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.
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.
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.
Albinism is a genetic disorder that is caused by a lack of the pigment melanin. Affected childre
n 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.
2016 – Our grant funded 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.
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.
2018 – Our grant funded the creation of books and website content for children and teenagers with ALD. The literature explains the diagnosis and the implications of living with the genetic disorder.
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.
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 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.
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.
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.
2018 – Communication and access to literacy can be a huge challenge for children with AS. Our grant helped fund training days supporting parents who use a communication system called augmentative and alternative communication (AAC). The system ranges from picture or alphabet boards to laptops and tablets which speak and/or produce text.
2016 – Our grant helped to 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.
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.
2018 – Our grant went towards setting up specialist treatment clinics, scientific research, hosting conferences and seminars and creating support networks for the ataxia community.
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.
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.
2016 – Our grant helped to fund the creation of a series of booklets and a workshop developed in collaboration with young people affected by Bardet-Biedl syndrome. These resources provide young people with the tools to become their own advocates in arenas such as healthcare and education.
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.
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.
2016 – Our grant helped to 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.
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, 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.
2017 – Our grant covered the costs for childcare for affected children and siblings at a BDFA family networking weekend. Parents met and provided each other with lasting friendships and support. Coming together from across the country, they had the chance to talk to professionals and attend workshops while their children are well looked after and entertained.
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.
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 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.
2018 – Our grant helped fund a paediatric helpline service staffed by nurses, for young people with cardiomyopathy and the parents of young children who have been diagnosed.
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.
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 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.
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.
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.
2017 – Our grant provided a four-day activity break to a PGL camp for 30 children. This encouraged 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.
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.
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
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.
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.
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.
2016 – Our grant funded 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.
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.
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.
2017 – Our grant funded a family day where parents met the Cure EB team and spent time with Professor John McGrath who is leading groundbreaking research into EB. Children vulnerable to rough play met each other and played safely and families no longer felt alone coping with this difficult condition.
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.
2017 – Our grant helped fund a six-week online course devised by the trust’s Youth Advisory Group and CF experts. The course taught young CF patients essential skills such as managing their own health, balancing CF and life, employability, self-confidence and resilience, equipping them for adulthood.
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:
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.
2017 – Our grant funded a DBA UK family weekend – empowering and supporting parents of affected children. Mums, dads and carers met 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.
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.
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 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.
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.
2018 – Our grant funded an information leaflet to be used by parents and teachers to keep children safe from injury during treatment by non-EB specialist medical professionals. The guide may be used for medical appointments outside of EB appointments, e.g. hospital appointments for breathing problems or surgery, A&E, GPs and dentists.
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.
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.
2017 – Our grant funded a DBA UK family weekend – empowering and supporting parents of affected children. Mums, dads and carers met 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.
Dingley’s Promise provides life-changing support to under five-year-olds with additional needs and disabilities, including children with genetic disorders. The Dingley’s Promise Centre supports children with a range of additional needs – including visual impairment, speech and language delays, low muscle tone, developmental delays and delayed gross motor skills.
2018 – Our grant supported 12 children with genetic disorders through 1:1 support sessions with qualified Dingley’s staff. These learning through play sessions include music and movement, physiotherapy and massage therapy, communication and sensory play.
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.
2017 – Our grant provided 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.
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.
2017 – Our grant paid 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 provides a fantastic opportunity for affected young people to socialise, meet new friends and learn skills without feeling vulnerable.
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.
2016 – Our grant helped to fund the development of a new website for Dravet Syndrome UK. The website provides advice and information for families and medical professionals, and ia be accessible on any type of device.
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 (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 dsdfamilies.org, a new website that was launched in 2011 to provide vital information and advice for UK families affected by a DSD.
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.
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.
2016 – Our grant helped to 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.
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 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.
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 (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.
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.
2018 – Our grant helped fund an outdoor activity weekend especially designed for FOP children, to encourage them to take part in activities they may never have had the opportunity to try before. The weekend built children’s self-esteem and confidence.
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.
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.
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.
2016 – Our grant funded 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.
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.
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.
2016 – Our grant was put towards the cost of a weekend of workshops for families in Scotland that helped parents better understand the condition and offer them the chance to meet and learn from other parents of affected children.
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.
2017 – Our grant funded a family day at which parents learned 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.
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.
The charity was formed by the parents of Harrison, who was diagnosed with Duchenne Muscular Dystrophy in 2011. Duchenne Muscular Dystrophy is the most common fatal genetic disorder to affect children around the world. Children with Duchenne are unable to produce dystrophin, a protein vital for muscle growth. As a result, every muscle in the body deteriorates leading to the use of a wheelchair by the age of 12, total paralysis as a teenager and life expectancy into the twenties. There is no cure.
