Inv Dup what?

Sitting in the chiropractors office a little over three years ago came a phone call that came with such a barrage of emotions that I simultaneously cried and felt relief. That phone call vindicated everything we had battled to figure out, yet also created more questions that were unanswerable as yet. The chiropractors appointment was for Hannah. We were still struggling with muscle tone and getting her to stand without her legs buckling underneath her at 18 months old. We were going to vast expense to try alternatives as we weren’t getting anywhere with the health service. Over those 18 months I heard every excuse for her lack of hitting milestones. “She’s lazy” to cite one doctor. “You’re just an over protective and hypervigilant first time mum” said another. We fought and fought. Changed healthcare providers then finally someone listened. Our new health visitor came to our house and listened while I listed what my concerns were. Let me tell you, it’s incredibly difficult to say out loud “I think there is something wrong with my child”. But to repeatedly do so and be repeatedly rebuffed it’s very hard to keep going. But we did and we got answers. The health visitor asked me once I had finished “What do you think is wrong with her?” I remember gulping and saying “Honestly, I think she has cerebral palsy” and for the first time someone didn’t look at me like I was crazy. She just nodded and said “I agree”. We were reffered to a paediatrician who decided in addition to an MRI scan we should do a genetic test called a Microarray. This would identify if Hannah’s difficulties were genetic or if they corresponded to a difficult birth where she had to be resuscitated. When that call came I won’t lie I was blindsided. Genetic. Like Downs Syndrome? My knowledge of genetics was limited I couldn’t even pronounce chromosomes correctly. I was 16 weeks pregnant with Molly. Would she have it too? The paediatrician said some people have deletions and duplications of genetic material and it means nothing however for Hannah we believe it’s significant. We were given an emergency appointment to see a geneticist in 2 days time and instructions to write a list of questions. I remember going home crying on the bus and realising that Hannah officially had special needs. She always did and I always new it but there was a finality to it if that’s the right word. That night I sat on the phone with my own mum and we read the only pamphlet online that exists about her condition. It was like someone had spent everyday of her life with Hannah and written specifically about her. I finally felt relief. I had a name albeit not an eponymous one which told me why she had her struggles. I had a direction to go in. There were others travelling our path we could connect to. It wasn’t my fault. Hannah’s condition is De novo meaning its a new genetic variation not inherited by either parent. The chances of having a second child with the same condition was smaller than having the first.  I could now research but more importantly now that we had a diagnosis suddenly we had referrals for Speech and language therapy, physiotherapy, occupational health, neurology, early intervention and a host of other therapies and appointments. My girl was going to get help. WE were going to get help. And most importantly we were not alone. Over the last 3 years we have connected with most of our “8p family” online and what a wonderful bunch they are. We are very lucky. We live in a progressive country with a world class health system, we have a host of information at our fingertips and we have an amazing daughter who defies the odds at every single turn. That geneticist told us not to expect Hannah to ever walk or talk. She has 5 words and pegged it down the hall this morning when I went to change her nappy only stopping because her coordination skills caused her to epically ricochet of the sitting room door into the couch where I caught a squealing giggling monkey with the biggest dimples ever. I say that first phone call had a finality to it with her diagnosis. In reality, it was just the beginning of an incredible journey. A journey of self discovery for all of us. A journey of loss, triumphs, grief and elation, sadness about also great happy moments.

 The best part is we are still writing it. Our journey is far from over and we get to shape it how we want with the odd curveball thrown in for good measure. 

Author: Rebecca Pender

Rebecca Pender is based in Glasgow, Scotland and one of her many hats she wears is mum to 3 young girls under 6. Her eldest daughter Hannah has an extremely rare genetic condition called Inv Dup Del 8p. She also lives with epilepsy, brain abnormalities and a learning disability. As a family they refuse to let any diagnosis or struggle define what they can or cannot achieve, they may just have to improvise the plans. A graduate of the internationally recognised Partners in Policymaking programme, a leadership programme for parents of disabled children and disabled self advocates, Rebecca is a huge champion of disability rights and is determined to break down barriers for disabled people in areas like inclusion, collaborative care with health providers and social injustice. You can follow her on Facebook and also on Twitter.

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