Previous grant recipients

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48,XXYY Family Support Group (2014)

48,XXYY Family Support Group

48,XXYY syndrome is a genetic disorder that affects only boys. The condition is characterised by a combination of symptoms, including developmental delays, speech impairment, learning disabilities and anxiety disorders.

2014 - Our grant funded the launch conference of the 48,XXYY Family Support Group to bring together affected families from around the UK to create a body of knowledge on 48,XXYY syndrome and a network of support for the children and their families.

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AKU Society (2013)

AKU Society

Alkaptonuria (AKU) is a rare and excruciating degenerative disease, resulting from an accumulation of a toxic black substance in the body. There is still no known cure for this disease and children affected by AKU have to face a severe and early-onset of osteoarthritis quickly leading to agonising pain in the joints as well as black urine, and black spots in the eyes, heart and kidneys.

2013 - Our grant funded an interactive information day for families affected by this distressing condition, helping them to engage with others to increase understanding of the condition and develop a greater sense of community.

ALD Life (2011)

ALD Life

Adrenoleukodystrophy (ALD) is a rare, neurological genetic disorder that mainly affects young boys. Boys who have previously appeared healthy develop progressive brain damage, quickly lose all function and can die within a year of being diagnosed.

2011 - Our grant paid for four children affected by ALD and their families to attend the charity’s Weekend Get Together and Information Day, vital for providing advice and support to families facing this challenging condition.

A-T Society

A-T Society

Ataxia-Telangiectasia (A-T) is a rare and degenerative genetic disorder. It affects a number of different systems in the body, including the ability to control and coordinate movement, and the efficiency of the immune system. Affected children lose motor skills and require a wheelchair by the age of ten. They are also susceptible to frequent and serious infections.

2015 - Our grant helped fund the salary of a part-time family support worker to assist families whose children have had a diagnosis of A-T.

Alstrom Syndrome UK (2013)

Alstrom Syndrome UK

Alstrom syndrome is an extremely rare genetic condition which causes severe visual impairment and can cause heart failure, progressive blindness, hearing loss, obesity, diabetes, kidney and liver failure. The condition can potentially affect every organ in the body.

2013 - Our grant funded the development of an information DVD 'Living with Alstrom Syndrome' that was produced in a range of languages and provided families with the crucial, key information that they need to understand this complex condition.

Amy and Friends (2012)

Amy and Friends

Cockayne syndrome (CS) is a rare premature ageing disorder that leads to a shortened life expectancy. Children with CS are affected by slow growth and premature ageing, which include problems with sight and hearing, sensitivity to sunlight and progressive degeneration of the nervous system.

2012 - Our grant funded a range of sensory equipment for children affected by this condition, enhancing their senses and providing families with a way to engage with their child who might otherwise have limited ways to interact.

Ataxia UK (2011)

Ataxia UK

Ataxia is the name given to a group of progressive genetic disorders that are caused by a dysfunction of the nervous system. Affected children initially experience clumsiness and problems with their balance and coordination. Over time they lose their ability to walk, speak and even swallow. Ataxia ultimately causes total physical disability and death.

2015 – Our grant funded the development of a series of webcasts for the approximately 3,000 affected children and young people in the UK as part of a peer-to-peer programme to help them cope with their diagnosis and do all that they can to stay healthy for as long as possible.

2011 - Ataxia UK used our grant to produce a booklet and film for teenagers, and a leaflet for parents and carers of children with ataxia, providing essential support to those affected by the condition.

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Bardet Biedl Support UK (2014)

Bardet Biedl Support UK

Bardet-Biedl syndrome is a rare genetic disorder that impacts on many parts of the body. Affected children suffer from vision loss leading to blindness; become obese; have kidney abnormalities, which can be life-threatening; experience developmental delay; and have difficulties with learning, speech and language, and balance and coordination.

2014 - Our grant funded the salary of a child development worker who helps families secure the help they need from schools and social services to enable their child to live as fulfilled a life as possible.

Bath Opportunity Pre-School (2014)

Bath Opportunity Pre-School

Bath Opportunity Pre-School is an Ofsted-rated ‘outstanding’ pre-school that provides educational and therapeutic services for children with additional needs. Speech and language therapy is an integral part of the school’s curriculum that aims to help each child communicate to the best of their ability with either words or sign language.

2014 - Our grant funded the salary of a speech and language therapy assistant who supports children at the school who are affected by a genetic disorder. 

Batten Disease (2012)

Batten Disease Family Association

Batten disease, which is also known as neuronal ceroid lipofuscinosis, is a devastating neuro-degenerative disorder. Children who are born apparently healthy develop epilepsy, lose the ability to walk and talk, become blind and succumb to dementia, dying prematurely.

2012 - Our grant funded a weekend of seminars and workshops led by scientists and medical professionals for parents whose children are affected by this terminal disease.

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Cardiac Risk in the Young (2013)

Cardiac Risk in the Young

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.

2013 - Our grant funded a tour of leading cardiac hospitals as part of the charity’s “myheart” outreach programme, working to raise awareness of these heart conditions and the services offered through CRY.

2011 - Our grant allowed Cardiac Risk in the Young to run regional meetings that supported young people recently diagnosed with a cardiac condition. 

Cardiomyopathy UK

Cardiomyopathy UK

Cardiomyopathy UK is a genetic disorder that affects the heart muscle. When a child is first diagnosed, their family can feel very overwhelmed. The family needs help understanding the implications of the diagnosis with regards to potential treatments, including surgery, and the day-to-day limitations their child must accept living with the condition. Parents also need guidance on helping their child come to terms with their diagnosis and managing their self-esteem.

