Syndromes Without A Name (SWAN) Australia ABN: Tel: Website:

Transcription

1 Syndromes Without A Name (SWAN) Australia ABN: Tel: info@swanaus.com.au Website:

2 DEFINITIONS What is a syndrome? A syndrome is a pattern of features that are recognised as occurring together in a person and that have a single cause. These features can be symptoms the person experiences or signs a health professional observes. The presence of features of a syndrome tells the health professional to look for other features. What is a sign? A medical sign is a feature detected by a doctor during a physical examination. What is a symptom? A feeling or observation an individual notices about their own body, such as pain, fatigue, nausea. What is a genetic condition? Any health problem caused by a change in a person s genes or genetic material. What is a medical diagnosis? A medical classification of an individual s health problem. By making a medical diagnosis, health professionals can then understand the likely underlying cause of the health problem. What is an undiagnosed condition? Doctors will sometimes say that a child has an undiagnosed rare condition or an undiagnosed genetic condition when they assess that the child s features strongly suggest the child has a genetic condition but they are unable to find a diagnosis for certain characteristics or symptoms. There are thousands of rare genetic conditions. Some of these have only been reported in fewer than five children. Many still do not have a diagnostic test available, meaning the diagnosis relies on the doctor recognising this rare condition based on searching databases and medical literature, as well as their own medical experience. WELCOME TO SWAN AUSTRALIA Welcome to SWAN Australia Inc. SWAN is a newly established not-for-profit Incorporated Association. Our aim is to offer support to parents, carers and friends of people whose child/children have an undiagnosed genetic disorder/syndrome or an extremely rare condition for which there is no support group. For ease of reading, this brochure uses the term parents throughout but includes carers and friends. We want to ensure that nobody has to walk this journey alone and that information and professional services are accessible to everyone affected by a genetic condition. We want to raise awareness of genetic conditions among the broader community. Services and support in our community are often allocated on the basis of a diagnosis. People without a diagnosis can miss out. We need to pressure the government and private sector for better services, resources and information for our families. Together we can unite to improve the lives of all those affected. THE HISTORY OF SWAN SWAN UK commenced as a charity in 1999 and became a formal project in A chapter in the USA was established as an informal e-support group in 2001 and formally became a not-for-profit organisation in SWAN Australia was established towards the end of 2012 by a parent who was motivated to set up a formal support group in Australia with the aim of assisting other parents and carers who have a child/children with an undiagnosed condition. Why were there support groups in the UK and USA but not in Australia? We needed a support group to fill a void in the system for all those people awaiting a formal diagnosis and to support them on their unknown journey by providing information, emotional support and advocacy on their behalf. So with the assistance of another SWAN parent and some genetic counselling students, SWAN Australia was born! 2 1

3 OUR PURPOSE IS TO: Offer emotional support for parents/carers who have a child/children without a diagnosis. Be able to listen to parent/carer stories and share the good and not so good parts of parenting a SWAN child. Provide information to parents/carers who have a child/children without a diagnosis. Advocate for more funding for genetic research so more testing is available, turnaround time on testing is decreased and more accurate results are obtained. Advocate for better resources and pathways for our child/children without a diagnosis. OUR GOALS ARE: Based on the needs identified by SWAN UK, SWAN Australia aims to: Develop a community of families with undiagnosed genetic conditions for mutual support and information sharing. Develop a network of health and social care professionals with expertise in undiagnosed conditions. Increase awareness and understanding of undiagnosed genetic conditions. WHAT S IN A DIAGNOSIS? Sometimes when there is no formal diagnosis, we struggle to find the right direction to take and which direction will best assist our child/children s growth and development. Our children s medical conditions, physical condition, cognitive processes and behaviours might not make sense. It may be difficult to connect and engage with our children. We may struggle to know what to expect from our children and what the future might hold for them. For these reasons, finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A diagnosis can take as many as five years and sometimes may never happen, especially with rare conditions. In addition, some experts say that between 30 and 40 percent of children with special needs do not have an exact diagnosis. This can be very difficult for parents, who may seek a diagnosis for many reasons. Some parents want a diagnosis to be able to access a doctor who has special knowledge of the diagnosed condition. Unfortunately, because many of these conditions are extremely rare, there is often not a doctor who has seen many (or any) similar cases. For this reason, it may take a doctor a long time to match symptoms to a possible diagnosis What is genetic counselling? Genetic counselling is a communication process that aims to provide an individual or parents with current information and supportive counselling regarding problems in growth, development or health that may have a genetic basis. This can assist parents and individuals to understand and adjust to the diagnosis of a genetic condition (or lack thereof) and its implications, and to make informed decisions. Genetic testing can be offered when appropriate, and genetic counsellors may assist in the making of informed decisions with regards to these genetic tests. Genetic counselling is practised in a non-directive manner. This means that individuals will not be directed or told what decision they should make. Genetic professionals are not in the business of trying to persuade people. Their role is to explain the facts as clearly as possible, giving the person or parents accurate information on their options in a way that they can understand, and helping them to make up their own minds. While genetic counselling is not a form of psychotherapy, genetic counsellors are trained to offer support and refer parents on to other sources of assistance where required. In some situations this may include social workers and counsellors or psychologists who specialise in specific areas relevant to the needs of the families they see. Source: Sheets/Genetic-Counselling-FS3/view) A diagnosis (or at least a familiar diagnosis) can explain a lot to people. It also makes filling in all the paper work a lot easier. 4 3

