Welcome

to the

LMBBS Family Conference 2013

Hilton Hotel, Northampton 19th- 21st April 2013

Contents

Weekend Programme of Events

Saturday Conference Programme

Weekend Menus

Information for Parents

Speaker Profiles

LMBBS Annual General Meeting Agenda

Minutes of the Last Annual General Meeting

Delegates and Families at Conference

Evaluation Form

Weekend Programme of Events

Friday From 3:00pm Arrival and registration in Reception. If you wish to avail yourself of a

late departure on Sunday, please make the necessary arrangements with Reception on arrival.

Free time to socialise or, for the more energetic, a visit to the pool or gym

5:00pm Water Aerobics - all ages welcome! 5:00pm Supervised Gym Session – 16yrs and over. 6pm to 8pm Evening meal (rolling service) will be served in Season’s Restaurant. 8:00pm Families meet Drayton Manor/Bowling Care Team in Collingtree 1 8:00pm Families meet Creche Care Team in Spencer Room 8:30pm Welcome reception for new families in Spencer Room 8:30pm Welcome reception for BBS affected adults in hotel lobby 8:30pm Carer’s meeting in Collingtree 2 The evening is then yours to enjoy; the following activities/displays will be available throughout the evening/weekend: • Kids Activities: A selection of kid’s activities will be available in the Isham Room on Friday

evening and the Spencer Room on Saturday evening.

• Sarah Flack, Principal Dietician and Kathryn Sparks, Clinical Nurse Specialist, both from Great Ormond Street Hospital and members of the BBS Clinics team will be in Reception for a Food Tasting session on Friday evening for children and in a workshop on Saturday for conference delegates.

• Ray Perry will be available to discuss Benefits in Meeting Room 1 throughout the weekend for

private, group or workshop discussions. Please speak to Ray or a member of the committee to arrange a time.

• Sue King, Rehabilitation Officer for Gloucestershire Social Services will have a display of visual

aids in Reception Friday evening.

• There will be an array of LMBBS Merchandise, Booklets and information available in Reception throughout the weekend. There will also be a tombola and raffle tickets available.

• Royal National College for the Blind will have an information stand in Reception.

Saturday

7:15am-9:00am Breakfast in Seasons Restaurant (please note there will be an

additional serving point in Reception)

9:00am Carers and those going to Drayton Manor assemble in Foyer.

9:15am Coaches depart.

9:15am Crèche opens in Spencer Room 9:30am Saturday Conference Programme Collingtree (see separate schedule) 10:15am Ten Pin Bowling trip - all to meet in the FOYER 2:15pm Carers and young adults return from Ten Pin Bowling 4:45pm Crèche closes – please collect your child promptly. 5:30pm Children and carers return from Drayton Manor 6:00pm-8:00pm Evening meal (rolling service) priority for carers, children and young

adults participating in evening activities, served in Seasons Restaurant. Parents are asked to supervise their children for this meal, allowing the Carers to have a much needed break.

7:30pm Evening activities for children/young adults Crafts, games, table football and snooker etc in Spencer Room. Music Jamming Session in Lowther Room. 9:00pm Supervised activities for children/young adults end. Parents are

asked to take responsibility for their children please. 9:30pm Famous Family Quiz in Collingtree with our resident quiz master

Dennis Clark, followed by the Grand Raffle. Sunday 7:30am-10:30am Breakfast in Seasons Restaurant. Free time to use the facilities of the Hotel, such as the gym or the swimming pool, before your departure. Thank you for attending. We hope you have enjoyed your weekend and look forward to seeing you again next year. The date for your diary is 25th/26th/27th April 2014. We wish you a safe journey home.

Saturday Conference Programme

8:30am Registration and refreshments in lobby for day delegates

9:15am Conference opens in Collingtree 9:30am Welcome and Introduction to the Day

Professor Philip Beales Professor of Medical and Molecular Genetics Wellcome Trust Senior Research Fellow in Clinical Science Honorary Consultant in Clinical Genetics President of the LMBB Society

9:35am LMBBS Annual General Meeting 10:00am Update on Research and Study of LMBBS

Professor Philip Beales 10:30am Uncovering the Emotional Needs of the BBS Population: observations and interventions

Annika Lindberg BBS Counselling Psychologist, Guys Hospital, London

11:00am Refreshments: Collingtree 2 and Business Corridor 11:20am Dietary Update: 3 years in BBS Clinics Sarah Flack Principal Dietician, Great Ormond Street Hospital, London 11:40am Transition: growing up with a health condition Marie McGee Transition Co-ordinator, BCH Paediatrics & QEH, Birmingham

12:10pm Achieving International Cricket Hannah Young Personal Perspective 12:30pm-1.45pm Lunch in Seasons Restaurant and Lobby

Workshops

1:50pm: 2:20pm / 2:25pm: 2:55pm / 3pm: 3.30pm (Maximum of 30 in each session, first come basis)

Informal Q & A Professor Phil Beales Professor Tim Barrett Dr Shelah Mohammed Dr Torsten Baldeweg Collingtree

Food Tasting: Compare and Contrast (Sessions 1 and 2 only) Drop in & Share Ideas (Session 3 only) Sarah Flack, Dietician Brudenell Room

Clinical Psychologist Annika Lindberg Collingtree 2

Benefits Information and Support

Ray Perry Meeting Room 1

Supporting Young People through Transition Marie McGee Watson Room

David Head

CEO Retinitis Pigmentosa Society Meeting room 2

Parents Supporting Parents: Information and Chat Laura Dowswell & Claire Anstee Lowther Room

Royal National College for the Blind Lobby

3.40pm Return to Collingtree 3.45pm Shane Ryan Paralympic Rower, Shane Ryan talks about his Olympic experience.

