Tri4Joe

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).

Thank you everyone for all your kind comments and well wishes for Joseph. Unfortunately, they were all a bit premature and you’ll have to send them all again on the 3rd of February!

Joseph checked into the hospital (with the help of his parents of course) on Wednesday 21st January and stayed in overnight in order to be ready for an early morning operation on Thursday. Joseph didn’t show any signs of nerves, unlike his parents, and in fact seemed to be thoroughly enjoying himself: especially the occasions when he got to ride in an elevator where he had a mirror to admire himself and a captive audience to entertain and screech at full volume!

Anyway, Thursday morning came and Joey was ready to go down to the operating theatre – he was all dressed up in his gown and had little anaesthetic patches in place ready for various drips to be inserted. Then at the very last minute the surgeon arrived and told us that they were having difficulty finding a room in intensive care for afterwards. 30 minutes later the surgeon came back and told us to go home as he was unable to reserve any rooms. Seemingly there’s been a massive outbreak of gastro bugs and bronchitis in the region and the pediatric intensive care is completely overloaded.

Being English and used to the British health system and its waiting lists, this came as no surprise. However, for any French people we have told, any slight hiccup in their health system seems to be greeted with looks of total despair and moral outrage: their health service is their national treasure.

Since Christmas Joseph has been a bit tired but generally on great form. I think the Christmas holidays took a lot out of him. I don’t think it was the travel so much or the unfamiliar surroundings. In fact, I think it was his adoring fan club which he felt he had to entertain 24×7. He was totally spoiled and loved every second of it!

A big worry with the operation is not so much the risks associated with the operation itself, but instead how much it will set him back. It will be quite a major operation with two goals and lasting around 3 hours. The first goal is to put a tube feed directly into his stomach (replacing his nasal feed tube), and the second is to put a valve in his oesophagus which will prevent acid reflux. He will then spend 48 hours in intensive care and then a further 6 days in the children’s ward on an IV drip until his stomach is recovered enough to be able to accept food again.

If all things go well, he should be home again around the 10th February.

Keep those fingers crossed!

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.

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.

On Monday 27 October 2008, Paul Hickey and Ciaran McNally, ran the Dublin City Marathon (26.2 miles) for ELA via Tri4Joe.  Paul posted an impressively speedy 2 hours 45 minutes time and Ciaran finished in a very respectable time of just over 4 hours.  We are so pleased that Paul and Ciaran have chosen to raise money for the European Leukodystrophy Association.  Paul is a native of my home town in Fermoy, Co. Cork and Ciaran is originally from Castlebar, Co. Mayo.  Thank you both so much.

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!