I originally started this blog to share my son journey as a SWAN (Syndrome without a Name) & I now include his younger sister who was born profoundly deaf so has her own journey too..,occasionally I will mention my older 2 kids who have no issues, it is just a place where I can get my feelings/thoughts out of my head & also to raise awareness...
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 firstname.lastname@example.org 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.