Tri4Joe

We’ve just come back from the opening ceremony of The ELA Cup organized by our local football team AS Gresivaudan at Pontcharra. The football tournament kicks off tomorrow and has attracted 16 under-13 teams from around the Isere region and further afield. In fact, three of the teams have travelled by bus all they way from Bulgaria - 2000km away!

We first heard about the tournament when AS Gresivaudan’s Thierry Pineau gave us a call after reading about Tri4Joe in the local Isere Magazine. His football club organized a similar event last year with huge success and raised well over 3000 Euros for ELA. Impressive, but perhaps more importantly, due to the nature of the event, they raised awareness of leukodystrophy throughout the region. In fact they received two full pages of coverage in the regional Dauphine Libere newspaper (personally I’m a big fan of this newspaper because it sponsors one of my favorite cycling races - the Criterium Dauphine).

Thierry is very keen to grow the tournament over the coming years and is particularly keen to attract teams from all over Europe. To that end, if you are reading this and know of any under-13 teams that may be interested in visiting a beautiful part of France to play in a football tournament in 2010 then please drop me an email (matthew dot swift at gmail dot com) or leave a comment here on the blog.

Thierry and, I imagine, the rest of his fellow club members are clearly very passionate about the event and its cause and have done a superb job organizing it. It never ceases to amaze me how many selfless and fundamentally good people there are out there. It’s days like this that I feel really humbled and it makes me realize how selfish and self-centered I was in my previous life before Joseph.

I’ll report back after the tournament and let you know how it went.

Thank you Thierry and everyone at AS Gresivaudan.

I have just received Mark’s report of the final stage of the Cape Epic which you can read on the diary.

Thank you to everyone who has supported them. Together you have raised well over two thousand pounds for the Myelin Project UK. We really appreciate it.

In case you haven’t checked the Epic4Joe diary recently, you’ll be pleased to know that our heroes, Mark and Dave, are doing brilliantly - they have survived six days so far and have only got two more to go!

It’s been very tough going in energy sapping temperatures of 40C. I’m exhausted just reading their daily reports.

In addition, they have managed to raise over 2200GBP so far. Awesome!

We’re going away this weekend to the ELA annual convention in Paris. Hopefully I’ll be able to get internet access at the hotel in order to keep you all posted on Mark and Dave’s progress. I apologize in advance if everything goes quiet over the next couple of days - you can always monitor their progress on the Cape Epic website.

Just a very quick post to tell you all that Mark and Dave have completed the Cape Epic prologue in a great time and are in good shape for the rest of the race.

Mark has been sending me updates via email so he must have internet access. The race can’t be that hard if there’s internet access at each stage finish! I had images of them finishing exhausted and then having hunt down their own food while fighting off lions and other savage creatures - not fighting over network cables!

Since Mark’s updates make great reading (so far anyway - may be they’ll get shorter as he gets more tired?!), I am loathed to lose them amongst other blog posts. To that end, I have created a separate page where I have cut and pasted his messages word for word. You can access the page easily from the Epic4Joe Diary menu option at the top of the page. I will update this page every day as I receive Mark’s messages so make sure to come back regularly and take a look.

Tomorrow is the big day for Mark and Dave - they will take part in the first stage of the World’s toughest mountain bike race: The Cape Epic. We wish them the best of luck. They’re going to need it - this really is a challenge to end all challenges.

For those of you not familiar with this race, there is full coverage of the event on Cycling News. I learned an interesting bit of trivia there: the Cape Epic is categorized as a “Hors Categorie” event by the UCI (cycling’s World governing body). It is the only mountain bike event in the World to have this status which is the same status as the Tour de France! So, if you haven’t done so yet, go and sponsor them - they deserve it.

Come back to the blog over the next few days to see how they are getting on. Mark has promised to send me a status report each day if he a) has network coverage and b) is physically capable of typing an SMS!

Well after all the doom and gloom in my last post I have some good news! In fact, pretty much the day after the “doom and gloom post” Joseph seemed to start recovering much quicker. Maybe everyone reading the post sent good vibes? Who knows? I’m not the superstitious type, but it did seem a bit odd I have to say (and thank you if you did send good vibes - can you let me know next time and I’ll pick some lottery numbers as well).

Joseph’s tummy wound has closed up loads and now only leaks a small amount which is much more managable: the acid dries up before it does any harm. Our weekend break in the Ardeche went well and our good luck continued (long may it continue!) - the weather was superb (24C) and the fresh air, change of scenery, sunshine, and great company (thanks Guy and Helyn) was a great tonic for all of us.

Joseph loved his break - he got to meet lots of animals. The place we stayed in had chickens and sheep and some very imaginative children who claimed that there were dinosaur and monster (as if dinosaurs weren’t scary enough) fossils everywhere. He also got to sit next to Bob the Builder’s tractor - well that’s what Joseph thought at least. He was delighted.

Since the weekend break, Joseph’s started back at physio and we’ve felt confident enough to try him out in his trotter again. The really good news is that, despite almost six weeks of very little physical activity he does not seem to have regressed. In fact, in some ways I think that he is stronger than before.

Yesterday we had our final checkup at the hospital where the good news continued: the doctor was pleased with Joseph’s progress and gave us the all clear. We only need to go back every six months or so to change his tube. The hospital visit was not without trauma as per usual. Before we could see the doctor, Joseph had to have an x-ray showing his swallowing and stomach as it processed liquid. Joseph had to be kept still for this so they strapped him to a wooden board - and when I say “strapped” I really mean it! He looked like an Egyption Mummy poor thing.

