Six years already

We marked Joey’s sixth birthday by spending Saturday afternoon at the bowling alley with some of his friends and classmates.

After a few too many birthdays lost as to what we could organise for Joey and his friends, I took heart after one of the other Mum’s organised a party at a local play gym (she booked the entire place and had an ‘adapted’ set up arranged for the children). Inspired by her ‘can do’ attitude, I made a few enquiries and booked the bowling alley which I was promised could welcome disabled groups.

When we arrived Joey’s eyes widened as he thought the queue of about 100 kids were all there for him 🙂 It was a birthday session for about 12 groups. Our table, assigned for cake and drinks after the bowling, was easy to spot; we were the table with chairs only along one side. The adapted ‘ramp’ we were promised was a bit ‘system D’, as the French describe it ie: not much use, but we made the most of it and had some fun.

An email is on its way to the bowling alley politely pushing for a better and more adapted system which exists in other bowling centres (the first one I saw and my original idea to bring Joey bowling was thanks to Mr Tumble’s ‘Something Special’ on Cbeebies). The main thing though is that we celebrated and marked Joey’s birthday, for him and his friends, in a social setting, just like all the other kids there that day.

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Bravo

Quelle réussit. Bravo les filles. Super well done and thank you! http://ela.alvarum.net/isabelleruin

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Allez les filles…

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The best of luck and thank you to our neighbour Isabelle and her team mates who are running in the Grand Duc mountainous cross country team relay race on Sunday 24 June and raising money for ELA. Joey is pictured here with four of the five heroic girls (left to right): Armelle, Isabelle, Anne-Chistine and Celine.

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Joseph celebrates the jubilee

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Living in France didn’t stop us. We dressed for the occasion as well!

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Sophie Lynne Swift

Joseph and Sophie

Joseph is very proud of his new little sister!

2011 was an eventful year on a global scale, but it was also pretty eventful for us and, fortunately for us, in a very positive way.

On December 14th Sophie Lynne Swift arrived into the World. She is now four months old and is developing well. Joseph was a little bit suspicious at first, but has been amazingly affectionate towards her, although sometimes his cuddles and kisses can be a little brutal!

Sophie’s existence in this World is thanks to the wonderful medical research performed by Professor Yanick Crow and his team at Manchester, UK. Joseph’s illness is inherited, and any children that Colette and I have stand a one in four chance of developing Aicardi Goutieres Syndrome (AGS). Thanks to the research performed at Manchester, many of the genes responsible for AGS have been identified[1], opening up the possibility to have the developing fetus tested at a very early stage of development[2].

[The rest of this blog post is not intended to be a justification of the decisions we made, but will hopefully be of benefit to other couples faced with a similar situation to ours]

Obviously, the choice to have a second child was not an easy one at all. I’ll try to summarize the main points below:

  • Should we have more children?

    We decided that we really did want another child. Not only for the usual innate reasons that most couples want to have children, but also because we felt that another child would be a hugely positive influence on our lives. The positive psychological benefits brought to myself and Colette would rub off on Joseph: happier parents means happier children. Not only that – and we’re already seeing this – another child would provide a huge source of stimulation and fun for Joseph.

  • Would we be bringing him or her into the World for the right reasons, or for selfish reasons, i.e. for the benefit of us?

    I don’t think that we spent much time dwelling on this one: reproduction is a fundamentally selfish act anyway. No matter how much we humans want to think that it is a conscious informed decision, we are making the decision against a background of innate primal biological needs.

  • Would it be fair to bring another child into our lives? Would having a severely handicapped brother affect the child negatively in the years to come?

    I have no doubt that a child born into a family impacted by some form of severe illness will be influenced in some way. If we had had Sophie when Joseph was very young, when his illness was at its most traumatic, this influence would have been negative: Colette and I were in no state to bring up another child. Things are different now: Joseph’s condition is much more stable and the same goes for his parents. We felt we were ready to have more children. We were strong again. Even now, there’s still a question as to the impact AGS will have on Sophie in the long term. Joseph has taught us a huge amount about life and, therefore, he would be a very positive influence on his siblings for the same reasons. I’m sure that there will be ups and downs over the years, but I think we will all be stronger and better people for it. I hope. And that’s all we can do. Hope.

  • Sophie

    Enjoying the spring sunshine

    Should we take the test and accept a one in four risk of having an abortion? Or, should we just gamble the one in four chance and not have a test? In other words, if we decided to have more children, could we risk having another child with AGS?

    We decided that, if we wanted to have more children, we could not risk having another child with AGS. The burden on the rest of us, including Joseph, would be too much. I appreciate that some families have no choice in the matter, perhaps because they only discover that their children are ill later in life. We were fortunate enough to have a choice, and we wanted the best future for Joseph and ourselves.

  • If we took the test and the result was positive, would we have an abortion? If we chose to have an abortion, would it imply that we would have aborted Joseph if we had known, especially knowing what a very special and beautiful child he is now?

    This was perhaps the hardest part of the decision. Did the motivation to have an additional child outweigh the downside of risking an abortion? Abortion is often a contentious subject and everyone is permitted to have their opinions. It was a very difficult decision and one which required a lot of time plus medical and psychological help. It was especially difficult for Colette for many reasons and on lots of levels, physically and emotionally. Ultimately, I think our opinion was one that is very common: if an abortion must be performed then it should be carried out as early as possible. We were fortunate that the genetic tests could be done at around 7-8 weeks, with an abortion at around 10-12 weeks if the results were bad.

    A psychologist who was counselling us made a very interesting point that really helped us: usually if there is something fundamentally wrong with a developing fetus, then nature will take its course naturally and the pregnancy will self-terminate. In the case of AGS, nature is not doing its job properly, and we were merely helping it.

