Receiving a diagnosis of Bardet-Biedl Syndrome can be an extremely emotional time for the person concerned and for family members. One of the most powerful things we share as a community are our personal perspectives. By listening to other people's experiences it helps our understanding of what it means to be affected by BBS. It is a challenge that will affect us all in different ways and these personal perspectives can be positive and inspirational as well as helping those who are struggling to cope. You can also listen to some personal perspectives on our BBS Video Resources page. Thank you to everyone who has shared their story because you will all have made a difference to someone.
Difference Doesn’t Mean Deficit
Personal Perspective – By Rodger Thyer-Jones Rodger Thyer-Jones, 6th Dan UK World Seido Karate Organisation.
On one of the coldest, wettest, windiest days in January 2006, the Humphreys family drove up to the top of Eglwysillian Mountain in Wales, for me to take part in my latest quest for adventure, QUAD BIKING!!!! ‘Wouldn’t you like to cancel for a dryer day?’ – ‘No way! What’s a drop of rain?’ (Gale force) My Mum’s such a wimp!
After suiting up, my Dad followed me and the instructor from the muddy farmyard to the field with only the sheep for company (Mum stayed in the car!) Dad later drove the car up to the field so that they could watch me practising. Mum was worried that with the rain and mud flying I wouldn’t be able to see, but as I said before we left home, ‘I can’t see anyway!’
After mastering the ‘nursery slopes’, I was off over the hills, for the ride of my life. The instructor was impressed with my co-ordination and ability to follow. Although I couldn’t see the bike in front, I put my head to one side and followed the sound. My motto is ‘you don’t have to have sight to achieve your ambitions, just go for it’. The centre had experience with Special Needs and all precautions were taken; lead bike, then me, followed by another instructor (just in case of accidents).
Summer 2006, and a week at Westward Ho! Rest and relaxation in Devon? - Not likely! Monday was quad biking, again booked beforehand, with one to one instruction, no rain today, BRILLIANT. Friday, eight hours booked at Skern Lodge Activity Centre. I was assigned two instructors for the day. I had chosen my activities beforehand and participated in abseiling, wall climbing, kayaking, snorkelling, zip wire and archery. I had a fantastic day and the instructors thanked me for giving them a ‘brilliant day’. The zip wire was impressive, ‘do you want the easy way or the hard way?’ they asked, obviously the answer was the ’hard way’ and a straight 40ft drop ensued, ‘brilliant, can I do it again?!’ It was like dropping into the black hole. Kayaking and snorkelling also proved a hit, in fact the whole day was worth every penny and I can thoroughly recommend the centre.
Christmas 2006 and my sisters booked me another quad biking session up on the Welsh mountains, but this time I am going to wait for finer weather.
March 2006 and I was given the opportunity to spend four days on Exmoor at the Calvert Trust Outward Bound Centre with other adults with learning disabilities and their carers. I did rock climbing, abseiling, zip wire, archery, horse riding and canoeing and speed boat, and had a wonderful time as the photos prove. It was great to take part in the activities of ‘normal folk’. I am now thinking of taking up horse riding!!!
April 2007 - Quad biking again and pony & trap with friends who live locally and guess what? YES, it rained, but it was a great experience, and I can’t wait to go again and spend time at their stables. Also in April, the LMBBS Conference outing. No staying behind to listen to the conference for me. I much prefer hanging upside down on the rides at Drayton Manor and making the carers do the same! I had a fantastic day out with all my friends.
August 2007, at last, after 3 months of cancellations because of the weather conditions, my tandem parachute jump to raise money for LMBBS. Absolutely fantastic, and this time I came somersaulting out of the plane, and the instructor kept taking me back up, I thought I was never going to come down, I only wish I could have gone up again. I am going to book a double lesson flying a micro light James Bond type plane next, I can’t wait.
As you can see I lead an exciting life; I would like to ride the ‘do-nut’ on the back of a speed boat up the river next!!!
I keep active in between my exploits by attending the gym once a week and working out at home, going swimming and practising Aikido, having recently achieved my orange belt. None of these things would have been possible if I hadn’t made the decision in June 2001 to lose weight. At that time I weighed 18st 7lbs and was not very active as you can imagine. The idea was put into my head to lose weight and do something for LMBBS to raise money, hence my first tandem parachute jump.
Losing weight has made such a difference to my life. I have gone from being a couch potato to having the confidence, with the help of my Parents, Rehabilitation Officer and Family Aides to live an active and independent life. As I have said ‘Who needs sight to achieve your ambitions’.
