Tuesday, 27 March 2012

Life goes on

When I last blogged it was about the emotional turmoil caused by discovering that Max's condition is much rarer than we had previously realised. The gut wrenching moment when the reality that your child's condition is very real, very rare and very significant hits you again. Of course this is not the first time that we have had to process unpalatable information about Max, but each time it feels just for a few days like you have taken a huge step backwards.
I think it's probably made worse in that a lot of the time we live in a bubble. We just get on with dealing with the here and now and don't allow ourselves to dwell on what the future holds or the true reality of our situation. It's our coping mechanism and most of the time it works quite well but it does mean that when reality does slap you in the face, it still feels as shocking and as raw as it did in the early days.
 Fortunately I seem to be have gained an ability to process things and bounce back pretty quickly. Being able to write about my feelings in the form of this blog helps and over the years I have learnt not to dwell on negative thoughts and to try and see the positives even when they sometimes seem hard to find. I am lucky that Richard and I are able to express our feelings openly with each other and we are in the fortunate position that it rarely causes disharmony. One thing that I do feel is useful is if we both receive information about Max at the same time. Obviously this is not always possible and can be very time consuming and impractical, but if at all possible attending conferences and important appointments together means we both hear the same information and are therefore able to then process and discuss it.
 So life goes on and we both seemed to have recovered our joie de vivre, put our heads firmly back in the sand and got on with caring for Max, planning for Disability Rocks and the many other jobs that occupy our time.
 Richard was recently appointed as Regional Parent Rep for the Yorkshire and the Humber region on the National Parents Forum. He attended his first meeting in London and felt privileged to be able to contribute to a Forum that influences National Policy in relationship to Disabled Children and their families.
 Max's behaviour has been much better I think mainly due to the warm evenings and him being able to play outside when he gets home from school. This is a bonus we never take for granted, the tangible relief felt at the end of a day when Max has only had minor outbursts is amazing.Every day is a bonus when things are good.
The card Max wrote for me at school was the icing on the cake! 

Friday, 23 March 2012

One in a Million

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. 

Friday, 16 March 2012

Piece of string

Human Chromosomes.

It took until Max was 6 to find the answer to the cause of his difficulties, a small deletion
 ( piece missing) from chromosome 16. The road to this discovery was a long and difficult one. I will try to explain the process and the emotions that went with it.

Prior to having a child with a disability  I assumed that if your child was born with a medical condition or disability that there would be a team of Professionals involved who would all use their skills and knowledge to support the family and advise on the correct diagnosis and treatment. Oh how naive I was! 

At sixteen months we were told by a Pediatrician that Max had global developmental delay and low muscle tone. We weren't given a leaflet, the name of a support group or a contact number . We were simply sent home to return for a Child Development Team Assessment several months later. So being the sort of person I am, I immediately turned to technology for answers. I spent hours, searching the internet, scaring myself silly, reading about life limiting conditions that I became convinced Max had. I joined an American Group for parents of kids with hypotonia ( low muscle Tone) and soon began to learn that these conditions are merely descriptions of characteristics that are common in many Genetic Conditions.  I read about the more common conditions that cause these problems and went for the next Pediatrician appointment armed with questions and expectations. He was tested for Fragile X, Prader Willi and several more, I can't remember. Each test involved an agonizing wait for the results only to be told they were  negative. Somewhere along the way we were referred to a Geneticist, again we wrongly thought there will be answers now! Max had a Chromosome test and we was told his " chromosomes were normal". Still no answers the Geneticist was vague, talked in Scientific terms and loved his analogy about chromosomes being like zips. Now I am a qualified Nurse and Health Visitor, science was never my thing but I'm not daft and can usually make sense of most things but i swear i left those appointments with only a small grasp of what we had discussed and still no answers! 

A couple of years passed during which time we convinced ourselves that a diagnosis wasn't important, Max was Max,no diagnosis or label would change that.

