2017 grant recipients


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Batten Disease (2012)

Batten Disease Family Association

Batten disease is a rare, life-limiting genetic disorder. Symptoms usually appear in children between the age of two and ten years old. They include blindness and seizures, behaviour changes, slow learning, loss of body fat and muscle tone. Gradually children might lose their mental and physical abilities and die prematurely.

Our grant will cover the costs for childcare for affected children and siblings at a BDFA family networking weekend. Parents can meet and provide each other with lasting friendships and support. Coming together from across the country, they will get the chance to talk to professionals and attend workshops while their children are well looked after and entertained.

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Childhood Tumour Trust

Childhood Tumour Trust

Neurofibromatosis (NF) causes tumours to grow around nerves and other tissues and in the brain. Affected children can suffer severe pain and disability as a result of nerve compression. They can lose their sight, hearing and mobility, depending on which nerves are impacted, and when tumours form in the brain, children can experience learning difficulties and behaviour changes. Many have mobility issues.

Our grant will provide a four-day activity break to a PGL camp for 30 children. This will encourage affected young people to form lifetime friendships and support networks and the opportunity to feel like they are coping with this condition on their own.

Cystic Fibrosis Trust

Cystic Fibrosis Trust

Cystic fibrosis (CF) is a life-shortening genetic disorder that affects more than 10,800 people in the UK. The lungs and digestive system of children with CF become clogged with thick mucus resulting in infections and inflammations in the lungs, these cause difficulty breathing and digesting food. CF requires a gruelling treatment regime that can isolate young people and reduce their confidence. They cannot meet each other in person because of the risk of cross-infection.

Our grant will help fund a six-week online course devised by the trust’s Youth Advisory Group and CF experts. The course will teach young CF patients essential skills such as managing their own health, balancing CF and life, employability, self-confidence and resilience, equipping them for adulthood.

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DBA UK

DBA UK

Diamond Blackfan Anaemia (DBA) is a rare blood condition usually diagnosed before a baby’s first birthday. Affected children can not produce red blood cells properly, which means their growth is restricted and they suffer severe fatigue. To stay healthy they need treatments ranging from monthly blood transfusions to regular steroid treatment and in some cases bone marrow transplantation.

Our grant will fund a DBA UK family weekend - empowering and supporting parents of affected children. Mums, dads and carers will meet each other and leading medical experts to share vital information about equipment, nutrition programmes, tips for dealing with their children’s medications and updates on DBA research and care.

Doncaster Deaf Trust

Doncaster Deaf Trust

Doncaster Deaf Trust manages a nursery, school, college and care homes for deaf children, including those with genetic conditions such as Fragile X, which leads to learning difficulties and health issues, and Rett syndrome, a degenerative life-limiting disorder.

Our grant will provide a fantastic array of musical instruments and equipment from guitars to drum kits and amps to teach enthusiastic hearing impaired children with severe disabilities to express themselves through singing, dancing, beats and vibrations.

Down Syndrome Training & Support Service Ltd

Down Syndrome Training & Support Service Ltd

There are 11,625 children living with Down syndrome in the UK. Each one has some degree of learning disability and many have heart defects, hearing/vision difficulties, diabetes, and thyroid problems. Friendships and a social life can be hard to find for these children.

Our grant will pay the salary for a youth worker and an assistant (who has Down syndrome) at a WisH (Weekend is Here!) Club for 11 to 18 year olds in Bradford. The club will provide a fantastic opportunity for affected young people to socialise, meet new friends and learn skills without feeling vulnerable.

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The Haemophilia Society

The Haemophilia Society

Haemophilia is a genetic disorder which affects the way blood clots. Children and young people are affected by internal bleeds into joints, muscles and other tissues, which can cause severe pain and have a dramatic effect on their well-being. Diagnosis without a history of Haemophilia can be traumatic for children and parents.

Our grant will fund a family day at which parents will learn from experts and each other how best to navigate complex treatment and care, enhance their own confidence and mental wellbeing and enable their affected children to live well.