2015 - Our grant helped fund the salary of a Children and Young People Officer to liaise with the families of affected children and provide essential information and support.

Caring Matters Now (2014)

Caring Matters Now

Congenital melanocytic naevus (CMN) is a disfiguring skin disorder that causes the growth of a single dark brown mole, which can cover up to 80 per cent of the body, and hundreds of smaller moles on a single child. Children affected by CMN can suffer a great deal of distress as a result of the unwanted attention these moles attract when visible.

2014 - Our grant funded a family activity weekend that gave affected children the opportunity to make friends and build their self-esteem and confidence in a safe and private environment.

2011 - Our grant paid for Caring Matters Now’s first family activity weekend, which included an afternoon when children affected by CMN went for a swim without any of the anxiety associated with using public pools.

CHARGE Family Support Group

CHARGE Family Support Group

CHARGE syndrome is a rare genetic disorder that affects many different parts of the body. Children with CHARGE may be born with severe eye deformities, heart defects, blockages of the nasal passages that cause severe breathing difficulties, a delay in growth and development, and deafness.

2015 – Our grant helped fund a children’s club during the 2016 family conference that allowed parents to network and attend presentations by experts in CHARGE syndrome, in the knowledge that their child was being cared for by someone who understood their complex medical and social needs.

Child Growth Foundation

Child Growth Foundation

There are more than 200 genetic disorders that can cause a child to grow much taller or shorter than their peers. Children affected by growth disorders can have serious long-term problems with their spine, joints and mobility, and some may also experience learning difficulties and psychological problems.

2015 – Our grant funded a special needs crèche for affected children at the annual convention, allowing parents to attend lectures and participate in group discussions in the knowledge that their child was being cared for in a safe, supportive environment.

Childhood Tumour Trust

Childhood Tumour Trust

Neurofibromatosis (NF) is the name given to a group of genetic disorders that are characterised by the growth of tumours around nerves and other tissues, and in the brain. Affected children can suffer from severe pain and disability as a result of nerve compression. They can lose their sight, their hearing and their mobility, depending on which nerves are impacted, and when tumours form in the brain, children can experience learning difficulties.

2015 – Our grant funded a PGL activity weekend to bring together affected children and young people, many of whom had never met anyone else with NF, to help forge friendships and boost each child’s confidence and self-esteem.

The Children’s Trust

The Children’s Trust

Rett syndrome is a rare neurological disorder which most often affects previously healthy girls between their first and second birthdays. Affected children initially lose speech, hand skills and often the ability to walk. Ultimately, they experience profound and multiple physical and learning disabilities and require life-long 24-hour care. The Children’s Trust is a national residential specialist centre for children with brain injury.

2015 – Our grant funded a music therapy course for girls with Rett syndrome at the centre as part of a multisensory curriculum that aimed to develop the girls’ communication and social interaction skills

Chromosome 18 Europe (2014)

Chromosome 18 Europe

Genetic disorders caused by abnormalities on chromosome 18 are very rare. Affected children may have developmental delays, neurological problems, vision or hearing problems, heart defects, or a combination of these symptoms.

2014 - Our grant funded crèche facilities at the 2014 European conference that was attended by many of the children and families affected by chromosome 18 abnormalities in the UK. The knowledge that their children are being cared for in a safe and understanding environment allowed parents to attend workshops on the latest research and specific elements of their child’s condition.

Ciliopathy Alliance (2012)

Ciliopathy Alliance

Ciliopathies are multi-systemic genetic disorders caused by dysfunctional or defective cilia. These rare and complex syndromes affect most organs of the body, causing kidney and liver disease, obesity and diabetes, mental retardation, blindness, deafness, chronic respiratory infections, infertility and skeletal malformations.

2012 - Our grant funded the first national conference for those affected by this group of conditions. Families were updated on the latest research and clinical practices, and were invited to help develop strategies for improving patient care.



Charcot-Marie-Tooth disease (CMT) is a progressive neurological genetic disorder that damages the peripheral nerves which run from the spinal cord to muscles in the arms and legs. Nerve damage causes the muscles in the foot, lower leg, hand and forearm to waste, and affected children experience difficulties with walking, keeping their balance and controlling hand functions. They also suffer from pain and numbness.

2015 – Our grant funded a family conference, where affected children were encouraged to interact and talk about their experience of CMT, while parents attended workshops led by medical professionals, including neurologists, physiotherapists and orthotists.

Cure & Action for Tay-Sachs (CATS) Foundation (2014)

Cure & Action for Tay-Sachs (CATS) Foundation

Tay-Sachs and Sandhoff disease are genetic disorders that prevent the breakdown of harmful waste products in the brain, causing damage to the brain’s nerve cells. An affected child will suffer progressive deterioration of mental and physical abilities and will rarely live beyond the age of five.

2014 - Our grant funded the development of an information pack, including a DVD, which can be given to families in which a child has recently been diagnosed with Tay-Sachs or Sandhoff disease, to help provide answers to the questions that parents and extended family have after a diagnosis.

Cystic Fibrosis (2012)

Cystic Fibrosis Trust

Cystic fibrosis (CF) is one of the most common genetic disorders in the UK. The lungs and digestive system of children with CF can become clogged with thick, sticky mucus resulting in infections and inflammations in the lungs, that cause difficulty breathing and digesting food. If the lungs become very damaged, then a transplant is required.

