There are grants and funds available to ensure that the work There are several options to consider should families wish involved is affordable. An occupational therapist will consult to explore ways of maximising the limited time available on all aspects of any adaptations and assist the family in to share with their children. Contacting a charitable wish- undertaking this process. granting organisation may lead to them being able to create some valuable and significant memories. CLN6 Disease, Variant Late-Infantile Will there be an impact on the child's education? Where can I get additional information and Education will continue to be important for the child and family support? have now been identified in late-infantile variant patients, and there will be many aspects that require consideration Are there any alternative names? and significant assistance from those around them. The BDFA offers support to any family member, friend, all resulting in abnormal storage of and lipids (fats) professional or organisation involved in caring for a child with in neurons (nerve cells) and other cells. The cells cannot The Children and Families Act 2014 came into force in CLN6 disease or any other form of NCL throughout the UK. CLN6 disease, variant late-infantile was one of the first function properly and this leads to the development of the September 2014. The introduction of the 0-25 Education, We provide informed guidance and assistance as well as variant types of Neuronal Ceroid Lipofuscinosis (NCLs) to symptoms associated with CLN6 disease. Health and Care Plan should help children, young people seeking to actively increase awareness of the disease and be identified and was originally termed early Juvenile Batten and families affected by NCL. Education, Health and Care facilitate future research to identify potential therapies and disease. How are NCLs inherited? (EHC) Plans will gradually replace Statements of Special ultimately a cure. Educational Needs. We organise conferences, workshops and are able to What are Neuronal Ceroid Lipofuscinoses (NCLs)? Most forms of NCL are inherited as “autosomal recessive” Children who do not yet have a Statement will have a arrange connections with other affected families. The BDFA disorders. This is one of several ways that a trait, disorder, statutory Education, Health and Care Needs assessment. also coordinate a Small Grants Scheme that can provide These refer to several different genetic life-limiting or disease can be passed down through families. An An EHC Plan will be drawn up that is personalised to meet assistance for a range of needs. neurodegenerative diseases that share similar features. autosomal recessive disorder means that both copies of the education, health and care needs of the child. Although the different forms of NCL are sometimes the are abnormal (one inherited from each parent) with The BDFA has a Support and Advocacy Partner who is described according to the age of the child at the onset neither working properly. The disease does not depend on It remains probable that many parents will continue to able to assist with many of the issues highlighted in this of the disease, they are now better classified according to the sex of an individual. need guidance, understanding and support when trying document and can discuss each of them in greater detail the gene identified as the cause e.g. CLN6 (gene) disease, to navigate the process of statutory assessment and the and on a more personal basis. variant late-infantile (age of onset), CLN3 (gene) disease, What are the chances of inheriting CLN6 disease? drawing up of the EHC Plan. juvenile (age of onset). The BDFA family folder can also provide further specific Unaffected Unaffected CLN6 disease is inherited The BDFA has expertise in this field and can be approached information on CLN6 disease. The folder is free for all families Carrier Carrier What causes NCL? Father Mother by any parties seeking information or help. and available to professionals at a cost of £25. as an autosomal recessive disorder, The BDFA Educational Advisor may be able to provide Please contact the BDFA Family Support and Advocacy Since the first causing NCL were identified in 1995, which means that both specific support and can be contacted via Partner via our Freephone Helpline: 0800 046 9832 or over 400 mutations in 14 different genes have been described carry 0800 046 9832 email: [email protected] email: [email protected] for further information that cause the various forms of NCL disease. Our cells contain mutations in the CLN6 and to order a copy of the family folder. thousands of genes that are lined up along chromosomes. gene. Therefore both Human cells contain 23 pairs of chromosomes (46 in total). biological parents of a In what other ways can families be supported? There are a number of local and national organisations that Most genes control the manufacture of at least one . child with this diagnosis are also able to offer various forms of support and information These proteins have different functions and include will be carriers of the The realities of caring for a child who has CLN6 disease that will be relevant to families. The BDFA can provide details that act to speed up molecular chemical reactions. The disease but physically can place enormous strain on a family, both physical and and information about them. NCLs are caused by abnormal genes, which are unable unaffected by it. A child emotional. It will impact upon all members in numerous to produce the required proteins. As a result, the cells do born to parents who ways and so being made aware that support is available to not work properly and this leads to the development of both carry the autosomal It may also be appropriate for a referral to be made to a local Non- Unaffected Unaffected Affected groups and individuals to help with the challenges that will symptoms associated with these diseases. Affected Carrier Carrier CLN6 recessive mutation in children’s hospice service, as this can offer an additional Disease be faced is important. This support extends to wider family experienced and skilled source of holistic support. the CLN6 gene has a members and step-relatives. 