Tri4Joe

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!).

I did the second of my two big “brick” sessions on Saturday (remember a “brick” is a training session consisting of biking and then running).  I decided to take the advice of my friend Gary and switch the 106/28 and 106/35 sessions.  So Saturday I did the 106km bike followed by 35km run.  One word summarizes how I felt at the end of this:

Ouch!

In fact, it was ouch ouch after about 14km of running.  Never mind, I did the 35km and that only leaves 7km more to do on the big day which I’ll do on adrenaline alone (ignoring the extra 75km of hilly bike and 3.8km of swimming!).  I’m convinced, barring misfortunate, that I’ll get round now.  It won’t be pretty, but I’ll damn well get round! Here’s the training stats for my sporty friends interested in such matters:

• Bike: average speed 37.5kph at a comfortable HR of 145bpm (my threshold is about 165bpm)

• Run: the first 14km were good at 3:06 marathon pace (about 150bpm), but then I stopped to refill my bottles and my legs seized up!  I struggled for the next 7km, finishing the half-marathon in 1:35.  After that it was a case of “grin and bare it” as my legs were very painful and I could hardly run. The final 14km were at about 4:20 marathon pace.

I felt mentally quite fresh at the end and had plenty of energy in reserve.  My seized up legs were the weakest link this time.  If I’m recovered well enough in time, I’ll do a shorter session on Wednesday and then a much shorter one on Saturday and that will be about it until race day.

What’s wrong with Joseph?

We’re still finding it hard at times to confront reality. It’s very easy to cocoon ourselves and avoid the outside world.  However, sooner or later we have to and this weekend was one of those times.  After the training session on Saturday we went to a friend’s house for a BBQ.  I was quite tired (!) after having trained for most of the day and Colette was probably mentally fatigued after being stuck indoors on her own all day caring for Joseph.

Many of our best friends were at the BBQ which was great (as was the food!), but there were also many strangers who didn’t know us and who were not aware of Joseph’s illness.  In addition, there were also many young children rampaging around the place.  You can imagine the situation:

• Joseph’s parents trying to maintain conversation with friends but secretly observing all the other children - some Joseph’s age - running around, talking, and playing.  Soon we tune out of the conversation and become distracted by our thoughts: why Joseph?  Why us?  How can this happen to a beautiful innocent child?  Why can’t we do anything about it?  Why can no one help?  Logically we know the answers to these questions, but we still can’t avoid the circular thoughts during moments of weakness…
• A complete stranger approaches, noticing the tube going into Joseph’s nose and taped to his cheek.  Curiosity has got the better of him and he asks quite bluntly, “what’s the problem with your baby? Why is there a tube up his nose?”

Suddenly you feel like you’ve been struck at your weakest moment and all your emotions come welling up from inside like an unstoppable wave.  It wasn’t their fault. It was just bad timing, and they weren’t to know that there is something gravely wrong with Joseph.  And, anyway, they probably had the best intentions and wanted to share the problem.  Repeat this ten times a day, in the supermarket, the pharmacy, swimming pool, or just out for a walk even, and suddenly a cocoon is a safe place to be!

This sort of situation is never going to go away, we just have to learn to deal with it, just as Joseph has (he had a great time and made lots of new friends!).

Later this week we’re going to meet the geneticist for a lesson in biology and statistics I think…

We’re so delighted to read tonight that Shane Stokes of IrishCycling.com has very kindly posted a note on Matt’s Ironman.  On the UK side of things, Lynda Carthy from the Myelin Project UK has also included a write up on their website in the fundraising section.

We are very touched and humbled by the support we’re getting, from all corners of the world, from Saudi Arabia to Australia, Canada, USA, Singapore and home to Ireland, the UK and here in France.  Thanks to everyone’s efforts so far, we have raised 1,900 euros for the ELA and 1,750 pounds sterling for the Myelin Project UK.  I know there is lots of family fundraising activity going on in my home town in Fermoy, County Cork in Ireland, and all around the country with cousins and friends doing a great job of emptying people’s pockets (and their own)! The same fun is going on with Matt’s family who live in Hampshire, Bristol and London.

