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. CLN5 Disease, Variant Late-Infantile Will there be an impact on the child’s education? Where can I get additional information and support? Education will continue to be important for the child and family now been identified in CLN5 disease patients, all resulting and there will be many aspects that require consideration Are there any alternative names? in abnormal storage of and lipids (fats) in neurons and significant assistance from those around them. The BDFA offers support to any family member, friend, (nerve cells) and other cells. The cells cannot function professional or organisation involved in caring for a child with CLN5 disease, variant late-infantile may also be referred to properly and this leads to the development of the symptoms CLN5 disease or any other form of NCL throughout the UK. The Children and Families Act 2014 came into force in as variant late-infantile CLN5 disease. It has previously been associated with CLN5 disease. We provide informed guidance and assistance as well as September 2014. The introduction of the 0-25 Education, described as Finnish, Turkish, Indian, or Mediterranean seeking to actively increase awareness of the disease and Health and Care Plan should help children, young people Variant NCL, alongside Variant Late Infantile Neuronal Ceroid facilitate future research to identify potential therapies and and families affected by NCL. Education, Health and Care Lipofuscinosis (LINCL); though was more commonly known How are NCLs inherited? ultimately a cure. (EHC) Plans will gradually replace Statements of Special as Variant Late-Infantile . Educational Needs. Most forms of NCL are inherited as “autosomal recessive” We organise conferences, workshops and are able to disorders. This is one of several ways that a trait, disorder, Children who do not yet have a Statement will have a arrange connections with other affected families. The BDFA What are Neuronal Ceroid Lipofuscinoses (NCLs)? or disease can be passed down through families. An statutory Education, Health and Care Needs assessment. also coordinate a Small Grants Scheme that can provide autosomal recessive disorder means that both copies of An EHC Plan will be drawn up that is personalised to meet assistance for a range of needs. These refer to several different genetic life-limiting the are abnormal (one inherited from each parent) with the education, health and care needs of the child. It remains neurodegenerative diseases that share similar features. neither working properly. The disease does not depend on probable that many parents will continue to need guidance, The BDFA has a Support and Advocacy Partner who is Although the different forms of NCL are sometimes the sex of an individual. understanding and support when trying to navigate the able to assist with many of the issues highlighted in this described according to the age of the child at the onset process of statutory assessment and the drawing up of the document and can discuss each of them in greater detail of the disease, they are now better classified according to EHC Plan. The BDFA has expertise in this field and can be and on a more personal basis. The BDFA family folder can the gene identified as the cause e.g. CLN5 (gene) disease, What are the chances of inheriting CLN5 disease? approached by any parties seeking information or help. also provide further specific information on CLN5 disease. variant late-infantile (age of onset), CLN3 (gene) disease, The folder is free for all families and available to professionals juvenile (age of onset). CLN5 disease is inherited as an autosomal recessive The BDFA Educational Advisor may be able to provide at a cost of £25. disorder, which means that both carry specific support and can be contacted via mutations in the CLN5 gene. Therefore both biological 0800 046 9832 email: [email protected] Please contact the BDFA Family Support and Advocacy What causes NCL? parents of a child with this diagnosis will be carriers of the Partner via our Freephone Helpline: 0800 046 9832 or disease but physically unaffected by it. email: [email protected] for further information Since the first causing NCL were identified in 1995, In what other ways can families be supported? and to order a copy of the family folder. Unaffected Unaffected over 400 mutations in 14 different genes have been described Carrier Carrier A child born to parents who that cause the various forms of NCL disease. Our cells contain Father Mother both carry the autosomal The realities of caring for a child who has CLN5 disease There are a number of local and national organisations that thousands of genes that are lined up along chromosomes. recessive mutation in the can place enormous strain on a family, both physical and are also able to offer various forms of support and information Human cells contain 23 pairs of chromosomes (46 in total). CLN5 gene has a 25% (1 in emotional. It will impact upon all members in numerous that will be relevant to families. The BDFA can provide details Most genes control the manufacture of at least one . 4) chance of inheriting the ways and so being made aware that support is available to and information about them. It may also be appropriate for a These proteins have different functions and include enzymes abnormal malfunctioning groups and individuals to help with the challenges that will referral to be made to a local children’s hospice service, as that act to speed up molecular chemical reactions. The genes from both parents and be faced is important. This support extends to wider family this can offer an additional experienced and skilled source NCLs are caused by abnormal genes, which are unable developing CLN5 disease. members and step-relatives. of holistic support. to produce the required proteins. As a result, the cells do They will have a 50% (1 not work properly and this leads to the development of in 2) chance of inheriting The information in this document is provided on the understanding that it is intended for general information purposes only, therefore symptoms associated with these diseases. one abnormal gene, which the Batten Disease Family Association (BDFA) accepts no responsibility or liability for any other form of use, nor for circumstances arising would make them a carrier from any unintended or unsanctioned use. The BDFA have made every effort to ensure that the information provided is appropriate and Non- Unaffected Unaffected Affected Affected Carrier Carrier CLN5 who is unaffected by the accurate at the time of publication. All decisions pertaining to care and treatment of an individual child should be managed, in conjunction What specifically causes CLN5 disease? Disease disease. There is a 25% (1 in with parents or legal guardians, by qualified professionals working for the appropriate health, educational and social services. 