4 A combination of different or atypical characteristics may make the diagnosis harder to recognise. In many genetic conditions, many of the symptoms overlap with other features of other syndromes. Different syndromes can affect children in different ways and to different degrees. This in itself can be a hindrance when trying to identify a syndrome. Some characteristics of a syndrome may not develop until later on in life, hence the delay in confirming a diagnosis or the withdrawal of a diagnosis. PARENTS VIEW ON THE IMPORTANCE OF A DIAGNOSIS We want diagnosis for medical implications more than anything I think of my other children, and wish they have healthy children without the threat of their children developing an undiagnosed genetic disorder I get tired of the questions and attitudes of people What do you mean she does not have a diagnosis, she must have something to explain why she is the way she is The terms Global Development Delay or Intellectual Disability do not explain or sum up my child HOW MANY CHILDREN DO NOT GET A DIAGNOSIS? Geneticists estimate that in Australia, that approximately 60% of children they see with syndromic features do not have a diagnosis. This is only an estimate as factors such as misdiagnosis and late diagnosis can skew the data. In the UK it is estimated that 30-50% of children with learning disabilities and 50% of children in contact with genetics departments may never get a diagnosis to explain the cause of their differences. TYPES OF GENETIC TESTING SNP microarray (which is commonly called snip array ) and genomic microarray testing both refer to the common genetic test for children with syndromic features without a diagnosis. This test has superseded chromosome or karyotype tests. 6 WHY IS A DIAGNOSIS IMPORTANT? A diagnosis may not be important for everyone. It may put limitations on your child/children. For others, the impact of medical implications might be important, especially if the family is thinking of having more children. A diagnosis may be able to explain unanswered questions. It may be a relief to know your child s behaviour or medical condition is not a result of your parenting skills or something you did while you were pregnant. A diagnosis might break down barriers. It may be easier to apply for funding if you can tick a box about your child s syndrome. It might be easier to plan for your child s future if you have a diagnosis for your child. You might want to know when your child s development may start to plateau or what stage in life they might reach their full potential. Will they walk or talk? What skills might they develop? You may want to consider what medical implications a diagnosis might bring for your child and how best to prepare for your child s situation. It can be an emotional time and a period of high anxiety when you are waiting for test results to come back. Test results may come back negative but your child could still have the syndrome they were tested for. It is only when advancements in genetic tests are made that a more accurate result may be achieved. It could explain your child s development delay or medical needs. Being told your child is undiagnosed doesn t tell you anything, except that your child doesn t fit into any of the familiar syndromes. It can be disappointing, frustrating and confusing. How can you find out more about your child/children s condition when you don t have a name for what you are looking for? If you are planning more children, getting a diagnosis can help you understand the chance of the condition recurring in the future. Genetic testing may be offered for subsequent pregnancies. WHY HAVEN T I GOT A DIAGNOSIS? It may be that your child is the only one in the world that possess those particular signs, symptoms and characteristic. The obscurity of a condition means it can be difficult to diagnose. 5

5 However, although having consultations with a range of specialists and seeking out a range of services and resources might seem frustrating at the time, it is important. Everyone has their niche area and everyone has something to offer. In the end, everyone is working for the best interests of your child. WHAT CAN WE OFFER PARENTS/CARERS? A hub where other SWAN parents and carers can share their experiences and journeys with others. Informal advice and assistance with finding out information about some of the challenges we might face along our children s paths. Support for parents/carers of children without a formal diagnosis to help them with the unfamiliar path they will take. SUPPORT In terms of support, we offer: Workshops Quarterly newsletters Other parents to talk to Members forums to discuss different topics that relate to having a child/children without a diagnosis Information and resources WHAT CAN WE DO? Spread the word and let the broader community know there are a large number of children without a diagnosis. Form close links with health and social care experts both in Australia and overseas so they can create a more positive experience when liaising with parents/carers of undiagnosed children. Lobby both the private and public sectors to create awareness and attract more funding for genetic research. Microarray testing measures dosage, (i.e. how many copies of this bit of DNA does this child have?) Microarray tests are used to diagnose approximately 15% of children without a genetic diagnosis. The turn around time for this test is approximately three to five weeks. Parents/carers who have a child with syndromic features and no diagnosis may want to consider having one performed. Whole genome sequencing (also known as exome sequencing, next-gen sequencing) is a new test where a person can have all the genes in their body sequenced (which means spelled out). It is not a test for dosage (i.e. how many copies) but is looking for spelling mistakes. For example, if a gene should read ABCDE but actually reads ABCCE, this would be picked up by whole genome sequencing, not by microarray testing. This test is coming into clinical practice but is not currently available in Australia. It is likely to help us get answers for maybe 30 to 50% of children without a diagnosis, so is very exciting, but because it spells out every gene, it can give information that perhaps individuals didn t want to know, such as gene mistakes that can cause adult-onset diseases like cancer and Alzheimers disease. Doctors and scientists are currently trying to design filters to learn about all the genes and filter out the information some families would prefer not to know about. HOW OFTEN SHOULD WE HAVE A GENETICS CONSULTATION? Genetics is a fluid science and new discoveries and research are taking place every day. It is still evolving and testing gets more accurate over time. Geneticists recommend a consultation every two years. WHY DO WE HAVE TO REPEAT OUR STORY? The current disability sector in Australia is fragmented and many clinical, allied health and support services may be engaged to provide the overall care for someone with a disability. Different parties involved in your child s care may not always communicate effectively or efficiently with other specialists or services. Hopefully the introduction of the DisabilityCare Australia will improve this. Support others who are in similar situations to ourselves. 8 7