On a slightly different note, I discovered yesterday that Oenone Wood, a professional female road cyclist is the Australian Ambassador for the Leukodystrophy Association in Australia.  I have huge respect and admiration for Oenone as a cyclist and even more so now that I’ve discovered this.  I’ll have to get my thinking cap on as to how I can maybe get fit again and get women’s cycling on board for a Leukodystrophy fundraising project in 2009!  Any ideas welcome.

Joseph has been busy as usual with his various sessions.  He had psychomotricienne yesterday and then, physio, speech therapy and an eye specialist working with him today.  He is also getting some changes made to his corset seat to give him a bit more comfort as he grows.

For his eyes we need to focus on stimulating his left side in particular as he tends to turn his head instead of moving his left eye. His speech therapist is pleased with Joseph’s pre-verbal antics of trying to imitate voice tone and expressions.  He has also started putting his fingers into his mouth which is great news.  Joseph has no words or recognisable sounds but he can do lots of aarrreeeggghh type sounds and shouts aaahhh to get himself attention.  He also has the most endearing quivering lower lip if he’s not being understood.  We’re getting fairly good at interpreting his different cries, much like you do when you have a newborn baby but ultimately, it’s guesswork and we work through the checklist until finally the tears stop.  It can be sometimes frustrating because, as Joseph isn’t mobile in any way and cannot use his hands or arms, the only way he can get himself understood is through his cries.

Every now and again we can guess what’s going on with him by reading certain looks or expressions in his face.  No marks for guessing what his favourite toys are then?

I’ll leave it at that and sign off now.  Thanks again to you all.

Colette xxx

Finally the sun is shining in the Alpes.  Whilst northern Europe (according to my parents) has been basking in summer for the past month or so, we’ve been having to deal with constant rain and cold.

So what better way to celebrate the sun and heat and go and do the “La Mure” cyclosportif just south of Grenoble?  This was the first time that I’ve done this sportif and my friend Ed Nichol (a.k.a. sporting legend) told me that it would suit me as it didn’t have too many long steep climbs.  The problem was that most of the steep climbs were right at the start, so it wasn’t long before I was riding solo!  Then, after 110km, I got a puncture which was bad news since I’d already had two on the way to the start of the event and this was my last spare inner tube (i.e. SOS phone home if the last one goes pop!).  So, realizing that the problem was due to a fault with the wheel itself rather than the usual bits of glass in the tyre, I pumped the tyre up to a very low pressure and rode very slowly and very carefully to the finish.  The good thing about this was that I had plenty of opportunity to look at the amazing scenery in the Trieves region around La Mure.  It is truely stunning and I have to say that this sportif is now my new favorite - even more than the Challenge Dauphine that I did a few weeks back.  At the end of the day I had ridden 205km and I felt every one of them in every bone in my body! (thanks to Guy and Helyn for waiting for me at the end).

The ups and downs of Leukodystrophy

After the cyclosportif Colette and Joseph met me in the car and we all went to a midsummer’s barbeque.  But this was a BBQ like no other - a spit roasted pig!  It was delicious, but the star of the show was the spit roast itself - a Wallace and Grommit style DIY job.  Pure genius.

While we were there Joseph did something that he’d never done before: he repeatedly tried to put his dummy in his mouth.  This was a big step for Joseph since, despite how much we’ve tried in the past, he’s never really understood what hands are for.  Or has he?  Come to think of it, about a year ago over a period of a few weeks, he did try to feed himself with a spoon.  We were excited then, but then just as with many of Joseph’s developmental milestones, the skill simply disappeared as quickly as it had come.

We’ve noticed that this pattern is something that is symptomatic of Leukodystrophy: as fast as the child’s brain is developing, it is also being destroyed.  As soon as a skill is acquired, it is lost again a few weeks later.  When people ask us “is he developing?”, we are unable to give a simple straight answer - in some ways he is, and in some ways he’s not, and in other ways he’s got worse.