2018 – Our grant funded the cost of a family ambassador co-ordinator who will be the first point of contact for newly diagnosed families. The co-ordinator provides practical and emotional support, talk through benefit entitlements and the option of any clinical trials.
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 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 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 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.
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.
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.
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.
2018 – For the second year running our grant funded the Inclusive Skating for Genes British Championship as part of the Inclusive Skating British Championships and International Event. This event motivated children with an array of genetic disorders to become actively involved in a sport which benefitted them emotionally as well as physically.
2017 – Our grant established a new Inclusive Skating for Genes British Championship as part of the Inclusive Skating International Skating Competition. This event motivated children with an array of genetic disorders to become actively involved in a sport which will benefit them emotionally as well as physically.
The charity supports 114 children affected by rare life-limiting disorders including Rett syndrome, Barth syndrome, Zellweger syndrome and Duchenne Muscular Dystrophy. Children have complex needs including severe physical and learning disabilities plus feeding difficulties. Many require 24-hour care. None are expected to live beyond 19. Children often have prolonged stays in hospital which can be traumatic.
2018 – Our grant funded Jessie May nurses to provide support, continuity of care and aid communication for children with life-limiting conditions in hospital.
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.
2018 – Our grant funded the production of a DVD explaining Jeune syndrome, the symptoms and the help and support that is available. The DVD is available for both families and medical practitioners. Its aim is to educate families on best clinical practises and current research, to improve children’s quality of life and to connect families with the charity and other families.
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.
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.
Kleefstra Syndrome (Ks) is a rare genetic disorder characterised by learning difficulties, often accompanied by a spectrum of complex physical and clinical features. Children are most commonly delayed in their development, have delayed or no speech and low muscle tone. Some children have problems with hearing and vision, experience seizures, heart conditions, sleep and behavioural difficulties, aspiration reflux/GERD or other digestive issues.
2018 – Our grant funded the third Kleefstra conference, bringing families and medical professionals together. Parents learned about ground-breaking innovation and emerging research, whilst gaining a greater understanding of the condition.
Krabbe disease (also called globoid cell leukodystrophy) is a devastating degenerative disorder affecting the nervous system. Symptoms usually appear before the age of one, as muscle weakness, slow development, fever and feeding issues. As the disease progresses, it further weakens the muscles, leaving children with seizures and unable to move, chew, swallow and breathe. Many children die before the age of two after becoming paralysed and blind.
2018 – Our grant funded a conference bringing experts in Krabbe disease together with GPs, paediatric consultants, nurses, health visitors and parents. The aim was to educate and inform health professionals about Krabbe disease. Funding also covered the production of materials to be distributed to clinical centres.
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.
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.
2017 – Our grant provided 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 were able to learn more about Mitochondrial disease from other mums and dads and experts who will also attend.
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.
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.
2017 – Our grant funded a video created by LPUK showing the positive side of these conditions but also the challenges. The film encouraged 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.
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.
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.
2017 – Our grant helped fund an activity weekend for affected children and young people with complex health and social needs. Here they tried archery, shelter building, outdoor cooking, and assault causes for the first time. They formed friendships and practice life skills that will empower them as young adults.
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.
Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most children with inherited metabolic disorders have a defective gene that causes an enzyme deficiency, which means abnormal chemical reactions alter the metabolic process. This affects the building of vital materials, brain function and removal of waste and toxins. There are 445 of these rare conditions with a wide spectrum of symptoms and prognosis. Some are fatal, others can be controlled by diet and medication.
2018 – Our grant funded the salary of a children and young people’s co-ordinator to support young adults at a challenging time as they transition from paediatric care to general adult health services aged 18.
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.
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 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.
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.
2016 – Our grant funded 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 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.
2016 – Our grant helped to fund the creation of the first patient group in the world dedicated to supporting families affected by Myhre syndrome.
Nicolaides-Baraitser Syndrome (NCBRS) causes a range of health challenges in children, including severe developmental delay, epilepsy, autism or autistic traits, scoliosis, speech difficulties and limited mobility. Babies affected are often born a low birth weight, fail to thrive and require tube feeding.
2018 – Our grant funded a conference for parents to attend lectures from medical experts in NCBRS, scoliosis and epilepsy. Children and young people with NCBRS were also able to meet and their parents were able to share information and experiences.
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.
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.
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.
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.
2018 – Our grant provided essential specialist equipment such as pain-relieving beds, wheelchairs, car seats and portable hoists which will make a real and lasting difference to the lives of individual children and their families affected by genetic disorders.
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’ 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.
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.
2018 – Our grant helped fund a family weekend for children, their parents and siblings. Children with Noonan syndrome often have low confidence and face bullying. Participating in fun activities builds children’s confidence, whilst parents attend medical and educational workshops.