Day to Day Living with two young adults with LMBBSMargaret Begley
“My name is Margaret Begley; I am married to Terry and we have three children, Michelle, 28, Christopher, 27 and Terry, 24, and four grandchildren. Michelle and Terry both have LMBBS. Michelle was born with two extra fingers; they were only skin, so they tied them and they came off. Michelle was born with both feet turned in and was in plaster until she was about two and a half; she had a lot of operations. Michelle didn’t like sleeping very much when she was a baby; we’d be lucky if she slept two hours a night, she was always hungry. Except for the night blindness, Michelle hasn’t had a lot of problems with LMBBS. She is a care support worker at a local Hospital; she has been there for ten years. Michelle has a daughter called Victoria, who is nearly six. After Michelle, we had Christopher, no problems at all, and next came Terry. Before Terry was born, we were told that he had cysts on both kidneys. When Terry was born, they took him to the special care unit to check him over and he was nearly two days old before I cuddled him, because I was ill; I had to have a blood transfusion. A student nurse brought Terry to me; she was looking at him and said ‘Oh, I didn’t know he had six fingers and toes.’ I said ‘Neither did we.’ None of the doctors had checked him over. I cried and then thought better to have too many than not enough.
Terry was the image of Michelle. Terry was five days before we went home. He was always hungry and didn’t like sleeping, like his sister. Lucky for us, Christopher enjoyed sleeping. We had to go to Singleton hospital for tests when Terry was six weeks old. The specialist called us into the office and told us that Terry had polycystic kidneys. He said he wouldn’t live past three months. We were so upset and couldn’t stop crying for days. We were then referred to Cardiff Royal Infirmary Hospital. They did a lot of tests on Terry. He stayed in there for two weeks. It was terrible watching him crying, with all the tests he had done. I just wanted to take him home and keep him safe from everyone.
Then, they referred us to Great Ormond Street Hospital. They did tests on Michelle, Christopher and Terry. They told us Michelle and Terry had Laurence-Moon-Bardet-Biedl Syndrome. We just looked at them. What do those words mean? We didn’t know. They told us it affects the eyesight, kidneys, and weight. They were more interested in Terry’s extra fingers and toes. Doctors came from everywhere to look and take photos. They asked if they could put the photos in a medical book, so Terry has famous hands and feet.
After two and a half weeks, we went home. Now we had a name for what Michelle and Terry had but still didn’t know what to expect. The doctors would ask us about it because they hadn’t heard about it. LMBBS had changed our lives. When Terry was eighteen months old, he had his extra digits cut off. He started nursery when he was three. He used to kick and scream because he didn’t like going. Terry could only say ‘mammy’ and ‘daddy’ until he was about five. He makes up for it now. Terry started infants in a special class; he got on well. Then he went into an ordinary class but had one to one support and speech therapy twice a week. Terry did go through a lot of bullying. He had yoghurts poured over him, he was pushed, called names, made fun of, mostly because of his speech and his weight.
Once, Terry went on a school trip. He fell down a very steep bank into a stream. Luckily, it wasn’t very deep. His body was black and blue. We went to the school to see what went on. Even though we informed the school, they didn’t realise how bad Terry’s eyesight was. Terry missed a lot of schooling. He was always in and out of hospital. Anything going around, Terry would get it. When he was seven, he had his tonsils out and grommets put in his ears, but the grommets damaged his ears and so he had to have another operation to repair it.
When Terry was about nine, his Doctor told us about a group of people who had LMBBS, that meet up. He gave us the phone number. As soon as we got home, we phoned the number. Drina Parker answered. She was really friendly and invited us to the day conference in Coventry. We didn’t know what to expect, but at least now we knew we weren’t alone. So we attended our first conference – it was great. We were made so welcome and it was good to meet people who knew what we were going through, because they were as well.
Terry was fifteen when he lost his sight altogether. He had his gall bladder removed but he didn’t want to part with all the gallstones because he’s still got some floating around. Terry never made a lot of friends in school. He played with his brother and sister, and his cousins, but he was much happier playing with his wrestling figures. Me and my husband went through blaming ourselves. I have cried so much in the last twenty-four years – not for me, but for Terry. It has been hard. He has been through so much and is still going through it. Terry loves to talk about his extra fingers and toes. He thought it was great, having more than others. Every year, we look forward to the conference. Terry loves coming to the conference, especially to see Phil, who always gets Terry shouting about Manchester United. No wonder he’s got high blood pressure.
