ALD Life
ALD (adrenoleukodystrophy) is a devastating rare, terminal genetic brain disorder that mainly affects apparently healthy young boys. They quickly lose all function, rendering them into a vegetative state within months and generally causing death within a year of diagnosis. Our grant will fund four children’s places at ALD Life’s Weekend Get Together and Information Day, vital for advice, support and morale for families facing this challenging condition. For further information go to: www.aldlife.org
Ataxia UK
Ataxia is a life-limiting neurological condition which gradually makes sufferers lose control of bodily functions including balance, speech and co-ordination. There is no cure and eventually it leads to entire dependence on others. It is estimated that 5,000 children in the UK have the condition. National charity Ataxia UK will use our grant to fund its Young Person’s Information Project - the production of a booklet and film for teenagers, and a booklet for parents and carers of children with ataxia. For further information go to: www.ataxia.org.uk
Cardiac Risk in the Young (CRY)
Every week, 12 young people in the UK die suddenly and unexpectedly as a result of undiagnosed heart conditions (Sudden Death Syndrome), the majority caused by hereditary conditions such as Long QT Syndrome. Cardiac Risk in the Young (CRY) is the only organisation that focuses on Sudden Death Syndrome in young people. They will use our grant to run Regional Surgery Supporters Network meetings, offering support to youngsters following diagnosis of a cardiac condition. For further information go to: www.c-r-y.org.uk
Caring Matters Now
Congenital Melanocytic Naevi (CMN) is a disfiguring skin disorder that causes pigmented, hairy moles covering up to 80 per cent of the body, making sufferers self-conscious because of the attention they can draw. Support group Caring Matters Now (CMN) will use our grant to fund the charity’s first family activity weekend, including opportunities for the children to swim without any of the stress and anxiety associated with using public pools. For further information go to: www.caringmattersnow.co.uk
Deafblind Scotland
More than 80 members of Deafblind Scotland have Usher Syndrome, a genetic condition often diagnosed in the early teens or twenties which leads to both hearing and vision loss. This can be devastating and invariably leaves youngsters feeling uncertain about their future. Our grant will fund a project worker for the Usher Outreach Project. This will help children and young people with Usher Syndrome by providing peer mentors to give them support and inspiration for the challenges ahead. For further information go to: www.deafblindscotland.org.uk
Deafness Research UK
Deafness among the Bangladeshi population in the London Borough of Tower Hamlets is three to six times the national average, possibly due in part to marriages between cousins and the passing on of recessive deafness genes. These deafness rates are worrying for the community. Our grant will be used by Deafness Research UK to carry out research to help understand the genetic cause of deafness within the Bangladeshi community. For further information go to: www.deafnessresearch.org.uk
Ectodermal Dysplasia Society
Ectodermal Dysplasias (EDs) are a group of around 150 genetic disorders affecting the development or function of sweat glands, skin, teeth, hair and nails. Our grant will help the Ectodermal Dysplasia Society to move out of the founder’s family home where the charity has been housed for the last 14 years and into new premises so that the charity can focus its time and resources on support for its members. For further information go to: www.ectodermaldysplasia.org
Headlines Craniofacial Support Group
Craniosysnostosis is a condition where the skull sutures (seams) fuse prematurely, leading to problems such as severe disfigurement and difficulties with learning, vision and breathing. The combination of rarity and disfigurement often makes sufferers feel extremely isolated, particularly when they are teenagers. Our grant will be used by the Headlines support group to make an educational DVD, featuring parents, children and young people, to offer new members information, reassurance and hope for the future. For further information go to: www.headlines.org.uk
Herefordshire Learning Disability Trust
Herefordshire Learning Disability Trust is an umbrella organisation representing youngsters with genetic conditions. It is based at a special school in Hereford and currently has 17 out of 80 pupils with genetic disorders. Our grant will fund 17 places at a summer holiday club to benefit children with genetic conditions plus a further 13 places for able-bodied children. The club will offer the opportunity for all the youngsters to do sports, crafts and team-building, as well as providing respite for parents. For further information go to: www.hldt.org.uk
Huntington’s Disease Association
Huntington’s disease (HD) is a degenerative inherited illness of the central nervous system which causes dementia and severe physical incapacity. About 5-10 per cent of HD sufferers have Juvenile HD (JHD), where it develops before the age of 20, making it an isolating experiencing. Our grant will be used to fund a Juvenile Huntington’s Disease Family Weekend to enable young sufferers of JHD people and their families to meet others, talk to JHD professionals and take part in fun activities such as horse-riding. For further information go to: www.hda.org.uk
Ichthyosis Support Group (ISG)
Ichthyosis is a life-long skin condition that can be life threatening and excruciatingly painful. For many it affects their life chances, their health and their well-being and because it is extremely rare many sufferers are left feeling isolated and stigmatised by their condition. Our grant will fund the ISG’s 2011 conference where there will be opportunities for families to attend talks given by dermatology specialists, have one to one appointments and meet other families for friendship and support. For further information go to: www.ichthyosis.org.uk
Jewish Genetic Disorders UK
The Jewish community is affected disproportionately by genetic disorders, such as Tay Sachs Disease, compared with the general population as a whole. Our grant will be used by newly founded charity Jewish Genetic Disorders UK (JGD UK) to develop a targeted resource and referral service and to raise awareness about genetic disorders within the Jewish community. For further information go to: www.jewishgeneticdisordersuk.org
Muscular Dystrophy Campaign
