Laurence Moon Bardet Biedl Society
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LMBBS Laurence Moon Bardet Biedl Society |
For general enquiries and conference information please contact Chris Humphries on (01633) 664163 or by e-mail at: chris.humphreys4@ntlworld.com
For merchandise enquiries or enquiries regarding the LMBBS website, contact Julie Sales on (01892) 685311 or by e-mail at: Julie.kevin1@btinternet.com
For newsletter requests, please contact Tonia Hymers by e-mail at toniahymers@btinternet.com. Alternatively telephone your request to Chris Humphries and she will pass the details on.
For fundraising information or to join the Friends of the LMBBS please contact Anne Crotty on (01255) 507977 or by e-mail at anne_and_terry@yahoo.co.uk
The views and opinions expressed in this newsletter are those of the authors of the articles. They do not necessarily express the views and policy of LMBBS. Whilst every effort is made to check the accuracy of information reproduced, readers are advised to check with the original source before acting on it.
Welcome to the LMBBS Spring Newsletter 2008! This year is the Laurence-Moon-Bardet-Biedl Society’s 21st year and to mark the occasion, we are celebrating the Society’s achievements. Drina and Michael Parker were founder members of the Society and were the driving force behind it for many years, and we have them, and the other founder members to thank for the Society we have today.
Later, we will have a brief look at how it all began and also at what the Society has achieved over the years. The old saying, ‘from little acorns, big oak trees grow’ has never seemed more appropriate. Back in 1987, the first acorn was planted, and now just two decades on, we are a highly respected charity providing support to families and professionals, in the UK and across the globe. However, like most small charities, there seems to be an almost constant financial struggle to keep afloat. This issue is bursting with news of various fundraising ventures, and it is only through the efforts of all our wonderful supporters that we can keep going. Of course, jumping out of a plane, or wet and windy quad biking is not for everyone, and there are lots of other ideas, for those of you who would like to help.
Also, as promised, we have Siân Luscombe’s excellent talk from the family conference last year, called ‘Positive Parenting’. There are two personal profiles, both brilliantly written, one by James Humphreys and one by Allan Clarke, the dad of a newly diagnosed family. Finally, there is news of the LMBBS Family Conference 2008, bookings for which are being taken as we go to print. This event is becoming more popular every year, hardly surprising considering the calibre of speakers, and if you wish to attend, it is advisable to book soon. I look forward to seeing you there.
Tonia
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Good Luck Helen Helen May-Simera is taking part in a three day cycle ride from Bath to Paris to raise funds for the LMBB Society. She will be leaving Bath on Wednesday 2nd April and should arrive in Paris on the Friday afternoon. Sponsoring Helen couldn’t be easier, simply visit her page on the ‘Just Giving’ website (www.justgiving.com/lmbbsbikeride). We would like to take this opportunity to congratulate Helen on achieving her PhD. |
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Congratulations! Gemma Staples gave birth to a beautiful baby boy, Daniel, on 2nd December 2007, a Grandson for Bob and Jill. Our congratulations to all the family. |
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Andy and Caroline Beale, members of the conference childcare team had a beautiful baby boy in January 2008, a brother for Fraser. They have named him Marcus. Congratulations and best wishes to you all. |
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Congratulations and a big thank you to Lesley and Andy Castle, two of our lovely band of carers, who were married in August. They asked for donations instead of presents, and have given the Society £190, which also includes the proceeds of a sponsored silence held by their daughter, Chloe, who kept silent for 5 hours! |
“I am very sorry to have to let you know that My Dear Wife, Elaine, (Mops) lost her fight on Tuesday 8th January 2008 with the breast cancer. Elaine has fought since November 2003 and never gave up, never complained and never used it as an excuse. To all who knew Mops, she would always listen to everybody with their problems, never once did she turn anyone away and having spoken to her, they always felt better.
The shock and loss I feel at the moment is unbelievable and I am in a daze. One moment, I am deeply emotional and crying my eyes out and the next, I am laughing, as I think of all the memories I have. Elaine would not want people to be sad, she had a real zest for life and it showed in everything she did. Anyone who met my Mops, even just once, was captivated by her. Elaine’s beauty was not just skin deep, she was beautiful on the inside too and would do anything for anyone.”
On behalf of everyone involved with the LMBBS, we would like to extend our most sincere condolences to Andy and all the family. Elaine was a wonderfully brave lady and was such a friend to all who knew her. Elaine never asked for anything for herself, only that she could help those around her, and will be sorely missed by so many.
A personal perspective by James Humphreys
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’.