4:15pm Dr Torsten Baldeweg Update on Memory Test Study

4:45pm Closing Remarks

Thank you for attending. We hope you have enjoyed your day and look forward to seeing you all again next year; the date for your diary 25th/26th/27th April 2014.

We wish you a safe journey home

Session 1: Male Session 2: Female Session 3: Mixed

Information for Parents General Julie Sales is co-ordinating the childcare arrangements for the children going on the outing to Drayton Manor Park or Bowling. Tonia Hymers is organising the crèche for those remaining at the hotel. If, after reading the following information, you have any questions about childcare arrangements they can be contacted as follows: - Julie: 01892 685311 or 07773 252585 (mobile) or email: kevin.julie1@btinternet.com Tonia: 07805 685342 or email: toniahymers@btinternet.com All members of the childcare team will have a copy of an information sheet giving details of each child in their care. Please make sure you have completed and returned an information sheet for each of your children. This ensures that the best possible attention can be given to your child’s/children’s needs. There is a meeting at 8pm on Friday evening for you and your child/young adult to meet the care team who will be looking after your child/young adult on Saturday. The care team for the Drayton Manor Trip or Bowling will be in Collingtree 2 and the Creche Team will be in the Spencer room. Day Crèche 9.15am - Please take your child/children to the Spencer Room where the care team will be waiting to meet you. Please register at Conference Reception first if you are attending on Saturday only. Please discuss any special requirements with the carers. Carers will advise immediately if a problem arises. Squash, juice, biscuits and lunch will be available. Please provide baby foods and other drinks if you prefer labelled with your child’s name. It may be helpful to leave a buggy and a change of clothes in the crèche. Toys will be provided but should you wish to leave any special toys, please make sure they are also labelled. The crèche will close at end of Conference (appx. 4.45 pm). In fairness to the volunteer carers in the crèche, please collect your child/children punctually, so they may prepare the room for the evening activities.

Outing to Drayton Manor Park 8.55 – 9.00am - Take your child/children to Reception to meet their carer who will take them to the coach for a prompt 9.15 am departure. Please take this opportunity to discuss any special requirements with your child’s carer. As there are snack bars, ice-cream kiosks and gift shops at Drayton Manor Park, you may wish to give your child some spending money (we suggest no more than £6 per child). You may give this to your child’s carer if you choose, preferably in a purse marked with your child’s name. Please supply outdoor clothing marked with your child’s name (light waterproof clothing is particularly recommended for those intending to venture on the wet rides at Drayton Manor Park!) Since the group will be subject to the vagaries of British weather, it is advisable to pack warm clothing. If we are lucky to have a hot day, please supply suncream. Lunch and drinks will be provided, if you prefer to provide your own food, please put it in a container marked with your child’s name and give it to his/her carer. Ever safety-conscious, LMBBS has booked a coach with seat belts for the journey to Drayton Manor Park. The coach will arrive back at the hotel at approximately 5.30pm. Please be waiting in Reception to collect your child/children. Outing to Ten Pin Bowling 10.15 am – All those going bowling should meet in Reception, ready for a 10.30am departure. Seat belts to be worn at all times during transfer to and from the bowling complex. LMBBS have booked 2 games of bowling, with lunch included. We estimate the coach will arrive back at the Hilton hotel at approx 2.30pm. The remainder of the afternoon is free for relaxation in the hotel, or use can be made of the hotel gym or swimming pool. If assistance is required before and after bowling, please make the necessary arrangements with a member of the care team. Evening Activities There will be supervised evening activities available for all children from 7.30pm including arts and crafts, pool tables, table football and a guitar and musical jamming session for budding musicians; your child is welcome to bring along an instrument to join in the fun. Please check the weekend programme for ‘where and when’. In fairness to our volunteer carers please collect your child promptly at 9.00pm. Dinner will be in Seasons Restaurant from 6.30pm till 8.30pm. At around 9.15pm we will have our family quiz and Raffle in the reception area. Please note that children are the responsibility of parents when not with carers for activities. Please do not allow children to run in the reception area, or down the hotel corridors.

Sunday This is free time for families and carers alike. Breakfast will be provided in the restaurant and then there will be time to enjoy the excellent facilities (including gym and swimming pool) the hotel has to offer. The Hilton have a late checking out time of 5pm, if you wish to avail yourself of this, please make arrangements with Reception as soon as possible. Please settle your own additional expenses e.g. bar bills, room service and charges for telephone calls made from your room

LMBBS CONFERENCE MENU

FRIDAY

Seasons Restaurant from 6pm-8pm

Children’s Menu (Children may order from the adults menu: orders

taken at table)

Crudites & Nachos with fresh dips Garlic Bread

Mild Chicken Curry with Poppadom

Fresh Cheese & Tomato Pizza Fish fingers

Bangers & Mash

Served with choice of potatoes or rice Salad or vegetables (peas/sweetcorn/carrots)

Choice of Yoghurts/Ice Cream/Jelly

Fruit salad at buffet bar

Jugs of Orange Squash & Blackcurrant

Adult Menu

Pea and Ham Soup with Herb Croutons Prawn Cocktail

Chilled Melon with a Red Fruit Compote

Supreme of Chicken with a Mushroom Cream Sauce Steamed Salmon Supreme with Watercress Sauce Vegetable Korma with Basmati Rice and Popadoms

