Joseph on TV for ELA

Joseph celebrated his third birthday on Monday with us and his grand parents who had just arrived from Ireland. This was his first birthday where he understood the thrill of opening cards and presents (along with his parents!), so thank you to everyone that sent something.

The morning got off to a great start and a very positive experience: we were invited to represent the ELA families at an ELA dictation exercise at Joliot-Curie primary school in Echirolles (near Grenoble) with quadruple Beijing para-olympian gold medalist David Smetanine. Present also was a journalist and cameraman from France 3 and the event was later broadcast on the evening regional news (video)!

We were a bit nervous at first, not knowing how Joseph would react to all the over-excited 10 year-old children (we’ve noticed that he is very sensitive to high pitch squeals), and also how we would react as these events can be quite powerful emotionally. We all passed with flying colors – even when all the children made a special effort to sing “Happy Birthday” in English which was very moving.

The school children then had to compete against a select panel of parents to perform a “dictation” where they had to listen to David read out a passage about someone who is told that they have an incurable disease (e.g. leukodystrophy). They then find out that the illness is not incurable for any hard medical reasons, but due to economic reasons: the illness is too rare to be worth investing in research, and there is simply too little known about the illness for it to be treated or cured. From an objective point of view this viewpoint is understandable, but try explaining that to a sick child or their parents. Before having Joseph I would have always had this objective opinion, but secretly deep down inside I would hope that I would never be in a situation where I would have to test it. Well, call it fate, but we’re in that position, and the objective view on things doesn’t hold up. The subject of the dictation passage has the same experience and decides to do everything to fight the illness by putting on their trainers and running a race to raise money. This is a reference to the ELA’s “Mets Tes Baskets” (put on your trainers) fundraising campaign which all schools in France (and I imagine other countries where ELA has a presence) can participate.

While the dictation was taking place we sat and talked with many of the children. It’s incredible how intuitively sensitive young children are – they asked many questions and talked and held Joseph. Joseph was very relaxed and loved being the center of attention!

From my point of view the morning was something that we will remember for a long time, and I hope that it is something that the children will remember too. Our thanks go to the Joliot-Curie primary school in Echirolles, David Smetanine, and the ELA for organizing this event.

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).

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.

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.

I watched Joseph drift off to sleep tonight and the usual thought ran through my mind – he looks so perfect.  I sometimes don’t want to or can’t believe that Leukodystrophy and the heartache that it brings is part of our everyday lives.

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.

On Monday, Joseph enjoyed playing with a big blue balloon at the psychomotricienne’s, whilst I had a bit of a moan about not coping very well with complete strangers asking me what’s wrong with Joseph.  I don’t want to be rude, but there are days when you just want to do your shopping in peace and not be constantly reminded or have to talk about something that saddens you, least of all to a perfect stranger.  I’m still trying to work out what to say or not say.   One word of advice has been to pretend that I don’t speak French – one advantage of being a foreigner here!

Tuesday was physio where Joseph worked really hard (I know how much effort he’s putting in by how much his head trembles) to reach and pick up small toys put at different distances in front of him.  He got very frustrated when he tried to do the same with his left hand. Joseph’s corset seat was also altered to give him more freedom to move his arms, and at the head piece to improve the support to his head position.

Joseph had his creche summer party on Tuesday evening. He had to say goodbye to some of his new found friends as all the 3 years olds will be starting big school in September.  Joseph started going to the local Creche about 3 months ago and he goes there for 2.5 hours once a week.  This is a great boost for him (and me) as he gets to do some ‘normal’ things and spend some time with other children which he loves.  We are very grateful to the creche for taking him on as one of the staff has to give him one to one attention at all times.  Joseph loves going as he beams a smile whenever I take him in the door. He has lots of friends, especially one little girl called Orphely who is very happy sitting next to him and stroking his hand.

Joseph had his eye exercises appointment yesterday morning.  This session was spent trying to get Joseph to keep looking at whatever object was in his hand.  He tends to put so much effort into reaching for a toy that when he finally gets his hand to it, he either doesn’t know what to do with his hand – the toy will either fall out of his hand immediately – or he won’t realise/forgets that there is something in his hand.  I look at other children in awe when they can just pick something up with ease.

This morning we met a geneticist and a psychologist at our local hospital.  I think I’ll let Matt explain the whole genetics thing in another post as it goes over my head a bit.  All I know is that both Matt and I are carriers of the gene that has caused Joseph to have his form of Leukodystrophy.  There is a one in four chance of it happening again if we tried for another child.  As the gene is known, it looks like there are possibilities for various tests, which is a positive.  Neither of the options are straightforward though, so we have a lot to think about.

This afternoon, Joseph had his check up with the pediatritian – his lungs sound fine (which is a relief as he coughs a lot at night due to saliva going down the wrong way), his head circumference has grown half a centimetre in 7 weeks which is good news too as up until today his head was measuring the same since last June.  He is the same weight (11kg/24lb) and the same height (77.5cm) since the end of May.

Matt took the day off yesterday to do his final big brick session.  He did 3hrs on the bike at a good pace, despite lots of cross winds. 14km into his run he called me on the mobile to say that he was going to call it a day as he hadn’t felt recovered yet from his last big training session at the weekend.  I was glad really as I think he’s done all the hard work and it’s time to get lots of rest over the next couple of weeks so that he’s as fresh as he can be for the start line in Zurich.  He’s done so well (I don’t often praise his training techniques!).  I think he’s ready.  I’ll try and make sure that he looks after himself and puts his feet up a bit over the next week or so (the 2 metre long ‘DIY to do list’ comes out first thing on the 14 July!).