Thank you both so much for all the hard work and effort you’ve put into training, running and gathering so much sponsorship money.

The attached pic is Paul in action at the marathon and also a pic of Dee at her recent event.

We were a little apprehensive at first, which I think is natural for newcomers since we are still adapting to the illness; so to be exposed to many other families in similar positions to ourselves was guaranteed to be a powerful experience.

Over one hundred families were present, around 500-600 people all in all. The ELA had organized various events including two meals together, various presentations, coffee mornings, swimming (which is a great activity for disabled people), and many opportunities to talk and share experiences with other families.

The first thing that struck us was the overwhelming feeling of courage and solidarity amongst everyone. From friendly parents, to children playing together despite their disabilities (or lack of, for many of them were perfectly healthy brothers and sisters), to the ELA staff themselves who, like any charity workers we have met, are like modern day saints: completely selfless and always willing to listen and help.

This hugely positive environment almost hid the sad undercurrent of leukodystrophy and the many paths it can take on the way to its single final outcome. Joseph was one of the youngest sufferers there which is not surprising as this is a symptom of his particular type of the illness - Aicardi-Goutieres Syndrome (AGS). For the more common forms of leukodystrophy (e.g. ALD or MLD), many families don’t discover that they are affected until their child reaches between 4 and 12 years old: by then they may already have other younger children. This is one of the particularly cruel sides to this illness and there were many families there with more than one affected child.

Not only can children be affected by the illness - there are adult onset forms as well. In some cases a young adult of between 20 to 40 years old seems to be fully healthy, but they have discovered that they are affected (usually as a result of a close relative being diagnosed) and the symptoms just haven’t manifested yet. They know that at some point, usually before their 40th birthday, they will start to deteriorate. It’s a modern day Sword of Damocles. Horrible. Horrible. Horrible.

The first day we had a presentation from ELA giving a quick summary of the medical research, fundraising activities, and awareness campaigns. It was very interesting from what we could understand as it was all in French and our French is still far from perfect!. Of particular interest to us was the presentation of the new look ELA website, which is going to be made much more interactive using blogs and discussion forums. It will also be translated into many languages including English! In addition, and partly as a result of the success of Tri4Joe, the ELA have also registered with AiderDonner.com, which is the French equivalent of JustGiving.com.

This is great news as it means that any of you who are based in France can organize your own fundraising event for ELA. It can be anything: a walk, a coffee and cake morning, a mini-marathon. You don’t have to do something foolish like an Ironman!

Kudos to Estelle at ELA for putting all these changes in place and for all your support over the past few months.

That day we also got to meet two of the other five French families affected by Aicardi-Goutieres Syndrome: Mikel, Estelle, and their son Tristan (two and a half years old) and Lionel, Valerie, and their son Marius (3 years old). They were lovely people and it meant a huge amount to meet two other families who are in the same situation as us. Both Marius and Tristan are gorgeous little boys who, like Joseph, talk with their facial expressions: you have never seen 3 such lovely smiles!

The following night we all went out to dinner together. It was interesting and surprising to see the similarities between the children and the differences as well. For example, Joseph has always been very sensitive to other children crying: as soon as he hears another child so much as whimper, he shows a big bottom lip and starts crying himself! Much to our amazement, both Tristan and Marius share the same behaviorial trait as well! This meant that we had to deal with our own special version of the domino effect.

One big benefit to meeting other families with the same illness, was that we could share our experiences and knowledge. With an illness as rare as AGS (6 cases in France, about 50 known cases Worldwide), it is us parents who are the experts. One interesting thing that we discovered was that both Marius and Tristan have been taking some kind of neurological medication in order to relax their muscles which were apparently permanently in spasm. Joseph’s never had this sort of problem. Instead, his most acute problems have mostly been with his digestive system. What was clear was that Joseph was much more active (in fact, I think he was showing off a bit). We all talked about this a bit and we were wondering whether it could be due to the differences in medication: it seems logical that a medication that relaxes muscular tension is also going to have a globally suppressant side-effect.

For the final day, the ELA had reserved access to the fantastic swimming complex at Center Parcs. The idea was to give the families a chance to let their child experience the gravity free world of water in a calm environment free from bomb diving children (and parents). Joseph wasn’t too keen on the pool - I think he found it too cold. He’s definitely a man of leisure as he much preferred the jacuzzi!

All in all, it was a fantastic weekend. Very poignant at times, but generally a very positive and constructive experience. I think we’ll definitely be going back next year.

Since the weekend at Center Parcs, Joseph has continued the steady developmental improvements that we have seen in the last few months. He has become much more energetic and playful and, with it, also very cheeky! His latest games are:

• Refusing all food unless it’s chocolate flavored,
• Only eating other foods if he is allowed to hold the spoon himself,
• Once he’s finished eating he shouts at his dad and sticks his chest out. This means that he wants to sit on daddy’s lap and play at the table and do his best to throw everything on the floor!

