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CLN7 Disease, Variant Late-Infantile

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CLN7 Disease, Variant Late-Infantile There are grants and funds available to ensure that the work groups and individuals to help with the challenges that will involved is affordable. An occupational therapist will consult be faced is important. This support extends to wider family on all aspects of any adaptations and assist the family in members. There are several options to consider should undertaking this process. families wish to explore ways of maximising the limited time available to share with their children. Contacting a charitable CLN7 Disease, Variant Late-Infantile wish-granting organisation may lead to them being able to Will there be an impact on the child’s education? create some valuable and significant memories. Are there any alternative names? How are NCLs inherited? Education will continue to be important for the child and family Where can I get additional information and support? and there will be many aspects that require consideration and significant assistance from those around them. CLN7 disease, variant late-infantile may also be referred to Most forms of NCL are inherited as “autosomal recessive” The BDFA offers support to any family member, friend, as variant late-infantile CLN7 disease, alongside Variant Late disorders. This is one of several ways that a trait, disorder, The Children and Families Act 2014 came into force in professional or organisation involved in caring for a child with Infantile Neuronal Ceroid Lipofuscinosis; though was more or disease can be passed down through families. An September 2014. The introduction of the 0-25 Education, CLN7 disease or any other form of NCL throughout the UK. commonly known as Variant Late-Infantile Batten Disease. autosomal recessive disorder means that both copies of Health and Care Plan should help children, young people We provide informed guidance and assistance as well as the gene are abnormal (one inherited from each parent) with and families affected by NCL. Education, Health and Care seeking to actively increase awareness of the disease and neither working properly. The disease does not depend on (EHC) Plans will gradually replace Statements of Special facilitate future research to identify potential therapies and What are Neuronal Ceroid Lipofuscinoses (NCLs)? the sex of an individual. Educational Needs. ultimately a cure. Children who do not yet have a Statement will have a We organise conferences, workshops and are able to These refer to several different genetic life-limiting What are the chances of inheriting CLN7 disease? statutory Education, Health and Care Needs assessment. arrange connections with other affected families. The BDFA neurodegenerative diseases that share similar features. An EHC Plan will be drawn up that is personalised to meet also coordinate a Small Grants Scheme that can provide Although the different forms of NCL are sometimes the education, health and care needs of the child. assistance for a range of needs. The BDFA has a Support described according to the age of the child at the onset CLN7 disease is inherited as an autosomal recessive and Advocacy Partner who is able to assist with many of of the disease, they are now better classified according to disorder, which means that both chromosomes carry It remains probable that many parents will continue to the issues highlighted in this document and can discuss the gene identified as the cause e.g. CLN7 (gene) disease, mutations in the CLN7 gene. Therefore both biological need guidance, understanding and support when trying each of them in greater detail and on a more personal basis. variant late-infantile (age of onset), CLN3 (gene) disease, parents of a child with this diagnosis will be carriers of the to navigate the process of statutory assessment and the The BDFA family folder can also provide further specific juvenile (age of onset). disease but physically unaffected by it. drawing up of the EHC Plan. information on CLN7 disease. The folder is free for all families Unaffected Unaffected and available to professionals at a cost of £25. Carrier Carrier A child born to parents What causes NCL? Father Mother The BDFA has expertise in this field and can be approached who both carry the by any parties seeking information or help. Please contact the BDFA Family Support and Advocacy autosomal recessive Partner via our Freephone Helpline: 0800 046 9832 or Since the first genes causing NCL were identified in 1995, mutation in the CLN7 The BDFA Educational Advisor may be able to provide email: [email protected] for further information over 400 mutations in 14 different genes have been described gene has a 25% (1 in 4) specific support and can be contacted and to order a copy of the family folder. that cause the various forms of NCL disease. Our cells contain chance of inheriting the via 0800 046 