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Well done and a big ‘thank you’ to James for raising an amazing £700 with his parachute jump. What a star!
Siân Luscombe, Advisory Teacher for Behaviour, Newport Educational Psychology and Behaviour Support Service
Siân Luscombe attended the LMBBS Conference in 2007, to talk about the difficulties parents can face when trying to communicate with their children. She talked about the common traps we fall into, and gave ideas and support on how to achieve successful communication and improve the relationship. Siân’s fun slides and sense of humour put these difficulties into perspective and she began her talk by introducing three very different types of approach, which she jokingly referred to as the ‘good’ (assertive), the ‘bad’ (passive) and the ‘ugly’ (hostile); Siân started by demonstrating the ‘passive’ and ‘hostile’ approaches, both of which are a barrier to effective communication.
In her demonstration of the passive approach, Siân’s body language included avoidance of eye contact and physical closeness and demonstrated anxiety in movement and tone of voice. Her verbal communication was apologetic, confused and pleading. It was clear that this method was not going to achieve good results fast.
In the hostile approach, Siân’s body language included ‘eye-balling’, invasion of personal space, an angry, loud and demanding tone of voice and a red face. Verbal language included insults and put-downs, and unrealistic threats were made, without allowing for response or defense. Siân explained that the hostile reaction results in the body getting ready for ‘fight or flight’, which produces an increased heart rate and a general state of readiness which would take at least two hours to subside. Siân brilliantly demonstrated all aspects of this ‘ugly’ approach, and left the delegates in no doubt that this was not an effective means of communication, in fact it left Siân and the audience shaken.
Siân then went on to describe the most effective way of communicating – assertively – which should always start with the use of the child’s name.
Successful body language should include eye contact, reduced space between parent and child, use of gestures and touch and a quiet, calm voice. Verbal communication should begin with ’I’, and the required outcome should be expressed concisely and should be calmly repeated as necessary, without giving up, and without resorting to the passive or hostile approaches above.
Siân demonstrated how to keep on top of the situation using the re-focussing technique. This involves repeating the same line up to three times and Siân insisted that in most cases this calm repetitiveness does the trick. After three requests it is time to bring in a consequence which should be offered as a choice e.g. “Either you put your toys away or you choose for the T.V. to be turned off. It’s up to you.” Siân went on to talk about sanctions and rewards, which must be under the control of the parent.
Siân suggested that sanctions can range from a frown or removal of privileges to time out (one minute per year of age) or grounding. Sanctions should not be too harsh as small sanctions work best. Rewards can include things like smiles and hugs, outings and special treats, both in and out of the home; in particular, anything that involves the parent and child spending time together.
According to Siân, a common mistake made by many is the use of ‘negative handles’. A ‘negative handle’ is a negative addition to the end of a positive statement which completely ruins the impact and effect. For example ‘Well done for playing nicely with your brother…’ is positive praise until the ‘negative handle’ is added on which could be ‘…why can’t you be nicer more often…’ Negative labelling like this should always be avoided. Siân went on to suggest other ways of encouraging positive behaviour. She suggested that parents should say something nice to their child at least three times a day, and should try to “catch them being good”, thereby providing the opportunity for praise. It is also good for a child to ‘overhear’ their parent saying positive things about them to others. Siân brought her talk to a close with a list of top tips, and asked the mums and dads to try not to be so hard on themselves. She said that sometimes we just have to say to ourselves, ‘I am good enough!’.
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Richard Zimbler |
Myself and Jackie Farrington arrived at the Clarendon Suite at about 9 ish to set up for opening at 10 am. I went downstairs to check if the LMBBS leaflets had arrived and they had not so I was not a happy bunny! I had set up the backdrop on Monday afternoon, but this was day one and we had no leaflets to put on the table. Anyway, we still managed to deliver, telling those who came to the stand what we knew off the top of our heads!
Some back-up leaflets arrived with many thanks to Denise on day two at 11 am. We put the leaflets out as people were arriving! Insight Radio came round and asked if we would do a live interview for the station, which I did at 12:45 PM. This went out live on the net and I felt I did the Society proud. Busy Busy Busy, this was a better day than the day before.