25% 50% 25% 4) chance of the child being Some of the information contained in this leaflet is based upon chapters in "The Neuronal Ceroid Lipofuscinoses (Batten Disease) The gene called CLN5 was discovered in 1998 and lies born with two normal genes 2nd Edition” by Mole, Williams & Goebel (Eds), Oxford University Press 2011 and is used with permission. on 13. As yet there is no defined role for the and therefore being non-affected (not a carrier). Permission has also been granted for the inclusion of additional information sourced from Dr. Ruth Williams. protein that the gene encodes. No other genes encode (NCL2012 Abstract Book, Clinical Summaries, 2012) proteins similar to CLN5, indicating that the CLN5 has a When it is known that both parents are carriers of the specialised role within the lysosome. It may have several abnormal gene, we refer to there being a 2 in 3 chance Contributors: BDFA Harriet Lunnemann QSW, Heather Band MSc, Barbara Cole QTVI, Matt Hobbs RN. forms within the cell and the current evidence suggests that of a child being a carrier, once it is established that they Advisors: Professor Paul Gissen, Scientific and Medical Advisor, Professor , Scientific Advisor, Clare Beesley PhD, Scientific Advisor. With support from Bluepepper Designs. it is the soluble form that is responsible for the symptoms of are unaffected by the disease. With any pregnancy, the © Batten Disease Family Association, 2017(r) Registered Charity in England and Wales No. 1084908 - Scotland SCO47408 the disease. probability of a child inheriting one or both genes from their parents is the same each time, irrespective of any sibling’s BDFA, The Old Library, 4 Boundary Road, Farnborough, Hants. GU14 6SF Many different mutations (mistakes) in the CLN5 gene have status. Freephone Helpline: 0800 046 9832 Email: [email protected] Website: www.bdfa-uk.org.uk

www.bdfa-uk.org.uk Freephone Helpline: 0800 046 9832 Freephone Helpline: 0800 046 9832 www.bdfa-uk.org.uk their head (nods). They will have difficulty sleeping and often issues including progressive difficulties with chewing and How is it diagnosed? become distressed around this time, usually without obvious swallowing, constipation, hydration, respiratory function, oral Is support available to families? reason. Their vision gradually deteriorates, with its loss being secretions, motor disorder and sleep disturbance. Attention Children will probably have been seen by a paediatrician ultimately inevitable. to posture, seating, skin and mouth care is essential and As soon as possible following a diagnosis of CLN5 disease, and paediatric neurologist, because of symptoms such as children will require additional nutritional support that will families should be offered support from various professionals . A number of investigations will have been done to The nature of the disease means that children will become include consideration of a gastrostomy. attached to their local health, social, educational services and look for the cause of the seizures. completely dependent on families and carers for all of their the BDFA Support and Advocacy Partner. Ideally a “Team daily needs, however the rate of progression to this state can Around the Child” will be formed, with one of the professionals What research is being done? Blood samples will be taken for a number of investigations vary significantly between individuals (the period between 9 – appointed as a Keyworker for the family. The child’s needs to identify the type of Batten Disease. When viewed with 11 years of age often sees rapid advancement of symptoms). should be discussed with the parents and assessed by the an electron microscope, blood samples will usually show In order to ensure they receive adequate nutrition, they will Research into possible methods for treating the disease is on team. The team will work together to ensure that the child and abnormal storage bodies in the cells. These products can require a specialist feeding tube (gastrostomy). There may going with various theoretical approaches being considered family receive the on-going care and support they need and have characteristic patterns, depending on the type of NCL. be noticeable stiffening of their arms and legs, whilst some and investigated. for CLN5 disease is being that their choices are taken into account. children become prone to frequent chest infections. investigated, which aims to introduce a copy of the defective Genetic testing is recommended to look for the exact mutation gene into cells so that they can then produce a correct A child and family’s needs will inevitably change as the disease or mistake in the CLN5 gene. A blood or saliva sample will be Sadly most children who have CLN5 disease die during functioning protein. Recently progress has been made in a progresses. As such, it is often helpful if a clear process taken to extract DNA from the cells for the test. late childhood or their teenage years, though there are naturally occurring sheep model system of CLN5 disease, for regular planned reviews is identified and that a system exceptions. however it is still in the early stages of development. is established for enabling additional reviews as and when they are deemed necessary. As the rate or pattern of the How common is it? Researchers in the UK and worldwide are looking at potential progression of the disease for each child remains uncertain, Are there any treatments? drugs which may alleviate some of the symptoms of the an individualised plan of care