Congenital Myasthenic Syndrome (CMS) is a type of muscular dystrophy, leading to breathing difficulties and developmental delay such as problems walking. Around 200 UK children are affected by CMS, and around one in six CMS children die in infancy. The Muscular Dystrophy Campaign will invest our grant in a genetic research project investigating CMS, led by Professor Dame Kay Davies DBE and Dr Kelly Perkins. for further information go to: www.muscular-dystrophy.org
Myasthenia Gravis Association
Myasthenia Gravis (MG) is an autoimmune disease that leads to weakness of voluntary muscles such as those controlling breathing, talking, chewing, eye movement and even facial expressions. It is thought that around 200 UK children have Congenital Myasthenic Syndrome (CMS). Subtle signs and variations in children’s muscle strength may signal the onset of a CMS crisis. MyasthenicKids, the national children’s branch of The Myasthenia Gravis Association (MGA), will use our grant to conduct a research project with the aim of developing a usable clinical assessment tool for monitoring levels of weakness in myasthenic children. For further information go to: www.mgauk.org
Nicolaides-Baraitser Syndrome
Nicolaides-Baraitser Syndrome is an extremely rare genetic condition causing mental delay and absent or limited speech. At present there is no support group or charity to bring the community of Nicolaides-Baraitser Syndrome together. Our grant will help a UK father whose son has the condition to set up a new support group and UK website. For further information go to: Nicolaides-Baraitser Syndrome
Noonan UK
Noonan Syndrome (NS) causes distinctive facial features, short stature and congenital heart disease. Up until now, those wanting information and support have had to contact the US-based The Noonan Syndrome Support Group International (TNSSG Inc.). Our grant will help to set up the UK chapter of TNSSG Inc. For further information go to: www.noonansyndrome.org
PCD Family Support Group
PCD (Primary Ciliary Dyskinesia) is a condition in which the cilia (microscopic hairs involved in the movement of bodily secretions) don’t function properly. It can affect lungs, nose, sinuses, ears and fertility, making sufferers prone to recurrent infections and even lung damage. Our grant is to fund an annual PCD family support day to give families the chance to meet others dealing with the same condition, listen to speakers and talk to experts. For further information got to: www.pcdsupport.org.uk
Restricted Growth Association
It is estimated that restricted growth affects around 1 in 10,000 births per year and that around 6,000 UK people have a restricted growth condition. It is not unusual for youngsters affected by restricted growth to be bullied and this can damage self-esteem. Our grant will fund an activity weekend to boost the confidence of young members and encourage them to share their experiences with others. For further information go to: www.restrictedgrowth.co.uk
RNID
Every day, two babies are born with significant hearing loss in the UK, and one in 1000 is profoundly or severely deaf by the age of three. In at least half of these children, the cause is genetic. The RNID (Royal National Institute for Deaf People) provides practical support and help to people who are deaf or hard of hearing. Our grant will enable five talented PhD or post-doctoral students to attend a prestigious deafness research conference to present their work and speak with leaders in the field. For further information go to: www.rnid.org.uk
Rett UK
Rett Syndrome (RS) is a rare neurological disorder affecting mainly females. Girls develop normally up until 18 months, but then start to lose speech, hand skills and often the ability to walk. RS children end up requiring life-long 24-hour care. Rett UK will use our grant to fund a Family Regional Support Day to enable families to network and meet local professionals. For further information go to: www.rettuk.org
RTS Support Group
Rubinstein-Taybi Syndrome (RTS)is a rare genetic disorder affecting one in 100,000-300,000 babies. It is characterised by short stature and learning difficulties, and people with RTS are also at risk of a range of other health issues such as heart defects and digestive problems. The RTS Support Group will use our grant to enable members to attend an international conference in the Netherlands. This will enable them to meet other RTS families, gather information from key experts and support one another. For further information go to: www.rtsuk.org/home/index.asp
Soft UK
Soft UK helps those affected by trisomy 13 (Patau’s Syndrome) and trisomy 18 (Edwards’ Syndrome) or a related disorder, all of which have a low survival rate due to heart abnormalities and other internal organ disorders. SOFT UK supports parents following diagnosis and bereavement, which is sadly commonplace. Our grant will be used to hold SOFT UK’s 21st annual UK family weekend, attended by parents and children, plus experts from around the world. It will culminate in a balloon release in remembrance of SOFT babies and children. For further information go to: www.soft.org.uk/
Treacher Collins Family Support Group
Treacher Collins Syndrome (TCS) is a genetic condition which causes malformation of the facial bones and deafness. Children and teenagers suffering from this condition look different to their peers and as a a result they can suffer from bullying and feel isolated. Our grant will enable a young person with TCS to make a short film about living with the syndrome as a resource for others. For further information go to: www.treachercollins.net
TRPS UK
TRPS (tricho-rhino-phalangeal syndrome) is a rare genetic disorder that causes symptoms including reduced growth, bone and joint problems. Children often have problems at school because they have difficulty holding pens, are frequently absent due to joint pains. Our grant will be used to fund a family information and support day organised by TRPS UK which will include medical updates, information sharing and family support. Lack of funds has prevented TRPSUK from hosting a family day since 2006. For further information go to: www.trpsuk.org
Unique
Unique is the UK’s only charity for children and families affected by a rare chromosome disorder (RCD). It fills a crucial gap in service provision by offering specialist information and support to help reduce the isolation felt by families of children with very rare conditions. The charity will use our grant to bring RCD families together at a Beating the Isolation family conference with experts including geneticists, paediatricians and psychologists. For further information go to: www.rarechromo.org