Dear Derek Thomas,
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 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.
I know first-hand how hard this can be. My son, Freddie, has a rare, genetic condition which so far the doctors have been unable to diagnose. All we have been told is that he has a complex neurodevelopment condition.
At the age of 5 Freddie suffers with severe developmental delays leaving him unable to walk or talk or attend a mainstream school. He has suffered with feeding issues since birth so is partially fed through a gastrostomy. He takes 14 doses of medication daily to help control his epilepsy, reflux, constipation and excessive drooling. Freddie is now beginning to develop scoliosis due to his inability to control his posture correctly and is doubly incontinent. The list could go on. Freddie requires 24 hour care to maintain his high care needs.
Living without a diagnosis is very isolating. It is hard to answer questions about my child and it can be very difficult for me to get my child’s needs taken seriously. I do not know what the future might hold for them – will they walk? Will they talk? Will they have a shorter life expectancy? Can you imagine how hard it is living with such uncertainty? 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.
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 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 an exceptionally important subject.
I look forward to your response.
Yours sincerely,
Hayley Gwilliams
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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