French Beans

Cauliflower Cheese Boiled Rice

New Potatoes

Black Forest Gateau Lemon Cheesecake

Raspberry Torte Fresh Fruit Basket

Cheese and Biscuits

Coffee & Mints – served at table

SATURDAY LUNCH

Dressed Yorkshire Ham with Pineapple Tarts

Dressed Norfolk Turkey with Fresh Asparagus and Cranberry Tarts

Dressed Scottish Salmon with Dill Mayonnaise

Vegetable Terrines

Hand Raised Pies

Baked Jacket Potatoes

Saffron Rice with Mixed Peppers

Penne Pasta with Tomato and Pesto Oil

Potato Salad with Horseradish Mayonnaise

Seasonal leaves

Celery Apple Raisin Coleslaw

Five Bean Salad with Tomato and Chilli Sauce

Alternative hot option of:

Lasagne

Chicken Pasta in Creamy Sauce

Fresh Vegetables

Dessert

Profiteroles

Fresh fruit salad

Strawberry Cheesecake

Tea/coffee/Iced Water

SATURDAY EVENING MEAL

Seasons Restaurant from 6.00pm till 8.30pm

Children’s Menu

(Children may eat from adult menu: orders taken at table)

Chicken Nuggets with Oven baked wedges

Jacket Potato and choice of toppings: (Tuna Mayo/Baked Beans/Cheese/Prawn Mayo)

Spaghetti Bolognaise Chicken Fillet Burger

Mixed Salad at Buffet Bar

Choice of Yoghurts/Ice Cream

Fruit salad at buffet bar

Adult’s Menu

Roast Beef with Yorkshire Pudding Pork Loin Steaks with Creamed Leeks

Filo Parcel filled with Stir Fried Vegetables and Sweet Chilli

with Spinach and Mushroom Sauce

Broccoli Floret Glazed Carrots with Snow Peas

Boiled Rice Saute Potatoes

Chocolate Fudge Cake

Fresh Fruit Flan Lemon Meringue Pie

Cheese & Biscuits (Ice Cream available on request)

Coffee & Mints

Conference Profiles

Speakers and Workshop Facilitators Professor Philip Beales Institute of Child Health, Great Ormond Street Hospital Professor Beales obtained his degrees in Genetics and Medicine from University College London. He undertook postgraduate training in both general medicine and paediatrics before specialising in Clinical Genetics. In 1999, he published the largest survey of LMBBS problems with the help of members of the Society. This culminated in the identification of a number of new features not previously described in the medical literature and has helped Professor Beales to propose new diagnostic criteria, with the expressed purpose of enabling an earlier diagnosis in many children. In 1999, Professor Beales spent over a year at Baylor College of Medicine in Houston, where, together with Nico Katsanis, Richard Lewis and Jim Lupski, they discovered the first gene (BBS6) to cause LMBBS. Since then, at least 16 genes are now linked to the syndrome.

Professor Beales now works jointly as a Consultant Clinical Geneticist at Guys Hospital and the Institute of Child Health/Great Ormond Street Hospital and runs a laboratory research group at the latter. Together with collaborators from Europe and North America, his group have made major advances in our understanding of the causes of the syndrome. This includes the notion

that abnormally functioning cilia (small finger-like appendages on cells) lies at the heart of LMBBS. The challenges that lie ahead involve understanding how dysfunctioning cilia contribute to various syndrome aspects. These discoveries bring closer the ultimate goal for the design of potential treatments to prevent further visual deterioration or weight gain. Professor Beales has been medical advisor to the LMBBS Society since 1996 and was made President of the Society in 2005. In 2010, he established, with the help of the Society, National Multi-disciplinary Clinics, with a comprehensive genetic testing platform for all persons with LMBBS in England and Scotland. Dr Torsten Baldeweg Researcher University College London & Institute of Child Health Dr Baldeweg is a researcher based at University College London and the Institute of Child Health, specialising in studying the response of the developing brain to neurological insults (plasticity) especially to epilepsy and hypoxia-ischemia. In collaboration with many clinical and academic colleagues he also works to improve diagnostic neuroimaging procedures for children who undergo neurosurgery. Follow-up studies are undertaken in children who have undergone such treatment, with the aim of improving their cognitive outcome. Sarah Flack Principal Dietitian Great Ormond Street Hospital for Children NHS Trust Sarah has worked at Great Ormond Street Hospital for 15 years and covered a wide variety of clinical areas during this time. Prior to maternity leave three years ago Sarah specialised in looking after children with kidney problems and in this role saw children with BBS. Sarah now works part time and is really enjoying her role in the multidisciplinary BBS clinics. Sarah has two children (aged three and seven) which have offered new insights into the challenges of providing a healthy, balanced diet in practice! Annika Lindberg Chartered Counselling Psychologist Guy’s and St Thomas’s hospital Annika is a Chartered Counselling Psychologist, registered with the Health Professions council (HPC) and with the British Psychological Society (BPS). Since qualifying as a Psychologist in 2004 she has been working and conducting research within the area of problem gambling. She spent a few years in Las Vegas working with Gambling addictions and then resumed her work at the National Problem Gambling clinic in London. She has also been working with physical health, Community mental health at the Royal Free hospital. She currently works for Guys & St Thomas Hospital Occupational Health Department where she is setting up and running a Cognitive Behavioural Therapy (CBT) Service for staff from the hospital and also has an engagement with Genetics at Guys Hospital – the Bardet-Biedl-Syndrome clinic. Having been part of the BBS clinic for exactly one year she has assessed many individuals attending the Guy’s hospital clinic and has provided referrals to local psychological services. She still works one day per week for the National Problem Gambling clinic where she runs a club for homeless gamblers. Other experiences include working privately with food addictions, obesity, cancer and families affected by autism.

