2016 grant recipients


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Albinism Fellowship (2016)

Albinism Fellowship

Albinism is a genetic disorder that is caused by a lack of the pigment melanin. Affected children have very pale coloured skin, hair and eyes, and often experience visual impairment as melanin is a key component in the development of the optical system.

Our grant will fund the creation and publication of a booklet about the eye conditions associated with albinism for newly diagnosed parents to give to the medical and educational professionals who provide support for their children.

Angelman Syndrome Support Education & Research Trust (ASSERT) (2016)

Angelman Syndrome Support Education & Research Trust (ASSERT)

Angelman syndrome is a rare genetic disorder that affects the nervous system causing severe physical and intellectual disability. Affected people have complex, multiple learning difficulties; poor balance and mobility; little or no speech; and experience frequent seizures and chronic sleep disturbance.

Our grant will help fund a family conference where parents can hear from leading experts and attend a wide range of seminars and workshops on Angelman syndrome whilst the children, their siblings and a carer enjoy time together off site.

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Bardet-Biedl syndrome UK (2016)

Bardet-Biedl syndrome UK

Bardet-Biedl syndrome is a rare genetic disorder that affects many parts of the body. Affected children experience developmental delay and learning difficulties; suffer from visual impairment leading to blindness; have long-term health problems associated with obesity and kidney abnormalities; and have difficulties with speech and language, and balance and coordination.

Our grant will help fund the creation of a series of booklets and a workshop developed in collaboration with young people affected by Bardet-Biedl syndrome. These resources will provide young people with the tools to become their own advocates in arenas such as healthcare and education.

Barth Syndrome Trust (2016)

Barth Syndrome Trust

Barth syndrome is a rare, life-threatening genetic disorder that affects boys. Affected children have an enlarged and weakened heart, which means they are at risk of sudden cardiac arrest, suffer from muscle weakness and extreme fatigue, experience feeding and growth problems, and have recurrent infections owing to low levels of white blood cells.

Our grant will help fund an outdoor activity weekend designed especially to encourage boys with the syndrome to take part in activities they may never have had the opportunity to try before.

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Cure & Action for Tay Sachs (2016)

Cure & Action for Tay Sachs

Tay-Sachs and Sandhoff disease are fatal genetic disorders that prevent the breakdown of harmful waste products in the brain, causing irreparable damage to the nervous system. An affected child will suffer progressive deterioration of mental and physical abilities until they are dependent on 24-hour care. Sadly, a child diagnosed with Tay-Sachs or Sandhoff disease will rarely live beyond the age of four.

Our grant will fund the creation of an illustrated children’s book for the siblings of affected children to explain about their brother or sister’s condition and why they will live a much shorter life.

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Dravet Syndrome UK (2016)

Dravet Syndrome UK

Dravet Syndrome is an intractable form of epilepsy. This rare genetic disorder is life-limiting, affected children may experience behavioural and developmental delay, autism; speech and language difficulties; balance and mobility issues; and chronic sleep disturbance.

Our grant will help fund the development of a new website for Dravet Syndrome UK. The website will provide advice and information for families and medical professionals, and will be accessible on any type of device.

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Ectodermal Dysplasia Society (2016)

Ectodermal Dysplasia Society

Ectodermal dysplasias are a group of over 170 genetic disorders that affect the development and function of the skin, teeth, hair, nails and glands, including sweat glands, tear glands, mucous glands and saliva glands. Affected children are at a constant and serious risk of overheating; experience frequent nasal, ear, eye and respiratory tract infections; and require specialised dental, eye, ENT and dermatological care.

Our grant will help fund the creation of a set of guides for families on applying for Education, Health and Care Plans, a Blue Badge and benefits, including Disability Living Allowance.

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Fragile X Society (2016)

Fragile X Society

Fragile X syndrome is the most common inherited genetic disorder causing learning disability. Children living with Fragile X typically experience developmental delay, anxiety and hyperactive behaviours, and may face lifelong challenges with communication and social interaction.

Our grant will fund the development of a series of short educational films for parents of children newly diagnosed with Fragile X, to help them better understand the condition and how to support their child.

Funny Lumps (2016)

Funny Lumps

Neurofibromatosis is a genetic disorder that causes tumours to form on nerve tissue. Affected children may suffer from hearing loss and visual impairment, skeletal and mobility problems, cardiovascular and neurological concerns, and may experience severe pain.

Our grant will be put towards the cost of a weekend of workshops for families in Scotland that will help parents better understand the condition and offer them the chance to meet and learn from other parents of affected children.