Terry has fallen down the stairs a few times, walked into doors, lamp posts. Terry did have cane training from our house to the shops, but Terry never had the confidence to go out by himself, no matter how hard we tried to get him to. When Terry was at school, one of the teachers, Mr Tanner, took Terry to do the Duke of Edinburgh award. He passed the bronze and silver but had left school before he could do gold. We got him in a few places that did it but they never included Terry. He was always sat in a corner on his own, so Terry never finished it. One year, we came to the conference.
Drina said ‘We were worried about you’, because we were late. It was ten o’clock when we got there. Terry shouted at the top of his voice ‘We had to go back home because my mother forgot her purse and the money.’ Thank you, Terry.
I can’t remember a time when Terry hasn’t been in pain. It has been so hard to watch a child suffering and there’s nothing you can do except cuddle your child and tell him it will get better, but it hasn’t. Terry has been having stents put in his drainage tube from the kidneys. The doctors have been talking about doing an operation, but it is risky. They don’t really want to do it because Terry is so young. Terry’s weight has always been a big problem since he was a baby, but the last eighteen months, Terry has lost over six stone and still losing it. We’re so proud of him. We know how hard it has been for him to give up his favourite foods. If Terry had a life like other people his age, it would have been easier. Terry went to Swansea College for three years and then took a year out to have a rest. Terry now attends Swansea University, doing computer science. The university had a lot of problems, at first, trying to get things right for Terry. In the beginning, I think Terry wanted to give up. He felt they didn’t want him there. He was so sad, that his lip used to quiver because he was so upset, but, now things are being sorted out, Terry is a lot happier there.
Every night, Terry checks the windows and doors are all locked. He comes home from university in a taxi. He gets out by himself, comes down to the house, and lets himself in. Every night, he gets me and his father a cold drink, tells his father all about the news that is going on in the world. Terry is really loud himself, but, if anyone shouts or there are loud noises, he covers his ears and gets upset. He says it hurts his ears.
Terry has always had a lot of temper tantrums; he still has them now. I always worried about Christopher when the children were growing up, because Michelle and Terry needed a lot of my attention. If I could have done anything different, I would have made Terry less dependent on me. I would do everything for Terry, thinking I was helping him, but I haven’t helped him, because I am so worried about what will happen to Terry when I am not here. You’ve got to let go. I never really did. Terry is a happy young man, so loving and caring. He never complains, with all he’s been through. We’re so proud of all our children but especially Terry.
We all love coming to the conference every year.
We learn something new.
Thank you everyone, especially Chris, for all your hard work.”
The Clark Family "do" Disneyland – by Alan Clark
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.
To give you a brief background, I have 5 children, well Chris and I have 5 children, 2 home-grown daughters, 3 adopted sons, James being one of them and 2 granddaughters. The boys all came as foster children, just for a month they said with each placement and the months turned into years, which is fortunate for us as they are as much part of us as the girls. We have just resumed fostering after a 12 year break and currently involved with respite care, weekends and holidays (this is our weekend off) along with the before and after school child-minded children, + a dog and cat, life is never dull in our house, sometimes it is a pleasure to escape to work.
29th January 1982 was the day that was to change our lives forever. James a 3 week old baby whose only ‘problem’ was that his feet and legs were in plaster casts having been born with ‘talipes’ or club feet, needed foster parents who lived close to the hospital. 3 years and 10 months later after surviving on shifts of 2 hours sleep a night, (it was a relief to go on night shift in those days) colic, tantrums, woe betide if the cat or the dog got in his way, or who put that piece of leggo back in the wrong box, everything was colour coded, the whole lot would go, chairs and tables overturned in nursery, food allergies, hyperactivity, constant ear infections, mystery viral infections, ever heard the one ‘if in doubt it’s a viral infection’ well he had more than his fair share, unsuccessful operations to correct the talipes, reactions to anaesthetics, medicines, I could go on….. By this time we more or less guessed that he had ‘one or two little problems.’ It was during one of his & Chris’s stays in hospital, this time the Dental ward to have all his teeth removed (for which Chris was blamed for giving him orange juice in a bottle), that we met a Consultant who himself had a hyperactive child. So we joined the Hyperactive Support Group and within days of removing all additives from his diet. He slept from 11 pm until 4 am, we rushed in to see if he was still breathing, and for the next few years we were to have at least 5 hours sleep a night. So began the slow process of behaviour modification, working in seconds and then minutes, patience was the rule of the day.
From Hyperactivity we moved on to Dyspraxia. I will miss out the next 6 years of orthopaedic surgery, various other illnesses and stays in hospital and go to the diagnosis. Chris was always adamant that there was more wrong with James than the medical profession or I would admit. I always felt ‘that with patience, things would come right in the end’.