2012 - Our grant funded a short film for teenagers with CF, helping them to learn how to deal with the condition and encouraging them to take responsibility for their own health. For further information go to: 

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Diamond blackfan anaemia is a rare bone marrow failure disorder. Affected children fail to produce red blood cells properly, impacting on their growth and causing severe fatigue. To stay healthy and well they need treatments ranging from monthly blood transfusions to regular steroid treatment, and in some cases bone marrow transplantation.

2015 – Our grant funded a family conference, where parents were able to attend group and 1-2-1 sessions with expert clinicians to gain vital understanding of their child’s condition and how they could improve their quality of life.

Deafblind Scotland (2011)

Deafblind Scotland

Over 80 members of Deafblind Scotland have Usher syndrome, a genetic disorder which causes loss of hearing and then later loss of vision. The loss of vision for children who are already deaf can be a devastating experience for both the child and the family.

2011 - Our grant paid for a project worker to train peer mentors in how to support these young people and inspire them for the challenges ahead.

Deafness Research UK (2011)

Deafness Research UK

Deafness among the Bangladeshi population in the London Borough of Tower Hamlets is up to six times the national average. These deafness rates are of great concern for the community.

2011 - Deafness Research UK has used our grant to research the genetic causes of deafness within the Bangladeshi community, helping to better understand the reasons why the number of cases is so high.

DEBRA (2014)


Epidermolysis bullosa (EB) is a group of rare genetic disorders that make the skin very 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.

2014 - Our grant helped fund the first residential weekend for families affected by EB, allowing children and parents to meet each other and hear from medical professionals, in an environment that can care for the needs of each child owing to the support of specialist EB nursing staff.

Dravet Syndrome UK (2014)

Dravet Syndrome UK

Dravet syndrome is a life-threatening and life-limiting neurological genetic disorder that causes severe and difficult-to-control seizures alongside developmental delay, learning disability and other issues such as mobility and speech complications. Children affected by Dravet syndrome often have seizures that last hours, and the longer a seizure, the higher the likelihood the child will experience brain damage. Many families affected by Dravet syndrome are unable to go on holiday without the necessary medical support on standby.

2014 - Our grant helped fund a family weekend away in an environment that is prepared for the serious medical issues that may arise for these children. For further information, visit 

DSD Families (2013)

DSD Families

DSD (Differences/Disorders of Sex Development) is a group of conditions that affect the reproductive and genito-urinary development of a baby in the womb. Children can have sex chromosomes and an internal and/or external genital anatomy that are unexpected for a boy or a girl. This does not usually affect their health; however, parents face challenges with how to raise their children, protect them from feeling isolated and teach them life skills needed to deal with their specific challenges.

2013 - Our grant funded a series of one and two day workshops for children and families in the UK affected by a DSD, to educate, inform and critically, to help build self-esteem.

2012 - Our grant funded the further development of, a new website that was launched in 2011 to provide vital information and advice for UK families affected by a DSD.

Dwarf Sports Association (2013)

Dwarf Sports 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. Competing in sport on an equal footing can be a great help in overcoming this.

2013 - Our grant helped to fund the 2013 National Dwarf Games for over 130 athletes from across the UK, including children from as young as 3 to 16 years old.

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Ectodermal Dysplasia Society (2011)

Ectodermal Dysplasia Society

Ectodermal dysplasias are a group of over 150 genetic disorders which affect the development or function of sweat glands, skin, teeth, hair and nails. Children with the condition experience overheating and frequent infections, and require specialised dental and dermatological care.

2011 - Our grant allowed the Ectodermal Dysplasia Society to move out of the founder’s home into new premises, so that the charity could be set up to support its members in the long term. 

Ehlers-Danlos Support UK (2014)

Ehlers-Danlos Support UK

Ehlers-Danlos syndrome is a genetic disorder caused by a defect in collagen that affects the connective tissue in the body. Affected children suffer problems with their joints, skin and organs, and often live a life defined by chronic pain and fatigue.

2014 - Our grant funded a programme of arts activities for affected children and their siblings during a residential weekend for families. While the children were entertained, parents were able to attend seminars from medical professionals on the latest research, recommendations for treatment and the care of affected children.

2012 - Our grant funded the children’s entertainment and supervision at a residential conference, enabling parents to attend sessions led by medical professionals whilst their children were being cared for in a safe and enjoyable environment.

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Families United (2014)

Families United

Families United is a charity based in Warrington, Cheshire, which offers a range of services and activities for children with learning and sensory disabilities. The charity aims to reduce the social isolation and loneliness experienced by families with a disabled child by organising inclusive activities for the whole family.

2014 - Our grant funded 12 monthly activities, such as a trip on a narrow boat or a residential break at a farm, for those families with a child affected by a genetic disorder.

2012 - Our grant funded a monthly series of activities as part of the charity’s F.UN Kidz on the Move project. These activities included adaptive skiing and snowplay sessions, closed family swimming sessions and visits to a space centre.

FOP Action (2013)

FOP Action

FOP (Fibrodysplasia Ossificans Progressiva) is an extremely rare and devastating condition, affecting only one in two million. Bone forms in muscles and other soft tissues of the body, restricting movement. Children affected by FOP gradually lose their range of movement as their muscles, tendons and ligaments calcify. The life expectancy of children affected by FOP is reduced as bone eventually grows around the lungs, affecting breathing.

2013 - Our grant funded the first family symposium, enabling families affected by FOP from all corners of the UK to benefit from vital medical advice, consultation and support from specialist medical professionals. This weekend also provided families with a unique opportunity to share knowledge and experience with each other and develop new lifelong friendships.