It was only a couple of weeks ago that Joseph was much more “tonic”: he was almost able to sit up unassisted; he would try and stand up when held; he even acquired the classic knee reflex (where the knee jolts when tapped with a hard object just below the knee cap) - Joseph’s never had this reflex because the nerve signal was lost somewhere in the round-trip between his knee and his brain.  I was very excited by this and proudly told the neurologist when we saw her soon afterwards.  She gave me a sad “oh dear we have a proud over-optimistic father here” look and repeated the test and, of course, nothing happened: the reflex had gone.

We’re getting used to this now and never really get too excited when Joseph does new things (actually that’s a lie - we do get excited but we know we shouldn’t!).  Our coping strategy is to just live in the present and accept Joseph as he is today.  We don’t know what the future will bring, and we don’t think anyone else does either.

Whilst feeding Joseph at lunch time I noticed an appeal on telly that made my heart leap.  It started off with Zinedine Zidane kicking a football against a steel gate and every time the ball hit the gate, the ball fell to the ground.  The voice-over said (in my best French/English translation): ‘Leukodystrophy paralyses many children and finding a cure is difficult’.  For the last kick of the ball, Zidane kicks the ball so hard it bursts through the steel gate, the appeal ended with the voice-over saying, ‘but Leukodystrophy is not unbeatable, help us find a cure’.

This was an appeal by ELA (European Leukodystrophy Association) one of the charities for which we are raising money.  ELA is huge here in France and they have Zidane as patron.  Once a year there is a big fundraising effort, something like ‘Comic Relief’ in the UK and loads of celebrities take part raising money for the charity.  I was quite moved to be honest, there I was feeding Joseph and an appeal for donations to find a cure for my little man (and many others) is going on.

It’s wonderful to know that the profile for Leukodystrophy is growing and thanks to all of you who have read this site and donated very generously, you too are more aware of what this horrible illness is about.  Knowing that there are combined efforts of raising money for medical research into finding a cure is our only hope.  When you’re told that your child has an incurable progressive degenerative disease you just don’t want to accept that this can be possible, certainly not in this day and age.  Thank you, each and every one of you, for helping us keep some hope.

Joseph is doing well - he has had a fairly heavy week of various sessions (physio, eye specialists, corset seat review/check, psychomotricienne). He was tired today and he enjoyed having a quiet day at home (so did I).  All his therapists are pleased with his current progress - his reactions are better, his interest in his surroundings and presented stimuli is much improved and the muscles in his eyes are working better (they’re not wandering off in different directions as much).  Long may it continue.

One of the problems with his condition is that he can make progress for a few weeks and then have a lapse where he loses the ability to do things. He will keep a bit of that ability but he usually needs to re-learn or start over again. For example, when he was about 5 months old he could lie on his tummy and do mini press ups, putting his hands underneath his chest and pushing himself up.  He can no longer do this.  If we put him on his tummy now, the most he can do is turn his head from side to side (if he has the energy) and his body remains flat to the ground.

The good news for now is that the periodic dips or lapses are currently becoming less frequent and he is consistently in better form for longer spells which is fantastic and makes life for all of us so much more bearable.

Thanks for reading.

Colette

I swear I only wrote “5 weeks to go” yesterday! Where does the time go?

It’s official: not only am I nervous, but the panic attacks have started. I had my first “losing control” dream last night. I get these a lot whenever I’m stressed by something. These dreams often involve my teeth crumbling to pieces and falling out (I have no idea, before you ask). Alternatively, I’ll dream that I’m about to do a cycle race and waiting on the start line and realize that I’ve forgotten my bike, or that my tyres have deflated, or a wheel is missing. Whatever is wrong - I usually wake up with my heart pounding and all knotted up with nervous tension.