Day three and guess what? The leaflets that Chris had sent out a week before had finally arrived late last night of day two! Oh well, better late than never!! I was still a bit fragile after Martini on the lawn the night before, and I really wished that whoever it was would stop playing with the lights in Hall D as it was getting on my nerves!! The number of people visiting the stand was up and down in the morning but levelled out in the afternoon! It was a good learning curve and I am looking forward to Sightvillage 2008
QAC Sight Village 15th, 16th, 17th July 2008
Each summer QAC organises QAC Sight Village at a venue in Birmingham. This is a premier European event showcasing technology, support and services for people who are blind or visually impaired. Exhibitors from throughout the world take part and many thousands of visitors are welcomed over the three day period. Admission is free. For further information log on to www.qac.ac.uk
As the Laurence-Moon-Bardet-Biedl Society enters it’s 21st year, it seems the ideal time to have a look back to its humble beginnings and to acknowledge the work of the LMBB Society.
The first meeting in 1987 was a pilot meeting held at Hethersett College together with the British Retinitus Pigmentosa Society (BRPS). The meeting was facilitated by a representative from ‘Contact A Family’ and there was just a handful of parents present. In 1988 a further meeting consisted of the group trying to form a committee to get the Society up and running, independent of BRPS, who wanted the LMBBS to become a BRPS branch.
Drina and Michael Parker and Chris and Dave Stoves, who were part of that early group, were determined that the LMBBS should be an entity in its own right and, in 1989, the first Conference style meeting was held at Hetherset College. It was attended by just 25 parents, 2 grandparents and a sister of someone with LMBBS. There were just two adults with the syndrome, 3 specialist speakers, a physiotherapist and a representative from Contact A Family. Today, the Society supports over 200 families and communicates with over 250 professionals involved in their care, and that early desire for independence is as important to the Society today, as it was then.
Over the years, the Society has produced leaflets aimed at promoting the welfare of those with LMBBS. ‘Introducing LMBBS’ and ‘The LMBBS Child at School’ were produced early on and have been updated and reprinted as needed. The Medical Booklet, produced a little later, was aimed at the medical profession and provides a more in-depth look at the syndrome. The latest publication is a leaflet about the Society itself, and can be used both to raise awareness of the Syndrome and also as a hand-out when fundraising. Soon to be available, are two leaflets containing updated information, which will eventually be incorporated into the medical booklet. The committee has been working with Professor Beales and in particular Ms Helen May-Simera to produce the two leaflets, which explain ‘genetic inheritance’ and ‘cilia’ research.
The Newsletters and Conference reports have always been an important aspect of the work of the Society and are intended to keep it’s members informed and supported, and hopefully, ease the feelings of isolation that can occur with such a rare syndrome. In addition, the leaflets are distributed at events such as ‘Sight Village’ in a bid to raise awareness amongst professionals and those who have the Syndrome, but who perhaps have never come across the Society. Our helpline is also a lifeline to many, especially for the newly diagnosed, and is a chance to talk to someone who understands.
The Annual Family Conference is also an excellent source of information and support, and attracts many emminent speakers from across the globe. The children and young adults benefit hugely from being part of a group where they are no different to anyone else. It is the excellent childcare team that makes the Conference such a ball for the youngsters, with many of the team now very experienced, having volunteered for several years. The ratio of child to carer is always planned with total inclusion, optimum safety and of course lots of fun for the children, in mind.
Around ten years ago, the Society, together with Professor Beales, produced and sent out questionnaires to all its members. Professor Beales used the information from this study to produce the main diagnostic criteria, which is now used world wide. In more recent years, members of the Society have had the opportunity to assist many medical professionals in their quest to understand more about this condition during Conference weekends. Professor Hammond took photographs, using special 3D face imaging, to see if face shape could assist in diagnosis and, more recently, Dr Daniel Jagger used questionnaires and hearing tests to study hearing in LMBBS, with ‘interesting’ results pending. Professor Beales outlined in his talk at Conference 2007, how awareness about the condition has been raised significantly over the past decade, and both he and other professionals consistently thank the members of the Society for their contribution.
The work of the Society is never more obvious or appreciated than when going through the horrors of diagnosis, however there are many times when a friendly ear or information and support are needed. Life changes are much harder to deal with when trying to cope with a condition like LMBBS and it is during those times that the helpline, Conference, leaflets and Newsletters come into their own.
The aims of the Society, according to its constitution are: to preserve and protect the health and promote the welfare of persons suffering from LMBBS, and to advance the education of the medical and educational professionals and the general public on the subject of LMBBS. It is the responsibility of the Committee to fulfill those aims and to keep the Society moving forward. Just like in the beginning, the committee is made up of those who have children/grandchildren with LMBBS and also those who have LMBBS themselves. They willingly give up their time to provide support, raise awareness, raise funds and generally do as much as they can to keep the LMBB Society moving forward, in the spirit of it’s humble beginnings.
It has been a busy year for those of you who have been raising money for the Society in 2007.