FOP Friends (2014)

FOP Friends

Fibrodysplasia ossificans progressiva (FOP) is one of the world’s rarest genetic conditions, affecting just one in 2 million people. A child with FOP progressively experiences their muscles, ligaments, tendons and connective tissues turn to bone, and over time their healthy mind becomes locked inside a frozen body. Knocks, bumps and childhood immunisations can trigger bone growth and there is no known treatment or cure.

2014 - Our grant funded the salary of a charity support assistant who relieves trustees of some of the everyday administration tasks and provide a focused effort on raising awareness and funds to grow the charity’s reach and impact.

Foyle Down Syndrome Trust (2014)

Foyle Down Syndrome Trust

The Foyle Down Syndrome Trust was formed by local parents of children with Down’s syndrome when they believed that more could be done to develop the potential of their children. They wished to integrate them into the local community and in doing so educate the community as to their children’s capabilities.

2014 - Our grant funded a programme of speech and drama workshops for children with Down’s syndrome and their siblings, culminating in a public performance of two short plays at the Waterside Theatre in Derry.

2012 - Our grant funded a year’s salary for a Social Development Outreach Officer at the Foyle Down Syndrome Trust in Northern Ireland to develop a social programme for children and their parents affected by the condition. This included activities such as sailing, the Duke of Edinburgh award scheme, arts and crafts classes, and supervised weekends away.

The Fragile X Society (2014)

The Fragile X Society

Fragile X syndrome is the most common known cause of inherited learning disability in boys. Affected boys experience developmental delay, difficulties with social interaction, as well as emotional and behavioural problems.

2014 - Our grant funded the updating of a guide for families, teachers and other professionals who want to understand Fragile X syndrome and how to cope with its effects.

2012 - Our grant funded the development of an educational needs booklet for families and for teachers who have a child with fragile X in their class, with the aim of helping affected boys to reach their potential.

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The Haemophilia Society (2012)

The Haemophilia Society

Haemophilia is a hereditary bleeding 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.

2012 - Our grant funded an activity weekend for children and young people affected by this condition. The presence of qualified medical staff meant that children were able to experience a level of independence that they would not normally enjoy, and they were given the opportunity to make new friends and learn about living with and self-managing their condition.

Headlines (2013)


Craniosynostosis is a condition where the skull sutures (seams) fuse prematurely, causing severe disfigurement and difficulties with learning, vision and breathing. Hands and feet can also be affected and it can be fatal. The combination of rarity and disfigurement often leads those affected to feel extremely isolated.

2013 - Our grant funded the charity’s first book especially for children under 8 years old, to include friendly and engaging illustrations and a tactile soft toy, providing children with a gentle introduction to the hospital examinations and surgeries that they will undergo throughout their treatment.

2011 - Headlines Craniofacial Support used our grant to make an educational DVD, featuring affected parents, children and young people, to offer new members information, reassurance and hope for the future.

Henry Tyndale School Association (2014)

Henry Tyndale School Association

Henry Tyndale School in Farnborough, Hampshire, is a special school and among current pupils there are a number of girls affected by Rett syndrome, a genetic disorder that causes multiple and profound physical and learning disabilities. Girls with Rett syndrome lack speech and fine motor control, and therefore find it very difficult to make themselves understood. In the last year, the school has introduced these girls to the Tobii Eye Gaze machine which allows them to use their eye gaze to express preference and make choices. At present the demand is such that the school has to timetable the use of the machine.

2014 - Our grant bought a second Tobii Eye Gaze machine to enable the girls with Rett syndrome to spend the time they need on the machines to increase their ability to communicate effectively. 

Herefordshire Learning Disability Trust (2011)

Herefordshire Learning Disability Trust

Herefordshire Learning Disability Trust is based at a special school in Hereford that has pupils with a variety of genetic disorders.

2011 - Our grant allowed 17 children with genetic disorders and 13 able-bodied young people to attend a summer club offering a wide spectrum of sporting and arts and crafts activities, providing a fun-filled week for the children as well as respite for parents. 


Huntington's Disease Association

Huntington’s disease is a genetic disorder that affects the central nervous system. It causes a progressive degeneration of the cells in the brain, 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 still a child.

2015 - Our grant helped fund the salary of a care adviser for those children affected by juvenile Huntington’s disease. The care adviser’s role is to both identify services for affected children and liaise on behalf of the family with health and social care professionals.

2013 - Our grant funded the 2013 juvenile Huntington’s disease weekend, offering families an opportunity for discussion, socialising and much-needed respite.

2012 - Our grant funded a summer camp for these child carers, enabling them to meet others in a similar situation to their own, share experiences and enjoy some time for themselves away from the demands of home.

2011 - Our grant funded a juvenile Huntington’s disease family weekend to help young people and their families meet others affected by the disease and talk to experts.

Hypermobility Syndromes Association (2014)

Hypermobility Syndromes Association

The Hypermobility Syndromes Association works on behalf of people with a range of genetic disorders that affect the connective tissues. Children with these conditions may suffer chronic pain, injuries, fatigue and complex multi-systemic problems. There is a lack of specialist hypermobility clinics in the UK and only one rehabilitation programme for children.

2014 - Our grant funded a masterclass programme for parents and children that taught attendees how to manage the pain and fatigue on an ongoing basis, how to exercise safely in order to maintain mobility, and when and how to engage medical professionals.

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Ichthyosis Support Group (2014)

Ichthyosis Support Group

Ichthyosis is a rare genetic disorder that causes the skin to scale and shed. Affected children look visibly different from others and have to follow strict bathing and creaming routines, often for several hours a day, to prevent their skin from drying and cracking.

