LMBBS Family Conference 2014
Welcome to the LMBBS Family Conference 2014; we are delighted to have you with us for the weekend and hope you have a fantastic time. Members who have not previously attended our Conference will discover a weekend packed with activities, fun and laughter, where old and new members meet to share experiences and to learn about the latest research, all within this wonderful Hilton Hotel setting, where we have held our Family Conference for the past 15 years.
Inside this pack, you will find all the information you should need about this very special weekend, however if you have any questions, don’t hesitate to ask someone - we are a friendly bunch!
Please take the time to scroll through the weekend programme as soon as possible to ensure you don’t miss out on any of the many activities planned. We have many professionals attending for the weekend, including Ray (benefits advisor), Annika (Psychologist), Sarah and Waseema (dietitians) and Caroleen (Speech and Language) and they will be very pleased to chat with you.
At the end of this pack is an evaluation form, which is vitally important in the organisation of our weekend conference. We really want to know what you think, what works and what doesn’t, to ensure that this valuable event remains focused and provides you with the speakers and activities that you want. All forms completed by 7pm Saturday, can be exchanged for a free strip of raffle tickets.
All that leaves, is for me to say have a fantastic weekend and make the most of every minute; I look forward to meeting you all over the coming two days.
Chris
Chris Humphreys
Conference Co-ordinator
Weekend Programme of Events
Friday
From 3pm
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
6.00pm to 8pm
Evening meal (rolling service) will be served in Season’s Restaurant.
7pm-9pm
Activities and Games in the Watson Room
7pm-8pm
Ceramic Mosaic Crafts (for older teens/young adults
and adults) in the Lowther Room
7pm-9pm
BBS Resource Central in Collingtree 2: Including
BBS Clinicians, Benefits Advisor, Guide Dogs,
Northampton Assoc for the Blind, Royal National
College for the Blind.
7.00pm
Families meet Creche Care Team in the Isham Room
7.30pm
Meet the Drayton Manor and Bowling Care Teams in the Spencer Room
From 8pm
Meet new friends and catch up with old: Steve Burge
and Richard Zimbler invite all adults affected by
LMBBS to a reception in Collingtree 1
8.00pm
Is this your first conference? Meet other BBS parents in the Brudenell Room
9pm
Meet up with friends ‘old and new’ in the lobby/bar area
We are excited to present ‘BBS Resource Central’ in Collingtree 2 on Friday evening:
· Benefits Information and Support - Ray Perry
· Guide Dogs for the Blind - Maria Peploe
· Royal National College for the Blind - Tim Broome
· Clinical Counselling Psychologist - Annika Lindberg
· Speech and Language Therapist - Caroleen Shipster
· Transition Support for Young People - Marie McGee
· Food Tasting Session for Children/Young People - Sarah Flack/Waseema Azam
· Understanding the Science behind LMBBS - Dr Helen May-Simera
· Clinical Nurse Specialist - Kathryn Sparks
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.
Saturday
7.15am-9am
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 Isham Room
9.30am-4.45pm
Saturday Conference Programme in Collingtree
(see separate schedule)
11.30am
Carers and those going on Ten Pin Bowling trip to
meet in the FOYER
4.00pm
Carers and young adults return from Ten Pin Bowling
5.00pm
Crèche closes – please collect your child promptly.
5.00pm
Children and carers return from Drayton Manor.
6.30pm-8pm
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 in Spencer
Room. Music Jamming Session in Brudenell Room.
7.30pm
Ceramic Mosaic Crafts (for older teens/young adults
and adults) in Lowther Room
9.00pm
Supervised activities for children/young adults end. Parents are asked to take responsibility for their children please.
9.15pm
Famous Family Quiz in Collingtree with our Quiz
Master Mark Gibson, followed by the Grand Raffle.
11pm-late Nightcap in the Lobby/Bar area
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.
LMBBS Saturday Conference Programme
8:30am
Registration and refreshments in lobby for day delegates
9:15am
Conference opens in Collingtree
9:25am
Welcome and Introduction to the Day:
Professor Philip Beales
9:35am
LMBBS Annual General Meeting
10:00am
Update on Research and Study of LMBBS Professor Philip Beales
10:40am
Benefits: Ray Perry
10:50am
Refreshments – Collingtree 2 and Business Corridor
11:10am
How Cilia Can Help us to See: Dr Helen May-Simera
11:35am
Coping Better With Bardet-Biedl Syndrome: An introduction to coping skills for the affected individuals and their loved ones: Annika Lindberg
12:00pm
Personal Perspective: Stefan Crocker
12:15pm
Short Introduction to Speech/Language Workshop
Caroleen Shipster
12.25pm
Results from the BBS Clinic Questionnaire and Future
Research: Dr Elizabeth Forsythe and Kath Sparks
12.55-2pm
Lunch in Seasons Restaurant and Lobby
Workshops
2:05pm-2:35pm / 2:40pm-3:10pm / 3:15pm-3.45pm
Choose 3 workshops to attend from the list below; each workshop lasts 30 minutes.