Marie McGee Transition Co-ordinator Birmingham Children’s Hospital Marie is the Transition Care Co-ordinator for the Rare Diabetes Team at Birmingham Children’s Hospital NHS Trust. She is one of a few individuals in the UK who has been specifically appointed to develop transitional care for young people with long term health conditions. Marie has a remit to support the adolescent rare diabetes programme and also to facilitate the transfer of individual young people to adult services. Working with families she supports the development of young people’s knowledge and skills with their healthcare. She also has an extensive background with over 23 years experience working in primary schools across inner city localities in Birmingham, UK. She developed and coordinated the mentoring strand across 15 primary schools and her innovative approach was recognised with a Teaching Award which highlights excellence and encourages best practice. She also runs a Mentoring Consultancy, providing training and advice to professionals and families across a range of areas including developing family skills and managing behaviour problems. Professor Timothy Barrett Birmingham Children’s Hospital Tim Barrett trained in London, Exeter and Birmingham and did his Phd in genetics of rare diabetes syndromes. He works half time as a paediatric endocrinologist in Birmingham Children's Hospital, and leads the rare diabetes services including the Bardet Biedl service. The other half of his time he spends leading a laboratory research team studying the genetics of rare diabetes syndromes and leading a clinical team undertaking clinical trials in children with diabetes. In 2010 he successfully gained a European grant to set up an international register for Wolfram, Alstrom and Bardet Biedl syndromes. The aim is to create a critical mass of affected people across Europe, who are interested in participating in future clinical trials for new treatments for these diseases. David Head Chief Executive of RP Fighting Blindness David Head is Chief Executive of RP Fighting Blindness, a medical research charity working to find a cure for treatment for Retinitis Pigmentosa. The charity funds projects in several centres across the UK investigating the use of stem cells, gene therapy and pharmaceuticals as potential treatments. David has worked for the charity for 6 years and over even that short period significant advances have been made along various research threads. In this session David will give a short presentation about current projects and then run a Q & A session. Questions he cannot answer he will refer to an appropriate RP Scientist for individual response RP Fighting Blindness also provides a national helpline and information about RP. www.rpfightingblindness.org.uk

Kathryn Sparks BBS Clinical Nurse Specialist Great Ormond Street Hospital for Children NHS Trust Kathryn has worked as a children’s nurse at Great Ormond Street Hospital for over ten years and has gained experience in various fields during that time. She joined the BBS team in September 2010 and has a keen interest in looking into ways in which bloods are taken from children, especially as blood tests are a fundamental way of monitoring a person’s condition. Her aim is to minimize any trauma the child feels and to alleviate pain during the procedure, so that the next time blood tests are needed, the child doesn’t feel scared, or as scared. This role also involves providing support for patients and families and liaising with other multi-disciplinary teams involved with the care of those affected, both within GOSH and in the community. Sue King Rehabilitation Worker Guide Dogs for the Blind Association After qualifying as a Rehabilitation Worker with Visually Impaired People in 1996, Sue worked for the Guide Dogs for the Blind Association (GDBA), offering full Rehabilitation services, including Mobility, Independent Living Skills and Communication Skills, to GDBA clients across the South West Region. From 1997 to 2004, Sue worked with voluntary and statutory organisations, providing assessment and rehabilitation services to visually impaired people in South Wales and the Bristol area. Sue is now working for Gloucestershire County Council, providing Rehabilitation training across the county. Sue will be displaying a range of equipment designed for use by Visually Impaired People, including Daily Living Aids, Communication Aids and Mobility Aid Ray Perry Area Benefits Officer Kent County Council Ray Perry is an Area Benefits Officer with Kent County Council Social Services Department, based in Tonbridge, and has over 25 years’ experience, giving advice and training on Social Security Benefits. He is a member of the National Association of Welfare Rights Officers (NAWARA) and the London Welfare Rights Officer Group (LWROG). He has a particular interest in LMBBS and has already successfully taken many LMBBS and registered-blind cases to appeal. Ray can provide LMBBS members with a benefits check to ensure that their benefits are being maximised. He is also able to offer advice on procedures and tactics if you are considering taking a case to appeal.

