Jun 13
19
Girl Power
Last year I promised our lovely neighbour Isabelle that we would run together in the 2013 Grand Duc ultra trail of the Chartreuse mountain range and raise some money for ELA.
I’m sticking to my promise. On Sunday 30th June, we’ll be doing the team relay event: 5 women, four of us from the plateau where we live in St Hilaire du Touvet; Isabelle, Anne-Christine, Marine and I, and then Anne-Claire who lives in the valley. We’ll be doing a total of 80km of trail running, up and down the Chartreuse mountains, with me doing the last 15km leg and hopefully crossing the finish line with Joey in his wheelchair.
We’ve been training together in the snow, hail and rain and thankfully more recently in sunny and hot conditions. Together we’re doing this ultra-trail for Joey and his ELA friends, some of whom are very close to our hearts: Mael in Mont St Michel, Tristan in Paris, Marius in Lunel, John in Lyon, Laure in St Martin d’Abbat, Natacha in the Midi-Pyrenees, and our two ELA friends whom sadly died this year after their battle against leukodystrophy; Arnaud and little Marlon. My dream is that one day in the future there will be a treatment and a cure for each of the 34 different types of leukodystrophy. It’s a lengthy path of medical research and a costly journey but I believe that our continued efforts can one day make this dream a reality. Since Joey’s diagnosis and during our 6 years as part of ELA we have seen some great medical progress for some of the leukodystrophies. We want to see more progress and for all of them.
The fundraising started yesterday with a ‘cream-tea’ morning hosted by a great friend, Katrina, who is also Irish and we raised 130 euros from a morning of drinking tea and eating scones and strawberries. Nice training!
Our goal as a team is to raise a total of 2013 euros!
If you’d like to sponsor us, you can either donate direct to ELA.
(just let me know so that we can keep a tab on how much we’ve collected through this event)
or, send a cheque made out to ‘Association ELA’ and send it to me at:
11 bis Chemin des Rieux, St Hilaire du Touvet, 38660, Isere, France
Thank you!
Apr 13
18
Remembering Grandad Jimmy
Grandad Jimmy passed away on 31 December 2012 and today (18 April) is his birthday. Joey and Grandad had a very special bond; Joey would sit in Grandad’s arms and he would be very happy, cosy and extremely pleased to have Grandad all to himself, sometimes making his other cousins quite jealous! We miss you very much Grandad, Dad, Jimmy. You live on in our hearts.
Dec 12
17
VIP Joey meets the French President
Saturday was very special. Joey went to the children’s Christmas party at the French presidential palace in Paris where he met the French President; Monsieur Francois Hollande and his partner; Valerie Trierweiler.
Joey was invited to the palace along with some of his ELA buddies. In total, there were 600 children invited and the palace was turned into a magical Christmas wonderland. We arrived by train and then taken by bus with a police escort through Paris to the entrance of the presidential gates. It felt like we had won a golden ticket for Willie Wonka’s Chocolate Factory! The colours, the lights, the sweets, even giant Oompa Loompa’s entertained the children, along with lots of singers, dancers, comedians and musicians. Santa made a surprise visit too and he brought Joey an early Christmas present.
Magical moments like Saturday temporarily distract us from the daily reality of life with very ill children. Some of Joey’s buddies who have more aggressive forms of leukodystrophy may not have another Christmas. We made the most of this exceptional day. A day full of emotion for lots of reasons.
Oct 12
27
Mets tes baskets et bats la maladie
This week has been the week of ‘put on your trainers and beat the illness’ throughout national schools in France. Supported by the minister for education, a week of educating the young about leukodystrophy and fundraising for ELA has been carried out in 850 schools, with 250,000 students taking part. The week started off with children completing a dictation, written by a French novelist, covering the daily battle of leukodystrophy. Joey was welcomed at Ecole Notre Dame in St Martin D’Uriage and he ran with the children (in his pushchair powered by his daddy). He was presented with dozens of drawings wishing him well. We were very moved by the spirit and enthusiasm of the teachers, parents and children.
Oct 12
22
Going downhill…
…in a positive way! Joey and a few of his friends enjoyed a trial ride on a cimgo (quad bike steered and controlled by a pilote who stands at the back) yesterday at a nearby ski resort. Great fun! A definite ‘yes’ for a longer descent next time. A trial ride just wasn’t enough for our adrenaline junkie Joe. Thanks to ‘Handisport’ (Pierre, Francois and Claude) for making downhill biking a reality for Joe and his friends.
Oct 12
9
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.
Jun 12
28
Bravo
Quelle réussit. Bravo les filles. Super well done and thank you! http://ela.alvarum.net/isabelleruin
Jun 12
28
Allez les filles…
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.
Jun 12
5
Joseph celebrates the jubilee
Apr 12
15
Sophie Lynne Swift
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.
- 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?
Enjoying the spring sunshine
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.