Some have been running: Well done! to Martin and Jo Cleary (the Paddock Wood Half Marathon), Alison Parry (the Edinburgh Marathon), and Dan Jagger and Helen May-Simera (the Henley Half Marathon); Danielle Sales and Robbie and Tonia Hymers have been walking; Bernie and Danny O’Sullivan have been cycling and the Gwent Police Choir have been singing!
Other fundraising events/activities included an X-Factor show held by Holly Sales and her friends Chloe and Alex, a Body Shop Coffee Morning held by Gill Townsend and Anne Crotty, an 80s Disco held by Claire Gilman and Karen Masters and a Charity Quiz Night, Raffle and Auction held by Julie Evans and Tim Hughes .
We do not have enough space to acknowledge everyone by name, but our grateful thanks go to every one of you who has helped raise much needed funds for the Society. With respect to Corporate Donations, our many thanks go to the Kirby Group for their generous support over the years.
I have spent many hours applying for grants this year; a lengthy time consuming process as each application has to be tailored to meet specific requirements. We have, so far, received only one positive response, which was a grant of £2,000 from the Coventry Building Society. Julie and Kevin Sales were chatting to a gentleman, Colin, at their friend’s birthday party, who happened to work for the Coventry Building Society. After hearing about LMBBS, Colin asked for their details and later sent an application form. A month later we heard we had been successful and Julie and Kevin attended a presentation to receive the cheque. Our thanks go to Colin and of course the Coventry Building Society for their generosity.
In my search for funding, I have found that most trusts or companies prefer to give to local projects and the needs of our small, national charity don’t usually fit their criteria. The ‘Charity of the Year’ scheme seems to be a favoured method of company giving and larger companies often match the fundraising efforts of their employees. Our Society has benefited enormously over the years from the matched fundraising efforts of the staff of Barclays Bank and also of Lloyds TSB. Those of you who work for companies large or small might find that you can double your fundraising efforts with matched funding from the company. Alternatively, you could nominate LMBBS as the ‘Charity of the Year’ and I would be happy to supply leaflets, newsletters, etc to back up your nomination.
It is plain to see that we cannot rely on grants to raise the funds that our Society needs, and it is important that we remain free from subscription fees. What we really need is for everyone to try and think of some small way in which they can help the Society. Tried and tested ideas which work well with little effort include coffee mornings, perhaps with a ‘bring and buy’ table, sponsored events or even just asking your local shop to display a collection box. With a membership list of over 300, we would each only need to raise £10 to bring the Society over £3000! Alternatively, if you all encouraged just one person to join the Weather Lottery, that would bring the Society over £5000 A YEAR. (Link to Weather Lottery from LMBBS website.)
Our loyal band of ‘Friends’ bring the Society around £3,000 a year which is increased by claiming Gift Aid on their contributions. If you would you like to become a ‘Friend’ of the Society, contact details are below. It is also possible to donate money to the Society via the ‘Justgiving’ website (www.justgiving.com ) Tell your friends about it.
Unfortunately, from April this year, due to changes in Income Tax, the amount we are able to claim in Gift Aid will be reduced. However, this is still an excellent means of funding for the Society and those of you who are tax payers can benefit the Society in this way. If you are obtaining sponsorship, please make sure your sponsor form has ‘gift aid’ incorporated into it. If you are sponsoring someone or wish to make a donation, please make sure we have a declaration form completed so that we can claim the Gift Aid and enhance your gift to the Society.
If you need any information regarding the above, or would like support or help with a fundraising venture, please contact me and I will be glad to help. Once more, a huge ’thank you’ to all those of you who have donated, sponsored or raised funds in any way for the LMBBS, some in memory of loved ones, the Society relies almost entirely on your generous support. Thank you.
Anne Crotty
13 The Vineway, Dovercourt, Harwich, Essex, CO12 4AX
01255 507977
anne_and_terry@yahoo.co.uk
Body Shop Fundraiser
Anne Crotty, together with her sister, Gill, organised a Body Shop/Coffee morning in November, to combine a little Christmas shopping with some fundraising. The combination of trying out all the gorgeous Body Shop products and sampling the heavenly home-made cakes made it a morning to remember. The way it works is that instead of the discounts and rewards going to the host of the party, a percentage of sales goes to the charity, so the more people spend, the more money is raised. Nicola from The Body Shop, held a small raffle and donated the proceeds, and Anne and Gill also held a raffle. A pot was placed amongst the cakes for donations, and altogether £125 was raised which is a huge amount for a coffee morning fundraiser. More importantly, everyone had a great time and are already anticipating the next event.