We were trying to convince ourselves it didn't matter, we might never know, it wouldn't make any difference and yet............... I felt lonely, isolated, I secretly envied parents whose children had Down's Syndrome, Autism, Cerebral Palsy. They had support groups, information, some idea how their child would progress but we had nothing. We had no reason , no cause, why had this happened to us? to our Boy?  I constantly searched my memory about the pregnancy, did I take some medication?, what about the 2 glasses of champagne I had at Christmas? My age? I was 38 when I had Max and Richard was 41, had our ages caused it? How could we have been so stupid to think it was alright to have a baby at our age? These thoughts filled my mind day and night, but how could I talk about them? I was scared, terrified, more scared than I have ever been in my life. At other times a lack of diagnosis meant denial, if they couldn't find anything wrong, maybe there wasn't anything! maybe he was just a laid back boy, after all Albert Einstein didn't speak till he was 8!  I remembered the nuchal fold test I had at 10 weeks into the pregnancy. The consultant was surprised by the result,the risk of Down's was very low but the risk of Edward's syndrome relatively high in comparison , was this significant? On and on it went, round and round in my head. 

Then one day I came across an organisation called Unique http://www.rarechromo.org/html/home.asp . Unique but not alone.....i started to explore their website and read about rare chromosome disorders and it was like someone had switched on the light. It made sense, Max shared many characteristics in common with the descriptions of the children featured in their publications. I became convinced that Max had a rare chromosome disorder. We went back to the geneticist armed with this new insight, he muttered and mumbled talked about zips and possible brain damage and still we were no further on. Frustrated I rung Unique and spoke to Beverley Searle , she was fantastic, she listened, she took me seriously, she agreed it wasn't in my mind, Max did share many features seen in rare chromosome disorders. Beverley suggested that we attend the up and coming Unique conference, where she could arrange for us to see a Geneticist.

The day of the conference arrived and Richard and I checked in at the hotel where it was taking place. I began to notice people with labels saying things like 1p del or 7 q dup, we collected our labels they said "unknown". I began to panic , we were intruding in a world we didn't belong ! At lunchtime it was our turn to see the Geneticist, we had prepared an information leaflet about Max highlighting  his difficulties and including details of his development and photographs of him. The Geneticist listened intently to us, then she asked permission to discuss Max with her colleagues. We willingly agreed. Later that day she came back to us. she said she was 99% sure that Max had a rare chromosome deletion. She advised that we go to our Geneticist and request a CGH array test. After she left we hugged each other not sure how to feel, our intuition was right but it was still scary.

On our return to Leeds we emailed our Geneticist to request the CGH array test. He told us that we would do it but didn't hold out much hope of it showing anything and that there was a long waiting list for tests of this type. We asked how long we should expect to wait and his response was " its a piece of string".

Several weeks later after offering to pay for the test ourselves and threatening to make a formal complaint  we received a call at 7 pm one evening to tell us that the CGH array had revealed that Max did in fact have a rare Chromosome deletion! No shit Sherlock!

Monday, 12 March 2012

Define Normal

What is "Normal" well to Max its many things including

  • eating ice cream and chips at the same time
  • standing naked on the bedroom windowsill 
  • carrying a dog thrower around despite not owning a dog
  • talking to random strangers about their dogs, motorbikes, cars and anything else that has captured his imagination at that moment in time
  • being given a " golden Handshake" from Mainstream school at age 6
  • starting the car engine at every given opportunity
  • crashing said car into house wall
  • asking a bald stranger " where your hair gone man"!
  • waking at 5 in the morning determined to wash the car, play cricket, visit the neighbours dog,  ride his quad bike or whatever fantastic idea that has popped into his head at that moment
  • throwing a major tantrum when parents don't agree to 5 am demands
  • calling his parents " stupid poo heads" !
  • banging doors and shouting and screaming when cant do what he wants
  • being extremely affectionate and giving wonderful hugs
  • being adored by everyone who meets him ( well almost everyone)

For us I am really not sure anymore whats " normal" but its certainly not the same " normal" it was 9 years ago. Would I change it? Well if you asked me that 8, 5 or even 3 years ago my answer would almost certainly have been yes, but now today writing down all the things that " define normal " for Max, makes me realise the fun and unpredictability he brings to our lives. Yes its a constant challenge and there are days when a calm , ordinary life appeals but on the whole our " normal" that would be so abnormal to most people is just fine for us. Max is fun, funny, spirited, adventurous and  because of Max we have met friends  and been to many places we would never have been to. He has opened our eyes to a " life less ordinary" and for that I am grateful.