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Inclusive Skating

Inclusive Skating

Inclusive Skating encourages children with genetic disorders to get their skates on and get out on ice rinks, instilling a joy of sport, movement and music. It allows children and young people to compete at levels classified to suit them.

Our grant will establish a new Inclusive Skating for Genes British Championship as part of the Inclusive Skating International Skating Competition. This event will motivate children with an array of genetic disorders to become actively involved in a sport which will benefit them emotionally as well as physically.

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The Lily Foundation

The Lily Foundation

Mitochondrial disease occurs when a child’s cells don’t produce enough energy to work properly. This can affect the development of parts of the body such as the brain, heart, liver and kidneys. Affected children often experience severe physical and learning disability, and a significant number die in infancy.

Our grant will provide on-site entertainment for children at two family days. So while children and siblings enjoy fairground rides, stalls, dance, science and circus workshops; their parents will be able to learn more about Mitochondrial disease from other mums and dads and experts who will also attend.

Little People UK

Little People UK

There are more than 200 genetic disorders that cause dwarfism. As well as being shorter than average, children with one of these conditions can encounter a range of medical conditions, including spinal problems that require surgery, mobility issues and joint pain.

Our grant will fund a video created by LPUK showing the positive side of these conditions but also the challenges. The film will encourage newly diagnosed families and people with no understanding of dwarfism to see children and adults can live fulfilled, happy lives, helping build a positive future for affected families.

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Max Appeal (2012)

Max Appeal

22q deletion syndromes, including DiGeorge syndrome and Velo-Cardio-Facial syndrome, are genetic disorders that cause a wide range of health complications, including heart defects that often require surgery, seizures, a compromised immune system, speech and language delay, learning difficulties and mental health problems.

Our grant will help fund an activity weekend for affected children and young people with complex health and social needs. Here they can try archery, shelter building, outdoor cooking, and assault causes for the first time. They will form friendships and practice life skills that will empower them as young adults.

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Newlife

Newlife

Newlife is the UK’s largest charity funder of children’s specialist disability equipment and the UK’s only provider of a national emergency equipment service for terminally ill children.

In 2014, GDUK entered into a partnership with Newlife to guarantee the provision of funds each year from moneys raised on Jeans for Genes Day to provide equipment for families affected by a genetic disorder who contact Newlife seeking assistance.

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Pachyonychia Congenita Project Europe

Pachyonychia Congenita Project Europe

PC is most often diagnosed when a toddler starts walking and finds his or her first steps painful. It is an ultra-rare skin disorder characterised by painful callouses and blisters on the soles of the feet, thickened nails and cysts. Managing symptoms can be difficult for parents.

Our grant will fund an area of the PCPE website and a booklet dedicated to the emotional and physical care of affected children. Parents, some of whom have no family history of the condition, schools and nurseries will find age-specific, practical advice on how to best look after their affected children. The booklet will help older children take control of their condition.

Pitt Hopkins UK

Pitt Hopkins UK

Developmental delay, limited or no speech, epilepsy, hyperventilation and distinctive facial features are just some of the symptoms of Pitt Hopkins syndrome. There are about 70 families with affected children in the UK, it is not well known in the medical community.

Our grant will pay for a dedicated Skype line for parents which they can call for confidential, practical and emotional advice. Newly diagnosed families can learn about the condition in one conversation rather than a series of emails. Parents of older children can ask advice as different problems arise.

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Sandcastle Trust

Sandcastle Trust

The Sandcastle Trust supports families and children with genetic disorders which affect less than five in 10,000 of the population. Families have to become experts in these conditions and can feel lonely coping with an ultra-rare disorder where there is no dedicated support group.

Our grant will fund the development of a new website for the Sandcastle Trust to help increase the charity’s reach and impact. It will allow Sandcastle to help more children by communicating with a wider audience, give advice on shared issues and reduce the isolation and stress suffered by affected families.Rett syndrome is a life-limiting neurological genetic disorder and the most common cause of profound learning disability affecting girls. Affected girls develop normally in early infancy but then, at around two years of age, their development starts to regress and they lose their ability to speak, to coordinate hand movements, their balance and their ability to walk. Girls with Rett syndrome ultimately require lifelong 24-hour care.