Intrepid Fundraisers
Suzanne Hardy-Smith and her colleagues from Barclays Bank, formed a team and decided to undertake a huge challenge, in memory of Suzanne’s brother, Graham. Their challenge was to climb the 4 highest peaks in Wales, over a two day period. The weather was sunny at ground level but at 3,000 feet up the elements came into full force. The team witnessed one experienced climber who had literally been blown off the side of the mountain, thankfully only slightly grazed, which certainly brought their challenge to life. The team raised an incredible £1,744, which was boosted by £750 from the Barclays Community Programme, bringing the total raised to just under £2,500. Our huge thanks go to Suzanne and the team for their courageous effort, and to Barclays for their added support.
Thanks Nev!
Nevelle Bower, an old friend of the Hymers family and a good friend to the Society has very generously donated £563. Nevelle is a keen traveller and has visited many countries either through business or pleasure, and has become a talented photographer in the process. A recent expedition took him to Cambodia, where he took some amazing photographs. Nevelle works in the photographic paper industry, and the company he was working for, Felix Schoeller jr, Germany, were so impressed by his images that they bought them to use at trade shows to demonstrate the quality of their paper! They also bought photos taken in Barcelona, Rome and Amsterdam. Nevelle decided it was a great way of raising funds for the Society and donated every penny.
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.
Allan Clark
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LMBBS Merchandise From April 2008, we will also have a selection of LMBBS teddies, umbrellas, and eco-bags. Details can be found on our webpage, www.lmbbs.org.uk nearer the time. If you are interested in purchasing any of our items, please contact Julie Sales on 01892 685311 or e-mail kevin.julie1@btinternet.com |
This year’s LMBBS Conference promises to be first class, with an excellent line up speakers and facilitators.
As well as our very own Professor Philip Beales, who will be giving us an update on research into the syndrome, we are fortunate to welcome back for the third time Richard Alan Lewis M.D., Ophthalmic Genetics Professor of Ophthalmology Medicine, Paediatrics, Molecular and Human Genetics, from Baylor College of Medicine in Houston, Texas.
From Freiburg in Germany, we will be welcoming Heymut Omran, Professor of Pediatrics and Vice Head of the Department for Paediatric Neurology. Professor Omran will be speaking about ‘cilia’ related disorders.
Dr Barbara Cadge, Dr Dan Jagger and Helen May-Simera will return and update us on their audiology research, and of course there will be the popular ‘Personal Perspectives’ and the Annual General Meeting of the Society. The afternoon will comprise of workshops and an open forum, giving everyone an opportunity to put questions to our distinguished speakers. There will also be opportunities to talk to representatives from RNIB, Weight Watchers and Slimming World and, as in previous years, there will also be the opportunity to obtain confidential advice regarding benefits.
On the Friday evening, there will be a ‘hands on demonstration’ of the African drums and an ‘Aikido’ display. Alternatively, Graham Longly will be answering questions on ‘Living with the Syndrome’, or you may wish to visit the I.T. Room. For the more energetic, the gym and pool are available, or you may wish to just relax and book a massage.
On the Saturday, the children, young adults and Carers will make their usual trip to Drayton Manor Theme Park, allowing the adults to enjoy the conference safe in the knowledge that their children are being expertly cared for. In the evening, activities for the youngsters include Karaoke, X Factor, Snooker, table football and arts and crafts with their Carers. The children are returned to their families at 9pm, just in time for the Family Quiz Night, which has proved hugely popular and entertaining in recent years.
If you would like more details of this weekend event, please contact Chris Humphreys on 01633 714815 or e-mail chris.humphreys4@ntlworld.com
We very much hope you have enjoyed this newsletter, if you need to contact the LMBB Society, don’t forget the telephone numbers are listed at the beginning.
For general enquiries and conference information please contact Chris Humphries on (01633) 664163 or by e-mail at: chris.humphreys4@ntlworld.com
For merchandise enquiries or enquiries regarding the LMBBS website, contact Julie Sales on (01892) 685311 or by e-mail at: Julie.kevin1@btinternet.com
For newsletter requests, please contact Tonia Hymers by e-mail at toniahymers@btinternet.com. Alternatively telephone your request to Chris Humphries and she will pass the details on.
For fundraising information or to join the Friends of the LMBBS please contact Anne Crotty on (01255) 507977 or by e-mail at anne_and_terry@yahoo.co.uk
The views and opinions expressed in this newsletter are those of the authors of the articles. They do not necessarily express the views and policy of LMBBS. Whilst every effort is made to check the accuracy of information reproduced, readers are advised to check with the original source before acting on it.