Tri4Joe

Joseph had a great Christmas and New Year and was utterly spoiled by his grand parents and auntie and uncle. We think this year was the first year that Joey started to understand and get excited with presents. Like most children of his age (perhaps a bit younger) he seemed more interested in the wrapping paper, whereas his daddy (me) was more interested in his presents – especially the remote controlled flashing police car that his aunty and uncle brought him.

We were hoping for a white Christmas but the weather got really warm and wet, so sadly we could not introduce Joey to the Swift family’s passion for sledging. Even more frustrating was that the snow arrived in force the day after everyone left for England. Joey loves the snow (almost as much as daddy) especially leaping up and down in powder snow.

You’ll also see from the photo that we have discovered that Joey (again like his daddy) has an obsession with fire. We literally have to pin him down in order to prevent him from burning himself on candles. He’d stare at them for hours if he could!

Anyway, thank you everyone for your continued good wishes and support. Joseph has continued to make steady progress throughout 2009 and the signs are (fingers crossed) that he’ll continue to make progress in 2010.

Donation page update

We have just closed both our EUR and GBP Paypal accounts and will shortly forward the balances to their respective charities (ELA and Myelin Project UK). I could see very little point in keeping these accounts open since Paypal take a significant percentage (2-3%) commission and also do not automatically handle national charity related tax relief schemes (e.g. Gift Aid in the UK). I have updated the donation page so that the donation buttons now link directly to the ELA and Myelin Project UK donation pages.

If you would like to do your own fund-raising activity on behalf of Tri4Joe then please let me know. The ELA and Myelin Project UK have respectively AiderDonner and JustGiving accounts which can be used to construct your own fund-raising page which we can then link to and blog about on Tri4Joe. Contact us if you need any help.

Apologies for the long unintended silence from us.  The months have whizzed by and we haven’t updated you on Joey’s progress in ages.  Life, thankfully, has been good to us in recent months.  Once Joseph was fully recovered from his gastrostomy operation in February, we decided that we should try and go away together for short breaks whenever we could – we went to Paris in March for the ELA medical research meeting, then Ireland in April for my father’s 70th birthday party and we’ve had a few weekends away to touristy places in France with family and friends (Ardeche, Cap d’Agde, Auvergne).

Joseph has made lots of progress over the past few months; he’s had his first pony ride, his first back seat bike ride and he’s received his first trotter after getting the green light from his orthopaedic doctor – this has opened up a whole new world of exploration and discovery for him.  His level of body tone has improved, he’s holding his head very well and he can now, most of the time, turn spontaneously from side to side when lying down. On the not so positive side, he will need to start wearing glasses again as he has been increasingly twisting his eyes inwards, so we collect his new set of specs next week.

Joseph has had a busy few months with his weekly sessions of psycho-motor, physio, speech therapy and eye exercises and other various consultations with the neurologist, paediatrician and orthopaedic doctor. He has also added an occupational therapy session to his list of weekly exploits – the therapist has started exploring his ability to understand ’cause and effect’ by the use of a ’switch’ or large contact button that activates toys when pressed.  He’s doing very well with this and is now trying to frantically press every item we put in front of him to see if it will come to life!  Adding something like these ‘inclusive technology switches’ to Joseph’s life will be great and may well reduce the amount of times we get screeched at to keep pressing the start button on a toy!

A few friends have recently asked us whether Joseph is talking yet or eating solids or feeding himself.  Globally speaking, nothing has really changed in terms of Joseph doing anything by himself like sitting up, crawling, standing, walking, talking, feeding etc. He still has very little motor control, for example, while he can grab something in front of him now (like my prize rose outside the front door), he will very rarely be able to do anything with the object he has picked up other than drop it again.  He can’t put it into his mouth or pass it from one hand to the other or hand it to someone.  Sometimes there are glimmers of improvement so we will keep stimulating him and hoping.

Joseph’s level of interest in his surroundings has improved and he is increasingly using his eyes and expressions to charm those around him, especially the ladies!  He is growing taller (84cm) and putting on weight (12kg), while both Matt’s and my biceps are getting bigger from lifting him. Despite Joseph’s global physical challenges, his determination and magical character never cease to amaze us and fill us with joy.

Fund-raising for the ELA and the Myelin Project UK continues.  As you know, we’ve had the Epic4Joe mountain bike adventure race in South Africa during March and the ELA football tournament here in Grenoble at the end of May, raising more than 2,600 GBP for the Myelin Project UK and 1,900 euros for the ELA respectively.  At the football tournament Joseph did the ‘fictive kick off’ for the final match and also had a trophy named after him, called: ‘The Joseph Swift Fair Play Cup’.   The transition year students of Mount Mercy College Cork in Ireland, raised 500 euros for the ELA in April with a two night musical called ‘Razzle Dazzle’, led by their Director; Mary Mulcahy and we’ve just heard and are extremely grateful that MMC would like to make this an annual fund-raising event for the ELA.  Joseph and I visited the girls when we were in Ireland and we spoke to the them about leukodystrophy and the ELA. Finally, Maria Dickenson recently ran in the 10km Dublin Women’s Mini Marathon and raised 951 GBP for the Myelin Project UK.  Thanks so much again to everyone for your continuing support.

Here are a few photos to summarise some of what’s been going on over the past few months:

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!

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).

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.

We have received a report from the ELA which provides full details on all medical projects financed thanks to donations received. During 2008, the ELA received 3,963,652 euros and this is being spent on 47 different new and ongoing medical research projects in France, Germany, UK, Holland, Portugal, Greece, Italy, Spain, Belgium, Switzerland and the USA.  Projects include: fundamental research of the leukodystrophies, repair of myelin in the brain, physiopathology, identifying new genes responsible for different leukodystrophies, therapeutic research (testing the efficency of transplanting neural cells or testing the efficiency and tolerance of drugs on the treatment of certain types of leukodystrophies and enzyme replacement treatment).  It is very heartening to see such detail and to know that all your money is being put to very good use.

Ciaran McNally has gathered all his sponsorship money following his superb finish at the Dublin City Marathon on 27 October 2008 and has raised 1,075 euros for the ELA.  Thank you Ciaran for all your hard work on this.

Paul Hickey, who also ran the Dublin City Marathon on 27 October for Tri4Joe, has raised 1,400 euros for the ELA.  This is a combined total of 1,150 from his marathon fund-raising efforts and 250 euros raised by his girlfriend Deirdre O’Dwyer when she ran in the Cork Ladies mini marathon on 28 September 2008.

Thank you so much for all the hard work, training, running, fundraising and support you have given to us.