I will never forget that day in October Half Term 1993 (11 years since we first queried problems with his sight), all in the imagination they said, he has a wide bridge to his nose, until at 2 1/2yrs a consultant finally said, where have you been this child is so short sighted he is almost blind in one eye. We told him exactly where we had been, back and fore to clinic every 3 months, but I digress. I took James to see the Ophthalmic Consultant, (we had been referred by our Paediatrician after yet another stay in hospital) only to find that there was no clinic, I can assure you they soon found a Registrar and then being told in a corridor, that yes your son has RP and he will be blind by the time he is 18 years old. How was I going to go back and tell Chris, she had only stayed at home, because it was half term and at that time we had 4 other foster children including a 3 month old pre-adoption baby who was meeting her new parents for the first time that day?
It was to be another 4 months before we had the diagnosis of LMBBS, was it Refsums or was it Ushers, losing the blood samples and starting again, how James hated those needles. James was still in and out of hospital, with inexplicable high temperatures, extreme burning pains in his legs, you could almost fry and egg on them, presenting with M.E. like symptoms, weight gains of up to 7 lbs in a weekend, he was ballooning in front of our eyes. One consultant even told us ‘that he couldn’t possibly be in pain as his legs were far too fat, and then discharged us’. I will leave you to imagine Chris’s reply!!! Eventually Chris and her constant searching found LMBBS and presented it to the Consultant and Psychologist, ‘Ah yes’, they said, it was next on our list.
For Chris there was an initial euphoria, in that at last someone believed her, but that wasn’t to last as the guilt of the wasted years set in. Chris contacted the Society and we attended our first day conference at the end of February, 1994, but all of that and our current involvement with the Society is another story.
I had great difficulty accepting the diagnosis. We have always been a close family, but whilst Chris was in the depths of despair, I was in denial; this was my son, if you didn’t talk about it, it wasn’t happening, and everything would come right in the end. This went on for over a year, with neither of us being able to talk about the real issues. Home life changed, we decided that we could no longer foster any more short term children. Chris and James were frequent visitors at Great Ormond Street, where at least Chris felt she was being taken seriously and all that had happened over the last 12 years slotted into place.
With the help of our daughters I became the ‘house-husband’ caring for Andrew & Ross, who were 8 & 7yrs at that time, (how does one coloured sock always get into the washing machine with the whites). There were also frequent local hospital appointments and for a time LMBBS seemed to dominate our lives.
Of all the problems that James has and has had, it was the prospect of him losing his sight that has affected me the most, because I can’t visualise my life without sight, and I think that this is the case for the majority of parents I have talked too, but for James the deterioration has been gradual, (he was already losing his sight when diagnosed) allowing him to use different strategies and coping mechanisms in his day to day life.
15 months into ‘Life with LMBBS’ and a make or break appointment with a counsellor, who was herself visually impaired. For the first time we were able to discuss our feelings in depth, although harrowing, this was the start of the acceptance of the syndrome and the return back to family life.
In 1997 a simple surgical procedure on his leg, in preparation for major surgery on both knees, damaged a nerve, leaving James in constant pain, needing to wear a calliper, virtually wheelchair bound and receiving home tuition. This was to last almost 2 years and was one of the lowest points in James’ life, leading to depression and weekly visits to the pain clinic, taking a cocktail of analgesic and anti depressant tablets daily and for the first time questioning ‘Why do I have LMBBS’. A difficult and heartrending question to answer as most of you will agree, but out of this came a change in our Father/son relationship because until then James, and I think most fathers will agree, was very much his ‘Mother’s son’, with a very strong, dependent bond, but this gradually changed, with James and I becoming closer as I became more involved in his personal care and daily needs.
James has a wicked sense of humour, warped in fact; he likes nothing better than a good laugh. Two of his favourite comedians are Brian Connelly and Joe Pasquale, who we went to see at the Cardiff International Arena last year. Oh how he laughed. We often visit the cinema, I do however draw the line at the Blood and Gore films which he relishes, so what does he do, asks one of his family aides to take him, saying ‘Dad’s a wimp’
Since that 2 year blip in his life, his sheer determination to overcome his pain, dispense with the calliper, wheelchair, all medicines and his acceptance of the syndrome, James has been fantastic. Looking back, he has always enjoyed his life to the full, always a popular member with his peer group and staff in school and college, but since his late teens his love of extreme sports has given him a whole new dimension and me a head of what’s left of very grey hair.
