Tri4Joe
Fighting against leukodystrophy

Before we head away to spend Christmas and the New Year with family in the UK and Ireland, I just wanted to write an update on Joseph as we haven’t done one in ages and also to wish you all a very happy Christmas and New Year.

Joseph is in better form after a fairly difficult two weeks, first he had a tummy bug and this was followed by a chest infection. He has slept again these past two nights which is great and his morning physio sessions for his chest have just finished, so hopefully, we’re back on track for a positive and healthy Christmas!  In general, he’s very chirpy, cheeky and has loads of new facial expressions!  We’re learning Makaton sign language in his speech therapy sessions so we’re trying to integrate that into our everyday lives.  We’ve got to the point of getting Joseph to make a ‘click’ with his tongue when he is saying ‘yes, I want…’  We’re also trying to give him choices so that he picks a particular toy with this same ‘click’, along with eye contact.

In the past couple of weeks, we’ve received Joseph’s new medical buggy a.k.a ‘The Hummer’ so we’re hoping to take this with us for the holidays as it can be reclined with his corset seat in it.  This makes things more comfortable for Joey when he falls asleep as his head will no longer fall forward.

He has also got a new piece of equipment this week which Matt calls ‘Robo-Cop Joe’.  It’s a vertical apparatus which allows Joseph to be in a standing position.  It’s a plaster cast of his body, made out of firm foam and plastic (which makes me wonder why it weighs a ton?!). Thankfully, Joey is incredibly patient with me as I almost catapulted him out of it the other day when I was learning how to change the position of it.  Rather than scream at me for giving him whiplash, he merely giggled and did one of his high pitched ‘isn’t this fun’ squeaks.  This vertical piece of equipment should help Joseph’s hips to develop better and its arrival is quite well timed as a recent control x-ray showed that his hips are not developing like they should due to lack of movement/motricity and lack of weight bearing.

Joseph will have surgery for his tummy feed-tube on 22 January 2009.  He will have one general anesthetic during which he will have an incision made for his tube and also a valve will be put into his esophagus to help stop reflux.  With this valve, we can hopefully take him off his anti-reflux medication.  All things going well, he will be in hospital for 8 days and then home with a plaster and tube free face along with a new tube coming out of his tummy.  Night feeds should continue as normal once his wounds have healed.

That’s about it for now, I better go and sort Joey out as he’s just woken after his nap. Hope you all have a wonderful Christmas and here’s to a happy and healthy 2009.  Thank you for all your support during 2008.

Last weekend we went to Center Parcs in Sologne (near Orleans, a little south of Paris). The weekend, which was organized by ELA, was intended to bring together many of the families in France who are affected by leukodystrophy.

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.