Not many parents actively encourage their child to make a mess and throw everything on the floor, but we are two of them. There’s nothing that makes us happier than to see our floor covered in mess and toys - just like any normal family house.

Long may it continue.

We’ve just received the attached photos which moved me to tears.

Our dear friends from our former triathlon club in the UK (Whiteoak Tri) have gone to incredible lengths over the past few months to raise money and awareness for the Myelin Project UK via Run4Joe.  They completed the Beachy Head Cross Country Marathon on Saturday 25 October - a very tough and hilly 26 mile course in the South Downs in East Sussex.  Together they have raised more than 3,000 GBP and more is coming in!

Thank you so much and a super well done to Alex Tyrell, Jane Blackmore, Kevin Perkins, Paul Atkinson and Helyn Hiscock for all your efforts and for slogging your hearts out over the South Downs for Run4Joe.

A big thank you too to all their supporters (Heather and the girls; Katherine and Charlotte, Steve and Joseph, Ali, Guy and everyone else involved - sorry to hear Steve that you were injured and unable to run).  We are deeply touched by your support and all the heart and effort put into the build up and the event. We also love the t-shirts!

Joseph is now 2 years young and is still not rolling, sitting up, standing, talking, or able to pass objects from one hand to the other or bring things to his mouth, like a spoon.   In general terms, he is still very floppy in body tone and continues to have very little control of any muscle in his body. Despite having not yet (I say ‘yet’ because I want to keep hoping) reached any of the usual infant/toddler milestones, he has a very strong little character.  He uses many and varied facial expressions to compensate for what he is unable to do with his body. He is interested in trying to reach and hold objects that are put in front of him and he can also hold and strike a xylophone with a little wooden mallet. He squeals and tries to copy intonation and continues to use clicking noises to get our attention when he wants something.

He smiles and giggles a lot which keeps our spirits up.  My sister recently reminded me of how much progress Joseph has made since I told her about 12 months ago that I would walk the walls with excitement if I could see Joseph smile and hear him laugh.  Joseph’s milestones may not be big ones but we’re happy to see any kind of progress.

Following on from two short holidays visiting family and friends in Ireland and the UK in September, we’re now back into our daily routine and up to speed again with Joseph’s various weekly sessions to help stabilize his condition.  He had an orthopedic check-up yesterday and it was agreed that he will have some new equipment to support his body and get him into a vertical position.  Matt and I were really hoping for this approval as we feel Joseph is getting frustrated with his current options which are either  1) sitting in his corset seat or 2) lying down on his back.  We do our best to vary this for him by regularly moving and changing his position (putting him on his side or tummy for instance) but it’s not ideal.  Getting him into a vertical position will help his digestion, his sense of balance, it will help him interact more with his surroundings and it will be great for us to see him upright!

We have a meeting with a surgeon and anesthetist on 27 October to discuss removing Joseph’s nasal gastric feeding tube and replacing it with a tube that goes directly into his stomach.  Tube feeding Joseph is a long term plan due to his feeding difficulties (ie: chewing, swallowing and his swallow/breath co-ordination). We will find out what is involved, when it will go ahead and how long he will be expected to stay in hospital etc.  Matt and I are looking forward to getting the nasal tube removed so that Joseph can have his face back but we’re anxious about the effects of a general anesthetic and how quickly he will bounce back from surgery.

The eight Irish women that I wrote about in our last post have done a truly magnificent job by completing the Evening Echo Ladies Cork City mini marathon and raising 1,500 euros for the European Leukodystrophy Association.

Thank you so much to Dee, Ger, Sharon, Maria, Deirdre, Kathy, Sinead, and Aideen, all of whom finished the 4 mile run in very respectable times.  Thanks too to a group of young people from Mayfield who designed and painted a beautiful banner for the day.  We know how much work and effort everyone has put in to raise so much money and to also raise awareness about Leukodystrophy.

Thanks also to the wonderful husbands, partners, cousins and friends who came out on the day to cheer and shout in support of the girls.  Although, my three year old nephew, Caolan, is still confused as to why his Mammy ran past and didn’t stop to say hello!

The Irish Run4Joe spirit of awareness building and fundraising will continue over the coming weeks thanks to Ciaran McNally and Paul Hickey who will run the Dublin City Marathon on 27th October 2008.  Thank you both so much - more info on all of this to come.

A big thank you to each one of you: Deirdre Dennigan (Mayo & Midleton), Sharon Maher (Fermoy), Ger McNally (Mayo), Sinead Pyne (Midleton), Aideen Donnellan (Midleton), Deirdre O’Dwyer (Fermoy), Kathy Brown (Mayo) and Maria Dickenson (Liverpool & Dublin).  Your efforts are very much appreciated.  We look forward to getting a full update with some pics after the event.  The best of luck to each of you.

Alex Tyrrell, a close friend of ours who lives in the UK and who is a member of our old triathlon club, is going to compete in the Beachy Head Marathon which takes place on the 25th October 2008. This running race is probably the toughest marathon in the UK. It is entirely off-road and very hilly. In addition, if the weather is bad, it can become grueling to say the least because the running trails quickly become very muddy! Alex is not doing this event alone, he has also managed to encourage several friends (victims?) to take part as well.

