Dear Mr Kerevan,
Re: All party parliamentary group on rare, genetic and undiagnosed conditions
I would like to introduce you to my son, Benjamin. Here he is enjoying some of our beautiful East Lothian sunshine. He is nearly two years old.
Benjamin is thought to have a rare, undiagnosed, genetic disorder, which prevents his brain from developing normally. He is non-mobile, non-verbal and fed through a tube. He suffers reflux, hypertonia and epileptic seizures.
The last two years as Benjamin’s mother have been the most educational of my life. Before Benjamin, I had no idea…
No idea that there exist diseases so severe they can render a human being as helpless as a newborn for the duration of their life, yet so rare that their cause is unknown.
No idea that scientists can tell you a disease is genetic, but not be able to identify the gene that causes it.
No idea that ‘special needs’ can mean you need not only specialist medical care, but special transport, special schools, special toys, special housing, special shoes, special beds, special foods, special activities, special insurance, special holidays … all of which are more expensive than their normal counterparts.
No idea that without a diagnosis it can sometimes be impossible to access these essentials; that many parents have to fight until they are almost at breaking point, have to resort to fundraising among their friends and relatives, have to forego their own needs to fund their child’s.
No idea that having an undiagnosed condition can make it harder to get disability living allowance, to get registered as visually impaired, to get a ‘blue badge.’
No idea that we would have to wait many months for referrals to crucial medical specialists, for tests that may shed light on Benjamin’s exhausting seizures, for even an assessment of our eligibility for respite care, let alone provision of that care itself (we are still waiting).
No idea that I would sometimes have to get him, within one week, with my three-year-old daughter in tow, to four different appointments at four different hospitals, all of them miles from home.
No idea that the parents of many disabled children are forced to give up work or reduce their hours because they cannot find appropriate childcare.
No idea that, as parents of a child with an undiagnosed condition, we would worry daily about whether we caused the condition, whether our other children or other family members will be affected, whether we dare risk having another child.
No idea that one in 17 people will be affected by a rare condition at some point in their life, that in the UK one in 25 babies are born with a genetic condition, and 6,000 children each year are born with a genetic condition that will remain undiagnosed. Many of these will be in your constituency.
No idea how many skilled and dedicated people I would meet in the course of Benjamin’s treatment: doctors and nurses, physiotherapists and speech-and-language therapists, social workers, teachers, counsellors and psychologists. They deserve our investment and our support.
For all these reasons I am writing today to ask you to join the new All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions. (For my other readers, an APPG is an informal, cross-party, group of MPs and Peers concerned with a particular issue.) You, our representatives and policymakers, need to have more than an idea, you need to know what families such as ours are facing and what can be done to help. The key aims of the APPG will be to increase awareness of rare, genetic and undiagnosed conditions in parliament and to help ensure that the families affected by these conditions can access appropriate care and support.
I still have no idea whether Benjamin will ever roll over, sit up, laugh, talk, crawl, walk, hold a toy, or eat a meal. I have no idea how long he will live and who will look after him if he outlives me. I do know that he is a joy to be with, that he brightens our lives and deserves every opportunity to reach his full potential.
I hope that you will join the APPG and dedicate a small fraction of your time to this important subject. Do let me know your decision. The charity Genetic Alliance UK will be providing secretariat to the APPG, so please get in touch with them by emailing email@example.com or by calling 020 7704 3141, for additional information.
Alexandra Davey, mother