6 Be assertive: you are your child s best advocate. This may mean making numerous phone calls to access a service. Try not to let anyone put limitations on your children: they will tell their own story. WHY WE NEED TO ADVOCATE FOR SYSTEMIC CHANGE Under the current system, parents/carers can feel: Isolated Frustrated That the system has failed Disappointed Under the current system there is: A perceived lack of empathy Misunderstanding Fragmentation Unfairness Lack of resources and funding Poor education Not enough support Parents/Carers can have difficulty accessing: Healthcare Genetic testing Educational support Social support ADVICE FOR SWAN PARENTS/CARERS Focus on the positives and try not to compare your child to others, especially when they don t meet the age appropriate developmental milestones. Accept your child for who they are and enjoy them! It is too easy to get bogged down in the therapy and medical treatment and other parts of our children s routine. Don t be afraid or embarrassed to ask for help if you need it - if you don t look after yourself, who will look after your child? Counsellors are a great way to unload, don t be afraid to seek their services. Remember that no one knows what the future will bring, so live for today not for tomorrow. Seek out like minded people and identify with other SWAN parents/carers we can all help each other. Remember that nobody knows your child like you do. You are their expert so don t doubt yourself. If you would like to use the internet for further information, ask your doctor or genetic counsellor for suggestions about good internet sites so that you are not reading inaccurate and often alarming information. Social media can provide support and information to you but be wary of comments that might seem out of place. If they upset you don t stay connected with these groups. Identify what services you are entitled to and use them. Home care and respite services from your local council is a good place to start. Don t be afraid to ask questions or write things down. It is easy for information to wash over your head when you are in an appointment. You might want to revisit the information you need to absorb later. Taking a support person is also a good option. People can interpret situations and information differently. Keep a record of your child s specialists reports, letters and test results. Your GP should be kept in the loop as well. Scanning documents is a great way to store them. Keeping a copy of your child s progress is a great way to track their development. Every child will tell their own story and develop at different rates. Photos and videos are an easy way to record events and milestones. 10 9

7 QUESTIONS AND NOTES This page is left blank for you convenience. WE ADVOCATE FOR: More funding into genetic research. Better communication between medical professionals and parents/carers seeking a diagnosis (we don t always want to be the ones doing the follow up on test results, reports and letters). Awareness within the community that genetic research and testing is poorly funded, hence the delay in seeking test results. Faster turnaround of test results. Many tests are conducted overseas because it is cheaper; however this adds to the length of time taken to get results and adds to the cost of the healthcare system. Less waiting time to see a professional. Opportunities to engage in data studies to improve research and education. Support for families who are between a rock and a hard place when they are first made aware that there is something wrong with or different about their child/children but nobody can tell them exactly why their child/children are behind in their development. Increased availability of information for families who do not have a diagnosis. A more functional approach to disability support services as opposed to on an individual diagnosis basis. WHY DONATE TO SWAN AUSTRALIA? In the future we would like to be able to: Employ a counsellor to assist SWAN parents/carers. Produce and publish literature to support parents. Develop social media tools to create awareness of our important work in the SWAN community

8 QUESTIONS AND NOTES This page is left blank for you convenience. 13

9 Many thanks to the following people for their professional guidance in producing this brochure: - Doctor Sue White Clinical Geneticist & Dysmorphologist - Louisa Di Pietro Group Leader GSNV - Lynley Donoghue Genetic Support Coordinator GSNV This brochure was produce by: Syndromes Without A Name (SWAN) Australia Tel: info@swanaus.com.au Website: This brochure is endorsed by Genetic Support Network Victoria