Sunday, 11 March 2012

Disability Rocks

In June 2011 , Richard was made redundant form his job as a manager in the NHS. Shortly after this during a holiday in Ibiza the concept of Disability Rocks was born. During our stay in Ibiza we became very aware of all the club and party scenes and began to wonder just how accessible these events were for individuals with disabilities. Some friends took their children along to Ibiza Rocks and we realised that it would be impossible to take Max along to an event like this . On our return several sets of friends with children were talking about their experiences of attending festivals again we realised that attending a festival with Max would be very difficult if not impossible. These realisations triggered Richards dream of a concept of creating a festival that could be accessible to everyone.

Richard knew Bruce Fowler the Manager of the fabulous Nell Bank centre in Ilkley. It became clear that this would be the perfect accessible venue for the first festival to be held. He approached Bruce with his idea and to our delight was met with enthusiasm and positivity. Bruce is a truly inspirational person who has created a fully accessible out door centre which provides a significant inclusive environment and modern purpose built facilities.As is clear from the website Nell Bank is set in beautiful woodlands in a wonderful part of the Yorkshire Countryside. www.Nellbank.com.

 Having secured the venue, the next task was to organise some bands and performers. Richard began to tentatively put the feelers out and was amazed at the enthusiasm and generosity of people who were willing to give their time, energy and unique skills to make this event a success. We are extremely grateful to all those people who given their time and expertise to help make this event happen. 

It has been a steep learning curve for both of us, Richard in organising bands, photo shoots and submitting grant applications. I have taken on the Social Media side of the organisation and have recently had to familiarise myself with the art of tweeting!

We are both so excited about this event, what started as a holiday dream is fast turning into a reality. It will be a very emotional day for us probably requiring the wearing of dark glasses all day, whatever the weather! We intend to have a team of volunteers " helping hands" providing assistance to anyone who requires it. Emily has already ordered her festival wear and will be wearing wellies, denim shorts and a flower in her hair, just hope Richard doesn't decide to follow suit!

It will be wonderful to see people of all abilities enjoying the music, arts and comedy that will be on offer. We both feel passionately about improving societies' view of disability, we hope that our event will help to in some way send out the message that disabled people are talented, creative and resourceful and have a right to enjoy themselves just like everyone else. By showcasing the talents of disabled artists alongside providing an accessible venue we hope to create a wonderful experience with something for everyone irrespective of their abilities or limitations.

The finale will be sung by Inspiration-a vibrant  Community Choir .The resulting sound floating down across this part of the Wharfe Valley will be amazing.
For more details and to purchase tickets go to www.disabilityrocks.org 

Tuesday, 6 March 2012

Small step,giant leap.

Max's development progresses at "Max Speed, in Max time", like everything else about Max its Unique. One thing we have learnt to do over the years is to accept this, try not to worry when it seems to take forever to achieve things. The beauty of having a child with Special Needs is that other parents may note the milestones ,but we celebrate the inchstones, when those achievements come they are so sweet and the joy of them can lift me for days.

Today is a good day. We seem to have made a couple of leaps forward. Max is 8, he will be 9 in June. We started toilet training him at age 4. For the first 2 years he would have accidents numerous times a day. Over the last 2 years things have improved very slowly and nowadays he only has the occasional accident, mainly caused by him being too busy to go to the toilet. We still use pull ups at night but over the last few weeks they have been dry. This morning Max woke at 7 , his pull up was dry and he did the biggest wee on the toilet to which we all applauded. Now this may sound like a regular "normal" occurrence in most households but to us it means so much. Many a time over the years I have wondered will Max ever achieve full continence? will he always need to wear pads?. Now Max may take a few more weeks/ months before he is fully dry at night, it doesn't matter, we know he can do it now and to us that means the world. To all those parents out there with little ones with Special Needs never give up and remember it may take so long to achieve even little things but never stop believing in your child and don't forget to celebrate those inchstones.