and support is essential. Approximately 1 - 2 children are diagnosed with CLN5 disease or slow its progression. disease each year in the UK. We estimate there are currently Currently there is no cure for CLN5 disease and therefore The BDFA is able to provide various forms of holistic support less than 10 affected children in the UK. Children have been specialist symptom management and therapy is essential For updates and information regarding developments in and can be contacted via 0800 046 9832 diagnosed with this condition in many countries and from a to assist in maintaining a good quality of life for children and research please visit the BDFA website: www.bdfa-uk.org.uk email: [email protected] variety of ethnic backgrounds. their families. Holistic support for parents, siblings and wider or contact the BDFA Scientific Officer family members is extremely important throughout their via 0800 046 9832, email: [email protected] journey. How can families manage the financial challenges? What are the symptoms and how does the disease progress? Epilepsy can be difficult to treat and therefore attaining What are the genetic considerations? Caring for a child with CLN5 disease will bring additional complete control of seizures is not always possible. financial challenges. It is vital that families are well informed Unaffected Non- about the full level of economic assistance available and the Children appear to be healthy and develop normally for the Anticonvulsant medications (e.g. sodium valproate) will be Carrier Affected The age that CLN5 first few years of life. Children with CLN5 disease can be necessary from the early stages of the disease process. Either Parent Parent disease is usually support that they are entitled to. They may well need help very different from each other, making the disease course lamotrigine or levetiracetam can be used as an alternative diagnosed in a child and guidance in accessing benefits and other sources of difficult to predict in individual cases. The first symptoms and it is likely that a combination therapy of two from these means that some families assistance. The professionals and services supporting the may be apparent early on in life, though might not be evident three drugs will be required if sufficient control cannot will have younger siblings family should provide advice and guidance. The BDFA can until after school entry. Developmental progress may begin be obtained. The introduction of a further third anti-epileptic who may be affected but also support families with these issues in various ways, the to slow down and some children will be delayed in the medication may be required and clonazepam is usually have not displayed any Small Grants Scheme being one example. development of their language skills. Challenging behaviour preferred, whilst phenobarbitone and benzodiazepines have symptoms. may be seen at an early stage, before other symptoms and been used to treat prolonged seizures. What are the practical implications for the family? so it is often only linked to the disease after diagnosis is It may also be possible made. Myoclonic jerks (involuntary muscle spasms) are common, that older unaffected though should not be confused with epileptic seizures. They siblings are carriers of As the disease progresses, specialist equipment and aids will Usually the onset of epilepsy will take place between 7 and can interfere with rest and sleep as well as being distressing the disease and may become necessary and this is another area where the family 13 years of age. The seizures may be varying in nature and for children and their families. Along with spasticity (unusually want to understand how will need help. Items are likely to include specialist seating, Non- Non- Unaffected Unaffected include drops, vacant spells (absences) or motor seizures tight or stiff muscles), these symptoms can be managed Affected Affected Carrier Carrier CLN5 disease may affect buggies/wheelchairs, bathing and toileting aids, hoisting with violent jerking of the limbs and loss of consciousness. with baclofen and tizanidine. In order for medication to be their family choices when equipment and a specialist bed/mattress. Professionals will 50% 50% Initially, seizures may be successfully managed with sufficient the responsible doctor may need to prescribe they are older. play a key role in ensuring that these and other items are medication, yet they will always recur and often become higher dosages than are usual for those who do not have provided in a timely manner following proper assessment of difficult to control. CLN5 disease. When only one parent is a carrier of the abnormal gene, and the individual child’s needs. the other is non-affected, there is a 50% (1 in 2) chance that Children tend to become unsteady on their feet and may Various professionals including doctors, nurses, any child will be an unaffected carrier. It is likely that changes will be needed in the home frequently fall. Gradually, skills related to walking, playing physiotherapists, occupational therapists and speech and environment to enable the family to appropriately care for a and speech are lost with children becoming less able and language therapists should be involved in the care of children If parents are considering having additional children, they child with CLN5 disease. These may include installing ramps, increasingly dependent. with CLN5 disease. They will work collaboratively and in can access specialist advice and support from their local widening doorways and providing suitable floor surfaces. A conjunction with the family to provide a holistic approach clinical genetics service following a referral from their GP. purpose-built wet room with a specialist bath or shower is Between 6 - 13 years of age, children with CLN5 disease to care. Prenatal testing may be possible in the early stages of any commonly needed and there are various other aspects that usually have myoclonic (rapid involuntary muscle spasm) future pregnancy. will require consideration. jerks of their limbs and are prone to erratic movements of Support and treatment will be needed for a range of

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