So today I went to Westminster to listen to the APPG on Rare, Genetic and Undiagnosed Conditions. They were talking today about undiagnosed conditions and the impact of DNA sequencing. As this has happened to Alex, I – somewhat nervously – talked about our family experience. This is what I said.
When I said I was happy to talk today, I hadn’t anticipated the request for a 10 minute talk. I’ve put this together in brief moments over the last few days. I’m really not a speaker, I’m a blogger, and I realise I’ve written a blog here.
I was asked to talk about being given a diagnosis, what it meant to us… but I wanted to also tell you about our son, Alex as that will give you some context and appreciation of our family and how we got to where we are today.
This is Alex. He is a beautiful, sunny little boy. He has a cheeky inquisitiveness about him that I love. He gives the best cuddles. He progresses slowly but surely. He’s crawling. I never ever – ever – thought he’d do that. I truly think one day he may walk. This both excites and frightens me in equal measure! But we push him on to develop because that’s what we as humans do. Instinctively I think. And we just hope we can manage it. And you can see how much he enjoys that independence of movement. Independence of decision.
This is Alex. He lives at home with me, his dad, and his sister, Emma. Their relationship is one to treasure. Sure he annoys her – and I love the normality of that. But they love each other. When Emma is away staying at her grandparents she always calls to’ talk’ to Alex. She sits in his room when he’s asleep and tells him her worries. She plays with him as only a sibling can – rough and tumble on the floor. She is fiercely loyal to him. She always cuddles him if he cries. She lights up his face like none of us can.
This is Alex. He has no over arching diagnosis. He cannot walk, talk, use a knife and fork or go to the toilet. He is reliant upon 1:1 – sometimes 2:1 – support for all his needs and care.
We realised pretty fast that something wasn’t right with Alex. We probably had about 8 weeks of enjoying our new baby before the doubt set in. I’m sure it would have been longer if we hadn’t already had Emma but we knew the trajectory a baby should be following and Alex just wasn’t on it. He preferred light and shade to faces, he didn’t react to smiles and crucially wouldn’t make eye contact.
‘He won’t look at me Mummy’.
Emma was 5.
Our first GP was hopeless. She diagnosed Aspergers and sent me on my way. I was so surprised – because I still couldn’t really believe that anything was actually wrong, not really, I was just asking for reassurance, to be told I wasn’t a neurotic mother – that I didn’t think to question her ability to diagnose that at 8 weeks. We went back for a second opinion. Our second GP took one look and thought neurological. He was very kind but you can’t soften that blow. When I look back at those times – at those long days of disbelief, anger, grief… I don’t actually know how we got through the days. I know I cried a lot.
We were desperate for an answer to what we were all asking: What’s wrong with him? Could we fix it? Nobody could tell us. Our paediatrician thought he was blind. It became abundantly clear almost immediately that he’d based this on absolutely nothing scientific. Just a gut instinct? Hopes raised and dashed.
Alex’s MRI came back normal. Blood tests revealed nothing. Lumbar punctures (my little boy held down shouting against his will. The one time I walked away) revealed nothing. And so we arrived – with alarming speed – at our genetics department.
We all want answers to questions. Alex was our question. With Emma our neuro typical child living proof that we could do this – what had happened? Was it something we had done? Had work been too stressful? Had I eaten the wrong food? Was our DNA out of whack? Should we want another child would it happen again? And… As and when Emma asked me if her children could be affected… Could I please have a better answer than ‘I don’t know?’
We are always amazed I think at how much ‘they’ don’t know and how much there is still to learn. Our geneticist took blood samples from everyone and sent them off for test after test after test. All came back negative. And as all the scary things were struck off the list… We were still no closer to an answer. When they suggested DDD we jumped on it. The last saloon chance if you like. We spat into our tubes, gathered spit from Alex who thought it was hilarious, and waited. And waited…
Spool forward two and a half years and you find a different family. One who’s got used to having their youngest with a disability… who have found support and comfort from both their friends, family and SWAN. One who now celebrated Alex’s achievements and worried far less about a diagnosis. Who have stopped spending their free time in hospital appointments and worrying at Google but instead are trying to build a life that works for them all. I’ve even gone back to work.
And then our letter arrived. Saturday morning. And I knew the moment I saw it what it was. I’ve thought about that moment a lot. Because I cried when I opened it. Because it changed our lives again. Blew apart our safety bubble and threw us back into all things medical. That weekend was hard because all the letter said was – we think we have something, give us a call. I couldn’t. Because it was a Saturday. Please don’t ever ever send letters out on a Friday. It just gave me two days to overthink, to try not to think about this Thing. What was it they’d found? I kissed my boy more than ever this weekend because suddenly he seemed so much more fragile than he had before.
It took me until 4pm to get hold of my geneticist. One of the longest days of my life. I rang everyone to try to get hold of her. And she was great. She talked me through what they had found – a dink in his DNA pointing to Noonan’s syndrome. And she told me what she knew whilst I googled it. A month and a half later we went in to talk to her in person. This was a very odd time as life went on as normal but this – what felt like – life changing meeting was coming. We discussed Noonan’s some more. I breathed out as it seemed remarkably benign. Although we all wondered if he fitted as Noonan’s children tended to be small for their age – Alex is not – their learning difficulties tend to be mild – Alex’s are not and – critically – there tend to be cardiac issues. Alex has none. But we like to believe data, to believe in numbers.
In the December to that initial May meeting another letter came out from our genetics department: ‘I have been approached by the DDD team to confirm that we do not feel that the CBL variant is the whole cause of his problems and they are pursuing an alternative variant about which they were not prepared to release details at the time. I am sure they will do so as soon as is possible’.
I rang and told them I didn’t feel this was an appropriate communication. It’s the equivalent to vague-booking, with the exception that even if I ask, there is no more information.
When families enter the DDD study and the like it is because there is nowhere else to go for answers. They are desperate. They are expecting a lot – and I include our family amongst those number when we joined up. We are hoping for our wizard of Oz moment. But time passes, and life moves on and we became almost afraid of a diagnosis. We liked the safety of a limbo status. And I know we aren’t the only ones. So this bundle of emotions – fear, anticipation, nervousness – all needs to be managed. Far more than it is currently. And maybe this is something that wasn’t considered when these studies were set up.
I understand the need to communicate and keep up to date… but I do feel there needs to be continual dialogue between DDD and the families it takes on. The importance of constant genetic counselling isn’t something to be underestimated. Family expectations change, needs change and this is life-changing information that’s being supplied here. It was always my ringing to ask if there were any news. Could there be a 6 monthly call, even if there is no news?
I don’t feel the needs of the family are being kept paramount. Sometimes science runs away with itself. I understand that everyone is different, and that budgets are tight but I feel that there needs to be a more tailored approach here. DDD and studies like it are on the crest of scientific waves but they aren’t operating in isolation, their results are not anonymous… they are impacting people here and now as well as improving people’s chance of a diagnosis in the future. There has to be a continuing dialogue as to how families would like information provided and also of managing expectations. That the answers – if they come – may just produce more questions. And I think that now the results are tumbling in those of us with results can help shape how the next set of parents are worked with.
This is Alex – a bundle of mixed up DNA, a conundrum. But please also remember that he’s not just a genetic problem to be solved: he’s our son, Emma’s brother, An intrinsic part of our family.
Mummy? Did you go somewhere without me today…?