So last night’s dream took on a new theme: the Ironman Triathlon. We arrived in Zurich in the middle of the night with only a few hours to spare before the start of the race. I was tired and the race was due to start very soon. I hadn’t even registered or put my kit in the transition zone (you’re supposed to do this the day before).

Now back to reality: this week Joseph has been on superb form. He’s been smiling and squealing all week. Yesterday it was my birthday (34) and we went out for a meal in Albertville. I don’t know what it is about restaurants but Joseph loves telling everyone how happy he is!

On wednesday we all went swimming together in the local pool. Swimming is my least favorite sport of the three. Hamsters and wheels come to mind. It’s just so boring and repetitive, and wet. The Ironman swim distance is 3.8km which equates to 160 lengths! I swim and swim and swim and finally, after what seems an eternity, I reach 10 lengths!

Keeping on the swimming theme, we went to Annecy yesterday so that I could try out the wet suit. In triathlons the swim is usually in open water - the sea, a lake, or a river. This means that competitors have to wear a wetsuit in order to not die of hyperthermia (!). Yesterday was no exception: the Lake at Annecy has not had a chance to be warmed by the sun (it’s been a very cold and wet spring so far), and is full of fresh snow melt. Brrr. This does have one advantage though: ignoring the temperature, it is like swimming in the Caribbean (I’ve never been there but I’ve seen pictures!). The water is crystal clear and blue. If you’re ever down in the French Alpes, I highly recommend going to Annecy; it’s one of our favorite towns.

After the swim I got on my bike and rode 45km around the lake to Albertville for some dinner with Colette and Joseph. The ride was a real “no chainer” - a strong tailwind enabling me to do well over 40kph the whole way with little effort. It’s great to practice the swim-bike transition and I’ve found a potential area for performance improvement: rather than spending hours riding my bike or in the pool, I should try and cut down the time it takes to get out of a wet suit and into my cycle gear. It took me a whopping 30 minutes, during which I amused Colette and Joseph by getting stuck in the wet suit, then hopping about with one leg stuck in it, then slipping over in swan pooh, then cursing the swan pooh, finally finishing off with a nice cycle shoe induced ballet dancing number (swan lake?). Now there’s something to have a “losing control” dream about…

We don’t know where to begin. Thank so much everyone for all the kind comments and words of encouragement, they mean a huge amount to us.

We’ve been bowled over by the number of donations so far. It’s been only a few days since we let friends and family know about this blog and we have already raised about 1000 Euros. Thank you everybody!

So 5 weeks to go before the big day. Wow! I can’t believe how fast it’s going. This weekend I didn’t get any training done due to finally succumbing to the dreaded gastro bug that Colette and Joseph had last week. It was good timing though since the weather here has been cold and miserable and not very motivating anyway. Never mind, all was not lost, since Colette and I spent a romantic evening for two (!) setting up the triathlon bars on my racing bike. I’ll be using these in the triathlon to make me more aerodynamic and, hopefully, go a little bit faster! I’m starting to feel better now, so hopefully full training will resume shortly. Putting the triathlon bars on my bike did suddenly make it all feel very real and it took me ages to get to sleep that night.

Joseph is now fully recovered from his bug and is on great form. It’s funny how, even with all his disabilities, in many ways he’s just like any other child of his age: we’re having great fun trying to get him to eat any vegetables and fruit at the moment! He screams at us as if he’s in agonizing pain and big tears roll down his face. What a drama! It’s amazing how his tears dry up and the agonizing pain subsides within seconds of the first mouthful of yogurt…

Joseph had a double whammy of psychomotricienne and physiotherapy today. Both therapists were really happy with his progress. He was holding his head well when following stimuli and his face was very expressive as he anticipated bubbles landing on him and bursting. His right hand was much more mobile - he opened his hand and clutched things much quicker than usual.  His left hand was less co-operative but in general, Joseph was much more present, interactive and interested in what was going on today.  He was dishing out smiles and charm by the bucketful!