Hannah Young Hannah is 27 years old, married to Sean and has LMBBS. “I have always been interested in sports, but when I was diagnosed with LMBBS I thought my love of being involved in sport was over, but it was not the case as I was invited and accepted to play in Blind cricket for Berkshire Stags and International Cricket. Involvement with sport, particularly cricket has changed my life. I have been fortunate to have been able to travel to many different places and meet many new people who have now become friends. I will be here for the weekend, please look for me and have a chat for any further information.” Shane Ryan “I attended my first LMBBS Family Conference in 1994, where I met other families and children and who had similar experiences as me. During my years in secondary school I participated in all extracurricular activities including PE, games and undertook the optional Transition Year programme in which I participated in the school musical, went on a trip to Lake Garda and learned to swim as a personal challenge as part of the President’s Gaisce Awards Programme. Through the Irish Blind Sports I went on two skiing trips and was able to go away for water skiing weekends (all without parents, which made them even better). It was around this time that the NCBI contacted me and asked if I would be interested in trying Adaptive Rowing, where the boat is adapted to the individual’s disability; it was also based in Limerick. I won the Irish Indoor and British Indoor Rowing (BIRC) titles and also came second in the European Indoor Rowing Competition held in Rome. During the years in the run up to the Paralympic Games, the crew competed in Adaptive Regattas, World Cups and World Championships in countries such as Italy, Germany, New Zealand and Slovenia. Competing in the World Championships in Bled in Slovenia in September 2011, the Irish crew qualified for the Paralympic Games. I will talk about my Paralympic experience in the conference. Please come and talk to me at any time during the weekend.” Claire Anstee New Families Contact/ Parents Supporting Parents Workshop I’m Claire, married to Jason for 14 years and we have three children, James is 15, Emmy is 10 and Holly is 7. We live in a village in Northamptonshire; I enjoy writing, reading and spending time with our family and friends, holidays on the coast and walks around our local reservoir. Just as Emmy was being diagnosed we contacted the Society, the support we gained was amazing and made a huge difference to us. Even though Emmy wasn’t formally diagnosed, Jason and I went along to our first conference, talking with Chris, Tonia and Julie that first evening and listening to their experiences was like putting the last pieces of the jigsaw together. We’ve been every year since and decided very quickly that we needed to give support to the Society as they had for us. We have held two fundraising walks so far and I now provide support as the New Families support contact via email/phone as well as at conference in the New Families meeting. Holding a workshop is new to both Laura and I but we hope to offer a friendly ear of support and provide information that may be useful and give positive experiences in what can be a worrying and daunting time. I am very much looking forward to seeing old friends and making new ones at conference.

Laura Dowswell Parents Supporting Parents Workshop I’m Laura, married for 22 years to the ever patient and laid back Nick and we have two children – well they’re not really children anymore! Maria is 19 and Greg is 17. We live right by the sea at The Witterings on the south coast and enjoy summer days out on the sea on our boat and in the winter long beach walks with our much loved old dog. We became involved with the society after Maria was diagnosed with BBS at age 14 and we attended our first conference 4 years ago. We were amazed by the amount of support and information we got and the lovely – hopefully lifelong – friends we made. As a family, and of course BBS does affect the whole family, we were determined to ‘give something back’ and I now provide support to families at the London clinics as well as at the annual conference. I look forward to meeting all our new families and conference first timers as well as seeing lots of old friends. Committee Nominees Steve Burge Trustee Diagnosed with LMBBS at the age of 11, Steve is one of those people who has never let LMBBS get in the way of living life to the full. Steve was educated at both main stream and specialist schools and feels that a mixture of the two helped him gain success, achieving 7 GCSEs. At the age of 21, Steve lost the remainder of his useable vision, which was the start of some very challenging times for both him and his family. Steve has never been ‘afraid of getting back on the horse’ and decided to go to the Royal National College for the Blind (RNC) in Hereford, to study music technology, developing further his love of music. This became a journey that led to him becoming a professional session drummer and sound engineer, both in music and radio. Steve attended his first family conference in 1997 at which he spoke about his experiences for the first time; he was also elected on to the committee at this time and has served as a Trustee on and off for fifteen years. Over the years, Steve has spent a lot of time with new families and adults affected with LMBBS at conference and more recently, by supporting them at the adult clinics at Guys Hospital as well. Steve is passionate about ensuring that the families who are affected by LMBBS can see that they can achieve whatever they want, if the put their mind to it! Steve is currently teaching drums for ‘Mind’ and is also the Programme Controller for Redstone FM, a not for profit company set up to give realistic broadcasting opportunities to visually impaired adults, wanting to develop a career in the radio broadcasting industry. Steve is standing for the position of Vice-Chairman at the LMBBS AGM 2013.

Allan Clark Trustee Allan Clark has been a committee member since 2009. Allan works for Macmillan Cancer Support in Scotland and manages the Macmillan Carers Services for his local council, supporting those affected by cancer. He is also a Committee Member of the Dunbartonshire Disability Sports Club and is an active member of the Dumbarton District Disabled Children’s Forum. He has campaigned for GIG in Scotland and recently attended the Rare Disease Day Event at the Scottish Parliament on behalf of LMBBS. Allan is a keen walker and completed the West Highland Way in 2011 on behalf of the Society. He has three children Callan 11, Luca 9 and Jorja 6 with his wife Jacqueline and both his sons have LMBBS. Allan is standing for the position of Vice-Chairman at the LMBBS AGM 2013.