2014 - Our grant funded a residential summer camp for children with ichthyosis that focused on personal development and building each child’s self-esteem in an environment where they felt safe and secure to have fun.

2011 - Our grant funded the Ichthyosis Support Group 2011 conference, where families came together to listen to talks given by dermatology specialists, have one-to-one appointments with experts and meet other affected families.

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Jeune Syndrome Foundation

Jeune Syndrome Foundation

Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop. Affected children have a form of dwarfism and may experience life-threatening breathing complications in infancy due to a smaller and narrower rib cage that restricts the expansion of the lungs. They may also develop serious kidney and liver problems.

2015 – Our grant funded the first family conference for those affected by Jeune syndrome, providing families with an opportunity to meet each other and hear from medical professionals and patient experts about how best to manage the condition.

Jnetics (2013)


The Jewish community is affected disproportionately by genetic disorders, such as Tay Sachs Disease, compared with the general population as a whole. Jnetics is dedicated to improving the prevention, diagnosis and management of Jewish genetic disorders in the UK.

2013 - Our grant funded a diagnostic and support signposting toolkit which will be invaluable in providing healthcare and welfare professionals with key information in a targeted and accessible way to help them to best support their patients’ needs.

2011 - Our grant was used to develop a referral service and raise awareness about genetic disorders within the Jewish community.

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The Legacy Rainbow House (2012)

The Legacy Rainbow House

The Legacy Rainbow House specialises in providing services for children with brain injuries, disabilities and life limiting conditions. This includes children affected by different genetic conditions such as Angelman Syndrome, Ataxia and Williams Syndrome.

2012 - Our grant helped the organisation to provide a needs-led service enabling children affected by genetic conditions to be cared for in a class that is tailored more specifically to their needs.

The Lily Foundation

The Lily Foundation

Mitochondrial disease occurs when the mitochondria that are responsible for producing the energy the cells in our bodies need to function do not work properly, and this can affect the development and functioning of areas in the body such as the brain, heart, liver and kidneys. Affected children often experience multiple and serious physical and learning disability, and a significant number die in infancy.

2015 – Our grant funded a weekend conference, where families had the opportunity to attend information and support sessions led by medical and counselling professionals, and befriend other affected families.

Little People UK

Little People UK

There are more than 200 genetic disorders that cause dwarfism. Children with dwarfism can encounter a range of medical conditions, including spinal stenosis (requiring surgery), mobility issues, hydrocephalus and joint pain.

2015 – Our grant funded a residential weekend for families, where affected children were encouraged to take part in a range of activities designed to build self-confidence and help them make new friends.

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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, seizures, a compromised immune system, speech and language delay, learning difficulties and mental health problems.

2015 - Our grant funded a workshop for parents during which professionals from health, education and service providers spoke about how parents could best help their child to get the most out of life.

2012 - Our grant funded six parent/professional focus groups that were organised to review a best practice document about the treatment and management of these conditions. This consensus document will be used in the future to ensure that affected families are offered the best possible advice, information and support when they need it.

Micro and Anophthalmic Children’s Society (2014)

Micro and Anophthalmic Children’s Society

The Micro and Anophthalmic Children’s Society supports children who are born with no eyes (anophthalmia), small eyes (microphthalmia) or part of their eye structure missing (coloboma). As well as experiencing problems related to lack of sight, children affected by these genetic disorders can also have symptoms related to brain development, such as learning difficulties and behavioural problems.

2014 - Our grant funded a sailing trip for a group of visually impaired children that allowed them to improve their independent living skills, their social interaction skills and their overall confidence and self-esteem.

Muscular Dystrophy Campaign (2011)

Muscular Dystrophy Campaign

Congenital myasthenic syndrome (CMS) is a genetic disorder that is caused by problems in the signalling between the nerves and the muscles. Children affected by CMS experience breathing difficulties and delays in sitting, crawling and walking, and one in six affected children die in infancy.

2011 - Our grant was used by the Muscular Dystrophy Campaign to contribute to the understanding of muscle function in order to improve the treatment and management of CMS.

Myasthenia Gravis Association (2011)

Myasthenia Gravis Association

Myasthenia gravis is a genetic condition in which the immune system attacks itself, weakening the voluntary muscles that control the eyes, face, throat, limbs and muscles that help us breathe. Around 200 children in the UK have a similar condition called congenital myasthenic syndrome, which affects muscle strength.

2011 - MyasthenicKids, the national children’s branch of the Myaware, used our grant to research a clinical assessment tool for monitoring levels of weakness in children with myasthenia.

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NBS Support Group UK (2014)

NBS Support Group UK

Nicolaides–Baraitser syndrome (NBS) is a very rare genetic condition affecting just 15 children in the UK. Children with NBS experience developmental delay, have unusual facial features and abnormalities of the limbs. Many affected children also have autistic traits and epileptic seizures. The medical profession has very little information about NBS and so parents rely heavily on their relationships with each other for support as their child grows.

2014 - Our grant funded a weekend conference for affected families and medical experts that aimed to increase everyone’s knowledge of NBS and how the disorder progresses over time, help parents best care for their child’s needs and strengthen the parental support network.

2012 - Our grant funded a meeting between affected families and medical experts that enabled all to learn about the challenges of living with this very rare syndrome.

2011 - Our grant helped a father whose son has the condition to bring together for a weekend the families that are known to date to be affected by this disorder.

Neuro Foundation (2012)

Neuro Foundation

Neurofibromatosis (NF) is the term for a group of conditions that mainly affect the nerve tissue endings and the skin, causing multiple tumours to grow. The severity of NF can affect children in different ways. Large benign tumours can grow affecting their sight, hearing and mobility, cause speech problems and curvature of the spine. Tumours may cause bumps under the skin, skeletal problems and a range of neurological problems.