Together they aim to complete this event and, in doing so, raise money for The Myelin Project UK via their fundraising page. I spoke to Alex a few days ago and he was looking fit and confident having been training hard most days.

We will track their progress here on the Tri4Joe blog. Meanwhile please go and look at their fundraising page on JustGiving.com and sponsor them (or use the donate button on the little Run4Joe panel above).

Alternatively, you can use Run4Joe as a template for creating your own fundraising event - remember to tell us about it though! ]]> http://tri4joe.com/2008/09/24/run4joe/feed/ http://tri4joe.com/2008/09/24/the-myelin-project-uk-is-now-on-justgivingcom/ http://tri4joe.com/2008/09/24/the-myelin-project-uk-is-now-on-justgivingcom/#comments Wed, 24 Sep 2008 21:14:33 +0000 colette http://tri4joe.com/?p=119 I am very pleased to announce that The Myelin Project UK has recently registered with JustGiving.com. This is really exciting because it means that it is much easier for people based in the UK - perhaps you - to organize their own fundraising activities on behalf of The Myelin Project UK.

So if you are thinking of doing a fundraising activity or know someone who is, please consider The Myelin Project UK: all donations go directly to research into finding cures for the Leukodystrophies and Multiple Sclerosis.

It really is easy to create your own JustGiving.com fundraising page by going to the The Myelin Project UK page and spending 5 minutes of your time to set up an account and your page. Once you’ve done that, please drop us an email at and we will post a blog about it.

Last week Colette and Joseph spent the week in Ireland with her family.  When they came back Colette had a fistful of cheques representing the last of the money that we have raised as a result of Tri4Joe.  This means that we are now, finally, able to post a big grand total - and here it is:

• Myelin Project UK: around 8500GBP excluding Gift Aid which is about 28%.  This will equate to over 10,000GBP or 12,500 Euros in metric money.  All the money has been sent to the Myelin Project and we’re waiting to get the final exact amount that they’ve received (the uncertainty is because I know that they’ve received donations made directly to them).
• European Leukodystrophy Association (ELA): just under 17,500 Euros!  But there’s still more to come: the company that I work for, Sun Microsystems, has a “matching” scheme whereby they will match all donations that we’ve received from fellow employees upto 1000USD or equivalent.  That equates to another 650 Euros once the paperwork has been completed.

I’m sure I remember saying this before, but if anyone had told me that we were going to raise over

10,000 Euros way back at the start of 2008 I’d have laughed at them.  We’re completely amazed at everyone’s kindness and generosity.  In fact, I personally feel quite ashamed that I didn’t have much faith in human nature!  Well I’m no longer such a cynic - thank you so much everybody!

The sum above does not just represent the results of a single fund raising effort.  In fact, inspired by Tri4Joe, some people have already organized their own events in aid of Tri4Joe, for which we want to say a special thank you:

• Dartford Roadrunners Running Club: they organized a barbeque and raffle after their club championships and donated all the money raised to Tri4Joe.
• Fermoy Mothers Group: who hosted a coffee afternoon and raffle and donated all the proceeds to Tri4Joe.  Also, as a result of the publicity this event received, we ended up getting coverage in all of the major Irish national papers!  So this had a completely unexpected bonus of spreading awareness of Leukodystrophy across Ireland.
• Ride4Joe: very recently members of our old triathlon club organized a charity training bike ride which was covered in a recent post.
• Garden4Joe: ok I made that name up!  Recently, a former neighbour of mine in London, Sheila Kennedy, who is now living in Ireland opened up her garden for people from her gardening club to come and visit.  All the money raised was donated to Tri4Joe.
• Cuchulainn Cycling Club: organized their very own Irish version of Ride4Joe and donated all the proceeds to Tri4Joe.

It would be lovely if we could thank everybody by name, especially those who have gone the extra mile generating awareness and collecting donations, you know who you are and we thank you all.

I mentioned in a previous post that there are going to be a number of new fund raising efforts coming up in the next year.  These include: a couple of friends of ours who are going to do the Cape Epic mountain bike race in South Africa (they’ve called their team Epic4Joe!); some friends of ours in the UK are organizing an event, which they are going to call Run4Joe, where they will run the Beachy Head Marathon on the south coast of England; some of Colette’s relatives and friends are going to do the Cork Mini-Marathon at the end of September.  We’ll start blogging about these events very soon.

Want to organize something yourself?

If you’re interested in raising money for the battle to find a cure for Leukodystrophy, then feel free to contact us and let us know what you’re going to do.  We can put a blog about it here on Tri4Joe.

You’ll also be very interested to know that very soon the Myelin Project UK will be a charity which is registered on JustGiving.com.  So, if you’re UK based, you will be able to easily create your own fund raising page - do tell us though and we can put a link to it on Tri4Joe!  I’ll let you all know when this is up and running.