Last weekend we travelled to Birmingham to meet up with a group of other families with children with Chromosome 16 variations. We were fortunate to have two members of the Swiss research team in attendance. Professor Jacquemont and Anne Maillard had kindly agreed to do a presentation about their research findings into copy number variations (CNV) on chromosome 16. http://www.facebook.com/profile.php?id=100003110804345&sk=wall When the meet was initially arranged we intended to organise a carer to accompany us.Max isn't good in groups ,particularly if there is a lot going on and we knew it would be difficult to chat to the other parents and to listen to the researchers without someone to help look after Max. The usual guilt about not being able to cope without a carer surfaced and I decided that we could manage on our own!( big mistake).
On Saturday afternoon Richard , Max and I set off for the two hour car journey to Castle Bromwich. Those people who know Max well , will know that sitting for two hours in a car is not one of Max's favourite activities. I thought I was well organised and packed a bag with books, the IPad, colouring and snacks. Within 15 minutes Max had exhausted all the activities, thrown the food around the car and things weren't looking too good. He began to become agitated and we seriously considered turning round and returning home when he undid his seatbelt and started flinging himself around the car shouting " I don't want to go hotel, I want play football, I want new football boots now!" . Fortunately he calmed down within a few minutes and slept for the rest of the journey. We arrived at he hotel and managed to check in and get to the meeting venue without too much more trouble.
Once at the meeting we began to chat to the other families and to meet their children. It was lovely to have the opportunity to talk with parents in a similar situation to ours and to see their wonderful children. As the evening progressed it started to dawn on us that Max's difficulties were probably more severe than most. I am not minimizing the difficulties faced by the other children or the impact it clearly has on them and their families ,they are clearly very important, but Max is different to the other kids, his learning disability is more severe and his behavioural problems are significant. We chatted to Prof Jacquemont and Anne and they explained to us that Max's deletion is much larger than the usual deletions. The most common deletions are 0.5 MB and have approximately 29 missing genes Max's is between 7 and 9 MB and contains over 100 missing genes. Prior to this evening we had got an idea that Max's deletion was larger than the typical ones, but didn't really understand the relevance of this. As the evening progressed we realised that we had come to this meeting with false hope. We had been clinging onto a thought or feeling that we were going to meet children who were similar to Max but this wasn't to be the case. Prof Jacquemont carefully and gently explained that Max's deletion is in a different realm to most. The typical deletions on 16 p 11.2 have an incidence of 1 in 1000, Max's deletion has an incidence of 1 in 1000, 000.
We left the meeting reeling. Much of what we had come to understand to relate to had changed.
Nearly a week has passed since then and we have had time to absorb and process the information. Max is still Max, he hasn't changed and nor has our belief that he is the most Unique and amazing little chap you could ever meet. We know that we are fortunate, he is healthy and we do not face the medical complications that many families of Special Needs children face on a daily basis. However this week, the grief has surfaced again. We have both carried on gone to work, looked after Max, smiled and probably to the outside world not seemed any different, but this week that old scar has opened up again and it hurts. We will get over it, pick ourselves and carry on, but just for now those silent tears are being shed again and we need time to lick our wounds and recover and acknowledge that it hurts.