25% 50% 25% 25% (1 in 4) chance of What specifically causes CLN6 disease? inheriting the abnormal malfunctioning genes from both parents and developing The information in this document is provided on the understanding that it is intended for general information purposes only, therefore The gene called CLN6 was identified as the cause of disease CLN6 disease. the Family Association (BDFA) accepts no responsibility or liability for any other form of use, nor for circumstances arising in 1997, and lies on 15. It encodes a protein from any unintended or unsanctioned use. The BDFA have made every effort to ensure that the information provided is appropriate and They will have a 50% (1 in 2) chance of inheriting one accurate at the time of publication. All decisions pertaining to care and treatment of an individual child should be managed, in conjunction whose function is not well understood. The protein is found in with parents or legal guardians, by qualified professionals working for the appropriate health, educational and social services. the cell in a structure called the (ER). abnormal gene, which would make them a carrier who is unaffected by the disease. There is a 25% (1 in 4) chance Some of the information contained in this leaflet is based upon chapters in "The Neuronal Ceroid Lipofuscinoses (Batten Disease) This is a network of flattened tubular membranes similar to 2nd Edition” by Mole, Williams & Goebel (Eds), 2011 and is used with permission. the cell membrane, but inside the cell. One of the functions of the child being born with two normal genes and therefore being non-affected (not a carrier). Contributors: BDFA Harriet Lunnemann QSW, Heather Band MSc, Barbara Cole QTVI, Matt Hobbs RN. of the ER is to assemble and package proteins that are then Advisors: Professor Paul Gissen, Scientific and Medical Advisor, Professor , Scientific Advisor, transported to other parts of the cell or released outside Clare Beesley PhD, Scientific Advisor. With support from Bluepepper Designs. of the cell. Another function makes the lipids (fats) that are When it is known that both parents are carriers of the © Batten Disease Family Association, 2017(r) Registered Charity in England and Wales No. 1084908 - Scotland SCO47408 found in all membranes within the cell. abnormal gene, we refer to there being a 2 in 3 chance of BDFA, The Old Library, 4 Boundary Road, Farnborough, Hants. GU14 6SF a child being a carrier, once it is established that they are unaffected by the disease. Freephone Helpline: 0800 046 9832 Email: [email protected] Website: www.bdfa-uk.org.uk Many different mutations (mistakes) in the CLN6 gene

www.bdfa-uk.org.uk Freephone Helpline: 0800 046 9832 Freephone Helpline: 0800 046 9832 www.bdfa-uk.org.uk With any pregnancy, the probability of a child inheriting one Later, children with CLN6 disease usually have myoclonic to posture, seating, skin and mouth care is essential and families should be offered support from various professionals or both genes from their parents is the same each time, (rapid involuntary muscle spasm) jerks of their limbs and are children will require additional nutritional support that will attached to their local health, social, educational services irrespective of any sibling’s status. prone to erratic movements of their head (nods). They may include consideration of a gastrostomy. and the BDFA Support and Advocacy Partner. Ideally a have difficulty sleeping and often become distressed around “Team Around the Child” will be formed, with one of the this time, usually without obvious reason. In a relatively professionals appointed as a Keyworker for the family. How is it diagnosed? short time, 1 - 2 years after seizures begin, vision gradually What research is being done? deteriorates, with its loss being ultimately inevitable. The child’s needs should be discussed with the parents Children will probably have been seen by a paediatrician Research into possible methods for treating the disease is on and assessed by the team. The team will work together to and paediatric neurologist, because of symptoms such as The of the disease means that children will become going with various theoretical approaches being considered ensure that the child and family receive the on-going care seizures. A number of investigations will have been done to completely dependent on families and carers for all of their and investigated. Gene therapy for CLN6 disease is being and support they need and that their choices are taken into look for the cause of the seizures. daily needs, however the rate of progression to this state investigated, which aims to introduce a copy of the defective account. can vary significantly between individuals. In order to ensure gene into cells so that they can then produce a correct Blood samples will be taken for a number of investigations they receive adequate nutrition, they will require a specialist functioning protein within the brain and the eye. This forms A child and family’s needs will inevitably change as the to identify the type of Batten Disease. When viewed with feeding tube (gastrostomy). There will be noticeable stiffening part of the on-going BATCure project however it is still in the disease progresses. As such, it is often helpful if a clear an electron microscope, blood samples will usually show of their arms and legs, whilst some children become prone early stages of development. process for regular planned reviews is identified and that a abnormal storage bodies in the cells. These products can to frequent chest infections. system is established for enabling additional reviews as and have characteristic patterns, depending on the type of NCL. Researchers in the UK and worldwide are researching when they are deemed necessary. As the rate or pattern Sadly most children who have CLN6 disease die during potential drugs which may alleviate some of the symptoms of the progression of the disease for each child remains Genetic testing is recommended to look for the exact mutation late childhood or their teenage years, though there are of the disease or slow its progression. uncertain, an individualised