There was a tendency in the early days to make him too dependant on us, afraid to let him venture too far in case anything happened. It’s always the ‘firsts’ that you remember, the first day of cane training, he loved it, (we cried) a couple of hours a week out of school and a rehab officer who used to take him for jam do-nuts, his second, our very own Sue King wasn’t as generous, but soon learned that a knowledge of Star Trek and Star Wars went a long way. Then there was the first Braille lesson, again the tears from us, the laughter from him, when he succeeded with his homework and his mother failed, I didn’t attempt it, and so it went on.
Initially James refused to use his cane on his own or with us, preferring to fall over rather than be seen to be ‘different’ as he put it. (I think this is something that all the adults here will agree with). Eventually he realised that if he wanted his independence he would have to resume cane training, which is where Sue King came back to help. I must say she has taught him well. Goodness help the person who tries to walk in front of his cane, they soon receive a sharp knock on the ankles, as he says ‘they can see me, I can’t see them’, the bane of his life is ‘Mother’s and pushchairs,’ they never seem to see him until he walks into them.
You have to put your trust in other people to care for your sons/daughters as you would, and that is not always easy.
Sue King left and a new Rehab Officer replaced her. After several weeks training, the time came for him to use public transport on his own, how I worried; there have been times when he has caught the wrong bus. On one occasion it had been snowing and we didn’t want him to go out, but……. Mr Independent insisted, he was 2 hours late returning, I had contacted the Police and Hospital only to see him walking down the drive,(he had got on the wrong bus and ended up in another village) oh the relief. (I didn’t dare tell him about the phone calls, any way his Mother made me do it) I wish he would use a mobile phone; he has one, but keeps it switched off in case his mother or sisters try to contact him.
For those of you who know James, he is a happy go lucky young man, registered blind, with a love of extreme sports, with 2 mottos ‘Who needs sight to achieve their ambitions’ and ‘No gain without pain’ and he has certainly experienced that.
In 2001/2 in order to raise funds for the Society, he embarked on a healthy eating plan and lost 8 stone, when a member of the family suggested he attempt a tandem parachute jump. Incidentally, as a result of the weight loss he no longer needed orthopaedic surgery. He loves Star Wars, Star Trek, gory horror films and Aikido, recently gaining his yellow belt, even if he does come home with bruises from the falls. He enjoyed an archery course, with his family aide guiding him,’ up a bit, left a little, fire’ and often achieving bullseyes. He enjoys quad biking, following the sound of the lead bike, swimming, snorkelling, kayaking and the gym, the only activity he would not do again is caving. (And I wouldn’t have done it in the first place).
In June this year James is embarking on his second tandem parachute jump, again to raise funds for the society, this time he wants raise funds towards the cost of the airfare and accommodation to bring Professor Lewis over next year and with the moths flying out of his wallet, is contributing £100.00 towards the cost of the jump. (So, if anyone else would like to sponsor him, all donations gratefully received.) He constantly looks for any activities that make his mother squirm and much to his disgust she has said NO with a capital N and 0 to bungee jumping.
He recently spent 4 days on Exmoor on an outward bound course, with a group of adults with learning disabilities and carers, he had an absolutely fantastic time, rock climbing, abseiling, canoeing, horse riding, zip wire and more, yes I was worried, especially when he said, ‘I will only ring home if I break a leg’, but who am I to stop him, ‘It’s all part of the ‘Letting Go Process’ and boy oh boy is it hard, but if he can accept his disabilities and limitations then so must I.
I could talk about James forever, I am so immensely proud of him, as I am of all my children, but James is and always will be special, a son to be proud of, overcoming so many obstacles in his life to become the person that he is today.
Chris gave me this thought from a recently diagnosed family: 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’. How true this is.
I hope that one day James will stand here and tell you himself how he has coped and the enjoyment he gets out of life, but at the moment the lure of the theme park and hanging upside down on the rides takes precedence.
I will leave you with one of his favourite stories, as I have said he has a wry sense of humour, so I hope no one takes offence – ‘Dad, have you heard the one about the blind man and his guide dog doing a parachute jump. How did he know when he landed? – When the lead went slack!!! As I said a wry sense of humour.
I was diagnosed with BBS1 in October 2014. I am a Masters Law student at Bangor University and I live in Hertfordshire. I go to the Guy’s BBS clinic every year. I know this might sound strange but I was quite thankful of being diagnosed with BBS because it explained a lot of things that happened in my childhood. I’d always struggled to see long distance. I’d been given various glasses which didn’t help and I could not understand why. I went to university, not knowing why I couldn’t see in the dark. I’ve got a big passion for car racing, so I always wanted to drive but my local optician thought I might have a problem and sent me to Moorfields where I went through lots of tests and one of the consultants thought I might have BBS so sent me to see Professor Beales.