9832 email: [email protected] thousands of genes that are lined up along chromosomes. abnormal malfunctioning There are a number of local and national organisations that Human cells contain 23 pairs of chromosomes (46 in total). genes from both parents are also able to offer various forms of support and information Most genes control the manufacture of at least one protein. and developing CLN7 In what other ways can families be supported? that will be relevant to families. The BDFA can provide details These proteins have different functions and include enzymes disease. and information about them. that act to speed up molecular chemical reactions. The They will have a 50% (1 The realities of caring for a child who has CLN7 disease NCLs are caused by abnormal genes, which are unable in 2) chance of inheriting can place enormous strain on a family, both physical and It may also be appropriate for a referral to be made to a local to produce the required proteins. As a result, the cells do one abnormal gene, emotional. It will impact upon all members in numerous children’s hospice service, as this can offer an additional not work properly and this leads to the development of Non- Unaffected Unaffected Affected Affected Carrier Carrier CLN7 which would make them a ways and so being made aware that support is available to experienced and skilled source of holistic support. symptoms associated with these diseases. Disease carrier who is unaffected 25% 50% 25% by the disease. There is The information in this document is provided on the understanding that it is intended for general information purposes only, therefore the Batten Disease Family What specifically causes CLN7 disease? a 25% (1 in 4) chance of Association (BDFA) accepts no responsibility or liability for any other form of use, nor for circumstances arising from any unintended or unsanctioned use. the child being born with two normal genes and therefore The BDFA has made every effort to ensure that the information provided is appropriate and accurate at the time of publication. All decisions pertaining to care and treatment of an individual child should be managed, in conjunction with parents or legal guardians, by qualified professionals working for the appropriate being non-affected (not a carrier). health, educational and social services. The gene called CLN7 and/or MFSD8 (CLN7) was Some of the information contained in this leaflet is based upon chapters in “The Neuronal Ceroid Lipofuscinoses (Batten Disease) 2nd Edition” discovered to be the cause of disease in 2007, and lies on When it is known that both parents are carriers of the by Goebel, Mole & Williams (Eds), Oxford University Press 2011 and is used with permission. chromosome 4. It encodes a protein, MFSD8, which belongs abnormal gene, we refer to there being a 2 in 3 chance of Permission has also been granted for the inclusion of additional information sourced from Dr. Ruth Williams (NCL2012 Abstract Book, Clinical Summaries, 2012) to a large group of proteins, the major facilitator superfamily a child being a carrier, once it is established that they are (MFS). These proteins are found in cell membranes inside Contributors: BDFA Harriet Lunnemann QSW, Heather Band MSc, Barbara Cole QTVI, Matt Hobbs RN. unaffected by the disease. Advisors: Professor Paul Gissen, Scientific and Medical Advisor, Professor Sara Mole, Scientific Advisor, and around the cell and are involved in transporting small Clare Beesley PhD, Scientific Advisor. With support from Bluepepper Designs. molecules across these membranes. Based on this © Batten Disease Family Association, 2017(r) Registered Charity in England and Wales No. 1084908 - Scotland SCO47408 With any pregnancy, the probability of a child inheriting one knowledge, MFSD8 may also function in this way inside the or both genes from their parents is the same each time, BDFA, The Old Library, 4 Boundary Road, Farnborough, Hants. GU14 6SF cell however what it transports is not known at present. irrespective of any sibling’s 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 How is it diagnosed? are prone to erratic movements of their head (nods). They to posture, seating, skin and mouth care is essential and families should be offered support from various professionals may have difficulty sleeping and often become distressed children will require additional nutritional support that will attached to their local health, social, educational services around this time, usually without obvious reason. Their include consideration of a gastrostomy. and the BDFA Support and Advocacy Partner. Ideally a Children will probably have been seen by a paediatrician vision gradually deteriorates, with its loss being ultimately “Team Around the Child” will be formed, with one of the and paediatric neurologist, because of symptoms such as inevitable. professionals appointed as a Keyworker for the family. seizures.
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