Sunday, 4 March 2012


Max was born at 39 weeks and weighed in at 6lb 12oz. He appeared perfect and the Medical and Nursing staff remarked on what a beautiful baby he was. We were delighted with our long awaited little boy and Emily was thrilled to meet her new brother. Over the first two days in hospital a couple of little niggles fluttered through my consciousness, Max was very sleepy, cried like a premature baby and never once opened his eyes.Several of the nurses commented on his appearance and one Nurse even asked me if my husband was Oriental, a comment that caused Richard much amusement.When it came time for us to be discharged home  I mentioned my concerns to the Pediatrician undertaking his examination and she reassured me that he was fine. 

We were discharged home on 26 TH  June which was  my Mums Birthday,I remember her saying "he was the best Birthday present she could ever have". It soon became obvious that Max was struggling to feed from the breast. The Community Midwife visited every day and I tried everything possible to get Max to feed from the breast. After 10 days ad a visit to A and E , I was told that Max had lost a large amount of weight and would need to be bottle fed. This also proved difficult with him seeming unable to suck from the bottle , eventually we used teats designed for premature babies. Each feed took over an hour and Max had to be woken for feeds. He was slightly jaundice so his poor feeding and sleepiness were attributed to this. He was such a lovely placid baby, feed times were difficult but we soon learnt to accept that it would just take time.  With hindsight I realise that these problems were due to his Chromosome disorder but at the time I was so delighted with the whole experience of being a Mum again I just got on with it. Apart from at feeds Max was a lot easier than my friends babies, I secretly congratulated myself on being a relaxed second time Mum and thought that his laid back nature was due to this. I had no idea of the roller coaster ride we were about to undertake.

Friday, 2 March 2012

No answers

I promise this blog won't just be about me moaning. I am most of the time a very positive, glass half full sort of person. I have long since learnt to accept Max's disability and a lot of the time wouldn't have it any other way. I don't spend time thinking what would Max be like without his chromosome deletion, because he wouldn't be the Max we know and love without it. Max is funny, happy, full of energy and melts my heart on a daily basis. The love, pride and admiration I feel for this little boy is intense. Max has and continues to amaze us with his determination and sense of fun. He has made me appreciate things that before having him I took for granted , his innocence and the pure joy he experiences from everyday things is infectious. There is a but and that but punctuates our lives on a daily basis. The but is Max's behaviour. This evening we have experienced over an hour of Max hitting, biting ( us and himself), kicking, head butting and attempting to destroy our home. Why? I don't know the answer to " why". Is it behavioural? is it sensory?. How do we stop it? We have had years of input from a behaviour team, a learning disability nurse and a Psychiatrist. We have spent a small fortune on therapy. We have and still do use visual timetables, behaviour charts, time out, rules boundaries. He takes medication to attempt to control it. Things have improved in some ways, eighteen months ago he displayed these behaviours indiscriminately, at school and with carers. Now he saves these outbursts for Richard and I. They are shocking, scary and violent. They leave us and him drained and exhausted. They isolate us and him and at times leave us feeling desperate. It's lonely having a child who attacks himself and others. We are as a family pretty resilient. We try to deal with the crises and move on, but there are days when it feels so bleak and hopeless and I guess this evening is one of those days. We cope by drinking far too much wine and by getting some fantastic support from our carers. We both worry about what will happen if this behaviour continues as he grows older. Currently the pressure on Richard is immense he is the only one who is strong enough to restrain Max, which means he needs to be around almost all of the time.Most of all we both feel for Max , it must feel terrible to feel this intense rage, it's almost like something takes over him, he ends up red in the face and exhausted.I will continue to look for answers and solutions but currently there don't seem to be any that we haven't tried. We just have to hope that as Max's speech improves that he is able to find other ways of expressing himself that doesn't involve violence and self harm.