Tri4Joe
Fighting against leukodystrophy

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.

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.

…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.

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

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.

• 

  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.