2018 grant recipients


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ALD Life

ALD Life

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

Our grant will fund the creation of books and website content for children and teenagers with ALD. The literature will explain the diagnosis and the implications of living with the genetic disorder.

Angelman Syndrome Support Education Research Trust (ASSERT)

Angelman Syndrome Support Education Research Trust (ASSERT)

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

Communication and access to literacy can be a huge challenge for children with AS. Our grant will help 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.

Ataxia UK

Ataxia UK

Ataxia is an umbrella term for a group of 100 rare degenerative neurological conditions which affect balance, co-ordination and speech. There are no cures or effective treatments. Common symptoms include slurred speech, tremors and shaking hands, blurred vision and problems swallowing. Some types of ataxia will progressively get worse, whilst others will improve.

Our grant will go towards setting up specialist treatment clinics, scientific research, hosting conferences and seminars and creating support networks for the ataxia community.

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Cardiomyopathy UK

Cardiomyopathy UK

Cardiomyopathy UK is a life-limiting disease of the heart muscle which is mostly inherited. It affects the structure of the heart, reducing its ability to pump blood around the body. Cardiomyopathy can leave young people out of breath, exhausted and with reduced mobility. It is the main cause of sudden cardiac death in people aged under 35.  Families often need help understanding the implications of a diagnosis, surgery and the day to day limitations on their child’s life.

Our grant will help fund a paediatric helpline service staffed by nurses, for young people with cardiomyopathy and the parents of young children who have been diagnosed.

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DEBRA

DEBRA

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 have 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. Certain types are fatal in infancy.

Our grant will fund 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.

Dingley’s Promise

Dingley’s Promise

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.

Our grant will support 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.

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FOP Friends

FOP Friends

Fibrodysplasia ossificans progressiva (FOP) is one of the world’s rarest genetic conditions, affecting just one in two 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. There is no known treatment or cure.

Our grant will help 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 will build children’s self-esteem and confidence.

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Harrison’s Fund

Harrison’s Fund

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.

Our grant will fund the cost of a family ambassador co-ordinator who will be the first point of contact for newly diagnosed families. The co-ordinator will provide practical and emotional support, talk through benefit entitlements and the option of any clinical trials.

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Inclusive Skating

Inclusive Skating

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

For the second year running our grant will fund the Inclusive Skating for Genes British Championship as part of the Inclusive Skating British Championships and International Event. This event will motivate children with an array of genetic disorders to become actively involved in a sport which will benefit them emotionally as well as physically.

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Jessie May

Jessie May

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.

Our grant will fund Jessie May nurses to provide support, continuity of care and aid communication for children with life-limiting conditions in hospital.

Jeune Syndrome Foundation

Jeune Syndrome Foundation

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

Our grant will fund the production of a DVD explaining Jeune syndrome, the symptoms and the help and support that is available. The DVD will be 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. 

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Kleefstrasyndrome.org

Kleefstrasyndrome.org

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.

Our grant will fund the third Kleefstra conference, bringing families and medical professionals together. Parents will learn about ground-breaking innovation and emerging research, whilst gaining a greater understanding of the condition.

Krabbe UK

Krabbe UK

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.

Our grant will fund a conference bringing experts in Krabbe disease together with GPs, paediatric consultants, nurses, health visitors and parents. The aim is to educate and inform health professionals about Krabbe disease. Funding will also cover the production of materials to be distributed to clinical centres.

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Metabolic Support UK

Metabolic Support UK (formerly known as Climb)

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.

Our grant will fund 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.

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NCBRS Support Group

NCBRS Support Group

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.

Our grant will fund a conference for parents to attend lectures from medical experts in NCBRS, scoliosis and epilepsy. Children and young people with NCBRS will also be able to meet and their parents will be able the share information and experiences. 

Newlife

Newlife

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

Our grant provides 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.

Noonan Syndrome Association

Noonan Syndrome Association

Noonan syndrome is a genetic disorder that causes a wide range of health problems and distinctive features. Affected children may have heart abnormalities and epilepsy, delayed intellectual development, behavioural problems and delayed puberty. Children are often of short stature and display distinctive facial features.

Our grant will help 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.

Norrie Disease Foundation

Norrie Disease Foundation

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

Our grant will help fund a family day for children, their parents and siblings. The aim is for Norrie families to share experiences and offer each other support. Children can have fun and play in a safe environment. It is a rare and precious opportunity for a deaf/blind child to be surrounded by those who fully understand their situation. Our grant will also help fund a grants officer to enable the foundation to apply for more grants.

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PTEN Hamartoma Tumour Syndrome

PTEN Hamartoma Tumour Syndrome

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.

Our grant will fund an informative leaflet to be sent out to specialist genetic centres, raising the profile of PTEN. The grant will also help to fund website content, a video clip on the website and fundraising packs.

PURA Syndrome UK

PURA Syndrome UK

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

Our grant will fund 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 can also share experiences and support each other.

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Sandcastle Trust

Sandcastle Trust

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

Our grant will fund special days out to zoos, farms, steam railways, theme parks and visits to Santa for children with extremely rare genetic disorders. These days out provide holistic respite, reduce stigma and isolation and give children affected by rare genetic disorders and their families a day out making memories.

Smith-Magenis Syndrome Foundation UK

Smith-Magenis Syndrome Foundation UK

Smith-Magenis syndrome is a genetic disorder characterised by learning disabilities, delayed speech and language skills and behavioural problems. Affected children often experience extremely agitated outbursts and anxiety. They may have feeding problems affecting their growth, plus vision and hearing problems. Sleep is a major challenge as due to an inverted circadian rhythm (your daily body clock) children are awake for long periods at night and need to sleep in intervals during the day. This may pose a risk for child safety and puts immense strain on the family.

Our grant will fund research into the sleep patterns experienced by children with Smith-Magenis syndrome, including consultations with sleep experts and health professionals. This is with a view to publishing clear and supported guidance to managing sleep patterns, improving the quality of life for children.

Soft UK

Soft UK

Trisomy 18 (Edwards’ syndrome) and trisomy 13 (Patau’s syndrome) are genetic disorders which 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.

Our grant will be used to fund the annual UK family weekend, attended by parents and affected children, with personal support from the charity’s professional advisers.

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Unique

Unique

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.

The charity will use our grant to bring families with children with 16p11.2 deletions and duplications together for a social and study weekend. Families will be able to share experiences as well as hear from expert professionals, geneticists and researchers in the field. While workshops and presentations are running, children will be well cared for in a creche.

Usher Kids UK

Usher Kids UK

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.

Our grant will fund a family event day for children to share experiences and concerns and learn a new skill. Parents can attend planning workshops to identify specific areas in which they and their child need support.