Scottish Huntington’s Association

Scottish Huntington’s Association

Huntington’s disease is a genetic disorder that affects the central nervous system. It causes degeneration of brain cells, which leads to gradual physical, mental and emotional changes, eventually impairing a person’s ability to walk, talk, think and reason. The condition usually develops in adulthood but around 10 per cent of those affected can show symptoms while they are a child.

Our grant will provide young carers of adults with Huntington’s disease a Summer Youth Camp where they can take a break from the pressures of looking after a family member with HD while meeting other children in their situation. They will be given accurate age-appropriate information about the condition, enabling them to face the future with confidence.

Smith-Magenis Syndrome Foundation UK

Smith-Magenis Syndrome Foundation UK

Smith-Magenis syndrome is a genetic disorder characterised by learning disability, delayed speech and language skills, disturbed sleep and behavioural problems. Affected children can often experience extremely agitated outbursts and anxiety, feeding problems affecting their growth, and vision and hearing problems.

Our grant will fund a creche for affected children and siblings at a family gathering. Parents, who often suffer from stress and sleep-deprivation, can relax and focus on learning from attending experts and each other while their children are looked after.

Sohana Research Fund

Sohana Research Fund

Epidermolysis Bullosa (EB) is a group of rare genetic disorders that makes the skin extremely fragile. Blisters, open wounds and sores can form as a result of the slightest touch, rub or trauma. Children affected by even the milder forms of EB suffer blistering on the hands and the soles of the feet, making it difficult for them to walk and perform everyday tasks. The more severe forms of EB cause significant disability, and certain types are fatal in infancy.

Our grant will fund a family day where parents can meet the SRF team and spend time with Professor John McGrath who is leading groundbreaking research into EB. Children vulnerable to rough play can meet each other and play safely and families will no longer feel alone coping with this difficult condition.

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Teddington Trust

Teddington Trust

Children with Xeroderma pigmentosum are 10,000 times more likely to develop skin cancer than the general population. They must be completely covered at all times when they step outside. This rare genetic disorder that is characterised by the body’s inability to repair damage to skin that is caused by ultraviolet light from the sun and most sources of artificial light.

Our grant will allow the families of ten children to enjoy an unforgettable day and night together at Legoland Windsor hotel which is UV safe. Not only will they stay in the hotel, the children will be able to play on rides and see the exhibits after hours when they don’t have to wear their restrictive clothing. They will also have age-appropriate workshops on the importance of photo-protection.

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Williams Syndrome Foundation

Williams Syndrome Foundation

Children with Williams syndrome suffer learning difficulties, and physical and mental health problems including anxiety and depression. Slow weight gain, poor feeding, dehydration, hernias and heart problems can all be symptoms. Williams syndrome occurs randomly and affects around one in 18,000 people in the UK.

Our grant will enable families to meet for a weekend, share information and listen to presentations from researchers and professionals vital for the care of children with Williams syndrome, helping families relax, learn and manage the condition much more successfully.

Wolfram Syndrome UK

Wolfram Syndrome UK

Wolfram syndrome affects 1 in 500,000 children in the UK. Children affected by Wolfram syndrome are likely to be registered blind by the time they are teenagers, become deaf in their teenage years, develop renal problems in their twenties and neurological complications in their thirties.

Our grant will pay for a full time worker to manage Wolfram Syndrome UK and increase the scale, range and impact of the charity’s work, supporting families and children through referrals and diagnoses and being the first point of contact for many parents.

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Zellweger UK

Zellweger UK

Zellweger spectrum is a range of genetic disorders characterised by the absence of ‘peroxisomes’. These are parts of the cell which break down toxic substances and process fatty acid necessary for the cell to function. Life expectancy ranges from a day old to living into your 30s. 70 per cent of children die in the first six months.

Our grant will fund a much-needed get together for parents, affected children and their siblings. Doctors and scientists will attend to meet families and answer questions and provide presentations to help families understand the syndromes they face and what can be done.