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Myaware (2016)

Myaware

Congenital myasthenic syndrome is a neuromuscular genetic disorder characterised by muscle weakness that worsens with physical exertion. Affected children may experience mobility issues, owing to weakness in the skeletal muscles; problems eating, owing to weakness in the muscles used for chewing and swallowing; and problems controlling facial movement, owing to weakness in the facial muscles and muscles controlling the eyes and eyelids.

Our grant will fund a weekend activity programme for children that will encourage them to try new experiences and forge friendships with others affected by the condition.

Myhre Syndrome Support Group (2016)

Myhre Syndrome Support Group

Myhre syndrome is a very rare genetic disorder that affects many systems and functions of the body. Affected children experience developmental delay and learning disability; display features of autism, which affect their communication and social interaction; suffer from hearing loss, heart and eye abnormalities and a constriction of the throat; experience a stiffness of the skin, causing joint problems and limiting mobility; and are of short stature.

Our grant will help fund the creation of the first patient group in the world dedicated to supporting families affected by Myhre syndrome

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Newlife (2016)

Newlife

Newlife is the UK’s largest charity funder of specialist equipment for disabled children. Every year, Newlife is given a grant from the proceeds of Jeans for Genes Day to provide essential equipment for children in need who are affected by a genetic disorder.




Noonan Syndrome Association (2016)

Noonan Syndrome Association

Noonan syndrome is a genetic disorder that can cause a wide range of health problems and distinctive features. Affected children may suffer from heart abnormalities and epilepsy, delayed intellectual development and behavioural problems, delayed puberty and short stature, and they often display distinctive facial features.

Our grant will fund play sessions at a family day aimed at encouraging children to express themselves and build their self-esteem through creative activities.

Norrie Disease Foundation (2016)

Norrie Disease Foundation

Norrie disease is a rare genetic disorder that causes dual sensory impairment in boys. Affected children are born blind or go blind very early in infancy, while progressive hearing loss can start as early as five years of age. Half of boys affected also experience developmental delays and learning difficulties.

Our grant will help fund the creation of the first patient group in the UK dedicated to supporting families affected by Norrie disease. 

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Prader-Willi Syndrome Association UK (2016)

Prader-Willi Syndrome Association UK

Prader-Willi syndrome is a complex genetic disorder that affects many parts of the body. Affected children live with weak muscle tone, delayed physical and emotional development, and a constant and overwhelming feeling of hunger which, if not controlled, will lead to chronic overeating and life-threatening obesity.

Our grant will help fund the development of training materials for teachers and staff within schools who are supporting a child with Prader-Willi syndrome.

PURA Syndrome UK (2016)

PURA Syndrome UK

PURA syndrome is a recently discovered neurodevelopmental genetic disorder. Affected children experience developmental delay; , have little or no speech, suffer from seizures and non-epileptic movements, and display low muscle tone and respiratory difficulties.

Our grant will fund the first ever patient support day for families whose children have been diagnosed with PURA syndrome.

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Rett UK (2016)

Rett UK

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.

Our grant will fund a series of training workshops for parents to help them manage the needs of all the family, including siblings, when there is a child with Rett syndrome at home. The workshops will also provide parents with the skills to help each other through a parent-to-parent network.

Ring 20 Research and Support UK (2016)

Ring 20 Research and Support UK

Ring chromosome 20 syndrome is a neurological genetic disorder that causes epilepsy. Affected children suffer from multiple seizures that are often prolonged and difficult to treat as they are resistant to anti-epileptic drugs. The children also experience learning disability and behavioural difficulties.

Our grant will fund a family conference, where parents will attend workshops led by specialists in the fields of paediatric neurology, epilepsy and genetics to learn how best to care for their child.

Rubinstein-Taybi Support Group (2016)

Rubinstein-Taybi Support Group

Rubinstein-Taybi syndrome is a genetic disorder that is characterised by intellectual disability and an increased risk of developing cancerous tumours and blood cancer. Affected children are of short stature; experience learning difficulties; and can have eye abnormalities, and heart and kidney defects.

Our grant will help fund a crèche and activities for affected children and their siblings during the organisation’s family conference.

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Teddington Trust (2016)

Teddington Trust

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

Our grant will fund the purchase of a stock of specially made gloves and hats with visors that completely protect children’s skin from ultraviolet light and which will be distributed to all families who have an affected child.

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Whitby Hidden Impairments Support & Help Group (2016)

Whitby Hidden Impairments Support & Help Group

Whitby Hidden Impairments Support & Help Group is a voluntary organisation for parents in the Whitby and District area who care for children with a hidden impairment. The aims of the organisation are to reduce the isolation of affected families and provide positive and accessible leisure, cultural and sporting activities for the children.

Our grant will fund a 12-month programme of activities that will encourage the children to learn new skills and increase their confidence and self-esteem.