2012 - Our grant funded a telephone helpline, managed by a specialist adviser, that provided advice and support for this complex condition to families across the UK.

2011 - A group of parents of children affected by neurofibromatosis organised a PGL activity weekend to bring their children together with the aim of boosting their self-confidence and encouraging them to make friends.

The Neuromuscular Centre

The Neuromuscular Centre

Muscular dystrophies (MD) are a group of inherited genetic disorders that over time cause the muscles to weaken and waste. Children affected by a muscular dystrophy lose the ability to walk and use their arms, and so they are reliant on a powered wheelchair to get around and 24/7 personal care.

2015 – The Neuromuscular Centre is nationally recognised as a centre of excellence for those with MD and our grant funded a programme of activities for affected teenagers, including a holiday course on bush craft and forestry skills, an introduction to employment skills and training, and physiotherapy sessions.

The Newlife Foundation for Disabled Children (Newlife)

The Newlife Foundation for Disabled Children (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 monies raised on Jeans for Genes Day to provide equipment for families affected by a genetic disorder who contact Newlife seeking assistance.

Niemann-Pick Disease Group (2013)

Niemann-Pick Disease Group

‘Niemann-Pick’ is a group of rare, life-limiting genetic conditions with no cure, resulting from an accumulation of cholesterol and other fatty acids in the body. Children affected by Niemann-Pick diseases can often quickly lose all motor skills and learning ability and face a limited life expectancy.

2013 - Our grant funded an interactive learning experience for children affected by Niemann-Pick diseases, through fun and sensory learning and play using the latest technology in multi-purpose computer tablets and learning apps.

North Argyll Carers Centre (2014)

North Argyll Carers Centre

North Argyll Carers Centre supports unpaid carers throughout North Argyll and the islands in Scotland and runs a parent carers group for parents with a disabled child.

2014 - Our grant funded a support group for parents caring for a child with a genetic disorder, providing members with access to support and advice on subjects such as benefits and housing, respite care and stress relief. The group also provides the opportunity for families in remote locations to come together and meet and share experiences with others in a similar situation to themselves.

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Oily Cart (2013)

Oily Cart

Oily Cart is one of the UK's leading theatre companies creating multi-sensory interactive performances for very young children and young people with profound and multiple learning disabilities and young people with an autistic spectrum disorder. The young people who participate in Oily Cart productions are affected by a range of genetic conditions including Reye’s syndrome, Down’s syndrome, Lejeune’s syndrome.

2013 - Our grant funded the charity’s next production called ‘Tube’ involving a colourful, tactile ‘wonderland’ using specialised, multi-sensory techniques inviting audience members into a world of learning and imagination.

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Pakistan Advice and Community Association (2012)

Pakistan Advice and Community Association

Consanguineous marriage, the practice of marrying close relatives, is a celebrated tradition in many cultures. Unfortunately, while the risk of passing on an inherited disorder is around 2% in the general population, this rises to around 6% in populations that favour cousin marriage.

2012 - Our grant funded the Pakistan Advice and Community Association, based in Sheffield, to undertake ground- breaking research within the Pakistani community in Sheffield. The aim of this research was to develop effective information and support materials for families, and training programmes for community-based staff, to help raise awareness of the link between genetic disorders and consanguineous marriage.

PARC Essex (2013)

PARC Essex

PARC Essex is a charity and support centre offering families in Essex a range of services, monthly events and activities for children, alongside their families, with profound and sensory disabilities. This includes children affected by different genetic conditions such as Rett syndome, Angelman syndrome and Down's syndrome.

2013 - Our grant helped to fund a holiday play scheme, enabling two full days of sensory activities for children and families, offering opportunities for play and social interaction during the school holidays.

Parents of Partially Sighted and Blind Youngsters (2013)

Parents of Partially Sighted and Blind Youngsters

POPSY is a small Charity supporting families with children who are blind, have special needs and life-limiting conditions, including the very rare, Warburg Micro syndrome (WMS). WMS causes blindness and extremely complex special needs, with affected children unable to eat, sit, walk or talk and in need of 24 hour care.

2013 - Our grant funded the attendance of UK families at a WMS meeting in the USA with the oldest people affected by the condition, helping these families to share knowledge and experiences and giving POPSY the opportunity to record crucial survival and management advice to share with others in need.

PC Project UK

PC Project UK

Pachyonychia congenita (PC) is a rare genetic skin disorder. Children with PC are affected by painful blisters and calluses on their hands and feet, thickened nails, cysts and bumps on their waist, hips, knees and elbows.

2012 - Our grant funded a patient support meeting in the UK for those affected by PC, enabling affected families to learn about the latest developments in research, and get advice from specialist clinicians and other parents about how to help their children live better with the condition.

PCD Family Support Group (2011)

PCD Family Support Group

Primary ciliary dyskinesia (PCD) is a genetic disorder in which microscopic hairs involved in the movement of bodily secretions don’t function properly. It can affect the lungs, nose, sinuses, ears and fertility, making people with PCD prone to recurrent infections and lung damage.

2014 - Our grant funded a family day that hosted presentations on the latest developments regarding the science and treatment of PCD and encouraged networking between affected children and their parents.

2011 - Our grant funded a PCD family support day, giving those affected by PCD the chance to meet others dealing with the same condition, listen to speakers and talk to experts. 