2016 – Our grant funded play sessions at a family day aimed at encouraging children to express themselves and build their self-esteem through creative activities.
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.
2018 – Our grant helped fund a family day for children, their parents and siblings. The aim was for Norrie families to share experiences and offer each other support. Children had fun and played in a safe environment. It was a rare and precious opportunity for a deaf/blind child to be surrounded by those who fully understand their situation. Our grant also helped fund a grants officer to enable the foundation to apply for more grants.
2016 – Our grant helped to fund the creation of the first patient group in the UK dedicated to supporting families affected by Norrie disease.
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.
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.
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.
2017 – Our grant funded 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 finds age-specific, practical advice on how to best look after their affected children. The booklet also helps older children take control of their condition.
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 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.
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.
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.
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 (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.
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.
2015 – Our grant paid 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.
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.
2016 – Our grant helped to fund the development of training materials for teachers and staff within schools who are supporting a child with Prader-Willi syndrome.
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.
This condition is caused by an alteration of the genetic code in a gene called PTEN. Children may have a large head, developmental delays and autism. Children can struggle to walk and not be able to talk. In adulthood there is an 85% chance of developing certain types of cancers. This genetic disorder is thought to go highly undiagnosed.
2018 – Our grant funded an informative leaflet to be sent out to specialist genetic centres, raising the profile of PTEN. The grant also helped to fund website content, a video clip on the website and fundraising packs.
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.
2018 – Our grant funded an annual conference, where the families of children with PURA syndrome can meet with and hear from clinicians and medical researchers who are working to understand PURA syndrome. Families also shared experiences and supported each other.
2016 – Our grant funded the first ever patient support day for families whose children have been diagnosed with PURA syndrome.
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.
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 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.
2016 – Our grant funded 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 also provide parents with the skills to help each other through a parent-to-parent network.
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.
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.
2016 – Our grant funded 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.
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.
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.
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.
2016 – Our grant helped to fund a crèche and activities for affected children and their siblings during the organisation’s family conference.
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.
2018 – Our grant funded special days out to zoos, farms, steam railways, theme parks and visits to Santa for children with extremely rare genetic disorders. These days out provided holistic respite, reduced stigma and isolation and gave children affected by rare genetic disorders and their families a day out making memories.
2017 – Our grant funded the development of a new website for the Sandcastle Trust to help increase the charity’s reach and impact. It allowed 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.
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.
2017 – Our grant provided young carers of adults with Huntington’s disease a Summer Youth Camp where they took a break from the pressures of looking after a family member with HD while meeting other children in their situation. They were given accurate age-appropriate information about the condition, enabling them to face the future with confidence.
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 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 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.
2018 – Our grant funded research into the sleep patterns experienced by children with Smith-Magenis syndrome, including consultations with sleep experts and health professionals. This was with a view to publishing clear and supported guidance to managing sleep patterns, improving the quality of life for children.
2017 – Our grant funded a creche for affected children and siblings at a family gathering. Parents, who often suffer from stress and sleep-deprivation, were able to relax and focus on learning from attending experts and each other while their children are looked after.
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.
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.
2018 – Our grant was used to fund the annual UK family weekend, attended by parents and affected children, with personal support from the charity’s professional advisers.
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 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 (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 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.
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.
2017 – Our grant allowed the families of ten children to enjoy an unforgettable day and night together at Legoland Windsor hotel which is UV safe. Not only did they stay in the hotel, the children were able to play on rides and see the exhibits after hours when they don’t have to wear their restrictive clothing. They also had age-appropriate workshops on the importance of photo-protection.
2016 – Our grant funded 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.
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.
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.
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.
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.
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.
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.
2018 – The charity used our grant to bring families with children with 16p11.2 deletions and duplications together for a social and study weekend. Families were able to share experiences as well as hear from expert professionals, geneticists and researchers in the field. While workshops and presentations were running, children were well cared for in a creche.
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.
Usher syndrome is a recessive genetic disorder which affects vision, hearing and balance. Loss of vision starts in early childhood with night blindness, then tunnel vision. Some have total loss of vision. Children with Usher syndrome are born with or develop hearing loss. Poor balance is also a factor.
2018 – Our grant will funded a family event day for children to share experiences and concerns and learn a new skill. Parents attended planning workshops to identify specific areas in which they and their child need support.
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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.
2016 – Our grant funded a 12-month programme of activities that will encourage the children to learn new skills and increase their confidence and self-esteem.
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.
2017 – Our grant enabled 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 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.
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.
2017 – Our grant paid 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.
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.
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.
2017 – Our grant funded a much-needed get together for parents, affected children and their siblings. Doctors and scientists attended to meet families and answer questions and provide presentations to help families understand the syndromes they face and what can be done.