Professor Phil Beales & Dr Helen May-Simera Informal Q & A Collingtree 1
Genotype/Phenotype Questionnaire
Dr Elizabeth Forsythe and
Kathryn Sparks
Collingtree 2
Clinical Psychologist
Annika Lindberg
Brudenell Room
Supporting Young People through Transition
Marie McGee
Lowther Room
Parents Supporting Parents:
Information and Chat
Laura Dowswell & Claire Anstee
Reception
BBS Dietitian – BCH
Waseema Azam
1st Session: Watson
BBS Dietitian – GOSH
Sarah Flack
2ndSession: Watson
BBS Dietitian- GUYS
Christie Emsley
3rd Session: Watson
Benefits Info and Support
Ray Perry
Meeting Room 1
Royal National College for the Blind
Tim Broome
Lobby
3.50pm Return to Collingtree
3.45pm Personal Perspective
Rebecca Goodman
4:45pm Closing Remarks
Conference Speakers and Workshop Facilitators
Claire Anstee
Parents Supporting Parents Workshop
I have been married to Jason for 15 years and we have three children, James is 16, Emmy is 11 and Holly is 8. 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.
We contacted the Society just as our daughter Emmy was being diagnosed; the support we gained was amazing and made a huge difference to us. Even though Emmy wasn’t formerly diagnosed at the time, 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 have 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 Contact’, via email, telephone, as well as at conference in the New Families meeting.
Laura and I held our first ‘Parents Supporting Parents’ workshop at last year’s conference. We hope to offer a friendly ear of support as well as to provide information that may be useful and give positive experiences, in what can be a worrying and daunting time. I look forward to seeing old friends and welcoming the new at conference.
Waseema Azam
Dietitian, Birmingham Children’s Hospital
Waseema qualified in 1995, gaining a Bsc (Hons) in Applied Human Nutrition and Dietetics at Cardiff University.
In 1995, Waseema worked as a Locum Dietician in General Dietetics at Singleton Hospital, Swansea, moving later to take a post as Basic Grade Dietician, specialising in Diabetes and Gastroenterology at the City Hospital in Birmingham.
From 1998 to 2009, Waseema held the post of Senior Gastroenterology Dietician, specialising in Coeliac Disease and Upper Gastro-Intestinal Surgery, moving to Birmingham Children’s Hospital in 2009 as Diabetes Clinical Specialist and Research Paediatric Dietician Specialist in the areas of Diabetes and Bardet-Biedl Syndrome. Waseema is now full time Diabetes Clinical Specialist and is the BBS Clinics Dietitian, working with the families who attend Birmingham Children’s Hospital.
Professor Philip Beales.
Institute of Child Health, Great Ormond Street Hospital and Guys and St. Thomas’ NHS Trust
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.
Also in 1999, Professor Beales, along with colleagues at Baylor College of Medicine in Houston, discovered the first gene (BBS6) to cause LMBBS. Since then, at least 18 genes are now linked to the syndrome.
Professor Beales is based at The Institute of Child Health/Great Ormond Street Hospital where he heads the Cilia Disorders Laboratory. 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 have brought closer the goal of designing 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.
Stefan Crocker
Personal Perspective
I am 32 and was diagnosed with LMBBS ten years ago. Before diagnosis, I always had to explain my symptoms as separate ailments, however diagnosis allowed me to use a single label and I felt better able to explain. I struggled to see in the evening and at night, so after diagnosis, I contacted the local visual impairment team and had mobility training; now the white cane is out most of the time once it gets dark. Apart from that, diagnosis allowed me to investigate other ways of coping with the syndrome such as magnifier computer software, and a talking button phone, which has now been upgraded to a a shiny touch screen talking IPhone (other smart phones are available!). The main thing diagnosis has helped me with, is coping in general and being more confident with the syndrome. Education wise, I am currently studying Politics at the University of Portsmouth. I am in my final year which means facing the joys of writing my dissertation and mingling with the locals, who are maybe not that understanding of my white cane 100% of the time!
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 four 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.
Christie Emsley
Registered Dietitian at Guy's & St Thomas' NHS Foundation Trust.
Christie has been a member of the Guy’s team for over a year, since moving to London from Australia, where she studied Nutrition and Dietetics and Human Movement. She has experience in nutrition relating to obesity, diabetes, renal disease, cardiovascular disease, malnutrition and food intolerances. Christie enjoys travelling and is currently training for her first marathon.
Sarah Flack
Principal Dietitian, Great Ormond Street Hospital for Children NHS Trust
Sarah has worked at Great Ormond Street Hospital for 16 years and has covered a wide variety of clinical areas during this time. Prior to maternity leave five 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 five and nine) which have offered new insights into the challenges of providing a healthy, balanced diet in practice!
Dr Elizabeth Forsythe
Clinical geneticist
Elizabeth is a clinical geneticist, working with Professor Beales as part of the genetics team in the BBS clinics in London; she is also a member of Professor Beales’ research team in his Cilia Disorders laboratory. Elizabeth also a special interest in understanding genotype-phenotype correlations (i.e. whether the type of genetic change affects the medical problems a person with BBS encounters) and developing therapeutics for Bardet-Biedl syndrome.
Rebecca Goodman