Nevertheless, Joseph thought that it was great fun! He particularly liked the bit where they spun him upside down in order to get different views. The only traumatic bit was when they inserted the nasal tube to put the liquid in - it’s everyone’s nightmare: trapped and unable to move while someone sticks something up your nose. Yuck. I’m not surprised Joseph is still waking up at night screaming. Hopefully this should improve over the next few days.

For several weeks I’ve been hoping to write a positive comment on Tri4Joe about Joseph’s progress. Something along the lines of “he’s fully recovered, and back to his old self again”.

The truth is, unfortunately, that he’s is only recovering very slowly. In fact, there are times when we look at his tummy with its scars and tube sticking out and wonder what we’ve done to our beautiful little boy.

It’s now well over a month since his operation and we’ve had several emergency trips back to hospital (three in one week!) in order to fix leakages and the resulting skin damage caused by stomach acid burns. We have a nurse who comes to our house every day to dress his wound which takes some of the pressure off of us.

Every night Joseph wakes up screaming at some point - he was howling from 1am to 6am the other night, although I think that quite a bit of this “performance” was more cinema than reality TV.

On the plus side, Joseph’s face is much better now without his nasal tube and his breathing is better since his airways are not irritated. He also suffers a lot less from trapped wind.

It’s been an especially difficult month for Colette who has been more or less trapped at home and unable to have much of a life (at least I can get distracted by work). We’ve had to stop all of Joseph’s routine (physio, etc) because he is too fragile. In addition, he has not been able to do anything physical at home so he has regressed a lot physically - I think it’ll be a long time before we see him “walking” in his trotter again. I think that part of the reason why Joseph is awake so much at night is a result of his lack of exercise.

We have had some fantastic support recently. Our friend Mary-Anne flew over from the UK to spend a long weekend with us (as if she didn’t have enough on her plate with triplets to look after!). We also had Colette’s Aunty Joan here with us last week over from Ireland who is, as always, a huge moral support and thoroughly spoils Joseph and Colette.

We’re off to the Ardeche this weekend with our friends Guy and Helyn. We can’t wait for a well deserved few days break away from home.

I’ll try and be a bit better at updating our blog over the next few weeks. We’ll have plenty to talk about: Joseph’s continued recovery, Mark and Dave’s progress at the Cape Epic, and last but not least, a weekend with the ELA at the end of the month which, we recently found out, Professor Yanick Crow is going to attend!

I thought I’d just quickly write a quick post to say that Joseph’s operation did go ahead today and was successful. He is currently recovering in intensive care. The doctors are very pleased with his recovery so far - he even managed a cheeky smile when he woke up!

He’ll remain in intensive care for another 24 hours before going up to the main pediatric ward for a further 6 days or so until he can feed again.

Both mummy and daddy are much happier now having left Joseph calm and comfortable at hospital. I think we’ve aged another 10 years today.

Thank you everyone for all your very kind messages (both here and via SMS) of support. They mean a lot to us and Joseph.

I don’t know where to start.

We’re all excited having just spent well over an hour on the phone with Professor Yanick Crow. Based in the UK, Prof Crow is the person who, a couple of years ago, discovered the four genes responsible for Aicardi Goutieres Syndrome (AGS). He has in the last 10 years devoted his career to researching this disease.

He now suspects that there may be two additional genes capable of causing AGS. In addition he has been researching the pathology of the disease i.e. understanding how the disease “works”. It sounds like he has been making huge progress and one day there could be treatments (although we’re under no illusions that these may come too late for Joseph).

I must admit to being a bit starstruck when he first rang and I found myself fumbling for questions and things to say so, if you’re reading Prof Crow, I apologize if I rambled on a bit!

So for those of you who are interested here’s the key points that I can remember:

Disclaimer: I feel nervous that I may have got some of the facts wrong as there was a lot of information to digest, so take everything that follows with a pinch of salt.

• AGS is not as rare as reported - it is simply under diagnosed: he knows of at least 250 cases world-wide and there are new cases being discovered all the time. Why is it under diagnosed? Firstly, the genes have only recently been discovered - only a couple of years worth of children have been diagnosed. Secondly, many cases are misdiagnosed as being caused by viral infections in the mother during pregnancy (e.g. rubella, toxoplasmosis). Finally, there are very few places where AGS is tested - in particular, there is no genetic testing in the US.
• There is a lot in common between AGS and the auto-immune illness Lupus (I think this is the right form). This has interesting implications for research since it means that resources, funding, and knowledge can be shared and faster progress achieved.
• For the milder forms of AGS, the latest theory is that the child’s brain and nervous system is damaged early on in their life when the child is most irritable and levels of interferon-alpha are raised. This damage is permanent but remains stable afterwards, so the child continues to grow.
• The current hope for a treatment is to target the immune system using drugs so that it does not attack the rest of the body. This is difficult because you can’t simply switch off the immune system since the child will then be incapable of fending off any infections. The treatment has to switch off only a very small part of the immune system with no critical side-effects.
• Funding for research into AGS is hard to come by. Progress has improved since the links with Lupus were found (Lupus receives much more funding as it is more common and well-known). However, more funding is required.
• Prof Crow works and liaises on a regular basis with a long list of  medical and research experts, from neurologists to immunologists, throughout the World in an effort to understand as much as possible about AGS and to find a treatment and ultimately, a cure.

Prof Crow came across as a really nice gentle person and thoroughly devoted to AGS research. We are indebted to him for spending well over an hour talking to us. Hopefully, later this year we’ll get a chance to travel to the UK and visit him in person (he is based in Manchester now).