Let me tell you a little bit about Unique, a fantastic charity working to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness. It’s a long one, but do bear with me.
When your baby or child is given a genetic diagnosis, you experience many emotions. Sadness – that your baby has something which is never likely be “cured”; Guilt – was it something you did?; Anger – why you / them?; Denial – it can’t really be happening to you, can it? And finally of course, fear. Fear of a future which no longer looks so certain.
When your baby is given a genetic diagnosis of a rare chromosome disorder with no other cases, you can add confusion and bewilderment to that list. Because nobody, not even the genetics doctors, know what exactly to predict. They can tell you to look for red flags and make assumptions, but nobody really knows what a baby with a rare genetic diagnosis is capable of achieving, or on the flip side, what challenges they may need to overcome.
When we were given Marigold’s genetic diagnosis of mosaicism trisomy 3q11, the genetics doctors were lovely, but couldn’t really tell us what to expect. We were sent away with advice to have regular appointments with the paediatrician and to treat her like a normal little baby girl – whilst obviously bearing mind that she is not strictly your typical baby.
It was a very lonely, dark and confusing place to be directly after that week in hospital. I was horribly addicted to Google. My iPhone was a permanent fixture at the end of my arm (even more so than usual) as I frantically looked for information, for stories of hope, for light at the end of the tunnel in the face of this news.
The genetics councillors did give us one helpful bit of advice. To contact Unique: the Rare Chromosome Disorder Support Group.
I was tentative at first as felt that by joining Unique, I would be admitting there was something “wrong” and I so hoped that Marigold would just turn out to be completely typical, with no issues at all. I was still firmly in denial at this stage. But then I felt I needed to do SOMETHING and hook myself in to some credible information rather than reading a lot of random threads on the Internet.
Unique was founded by Edna Knight MBE in 1984 as the Trisomy 9 Support Group and has now grown to a group membership of over 12,500 representing over 15,000 individuals with a rare chromosome disorder in over 90 countries worldwide. Nearly 150 new families join Unique every week. As more sophisticated methods of analysing people’s chromosome’s and DNA, like microarrays and next generation sequencing, many more undiagnosed children and adults will be receiving a diagnosis of a rare genetic or genomic disorder.
Just getting in touch with Unique was an instant relief. I felt part of something, talking to people who understand the world of rare genetic diagnosis, people who understood the place I was in and could offer a practical way forward. I was invited to join Unique’s 24 hour global café on FaceBook. At first, I watched from the edges. In my head, I couldn’t see how I would become an active part of this community. Everyone spoke so honestly and candidly about everything they faced. I couldn’t imagine ever admitting to strangers my innermost feelings and fears and asking for help. No thanks. I am British after all!
At first I observed with fear. So many conditions, so many challenges. I was thrown into a world that until now, I had been completely blinkered to. Tube feeding, mobility issues, behavioural issues, autism, ASD, sensory processing disorder, apraxia, dyspraxia, hypotonia, hypermobility, ADHD…..words and terms I had never come across. And I was frightened. So much to think about, so much to look out for!! I was overwhelmed.
But slowly, as I looked at Unique every day, I started to see so much more. Inspiring stories of unique children and adults and their achievements, of challenges overcome, of milestones reached, of people surpassing more than doctors had ever predicted. Requests for information with hundreds of responses from people genuinely wanting to help. So much support, knowledge, understanding and inspiration. And SO much love. Gradually, I started to engage, to like photos, to comment on stories and to be part of the Unique community. I met two friends, mums of unique ladies like Marigold with 3q duplications. They have become such an important part of my life and Marigold’s journey and I am honoured to be featuring their stories on here this week. I found other friends, people who I discovered by the magic of FaceBook, we have good friends in common with. There are people I know from Australia, the US, all over the world, a virtual global community of parents, carers and people affected by rare chromosome disorders who between them, are there 24 hours a day, 365 days a year to share knowledge, laugh, celebrate and sympathise.
One year on, and Unique is part of my daily life. Every single day I see something on Unique that amazes me, that inspires me, that touches me and that gives me hope. I couldn’t feel less isolated. I feel, more than anything, amazingly privileged to be part of this global community of incredible parents of Unique children, all of whom are with me, with my family, on this unexpected journey.
This week, June 7th – 13th, is chromosome disorder awareness week, a week when Unique will be working to raise awareness of chromosome disorders. Last year, two weeks after Marigold’s diagnosis, I watched from the edges. This year, through this blog, I want to celebrate Unique and some of the amazing parents and children I have met to raise awareness and make the world understand that although there are challenges, there is still so much beauty and hope to be found in a genetic diagnosis.