There are days, when you have a family, that live long in the memory. Days that sit comfortably in the back of your mind, and are remembered the same way each time they break through the humdrum of life to say hello. I personally had one of those days in February of this year. A day that took my breath away. My son was diagnosed with a rare condition that sent my mind racing. Bardet-Biedl, Bardet-Biedl, Bardet-Biedl – like a mantra, like a freight train, over and over I had this phrase in my head without knowing what it meant or would mean or did mean.
The geneticist was very nice. She was very sorry to inform us that Callan, our five year old son, had Bardet-Biedl Syndrome and, as our three year old son Luca was also born with extra digits, then a positive diagnosis was probably in the post for him too. This was a very rare condition that affected the eyesight and could explain the problems Callan was having with his social interaction and his speech and why he sometimes looked a bit chunky around his midriff. I am sitting thinking – hold on, did she say eyesight???? Wind the tape back, Callan had his eyes tested recently and the optician said his eyesight was perfect. What is she doing talking about the possibility of him losing the ability to see? Bardet-Biedl, Bardet-Biedl, Bardet-Biedl – take a breath and then ask her politely something about eyes? Maybe she got us mixed up with someone else? Oh, it is called Rod Cone Dystrophy is it? A degenerative condition you say, Retinitis Pigmentosa, a high probability of the boys both being affected – no possibility of a mistake? My wife and I are both carriers? It would probably be best if we went home and looked it up on the internet would it? Okay, but I am on a back shift and I have work to go to.
I went to work that night and after looking at the internet for about fifteen minutes promptly broke down and realised my life would never be the same. Now I was going to share my days with Mr Bardet and Mr Biedl. Or Bargo Bingo, Bordue Baldo, Bilbo Bongo – I had Bardet Biedl going over and over in my head but every time I tried to say it out loud I couldn’t. Eventually I had to think of Bridget Bardot (close enough to Bardet) and Jeremy Beadle (well it did feel like I was on a candid camera show). I cried that night – at work in front of a colleague - and wondered what I had done to deserve this. ‘Bardet-Biedl’, I finally managed to say it out loud to my boss who said it was okay if I took some time to get my head round it. Take as long as I need. It must be quite a shock. He can’t imagine. Yeah neither can I mate but thanks, I’ll take a few days.
I went home and trawled the internet for any morsel of information and quite quickly stumbled upon the LMBB Society and their website. And so I was introduced to a very exclusive club – My Brethren of the Freaky Gene. Seven weeks or so later we received a letter to say that Luca was in fact also affected by Bardet-Biedl Syndrome and we now had two children (out of three as we also have a daughter Jorja who is ten months old and is thankfully just a carrier of the affected gene) who have ‘additional’ needs.
‘It's a lot to take on board....but they are still the same kids that we loved yesterday, even if someone changes the label they want to put on them today’
This is from “Letting Go” by Phil Humphreys, which I had the great privilege of hearing him read at the annual conference this year where I got to meet some of the brethren in person. (I was the Glaswegian still in the bar at an ungodly hour on the Friday night drinking with Eamonn Logue’s daddy). I think that I am the originator of this thought as I spoke to Phil’s wife, Chris, a few times in the run up to the conference about how I was feeling about the diagnosis and about attending.
The kids didn’t change overnight with this diagnosis and the world didn’t stop. My wife and I just had to realise that there was no point in getting down about the diagnosis because there was nothing we could do to change things. We have asked ourselves “why us? Why did we have children together when this could happen? My explanation is that we got together because of the affected gene and that was the reason for the attraction between us. But we haven’t got bogged down with these questions because to question the whys and what ifs doesn’t do anyone any good. If we hadn’t got married then we wouldn’t have Callan, Luca and Jorja – three little people that bring us a lot of joy and we are not an exclusive club in this area. (The number of people who shed a tear when we told them about Callan’s initial diagnosis; nursery teachers, health visitors and friends – not to mention family - is testament to what great kids they are – he said full of pride with a realization that most of this is due to the fact that their mother is a special person who I don’t give enough credit to for my lovely children).
We have come to the realisation however, that if the children are to have sight problems, then it would be best if we allowed them to see as much as possible, as clearly as they can, while they still can. Which brings us to Disneyland Resort Paris. My father, when he heard about the diagnosis, told us to book a holiday and he would pay. We thought about bumping him for a fortnight in Florida but decided that it would be too long a flight for three kids under six. So we decided a week in Paris, staying in one of the Disney hotels would be the best way to take advantage of his kind offer, without totally taking advantage of his purse strings.
The Disney Corporation’s tag-line talks about the magic of Disney and boy do they have it sussed. Buzz Lightyear, Mickey Mouse, the Incredibles, Lightning McQueen and Tow Mater, Donald Duck, Goofy, Sully, Captain Hook, Peter Pan, Pinocchio, the Lion King, Tigger and Pooh, etc, etc, etc. (I could make a joke about Disneyland Resort Paris having a lot of character but I can hear the groans already.) Two hours from Edinburgh Airport and you are transported to fairy-tale lands that blind you to the expense with pirate ships, river boats, space cruisers and castles. We had a week to see it all, and what a week it was. Our room, in the Newport Bay Hotel, overlooked a lake with its own lighthouse and you could see the Disney Village. We weren’t even on the top floor so you can get an idea of how big the hotel was. And then we made our first foray into the Park and I must confess the place has a beauty that makes the world a sight for sore eyes. Walking up Mainstreet USA we were suddenly transported to America without crossing too many time zones. We had left Glasgow only a few hours before and suddenly we had the prospect of roller coasters and high-flying Mr Incredible. We walked into adventure land with Buzz Lightyear’s Laser Blast and Space Mountain II and suddenly my wife had four kids to contend with. I think Callan would like to be a Space Ranger when he grows up. The first day at the park we luckily walked up to the Buzz Lightyear ride just as the daily parade passed so there was really no queue to speak of. Callan had a blast at Emperor Zurg who he still knows is a ‘bad toy’ and Luca sat and drank in the colours in a quiet state of wonderment. Luca was perhaps a bit too young to realise exactly what he was letting himself in for during his week at Disneyland but would definitely peak later when he got to go on Casey Jones’ Railroad – a mini rollercoaster for budding train drivers.