My eyesight is still quite good so I can do a lot of things in daylight, I am only blind in the dark. I am appreciative of the sight I’ve got left and I want to try and make a difference by helping people with BBS who maybe can’t exercise as well or be as mobile. When I went to my first clinic I was told I was obese and needed to lose weight. A real motivation for me was to try and raise funds for BBS UK. Nigel Hills was starting up a Cycle Across Holland event so I thought that sounded good motivation. I come from a family of cyclists so it is something I can do to help raise funds. Through that I managed to hit my target of losing the weight so there was a dual benefit to it. Stefan Crocker and myself are doing a 10 mile run on October 23rd. I’m his guide runner, so that’s going to be interesting. You’ve got me with bad peripheral vision and spatial awareness and you’ve got Stefan with limited central vision… I like to think of us as the Chuckle Brothers of BBS so we’ll see how that goes!
I hope I can make a small difference with Stefan. We’re trying to raise £2,000 for the charity. I’m hoping to give an interview on Radio Wales to try and raise awareness because not much is known about BBS in Wales. I want to try and put information out there about the cilia and research that is going on and how we need the funds to make that research happen.
I want to tell you a funny story from before I was diagnosed with BBS. As a student you go out and have a good time and have a drink. Getting slightly tipsy and being blind in the dark is probably not the best recipe for success! I was the social secretary of my university’s tennis society and heading home late one night, I suddenly realised it was very dark, all the street lights were off and I was in a bit of a pickle! I got to what I thought was my door, turned the key and thought - hang on a minute, why has the landlord changed the lock? I knocked on the door furiously asking for someone to let me in. I suppose I should have been wise to the fact that three Chinese people were standing at the door with spatulas looking at me very aggressively… and since when have we had a door knocker? And then there’s my flatmate standing two doors to the left shouting, “Christian, we’re here.” Unfortunately, I’ve not been able to live that down since! Another story is to do with food and being colour blind, which I am. You’d expect Ketchup sachets to be red, so when I picked up what I thought was a normal Ketchup sachet, it turned out to be vinegar, much to my horror after pouring it all over my food. Due to my pride, I tried not to let any of my friends know because they would have taunted me furiously for this. I ate all my pasta with this soaked vinegar on it and tried to cover up my blushes!
I hope to do more things because I’ve got a real passion for sport. It’s my way of coping with the disability, it makes me feel positive about it. By making a difference it feels like I’m fighting my own syndrome and over the last year I feel like I am able to conquer it. I will continue like that and hope it doesn’t stop me going into a career in law because I aim to become a solicitor.
One frustration has been with work where I have had a few setbacks because of BBS. I’ve had a few jobs where I turned up for work and although I told them I was disabled with eyesight problems, they said, “Well, you’re not registered. You’re going to have to work at the same pace as every fully sighted member in this factory.” Even though I can see in light, I was having to peer at things and unfortunately my supervisor didn’t like that and said I was working too slowly. I was threatened with the sack because I couldn’t see properly. Things like that have been challenges but I’m very fortunate now because I’ve managed to get a pub job with a lot of light above me.
My first ever conference has been lovely and I hope to keep coming. I am always happy to chat to anyone and share any experiences to build up a bank of knowledge so I can then go and present evidence to raise awareness and apply for funding and things like that. I really want to push knowledge of BBS forward.
I would like to tell you about my magical experience in Nepal.
Last year, on 19th October 2014, I was lucky enough to represent my country in the first England female visually impaired cricket match played in Nepal. I said goodbye to my husband, Sean and my guide dog, Diane at Heathrow airport and flew out to start my adventure. It was a long flight from Heathrow to Delhi and then from Delhi to Kathmandu; I arrived very tired but happy to be there. We stayed in Kathmandu for the night, before setting off the next day on a long 8 hour coach trip. The roads in Nepal were very dangerous with sheer drops either side of the road; there are a lot of accidents. My team mates, who had better sight than me, and the coaches, were very scared going round the corners. I sat there laughing as I couldn't see anything, so it didn't bother me. It didn't help when the coach driver said, 'If you look to your left, you can see the lorry that fell off yesterday,’ as we came round the corner, but we made it safely to Pokhara.