    As to the second part of the question, considering the illness he has, Joseph is lucky in the sense that compared to some other AGS victims, the damage caused by his illness could be a lot more serious. Even so, his first two years were a living hell for him. A second AGS child would very likely not be so lucky. We, as parents, have the capacity to cope with one child with AGS, but we still find it difficult for so many reasons and the thought of what the future holds for Joe and us living with this illness really scares us. A second child with AGS would make life unbearable for all of us.

It’s impossible to cover every aspect of the decision making process. It took us years to reach the point where we were ready to embark on having another child. I should also add that the pregnancy itself was not easy for either of us. The two month wait between finding out that Colette was pregnant and receiving the test results was unbelievably difficult. I will never forget the day we received the phone call with the test results.

Once we knew the test results, we found it difficult to accept or become excited that Colette was pregnant. Our first few weeks with Sophie were difficult as well: we were very functional with her and unemotional. It was like we were in some form of shock. We think, and we have heard similar stories, that we were still traumatized by our past and, as a result, we were protecting ourselves from getting hurt if something went wrong again.

Needless to say that we have finally regained our confidence and Sophie has completely won us over! 🙂

[1] Recent research has identified a seventh gene responsible for AGS. The gene responsible for Joe’s form of AGS is RNASEH2B

[2] There’s even the possibility to perform pre-conception selection using IVF techniques, however the long waiting lists ruled this option out for us.

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Stealing hearts

Foulee Blanche Jan 2011Matt insists that 2011 will be a better year. So far, so good.  Matt started his new job in January, Joey’s new cousin; Benjamin Matthew Brooker was born on the 12 February, and Joey will have another new cousin in Ireland in mid June. At the end of February, we spent a lovely week in Ireland catching up with family and friends. Joey had great fun with his 8 Irish cousins. Jack, the youngest, spent the week giving Joey loads of kisses ‘to make him better’ and was tirelessly showing Joey ‘how to eat’. His older cousins were asking lots of questions about whether Joey will ever walk or talk. It’s always difficult to find the right words or know how to respond.

Pirate Joe
Joey now spends three days a week at his special school. The overall objectives at the moment are on separation, socialisation and communication. He enjoys group activities such as listening to music, floor gym and painting using his hands. He also has one to one physio, occupational therapy and psychomotor sessions. He comes home smiling and has a little note book or ‘carnet’ which his teacher fills in each day to report on his mood, what he enjoyed that day etc. We in turn fill in what’s been happening at home and how Joey has been on the days when he’s not at school.

In general, Joey is in great form; he’s very happy in himself, has increased energy levels, improved body tone, and is quite vocal and uses a variety of different ‘dadada’ type sounds. Despite not being able to speak any words, he can clearly express when he either really wants or doesn’t want something. He is also developing quite a naughty streak, especially when it comes to opening and closing the oven door with a cake inside! His sideways glance and saucy grin tells it all.  He understands that this is forbidden but can’t resist the danger and excitement of being told off as he scoots off in his trotter giggling and squeeling loudly.

He continues to steal our hearts each day….

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Wishing you a peaceful, restful and happy Christmas

Love and special thoughts for this Christmas to all of you….. our dear friends and family who are near, far or no longer on this earth but with us in our hearts.

Hope Santa visits – his reindeers and sledge are well equipped for the snow so he has no excuses.

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A day of magic

Thank you Zinidine Zidane, all the team at ELA and the volunteers and staff at Disneyland for a magical day at Eurodisney in Paris, on Saturday 20th November 2010.

800 ELA families were united in putting aside their struggles for a few hours and instead enjoy the sunshine, camaraderie and sparkle of Disneyland.  We were guided by volunteers, led to the most suitable rides, taken to the front of queues, and given complementary meals. We were also joined by a long list of celebrities who came to help and raise awareness about leukodystrophy for the media and the public.

Joey was a little bit tired from the long journey there but enjoyed a ride on a rocket with his Daddy and was in awe of the music and lighting all around. Sadly, he fell asleep for the wonderful Disney parade finale, despite the very loud music! and woke up when the last float passed by.  Never mind, hopefully there’ll be another opportunity ahead.

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Joey amongst the stars

On Saturday 13th November 2010, Joseph will appear on National French TV with some celebrities who are giving their time to help with a national fundraising exercise for ELA. For friends who are in France, the show is called: ‘Les stars se depassent pour ELA’ and will be broadcast on TF1 at 20h45 local time. Joey will be with some of his friends from ELA and it should be an interesting weekend!

The following weekend we return to Paris where Joey will spend another day with his ELA friends at Disneyland. Rumour has it that we’ll be meeting Zinidine Zidane, so we’ll go equipped with jerseys and photos for signing!

In general, Joey is in great form and making progress all the time. He is making a really big effort to be understood, using his eyes to look at what he wants and intonation in a yes and no manner. It’s still a bit of a guessing game, but when we get it right, he now rewards us with a big smile and a mmmmmmmm. Matt and I are always impressed by Joey’s fighting character and determination.

Our friend, Uncle Bill, spent some time here with us in September and together with Matt, they have built a superb terrace around part of the house. This new ‘room’ gives Joey ample outdoor freedom in his trotter and we’re all so thrilled with it. So thank you and super well done to Bill and Matt for all the hard work. Next job is to put up a railing to stop Joey from sailing off the edge.  I also want to create a sensory garden in and around the terrace for Joey and his friends to enjoy.

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4 years old today

Happy fourth birthday Joey, our darling angel and hero.

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