So while I’m busy messing around swimming, biking, and running, what is Joseph up to?  Joseph has a very busy weekly schedule, as does his poor mum who has the job of taking him everywhere.

Joseph needs constant care and physiotherapy.  Unlike other children his age,  Joseph is not capable of very much physical movement: he can’t sit up, crawl, walk, run, or most importantly, play and entertain himself.  This means that he spends a lot of time just laying on his back or sitting in his special chair.  In addition, his digestive system doesn’t work very well: firstly, he cannot coordinate chewing and swallowing food and risks getting food in his lungs which is potentially life threatening. Secondly, his digestive system doesn’t work very well as it requires two things Joseph hasn’t got much of: muscular control and gravity (it’s much better to stand up or walk after a meal than to sit down or lie down).

So here’s a break down of all the appointments Joseph regularly has:

• Therapies:
  • Physiotherapy: to mobilize his joints and loosen his muscles.
  • Psychomotricienne: (we don’t know the English equivalent! Something like psychomotortherapy): this is like physiotherapy but involves stimulating the patient in order to self-mobilize. For example, rather than physically manipulating a child’s head and neck like a physiotherapist, a psychomotricienne will hold up a picture or mirror and move it around the child’s head. The child will naturally look at the mirror or picture and turn their head to follow its movement. Personally, I find this therapy the best because not only does it exercise Joseph physically but also neurally.
  • Orthoptist: eye exercises. Our eyes require muscles to move them and to control focusing of the lens. Not only that but the eye must then send back the image signals to the brain. Since Joseph’s communication nerves are not working properly, none of this works properly. To this day, we don’t really know how much he can see. An orthoptist exercises Joseph’s eyes much like the pyschomotricienne exercises his body.
  • Ophthalmologist: eye doctor. Checks that the eye is physically developing and functioning properly. Joseph’s eyes seem to be developing perfectly which is good news.
  • Speech therapy: in young children this also focuses on chewing and swallowing.
  • Pyschology: for all three of us.  This doesn’t really work for me so I don’t go, but Colette finds it very helpful.  In particular, the psychologist is someone you can just off load to without worrying if you’re boring them. You can also ask them the best approaches to dealing with certain situations. For example, it’s very hard on myself and Colette when we see other children of Joseph’s age doing so many things. Another good example, is how to deal with well-meaning strangers in the street asking about Joseph. This would be fine if it was just the odd person here and there, but when you get asked 10 times within a single visit to the supermarket it can get quite straining.
• Consultations:
  • Neurologist: the neurologist generally coordinates all of Joseph’s care as well as doing what neurologists do.
  • Gastric specialist: regularly examines Joseph’s stomach and throat to make sure that he is tolerating his tube feeds and that everything is working properly (e.g. make sure that he is not getting too much acid reflux, his stomach isn’t too bloated etc).
  • Pediatrician: checks Joseph’s weight, size, and health - also provides us with ongoing prescriptions for Joseph’s drugs (laxatives to help him keep regular as he can’t push, stomach acid tablets as he has a lot of reflux and painkillers for times when he has inexplicable bouts of crying and seems to be in pain).
  • Dietician: ensures that Joseph is getting the correct calorie intake and minerals and vitamins.
  • Orthopedic doctor: checks that Joseph’s bones and joints are developing properly and makes sure that he has the correct equipment to help his posture and development via corset seats, fittings for Joseph’s bed, bath seats, etc.
• Controls (to check for problems):
  • X-Rays: lungs, hips, and spine.
  • Blood tests: check nutrient absorption.
  • pH stomach analysis: check acidity balance in the stomach.

In general, Joseph sees the physiotherapist and the psychomotricienne once per week each. Then he has usually at least 2 or 3 other appointments. The specialists take care not to overwork Joseph because he becomes tired very quickly and, once he gets tired, he goes into a very rapid decline.

I should add that all this care and support comes courtesy of the French health service which, I must say, has been absolutely amazing. In some respects we are in a difficult situation living a long way from either of our families, but in this respect we couldn’t be in a better place.