We stayed for three days, training and acclimatising, getting used to the heat. While we were there, we went up into the mountains on the cable cars and visited two temples. We went to local markets and tasted the local food; they were celebrating the Diwali festival. We took a 40 minute flight back to Kathmandu where we played our three matches against the female Nepalese cricket team. Unfortunately we lost the games but we didn't feel too bad, as they have been playing for nine years. We had a great time with the team and made some good friends. We visited the local blind school and saw how they live their lives, it was a great experience. We also went to the Ambassador’s residence for a reception where we had a meal with the Ambassador, the Nepalese team and local dignitaries. I'm hoping this is the first of many trips.
We got back to England on the 29th October; I was very tired but very happy. I was not much company for Sean when I got home, as I slept just about non-stop for a week, it was a wonderful experience. I am a much more active person since being diagnosed with BBS. If you told me before my diagnosis that I would be playing cricket for my country in Nepal, I would not have believed you. It just shows that when we put our minds to it, we can do anything. I play cricket, football, tennis and I do sonic shooting; I didn't do any of these things before and I would just like to say that even though we have BBS, we shouldn't stop dreaming and trying to achieve our goals in life.
Daniel came into our world on the 11th July, 1996. The most beautiful little slip of a thing with shocking red hair. My husband has black hair and I have brown, so of course I had to put up with endless jokes about the mythical ginger postman! After a rollercoaster pregnancy, I was relieved to finally hold my little man…. to my confusion, Dan had one extra little finger, perfectly formed and although we didn’t know it at the time, it was the start of his and our BBS journey.
Dan's failing kidneys were picked up at around five to six months and many tests followed at Great Ormond St Hospital, with Dan being diagnosed at around ten months old. There was no explanation of what BBS was and in those days, no internet. In the local library I found a book explaining the symptoms of BBS, in out of date and brutal terms. Time stood still a bit. We knew about the kidneys, extra finger and weight issue, however the potential learning difficulties and visual impairment was a shock. It was our genetics counsellor who told us a bit more about the syndrome and the LMBB Society and this was when we first made contact with Drina Parker.
After the wait to get pregnant and the roller coaster of pregnancy and childbirth, when things are not as they should be, it is important to allow time to grieve for the life we thought we would have and accept the one we are living. Raising a child battling illness and disability is an incredibly intense experience, especially when there is delayed development; every moment and milestone is so precious. As many BBS parents have experienced, having a child with disabilities tends to sort your friendship group out for you. It is hard to raise a baby with developmental delay, obesity, kidney failure and visual impairment in close contact with other, apparently healthy babies. There is too much comparison and too many competitive and sometimes unkind or thoughtless parents. I withdrew for a short time and my parents cocooned us and provided the love and support needed to get through the difficult early days of diagnosis and acceptance. They are our greatest cheerleaders and we simply could not function without them. Over the years, we got a grip on all things BBS, accepted our lot and woke up to the fact that very few families and people in life escape unscathed.
By the time Dan reached school age, I realised that it wasn't about me... there is nothing like the pain of watching your child struggle and suffer... but ultimately, we can leave the BBS mantle at home and go out socially and recharge. Our children have to live with BBS for the rest of their lives. Our role is to be their parent, their friend, their advocate and their cheerleader and help them make their lives as good as they could possibly be. There is no one else in the world who knows our child like we do, and we have to take this on board and make ourselves heard. Maintaining good relationships with the key people in our children's lives is vital, but we have to believe that we are an equal partner with medical, social and educational teams, whether they do or not. We have to use the resources available to us, to give our children the confidence, courage and self-esteem to know that they have a great deal to contribute to this world.
Sometimes this is easier said than done and there are just too many hills. I was at the House of Commons recently for the Rare Disease Reception and an MP spoke very passionately about the delegates in the room, who were all either parents or rare disease patients. She praised and thanked us all and asked us to keep pushing our MPs, to keep rallying and protesting and demanding to be heard. This made me quite cross. Isn’t it enough that we have to fight at a local level for our children to have access to decent health, education and social care, while at the same time cope with the demands of looking after our families, in between hospital stays and appointments? And of course, we are not immune to the life events that affect everyone else, in fact, families like ours are more susceptible to illness, relationship break-downs and financial hardship. I think one more glass of wine and I may well have started a riot!
As a family, we had three major worries when Dan was little, his weight, his eyes and his kidneys. Between four to five months, Dan ballooned from normal weight to clinically obese and like other BBS mums I spent the next X number of months and years explaining to all and sundry that I really wasn't over feeding him! He was an enormous baby, however we were strict, maintaining portion control and limiting treats to special occasions and although he was always chubby with a BBS tummy, we managed to get his weight under control. At around 15, Dan finally started shooting up and the excess pounds melted away. Dan has grown up with a conscientious attitude towards food and now manages his diet beautifully.