Phelan-McDermid Syndrome Foundation (UK) (2014)

Phelan-McDermid Syndrome Foundation (UK)

Phelan-McDermid syndrome (PMS) is a genetic disorder that affects the transfer of messages within the brain. Most children affected by PMS cannot speak, have autistic-like behaviour and can experience low muscle tone, affecting mobility. Children with PMS require 24-hour care.

2014 - Our grant funded the development of a website for the Phelan-McDermid Syndrome Foundation (UK) that allows the support group to raise its profile among medical professionals and provide information and advice for affected families.

2013 - Our grant funded a family day for the Phelan McDermid Syndrome Foundation in the UK, offering families affected by PMS the invaluable chance to meet and share stories and resources together.

Prader-Willi Syndrome Association (2012)

Prader-Willi Syndrome Association

Prader-Willi syndrome (PWS) is a rare, complex genetic disorder. Children with PWS are challenged by delayed physical and emotional development, learning disabilities and almost constant feelings of hunger, which can lead to excessive and life-threatening obesity.

2012 - Our grant funded specialist crèche facilities at a conference for families affected by the condition, which enabled parents to attend sessions led by medical professionals and scientists to learn more about how to care for their child.

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The Redway School

The Redway School

The Redway School caters for children aged 2–19 with a wide range of learning and physical disabilities. Horse riding is widely recognised as a valuable form of exercise and therapy for disabled children as it develops muscle strength and coordination, and helps build a child’s confidence and sense of achievement. However, some children have such complex genetic disorders that it is not safe for them to ride a real horse.

2015 – Our grant funded a horse riding simulator that became part of the school’s physical education programme, and helped pupils to improve their posture, core strength and walking ability.

Restricted Growth Association (2014)

Restricted Growth Association

There are around 400 genetic disorders that cause restricted growth, also known as dwarfism. Children with restricted growth can encounter a range of medical conditions, including spinal stenosis (requiring surgery), mobility issues, hydrocephalus and joint pain. Affected children also experience name calling, bullying and harassment on a regular basis.

2014 - Our grant funded an activity weekend for children with restricted growth and their siblings. The focus of the weekend was on personal development, with an emphasis on each child’s unique set of needs and abilities, in order to instil a renewed sense of self-belief that helped the children deal with the everyday challenges that they experience as a result of their condition.

2011 - Our grant funded an activity weekend for the Restricted Growth Association that aimed to boost the confidence of young members and encourage them to share their experiences with others.

Rett UK (2013)

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.

2013 - Our grant funded a series of regional family weekend events across the country to help bring the Rett community together, encouraging shared knowledge, new friendships and reduced isolation for families affected by this distressing condition.

2012 - Our grant funded the development of a care pathway, an essential information resource for both families and medical professionals that will contain the accumulated learning about the treatment and management of RS. This will help to ensure that when healthcare providers come across affected children, they are aware of best practice even though they might not ever have come across the disorder before.

2011 - Rett UK used our grant to fund a Family Regional Support Day, helping families to network and meet local professionals.

RNID (2011)


Every day, two babies are born with significant hearing loss in the UK and one in 1,000 is profoundly or severely deaf by the age of three – in at least half of these cases, the cause is genetic. The RNID provides practical support and help to people who are deaf or hard of hearing.

2011 - Our grant allowed five PhD and post-doctoral students to attend a prestigious deafness conference to learn and share information about improving the lives of children affected by deafness.

RTS Support Group (2011)

RTS Support Group

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder affecting one in 100,000 to 300,000 babies. It is characterised by short stature and learning difficulties, and people with RTS may also develop other health issues, such as heart defects and digestive problems.

2011 - Our grant paid for UK members of the RTS Support Group to attend a European conference in the Netherlands, the home of one of the leading international experts on the disorder.

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Usher syndrome is a rare genetic disorder that results in hearing and sight loss, and problems with balance. Affected children are born deaf or become deaf in early childhood and then, as they grow into teenagers, they become progressively visually impaired.

2015 – Our grant funded the development of a support package for families affected by Usher syndrome that identified best practice in the design of individual support plans to build positive self-perception in affected children, as well as webinars to share key information with parents.

Sickle Cell and Young Stroke Survivors (2013)

Sickle Cell and Young Stroke Survivors

Sickle cell anaemia is the most common inherited blood condition primarily affecting people of Afro-Caribbean, Asian and Mediterranean descent. Those affected by sickle cell anaemia experience debilitating pain and often strokes from a very young age. Their limited physical health can have a knock on effect on education, hobbies and acceptance by others.

2013 - Our grant funded the work of the SCYSS Youth Committee in developing guides for primary and secondary schools with pupils affected by sickle cell anaemia.

2011 - Our grant funded two workshops for children who have survived strokes and their families to learn more about how to care for their health in the future.

Smith Magenis Syndrome Foundation (2013)

Smith Magenis Syndrome Foundation

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.

2015 - Our grant funded a children’s crèche during a family educational conference so that parents could focus on presentations and discussions knowing their child was safe and entertained.

2013 - Our grant was used to fund a crèche at the Smith-Magenis Syndrome Foundation (UK) conference weekend, enabling parents to attend all of the valuable sessions in the knowledge that their children are safe and well looked after.

Soft UK (2012)

Soft UK

Trisomy 18 (Edwards’ syndrome) and trisomy 13 (Patau’s syndrome) are genetic disorders that affect foetal development. Around half of babies born with Edwards’ and Patau’s syndrome die within two weeks after birth and less than one in ten celebrates their first birthday. Children that survive for more than a year often require complex medical care.