plan of care and support is or mistake in the CLN6 gene. A blood or saliva sample will be exceptions. essential. taken to extract DNA from the cells for the test. For updates and information regarding developments in research please visit the BDFA website: www.bdfa-uk.org.uk, Are there any treatments? The BDFA is able to provide various forms of holistic support BATCure website: www.batcure.eu and can be contacted via 0800 046 9832 How common is it? via 0800 046 9832, email: [email protected] email: [email protected] Currently there is no cure for CLN6 disease and therefore Approximately 1 - 2 children are diagnosed with CLN6 specialist symptom management and therapy is essential to disease each year in the UK. We estimate there are currently assist in maintaining a good quality of life for children and their What are the genetic considerations? How can families manage the financial challenges? less than 8 affected children in the UK. Children have been families. Holistic support for parents, siblings and wider family diagnosed with this condition in many countries and from a members is extremely important throughout their journey. The age that CLN6 disease is usually diagnosed in a child Caring for a child with CLN6 disease will bring additional variety of ethnic backgrounds. means that some families will have younger siblings who financial challenges. It is vital that families are well informed Epilepsy can be difficult to treat and therefore obtaining may be affected but have not displayed any symptoms. about the full level of economic assistance available and the complete control of seizures is not always possible. support that they are entitled to. They may well need help What are the symptoms and how does the Anticonvulsant medications will be necessary from the Unaffected Non- It may also be possible and guidance in accessing benefits and other sources of disease progress? Carrier Affected early stages of the disease process which may respond to Parent Parent that older unaffected assistance. The professionals and services supporting the valproic acid, lamotrigine and clobazam. siblings are carriers of the family should provide advice and guidance. The BDFA can Children appear to be healthy and develop normally for the disease and may want to also support families with these issues in various ways, the first few years of life. Children with CLN6 disease can be Myoclonic jerks (involuntary muscle spasms) are common, understand how CLN6 Small Grants Scheme being one particular example. very different from each other, making the disease course though should not be confused with epileptic seizures. disease may affect their difficult to predict in individual cases. The first symptoms Levetiracetam, Piracetam and zonisimide may be helpful family choices when they may be apparent early on in life, though might not be evident for the treatment of myoclonus. They can interfere with rest are older. What are the practical implications for the family? until after school entry. Developmental progress may begin and sleep as well as being distressing for children and their to slow down and some children will be delayed in the families. When only one parent is As the disease progresses, specialist equipment and aids will development of their language skills. Challenging behaviour a carrier of the abnormal become necessary and this is another area where the family may be seen at an early stage, before other symptoms and Spasticity (unusually tight or stiff muscles) can be managed gene, and the other is non- will need help. Items are likely to include specialist seating, so it is often only linked to the disease after diagnosis is with baclofen. In order for medication to be sufficient the affected, there is a 50% buggies/wheelchairs, bathing and toileting aids, hoisting Non- Non- Unaffected Unaffected made. responsible doctor may need to prescribe higher dosages Affected Affected Carrier Carrier (1 in 2) chance that any equipment and a specialist bed/mattress. Professionals will than are usual. child will be an unaffected play a key role in ensuring that these and other items are 50% 50% Usually the onset of epilepsy will take place between 18 carrier. provided in a timely manner following proper assessment of months and 8 years of age. The seizures may be varying Various professionals including doctors, nurses, the individual child’s needs. in nature and include drops, vacant spells (absences) or physiotherapists, occupational therapists and speech and If parents are considering having additional children, they motor seizures with violent jerking of the limbs and loss language therapists should be involved in the care of children can access specialist advice and support from their local It is likely that changes will be needed in the home of consciousness. Initially, seizures may be successfully with CLN6 disease. They will work collaboratively and in clinical genetics service following a referral from their GP. environment to enable the family to appropriately care for a managed with medication, yet they will always recur and conjunction with the family to provide a holistic approach Prenatal testing may be possible in the early stages of any child with CLN6 disease. These may include installing ramps, often become difficult to control. to care. future pregnancy. widening doorways and providing suitable floor surfaces. A purpose-built wet room with a specialist bath or shower is Children tend to become unsteady on their feet and may Support and treatment will be needed for a range of Is support available to families? commonly needed and there are various other aspects that frequently fall. Gradually, skills related to walking, playing issues including progressive difficulties with chewing and will require consideration. and speech are lost with children becoming less able and swallowing, constipation, hydration, respiratory function, oral increasingly dependent. secretions, motor disorder and sleep disturbance. Attention As soon as possible following a diagnosis of CLN6 disease,

www.bdfa-uk.org.uk Freephone Helpline: 0800 046 9832 Freephone Helpline: 0800 046 9832 www.bdfa-uk.org.uk