When Dan was three, his little brother, Connor, came along. Con was a gorgeous little boy, a ray of sunshine and he and Dan were good friends. It was hard on him though, as it is for all siblings of children with illness or disability; there was no child on this earth more loved, however he perhaps inevitably felt that Dan was more important and his self-esteem suffered. We worked hard at getting things back on track and although it took a while, we got there. Connor has grown up into a funny, loving, typically moody teenager, who loves his brother and is passionate about disability rights and the LMBBS.
Over the years, Dan became increasingly unwell and in early 2006, a viral infection put him on the path to transplant. My kidney was transplanted into Dan at Great Ormond Street Hospital. Daniel was only ten years old and was incredibly brave. He had been needle phobic his whole life and during this period, endured so many needles, canulas and tubes with absolute courage. By day two, Dan was off morphine and on paracetamol using the Playstation as a distraction. Meanwhile across at the Royal Free, I was hyperventilating because the morphine drip wasn’t working fast enough!
I missed Dan and Con so much but thankfully once Dan was discharged to the GOSH patient flat, we were able to be a family again. It was a tough few months for all of us, however we muddled through and came out stronger, individually and as a family. Dan’s kidney continues to do well.
Once we had all settled down after the transplant, the next worry reared its head, Dan’s vision. Dan was diagnosed with retinal dystrophy at around a year old and we settled into the routine of yearly check-ups. Not long after the transplant, at an ophthalmology appointment at our local hospital, the consultant was quite frank in front of Dan. Although Dan knew about BBS and his vision, it was a shock for him to hear it like that. The transplant had taken his mind off the long-term implications and he suddenly had to face it again. This was one of our more painful moments, seeing that realisation hit home. Running up that Hill is a song about swapping places – there have been so many times when myself and other parents like me have wished that we could do just that. We made our way home, all lost in our thoughts, when out of the silence, Dan pipes up ‘Horse walks into a bar, barman says…Why the long face!’ We were laughing and crying – a touch of hysteria I think.
You could be forgiven for thinking Dan was a joker and happy go lucky little boy but that couldn’t be further from the truth. Like many with BBS, Dan struggles hugely with his emotions. When he was little, emotional outbursts were a regular occurrence – the terrible twos (and threes and fours) for a BBS child, (and parent) are truly terrible! This phase passed, however the emotional difficulties remain, which makes it all the more remarkable how well he has coped with the various challenges over the years. I didn’t know whether to laugh or cry when I first saw him hook his finger over the cup to judge when it was full, it showed that his sight had deteriorated, but also showed a natural resourcefulness that would be invaluable.
When Dan was little I found the uncertainty difficult; we knew he would become visually impaired but we didn’t know when, we knew he would need a transplant but we didn’t know when. I wanted to know it would all be ok in the end. It was painful and difficult at times, but we got through it… You can rely on the clock to keep ticking and eventually it is over. The treats helped too! We had great fun with our caravan, we visited Legoland many times and Disneyland Paris thanks to Dreams Come True. We also threw caution to the wind and re-mortgaged to take the boys to Disneyworld Florida and to Egypt so Dan could fulfil his wish to see the tombs and pyramids.
So where are we now? Dan has endured much in his 18 years. There have been difficult, ignorant teachers, bullies, endless medical tests and interventions. He has had to cope with understanding the condition he was born with and the implications it holds for him and his future. But during this time, Dan has kept his identity. He isn’t defined by his weight, his vision or by BBS. He is a bright, funny young man who grew up on Disney, Dr Who, Star Wars, Lord of the Rings, Lego and computer games. He is developing an interest in politics, he loves Ancient History, Miranda, QI and comedians in general and he does not suffer fools gladly. Despite the many challenges, Dan has kept an eye on his future and has developed the drive to take him there. A failed sixth form placement gave him the determination to try boarding at the Royal National College for the Blind in Hereford where he is studying IT, Braille and Business. He is going to university in September to continue studying IT and we couldn’t be more proud of him.
Dan is not alone though. I have met many children, young people and adults who have BBS at conference and clinics over the years and their bravery, courage and determination in the face of disability and illness is inspiring. I have also seen so much achievement within our group, whatever the passion. We have successes in business, sport, in the workplace, (paid and voluntary), music, art as well as academic, there is a great deal that can be achieved. As a family, we were fortunate to learn this, early on at our first conference when Dan was just two years old, which gave us so much hope for the future. We met Steve Burge and shortly after, Graham Longly and Richard Zimbler and over the years more and more of you have shown us all what a great future our children can have.
We have come a long way since then and owe a debt of gratitude to so many. Thank you.