Around 6,000 children are born in the UK each year with a genetic condition that can’t be diagnosed because it is so rare. These are called syndromes without a name. A proud mum who is a member of the Swan UK community has written an open letter to other parents of undiagnosed children.
Dear Mum and Dad of a newly undiagnosed child,
This Rare Diseases Day, I want to tell you that you are not alone. We are here, in our thousands, living amongst the mostly unaware. You are now a part of the undiagnosed community. I am guessing that you feel lost, bewildered and don’t know where to turn. We too have been through the shock and disbelief. You now have a child known as a Swan – Syndromes Without a Name.
No-one knows what the future will hold.
I will never forget being told that 9 out of 10 children presenting my child’s array of challenges remain undiagnosed. It was confusing and incredible that in the world of modern medicine, undiagnosed was even a thing. I was in denial, googling frantically, unable to accept there was no answer. Yet, we are still here six years later. The living proof. I can honestly say that we have never reached the point of acceptance, we search hard for that elusive diagnosis.
Please believe me, our life is lots of fun. Every down turns into an up. Our child is an inspiration who continually reminds us what is truly important in life. It will become easier to live with, I promise.
There are many positives.
Without a label, no-one will set a limit for your child. They are free to reach any milestone without hindrance. No-one knows what the future will hold. Hold tight to the hope and don’t let anyone take it away. Many of us have experienced the joy of our child exceeding medical and developmental milestones and, believe me, it feels like magic.
Your child is unique. This will create an incredible bond between you, no-one will know your child like you do. Medical professionals will turn to you for an insight into your bundle of joy. Any siblings will be equally special and treasured in a way you can only describe. The love of a Swan unifies a family.
It won’t always be easy.
I should, however, warn you that you will plummet into the world of genetics. It will baffle you, it still does me. One tip, unless you are a scientist, don’t buy ‘Genetics for Dummies’ – I couldn’t get past the first few pages. Progress in genetics is nothing short of fascinating. There is a good chance in your lifetime that the ultra rare disease your child has will be identified. When that moment arrives, your reaction will be mixed – excitement, relief, not being sure if you want to know. The possibilities for future treatment and therapies and the opportunity to meet others with the same condition will hopefully follow.
I can guarantee that you will be welcomed with open arms into the Swan UK community. It’s a generous and caring group. We cry as one and laugh together – there is always someone who has had a similar experience. It’s a virtual listening ear sprinkled with a few regional get-togethers to meet up in person.
It won’t always be easy. There will be tough times ahead. It will take time to come to terms with the absence of answers but make sure you take time to enjoy your child. Focus on the positives and always remember, you are not alone. We are here in our thousands supporting each other.
A proud mum
Visit SWAN UK’s website to find out more about the work they do.
You might not think it, but up to 30 million people may be affected by one of over 6000 rare diseases. Carole Villiers’ son Dexter is one of them. Read Carole’s blog where she shares the story of Dexter’s Angelman Syndrome diagnosis and how it changed her family’s life.