Annual General Meeting The Hilton Hotel, Northampton 20th April 2013

Agenda

Minutes of 2012 AGM Election of Honorary Officers Of the current Officers, (Phil Humphreys, Chairman; Terry Crotty, Vice-Chairman; Kevin Sales, Treasurer; Julie Sales, Secretary; Conference & National Co-ordinator, Chris Humphreys; Fundraising Co-ordinator, Anne Crotty; and Newsletter Editor, Tonia Hymers) Terry Crotty and Anne Crotty are retiring this year and we thank them for their valuable contribution. Nominations are invited for these positions; nominees must have previous experience on the LMBBS Committee or in a similar role on another committee. All remaining Officers are eligible and have agreed to stand for re-election. Election of Committee Of the current Committee members (Richard Zimbler, Emma Oates, Steve Burge and Allan Clark), Steve Burge and Allan Clark are due to retire this year, however they both wish to stand for re-election. Richard Zimbler is retiring this year and we thank him for his valuable contribution; nominations are invited for these positions. Chairman’s Report The Chairman will present the Laurence-Moon-Bardet-Biedl Society’s Annual Report. Treasurer’s Report The Treasurer will present an overview of the Society’s accounts. Appointment of Auditor Any Other Business

Minutes of the Annual General Meeting 2012 The Hilton Hotel, Northampton

Saturday 21st April 2012 Minutes of previous Annual General Meeting The Minutes of the Annual General Meeting on Saturday 16th April 2011, previously circulated, were agreed and signed. Apologies for Absence Apologies for absence were received from James Moran, Chief Executive of the Bradbury Centre in Liverpool, the Stone family, Jonny and Sharon Fegan, Graham Longly, Beverley Barrass, Adele and Alan Fricker; Michelle and Terry Begley and Shehnaaz Jinwalla Election of Officers The current officers, Phil Humphreys (Chairman), Terry Crotty (Vice Chairman), Julie Sales (Secretary), Kevin Sales (Treasurer), Chris Humphreys (Conference and National Co-ordinator), Anne Crotty (Fundraising Co-ordinator) and Tonia Hymers (Newsletter Editor) were all eligible for re-election and were duly elected unopposed. Election of Committee Of the current committee members, (Richard Zimbler, Tina Hickey, Steven Burge and Allan Clark), Richard Zimbler and Tina Hickey were due to retire this year. We thank both Richard and Tina for their contribution to the Society over the past few years. Richard chose to stand for re-election and a nomination was received for Emma Oates. In the absence of any further nominations, both were elected to the committee unopposed. Chairman’s Report The Chairman’s Report was as follows: We have had a very busy year, building on the successful start-up of the Bardet-Biedl Syndrome Multi-Disciplinary Clinics, which continue to be held across four centres: Birmingham Children’s Hospital, Queen Elizabeth Hospital, Birmingham, Guys Hospital, London and Great Ormond Street Hospital for Children, London. LMBBS Clinics Limited, a subsidiary of the Laurence-Moon-Bardet-Biedl Society, continues to employ three support workers, who facilitate and attend these clinics, providing support to those who attend, before, during and after the appointment. LMBBS Clinics Ltd manages the patient database, with 382 affected adults and children listed. This is an increase of 90 patients in the past year alone and an increase of approximately 180 patients since the clinics first started. All four centres have booked additional clinic dates to cope with the increase in patient numbers and, at present, appointments are running at 18 monthly. Over the past year, we have encouraged volunteer involvement in the clinics and now have several individuals who are willing to attend and provide additional support when needed; all expenses are of course paid.

Feedback has again been excellent and the first four-centre meeting was finally held on 30th September 2011, to take stock of the first year. All four centres came together to compare clinic structure and findings and plans were made to standardise the clinics across the service. Plans were also made to develop a national database within the NHS of those with Bardet-Biedl Syndrome and their symptoms. We have been involved in a research project aimed at linking genotype with phenotype, which is already producing interesting links. The long-term aim of the study is to improve diagnosis, disease prediction and long-term management of the syndrome. Both the BBS Clinics database and the LMBBS membership database are updated regularly to ensure all records are accurate, in line with the Data Protection Act. The LMBBS membership database has increased to 515 members and 154 professionals, and these numbers are likely to continue to grow over the coming year. In respect of Fundraising, and as reported last year, we had a good start to the year, receiving grants totalling £8,000 from the Foyle Foundation, the Hedley Foundation and VICTA. These were for our Annual Weekend and Conference in April 2011 and we thank them for their generous support. Subsequent applications for funding were unsuccessful but donations received and the fundraising efforts of members and friends, many in response to the SOC(K) Appeal, raised around £25,000. Our very grateful thanks to everyone who had a part in raising such a fantastic sum of money for the Society, including those who gave matched funding. At the end of the year, we were delighted to receive a most generous donation of £10,000 from a friend of one of our members and we are considering how to put this to the best possible use. Our very grateful thanks to him for helping the Society in this way. Finally, we have applied to become members of the Fundraising Standards Board (FRSB). The FRSB is the independent self-regulatory body for UK fundraising and is backed by the Office for Civil Society, the Scottish Government and the Welsh Assembly Government. The FRSB helps members comply with fundraising best practice in order to raise standards and build public confidence in fundraising; members are able to use the ‘give with confidence’ tick on all fundraising materials In April 2011, we had another very successful Family Conference, with an excellent line-up of speakers and workshops. The LMBBS Family Conference 2012 is set to be bigger than ever, due to increased interest as a result of the families and professionals we have met through the Specialist Clinics. We expect this event to continue to grow and have booked the Hilton Hotel, Northampton, in its entirety for 2013 and 2014. A major consideration during the organisation of the annual Conference is the safety and well-being of the children during the weekend, in the crèche and on the trip to the theme park. Considerable time has been spent updating our child protection measures and this will be continued throughout the coming year, with key members of the team undergoing child protection training. In March 2011, we were invited to attend a reception at Westminster to mark Rare Disease Day 2011, together with other members of the Ciliopathy Alliance. We also had an attendance at Sight Village in Birmingham and London and Sight Support in Wales, raising awareness of the Syndrome and Society. We will continue to seek out and attend such events as they provide ideal opportunities for both raising awareness and for linking up with other like-minded groups or individuals.

