions in parliament and to help 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 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 an exceptionally important subject.
I look forward to your response.
Yours sincerely,
Jenni ( Reuben's mum) 

Wednesday, 9 September 2015

Professionals v Understanding & Awareness

Dear Mr Audiologist,

You saw my son for the first time yesterday during a hospital appointment to see the ENT consultant. I saw you look at my Hearing Dog for the Deaf then you glanced at me and carried on talking very fast. A quick interruption was needed to tell you I was profoundly deaf and needed you to talk slower, clearer and facing me. But that proved too hard for you as I had to rely on my mum to explain some things that I hadn't managed to lipread. Not impressed at all. Then you started doing this test, talking to my son explaining what you wanted him to do. I watched quietly thinking to myself " have you read his notes? What part of limited understanding don't you understand?" I could see my son just copying your actions, not concentrating as he didn't understand what was expected of him. I said that this kind of test wouldn't work but you wouldn't listen and kept trying and getting slightly annoyed until you said " this isn't going to work". You insists a different test is needed but it's already been done but you say it hasn't..I ask if you have even read his notes, checked computer? You checked there and then and realised I was right so you quickly told us there was nothing for you to do and told us to go to waiting room.

I really don't trained to become an audiologist so surely you should have awareness or understanding of deafness at least?! You are just like many other audiologists I have seen over the years. You all seem to think deafness means a person is just hard of hearing and should be able to communicate but in fact there are different levels and I am very profoundly deaf and as soon as you hear me speak you assume I can hear something. No matter how many times I ask you to slow down, face me when talking you ignore it and get annoyed everytime I ask you to repeat. Audiologists think they know best, that they know more about deafness because they have had the training etc but truth be told they know and understand very little. Their lack of awareness is shocking considering the profession they have chosen to work in. All audiologists should at least learn the basics of sign language, go on awareness courses to learn and understand more about "true" deafness. 

When it comes to special needs children needing tested many audiologists have very little understanding about why they will struggle with the tests, why they won't understand what to do... My son has been having hearing tests since birth and every time they cannot give us answers as apparently my son is too "complex" but yet they refuse to refer him to the main hospital and insist that he needs to "mature" a bit so keep asking us to return every 6mths, well enough was enough & finally a referral was agreed. Now my son needs an operation, one that could have been done a yr or so ago but because of his disabilities and your lack of understanding it's taken this long to get to where we are. 

You should be listening to us. We know & understand our disabilities. This is part of your job - understanding the disability and yet many of you are failing to do this and as a result there are a lot of frustrated people out there who are becoming more isolated.

Yours truly

A frustrated Mum (& deaf person )