2015 - Our grant funded a crèche for affected children and their siblings during a family day to allow parents to be supported by professionals and each other following a diagnosis or bereavement.

2012 - Our grant funded the development of a booklet for siblings in families that have lost a child, providing advice for parents on how to approach this sensitive subject with their other children.

2011 - Our grant was used to fund Soft UK’s 21st annual UK family weekend that was attended by parents and affected children together with experts from around the world.

Solihull Down Syndrome Support Group (2014)

Solihull Down Syndrome Support Group

Solihull Down Syndrome Support Group provides a range of services for families who have a child with Down’s syndrome, including information and advice, monthly support group meetings, speech and language therapy, and a variety of clubs and workshops.

2014 - Our grant paid for three projects, including a monthly social group for under 10s, social activities for the over 10s and a family day out for Christmas 2014.

Spinal Muscular Atrophy Support UK (2014)

Spinal Muscular Atrophy Support UK

Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder that causes muscle weakness and progressive loss of movement. It occurs due to deterioration in the nerve cells connecting the brain and the spinal cord to the body’s muscles. SMA type 1 is usually fatal within two years of birth, while children with type 2 and type 3 require wheelchairs and other mobility aids.

2014 - Our grant helped fund the salary of a support services assistant who works with senior members of the support services team, helping them to provide advice and assistance to families affected by SMA.

Sunderland Gateway (2013)

Sunderland Gateway

Sunderland Gateway are a Mencap group focused on supporting young people affected by genetic conditions like Muscular dystrophy, Turner syndrome, Down’s syndrome and achondoplasia, encouraging development and learning through taking part in leadership opportunities and gaining qualifications.

Our grant funded a member of staff to shape an invaluable programme of short apprenticeships, supporting their young members to learn and develop through invaluable apprenticeship opportunities, training and work placements.



Around 30 to 40 per cent of children with a suspected genetic disorder do not have a diagnosis, which means families can find it difficult to get the care and support they need. Without having access to expertise in their child’s condition, families can feel very isolated.

2011 - Our grant funded a part-time coordinator for the support group Syndromes Without a Name (SWAN) to act as a point of contact for families of children with undiagnosed conditions, providing support and information and developing links with health and social care professionals.

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Treacher Collins Family Support Group (2011)

Treacher Collins Family Support Group

Treacher Collins syndrome (TCS) is a genetic condition which affects how bones and other structures in the head and neck develop. Children and teenagers suffering from this condition look different from their peers (they can have characteristic facial features and problems with hearing, breathing and eating) and as a result, can suffer from bullying and feel isolated.

2011 - Our grant helped a young person with TCS make a short film about living with the syndrome, so that the charity could use it as a resource to help others.

TRPS UK (2011)


Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder that causes symptoms including reduced growth, bone and joint problems. Children often have issues at school because they have difficulty holding pens and are frequently absent because of joint pains.

2011 - Our grant allowed TRPS Support Group UK to have its first family day since 2006. It included updates on research, information sharing and signposting to support.

Tuberous Sclerosis Association (2013)

Tuberous Sclerosis Association

Children with Tuberous Sclerosis Complex (TSC) can develop growths (in their brain, heart, eyes, kidneys, lungs or skin), renal problems, severe learning difficulties, epilepsy and behavioural difficulties. On top of these health implications, the complications associated with this condition can be also extremely concerning and frightening for those affected.

2013 - Our grant funded a member of staff to provide direct support and advice to children and families affected by TSC with health services, pre-school services, education, social care, independent living, and welfare benefits. The staff member will liaised and mediated with medical advisors and families.

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UK Children’s Neurological Research Campaign (2012)

UK Children’s Neurological Research Campaign

The UK Children’s Neurological Research Campaign supports research into neurological disorders in children, including many genetic disorders.

2012 - Our grant funded the production of information and fundraising leaflets, and helped to develop the charity’s website, enabling its vital work to be communicated to a range of different audiences.

UK Thalasaaemia Society (2012)

UK Thalasaaemia Society

Thalassaemia are forms of inherited blood disorders. Affected children show signs of anaemia from an early age and depending on the severity and type of the blood disorder, some will need daily medication to combat an overload of iron in their blood while others will need blood transfusions every four weeks.

2012 - Our grant funded the development of two booklets - one for parents of affected newborns, providing them with key information following diagnosis; the other for affected children in an easy to read format containing positive case studies about those living with the condition.

Unique / Rare Chromosome Disorders (2013)


Rare chromosome disorders include those with missing, extra or re-arranged genetic material. Children affected by a rare chromosome disorder can have a variety of symptoms combining physical and learning difficulties, growth and sensory complications, and clinical concerns with hearing, vision, the heart and other internal organs.

2015 - Our grant helped fund a series of regional family days, giving parents the chance to meet each other and create local support networks, learn more about genetic testing and other relevant subjects, all while their children were being cared for and entertained by specialists.

2013 - Our grant was used to fund two regional family events in the North and South of the UK. The ‘Regional Reach Out’ events are invaluable in helping families who are unable to travel great distances to still benefit from the opportunity to meet other families and share experiences and management techniques.

2011 - The charity used our grant to bring RCD families together at a Beating the Isolation family conference with experts including geneticists, paediatricians and psychologists.

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Wolfram Syndrome UK Support Group

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 a teenager, become deaf in their teenage years, develop renal problems in their twenties and neurological complications in their thirties.

2013 - Our grant funded their support and information day for families affected by this debilitating condition. With support from WellChild in organising the day, families were able to attend presentations and receive medical advice and news, attend confidence building sessions and take part in fun and interactive games and activities with other families facing the same challenges and needs.

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