We continue to have an active presence on the board of the Ciliopathy Alliance; our thanks go to our representatives, Drina and Michael Parker, for their excellent contribution on behalf of the Society. The Alliance has achieved charitable status and planning is well under way for its first major event in May - “Cilia 2012 Conference”. Although the Conference is intended to stimulate and encourage drug companies, medics, researchers and other cilia scientists, and is not aimed at patients or support groups, representatives of LMBBS will be attending the evening reception and will be on site throughout the Conference, manning an information desk at the adjoining exhibition. This very high profile, international Conference is expected to generate significant impetus to the fast-developing research into ciliopathies and their treatment. The LMBBS website has been very busy, receiving 7,380 visits by 5,554 people between 1st January 2011 and 31st December 2011. This is an increase of 2,500 visits on the previous year. 23,757 pages were viewed including the following: Home page 8602 visits Publications 1722 visits Research 1172 visits Clinics 964 visits About LMBBS 713 visits As reported last year, the chat forum was underused and has therefore been removed from the site. In 2011, the Society launched its Facebook page and this has been very well received. New families have gained much support and information from older members and it has also proven an effective communication tool for the Society. We have produced two newsletters and a Conference Report, with a further newsletter in progress. All of our publications are committed to the health promotion and lifestyle management issues of those with LMBBS and their families/carers and are distributed to our members in accessible formats, as well as being available on the LMBBS website. Finally, we have begun the long process of reproducing our medical booklet, with the aim of making it more patient focused. Relevant clinicians have been approached to update the content and we hope to have the new booklet completed and distributed over the coming year. I would like to thank Professor Beales for his continued support and dedication to the Society, without whom we would not have achieved the current status. My thanks also go to the members of our Committee for their unstinting work and their ever increasing workload; as always we will strive to work together to ensure the Society continues to go from strength to strength. Before I finish, many of you will have heard or read about the fantastic achievements of a young man from Southern Ireland, Shane Ryan, who was a member of the successful Irish rowing team. Shane has proudly informed us that he has been selected as one of the youngest members of the Irish crew to qualify for the 2012 London Paralympics. He has already been invited to the conference in 2013 to talk about his achievements. The Chairman introduced Allan Clark who presented the Financial Report on behalf of Kevin Sales.

Financial Report For the financial year, 1st January 2011 to 31st December 2011, the Society received an income of £58,364, an increase of £4,000 on the previous year. This included fundraising and donations of £21,970, marathon donations of £9,149, grants of £8,000 and donations from the Friends of LMBBS of £2,826. Expenses for the same period were £39,785, slightly up from the £39,000 at the end of 2010. This meant that the Society finished the year with a surplus of just over £18,000, an increase of nearly £3,000 on the previous year. The Society received an income of £13,874 from conference delegate contributions, however the cost to the Society for the weekend event was £28,917, a loss of £15,043. Over the past two years LMBBS Clinics has covered the cost of all newsletters and conference reports. In addition to the leaflet printing, which equates to approximately £6,000 per year, this has clearly assisted with the Society’s financial growth, however it cannot be relied on in the long-term. The LMBBS Clinics account experienced a short-term deficit in June 2011 and £2,500 was transferred from the Society account to the Clinics account as a temporary measure. It is the intention of the trustees that this will be repaid shortly. In April 2011 the Society’s Accountant, Michael Bannister, left Thompson & Co. and started his own business, Fryzer Bannister Financials Ltd. It was agreed at last year’s Annual General Meeting that the Society would stay with Mr Bannister and move to the new company with him. The transition went smoothly and we continue to benefit from Mr Bannister’s knowledge of the Society and his good relationship with the trustees. To sum up, it is clear that the main costs to the Society are the Annual Family Conference and its various publications and it is good to see that there are sufficient reserves at the year end to maintain these activities for the coming year. However, we can’t just maintain our present activities, we need to keep driving forward. Our leaflets all need reprinting and we want to seek new diverse ways of providing support to all members and to do this we need the continued support of the wonderful band of fundraisers and supporters. It is only with their help that we can further develop the objectives of the Society and move forward with purpose. Appointment of Auditor The Committee proposed that the Society continue to appoint Michael Bannister under his new company, Fryza Bannister Financials Ltd, for the coming financial year and this was duly agreed. Any Other Business In the absence of any other business, the meeting was closed. The date of the next meeting was set for Saturday 20th April 2013.

Delegates & Families Conference 2013

Jason & Claire Anstee James, Emmy &Holly Northampton Luke Archer Neil Burden Kent Julie Armstrong Oliver & James South Yorkshire Craig Barrass Newcastle Upon Tyne Victoria Booth Valerie Booth Switzerland Sonia Bouzidi Nathan Leicestershire Camilla Brown Rita Brown Jack Cardiff Rob Brunell Bristol Steve Burge Surrey Sue Buzzeo Rachel Wade Ashleigh Newcastle-upon-Tyne Allan Clark Scotland Wendy Copeland Jackie Chapman Alison Johnson Nottingham Mike & Margaret Covell Ben Covell Middlesex

Stefan Crocker Bedfordshire Alice Crum Karen Crum Ireland Doug & Sandra Dale Essex Paul Darville Plymouth Laura Day Harrowgate Nick & Laura Dowswell Greg East Wittering Lee Eccles & Clare Ward Birmingham Joseph Evans Kate Goldsmith Winchester Jackie Farrington Steve Moscrop Jack Middlewich Tracy Gibson Pat Doble Frinton-on-Sea Rebecca Goodman Exeter Diane Hand Stockport Rob & Nicola Hueting Skye & Ryan Berkhampstead Marc & Marie Hughes Emily London

