A Unique Truth

Helen Burness - 16 Jul 15

When your baby is given a genetic diagnosis, you experience many emotions. Sadness – that your baby 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 fear – fear of a future which no longer looks so certain.

When your baby is given a genetic diagnosis of a rare chromosome disorder, you can add confusion and bewilderment to that list. Because nobody, not even the genetics doctors, know what exactly to predict. Nobody really knows what a baby with a rare genetic diagnosis is capable of achieving, or what challenges they may need to overcome.

When we were given Marigold’s genetic diagnosis of mosaicism trisomy 3q11, the doctors couldn’t really tell us much. We were sent away with advice to have regular appointments with the pediatrician and to treat her like a normal baby girl – whilst obviously bearing in mind that she is not strictly your typical baby.

It was a lonely, dark and confusing place to be directly after diagnosis. I was horribly addicted to Google. My iPhone was a permanent fixture at the end of my arm as I frantically looked for information, for stories of hope, for light at the end of the tunnel.

The genetics counsellor 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 (I was still firmly in denial at this stage.) But then I felt I needed to do something credible 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 month. As more sophisticated methods of analysing people’s chromosome’s and DNA, like microarrays and next generation sequencing are rolled out across the NHS, 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 could offer a practical way forward. I was invited to join Unique’s 24 hour café on FaceBook. At first, I watched from the edges. I couldn’t see how I would become an active part of this community. Everyone spoke so honestly and candidly. 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 blinkered to. Tube feeding, mobility and behavioural issues, apraxia, dyspraxia, hypotonia, ASD, SPD, ADHD…words and terms I had never come across. So much to think about! I was overwhelmed.

But slowly, 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. So much support, knowledge, understanding and inspiration. And SO much love. I started to engage, to like photos, to comment on stories. I met two friends, mums of unique ladies like Marigold with 3q duplications. They have become such an important part of Marigold’s journey. 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 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.

Last month, it was chromosome disorder awareness week. Last year, two weeks after Marigold’s diagnosis, I watched from the edges. This year, through a series of blogs including this one, I celebrated Unique and some of the amazing parents and children I have met on our journey to help the world understand that although there are challenges, there is still so much beauty and hope to be found in a genetic diagnosis.

Without the help and support of Unique I would never have found my voice. Thank you.

www.rarechromo.org

Helen Burness

Helen is many things: 80's enthusiast, die hard Inspector Morse fan, marketing consultant, frustrated writer but above all, devoted wife and mother to two beautiful children. Her daughter Marigold was born with a unique genetic condition, trisomy 3q11 mosaicim and it is through her experiences with Marigold that Helen has found her voice as a blogger. Helen writes to raise awareness and promote understanding of those affected by rare genetic conditions and to show the world that there is beauty and hope to be found in a genetic diagnosis. Helen lives in South London with her husband and rock Sunil, her 7 year old son Harrison (who also deserves airtime for being the best big brother in the world) and of course, the wonderful Marigold herself.

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