Trains are Luca’s thing at the moment. Thomas the Tank Engine, the Polar Express, sitting outside various local stations waiting for them to arrive and depart, so it was great that there was a steam train that toured round the outside of the park that we were able to ride, get a good view of all the rides and keep the “Duke” as we fondly call son number two, entertained. I didn’t venture onto any of the big rides on the first day but after visiting the Laser Blast again on day two I worked up the courage to hit Space Mountain, a rollercoaster that loops the loop and corkscrews in the dark and – holy moly it was faaaast. Callan, Luca and Jorja all shared the same affliction at the Resort – Let’s call it the Disneyland Resort Paris Effect. Each night the three of them got as high as kites and refused to sleep at any time reasonable. Our room had two double beds and the idiot box didn’t have any soothing adult channels to lull them into exhaustion, well not in English anyway, so jumping on the bed, throwing clothes onto the floor and their toys into the travel cot seemed to be the order of the day. The kids had a ball.
I must admit, I wouldn’t say that our time in Disneyland was the most relaxing holiday I have ever had, in fact, I could probably have done with a holiday to get over that one once we returned, but the one thing that I can honestly say is that we hardly thought about, or talked about Bardet Biedl in all the time that we were there. We didn’t discuss the numerous appointments that we had been to or the ones that we had pending. We didn’t have to explain to others what we were facing or how we were feeling. We didn’t have to worry about the money we were spending and how we were going to pay the bills. We could just enjoy the fact that the sun was, for the most part, in the sky roasting us and worry about the poor French students who had to dress up as Donald Duck, Eeyore and Chicken Little, parading around getting their photos taken with all the brats of the day. (Our three are obviously not included in the previous statement). Disneyland Resort Paris was an escape and was escapism of the highest quality.
I now have a confession to make, a confession that involves me coming clean about what a terrible parent I am and one that, four weeks later, I do feel extremely guilty about… I confess that I Big Thunder Mountained Luca!!!! Let me explain. When we first went on Casey Jones’ Railroad Luca initially loved it – he was laughing and shouting whheee as the train went up and down the slight inclines. Well, towards the end of the ride I felt that Luca was left wanting more. I thought that he had initially liked the speed of the thing but had ended up disappointed that it didn’t go faster….which is where Big Thunder Mountain comes in. BTM is a fully fledged rollercoaster that is also a steam train in a gold mine. Luca likes trains and he made the height restriction (just) so I could blame Disney for letting him go on it but no – the blame lies with me. Callan, Luca and I rode the train and I think in retrospect it was a mistake and that number two son was still slightly too young for such an adventure. He was okay when he first got off the thing but when we went back to where his mummy was, the experience overwhelmed him and he needed a bit of consoling. I, however, felt terrible. Even after he was calm and the experience was forgotten.
I probably should also come clean about the fact that Luca was a bit frightened by Armageddon where you are taken onto a mock film set that is a space station about to be hit by an asteroid, the Studio Tour where you experience an earthquake and a flood, the Motor Stunt Show that had loud cars and motorbikes and explosions and also the Haunted Mansion …well, the name speaks for itself. And sometimes, I am thinking Disneyland is perhaps not an ideal place for a three year old with Bardet Biedl syndrome, getting to grips with the world. Then I see Luca cutting about carrying the Mickey Mouse we bought him and I realise that he did love being there even though his terrible father put him through the mill. Anyway, we all survived our time at Disneyland and the Grandparents were given presents that consisted of piggy banks so they can start saving for next year when the Clark Family feature in the sequel “The Clark Family ‘do’ Disneyland II – the Return to Paris.”
We are now back to the normality of work, bills to pay and appointments to attend and then even more appointments; Ophthalmology, Endocrinology, Nephrology, Dentistry and there are meetings with Speech Therapy and Dieticians, Schools and Language Units, Paediatricians - and then there is the GPs for the colds and flu that the children seem to get. We are back with dates for diaries and with questions for specialists, with thoughts that - wouldn’t it be good if the website had a forum for parents to discuss the treatment they have received from the various specialists they have to deal with? Could we get together a list of the relevant questions that we should be asking when we are going to these appointments? The thought that we could be more prepared, that we could have a list of things to ask (with the expertise of others who have already experienced what we are going through now) is a suggestion that I think is a good one. I would like to take credit for it but I have to be honest and say to you it was my wife (who has been going to all the appointments when my work commitments don’t allow me to attend everything) who came up with this idea.
We are still new members of the Brethren of the Freaky Gene but we know now the holiday period is over, and now we have to look to the future. We have to get over the shock of the free membership to this exclusive club (we don’t normally get anything for free) and get to know as much as we can about Bardet-Biedl Syndrome. There is still a freight train in my head and everyday it still rumbles through; Bardet-Biedl, Bardet-Biedl, Bardet-Biedl – but now that I realise that my family is on a journey, it no longer keeps me awake at night…..that is the kids being kids’ job!!!!
With my best wishes to all the brethren.