Phil & Chris Humphreys James Humphreys Newport Rob & Tonia Hymers Daniel & Connor Essex Linda Irvine Jakub Pickett Damien Taylor Middlesex Shehnaaz Jinwalla Leeds Darron & Kate Jones Ellie South Wales Howard Jones Alex Jones Darlington Abhimanyu Kochhar Anuradha Kochhar London Ray & Doreen Larkin Cranbrook Graham Lilley Merseyside Graham Longly Yorkshire Grant & Lindsay Mapley Lydia & Lucas Reading Louise Martin Yorkshire Hazell McAllister London

Karl McCarthy & Jacqui Jones Chelsea & Keira Manchester Ian McDonald Pauline Reynolds Bath Sandra Messhi London Emma & Steve Oates Tom & Katie Harrogate John O’Donaghue Bernadette O’Donaghue London James O’Neil Surrey Jennifer & Mathew Pare Warwickshire Gareth & Kate Parker Grace Parker Bucks Michael & Drina Parker Richard Parker Daniel Parker Chalfont St Giles Tracey Pearce Billy & Lauren Shoeburyness Sian Petty Helen Petty Leicester Alan Rawlings Portugal Tom Rawlings Wiltshire

Robert & Margaret Roache Graeme Roache Scotland Nigel Robson Stephanie Robson Guernsey Marie & Tom Ryan Shane Ryan County Limerick Kevin & Julie Sales Hollie & Danielle Chloe Maclean Tunbridge Wells Mark Sargesson Dan Blake Surrey Stephen Sherwood Hereford Maurice & Sue Sloane Tom ,Oliver & Josh Kent Khadija Soorty Zainab Bradford Jill Staples Bristol Helen Stirland Jill Stirland Doncaster John & Lindsay Swales Evie Yorkshire Anne Taylor Keiran Taylor Pauline Taylor Scotland Julian Thomas Hampshire

Marie Timmons Shaun Owen Suvannah Wolverhampton Joanna Vallance Carole Vallance New Barnet, London Laura Wilson Katrina Wilcox Gwent Sally Yates Jodie Davies Dan Wright Milton Keynes Sean & Hannah Young Ipswich Richard Zimbler Welshpool Professionals Dr Torsten Baldeweg ICH, London Professor T Barrett BCH, Birmingham Professor Phil Beales ICH, London Dr. Gabrielle Berman Tunbridge Wells Janet Bristow Sarah Byrne Affinity Trust care Home Tim Broome RNCB, Hereford Sadie Chentouf Guys Hospital, London

Sonja Christou ICH, London Anna Diaz-Font ICH, London Sarah Flack GOSH John Gilpin Affinity Trust Care Home David Head RP Fighting Blindness Victor Hernandez ICH, London Kjell Arne Hoeviskeland LMBBS Norway Dr Beth Hoskins University College London Dagan Jenkins University College London Sue King Gloucestershire CC Kerry Leeson-Beevers Alstrom Society UK Annika Lindberg Guys Hospital, London Marie McGee BBS Clinics, Birmingham Dr Shelah Mohammed Guys Hospital, London

Richard Oedegaard LMBBS Norway Ray Perry Benefits Officer Kent Lesley Porter BBS Clinic, BCH, Birmingham Miriam Schmidts ICH, London Lorraine Shaw BCH, Birmingham Kath Sparks & Noah BBS Clinical Nurse Specialist Imogen Underwood BCH, Birmingham LMBBS Care Team Andy Beale Ann Beale Lucie Carter Alan & Karen Cave Dennis & Fiona Clark Alex & Harrison Joe Cleary

Martin & Glenda Cleary Harriet Coxhead Mark Gibson Mark & Claire Gillman Leah & Thomas Paul & Sharon Hartfield Jane Hollyer Carl Larkin Alex & Barbara Leake Michael & Karen Masters Gemma Steve & Lorraine Maclean Matt Nash Alan & Denise Nice Barbara Sales Paul Sales Mark & Wendy Waters Jordan Denise Watts Helen Watts Jason & Amanda Wilbraham

Evaluation Form LMBBS Family Conference 19th- 21st April 2013

Constructive criticism is helpful to the conference organisers; tell us what works and what doesn’t and we will do our best to improve year on year. Please rate the following on a scale of 1 to 5, we would also really appreciate your comments. 1: Very unhappy / 2: unhappy / 3: Neither unhappy nor happy / 4: happy / 5: Very happy 1 2 3 4 5 The AGM: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… 1 2 3 4 5 The Saturday morning programme: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… 1 2 3 4 5 The Saturday afternoon programme: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… 1 2 3 4 5 Workshops: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… 1 2 3 4 5 N/A Childcare – Drayton Manor: …………………………………………………………………………………………………………………………………………………………… ……………………………………………………………………………………………………………………………………………………………

1 2 3 4 5 N/A Childcare – Creche: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… 1 2 3 4 5 N/A Children’s activities: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… 1 2 3 4 5 Evening entertainment: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… 1 2 3 4 5 Meals/Accommodation: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… Which part of the day did you find the most interesting? …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… Your suggestions for future conferences, topics, speakers, children’s activities etc: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… Don’t forget you can exchange your completed form for a strip of raffle tickets!