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