Based on research from the Australian Paediatric Surveillance Unit, people living with rare disorders face significant challenges when navigating the healthcare system, such as:
It is important to recognise the perspectives of families with members that have a rare disease such as SATB2-Associated Syndrome. Many of these families feel isolated, under-supported and often face economic hardship due to the rarity of the condition. With this rarity comes an imbalance in support and access to services needed. As a result, it is important to recognise the role you have in these families’ journeys as they continue to support their family members and children. Within this role, health professionals from various professions help lay the foundation for families, through assessments and therapy to develop NDIS plans and access necessary services that would be scarcely available given the rarity of their genetic disorder.
Individuals with SATB2 need your expertise in genetic testing and your understanding of test results as parents may have been bounced around the healthcare system. So, getting a formal diagnosis may provide a clear diagnosis and some certainty for families and individuals with SATB2, especially since it is a rare disease.
Individuals with SATB2 need MRI and EEG scans because seizures are a common symptom of SATB2. Families and parents may require further explanation related to behaviours reminiscent in ADHD, ASD and OCD.
Individuals with SATB2 may require behavioural assessments as these individuals tend to exhibit social difficulty, hyperactivity and emotional regulation difficulties. Neuropsychological evaluations may be necessary given that learning and intellectual disabilities are common for people with SATB2.
Individuals with SATB2 may be assessed and referred to developmental paediatricians because they tend to exhibit developmental impairments related to sleep, hyperactivity language and learning.
Individuals with SATB2 need visual acuity assessments and visual function exams which will assist with Individualised Education Plans (IEP), and for assistance in informing materials necessary for social and daily living.
Families and individuals with SATB2 need your expertise in navigating the genetic condition, from analysis to diagnosis to living life with this rare disease, because of the barriers families may have faced with the healthcare system and the uncertainty associated with being diagnosed with a rare disease.
Individuals with SATB2 may need behaviour support assessments which informs support plans and cognitive and behavioural therapy.
Furthermore assessments from psychologists are important in informing NDIS plans.
Individuals with SATB2 require functional assessments to inform physical, cognitive, sensory, communication capacities and ADLs.
These assessments inform NDIS reports which can promote their access to assistive technology and home modifications.
Individuals with SATB2 require your support to develop and improve their physical and motor skills, as well as your guidance on the use of mobility aids and equipment. These interventions may be similar to your patients with cerebral palsy and ASD.
Individuals with SATB2 need your expertise in swallowing, drinking and communication difficulty assessments. AAC and speech therapy are important as communication difficulties are common in people with SATB2.
Individuals with SATB2 may need your advice on improved and balanced nutrition. This is because individuals with SATB2 may have sensitivities towards certain foods, which may be similar to the needs of your clients with ASD.
Families and individuals with SATB2 require your support with case management and service coordination, counselling and coping with adjustment to a disability, and accessing various methods of financial assistance.
Individuals with SATB2 need your expertise in developing programs that address the individual’s learning needs in order to help with their socialisation and play skills, independence relating to self-care and emotional skills, communication development, literacy and numeracy, and thinking skills.
Their needs may be similar to your clients with ASD, ADHD and intellectual disabilities.
Individuals with SATB2 need your expertise in examining challenging behaviours that fall outside of the age-appropriate range and reduce behaviours of concern.
Individuals with SATB2 require a range of support, including indoor personal care, education, therapy, social interactions and community access and participation.
Individuals with SATB2 have palatal abnormalities, including cleft palatal and high arched palate, as well as dental issues such as large teeth, so they require the team’s expertise and comprehensive management of all craniofacial abnormalities and associated conditions.
Kim’s daughter Scarlett was diagnosed with SATB2 Associated Syndrome in April 2020 at the age of 5. Like many others, the path towards Scarlett’s diagnosis was protracted and isolating. Once the diagnosis was received, a world of support and friendship opened up within the international SATB2 family which their family is grateful for. She hopes to be able to draw on this experience to help other families facing similar circumstances.
Kim began a degree in Occupational Therapy straight out of high school and although she ultimately chose a different career path, she brings to the Foundation an ongoing interest in Allied Health and a keenly developed sense of respect and empathy for fellow families with loved ones who have been diagnosed with SATB2 Associated Syndrome.
Prior to becoming a mum, Kim worked within the Buying and Planning departments of some of Australia’s most well known retailers including Rebel Sport, David Jones, Mothercare, and Babies Galore. Within these roles, she was able to utilise her organisational and analytical skills in the negotiation of contracts, procurement, and development of products, sales analysis, and stock allocation. She also used her project management skills to facilitate and coordinate the stocking of new stores. Kim hopes to put these skills to good use within the Foundation.
Kim developed a passion for being involved in charities at a young age. At the age of 16 she became part of the inaugural Junior Branch Management Committee at her local PCYC. She later moved into the Branch Management Committee and was involved in the governance of the club’s operations, development and implementation of local community projects, planning, and execution of fundraising events, and supervision of the club.
Kim lives in Bathurst with her husband Ross and their children, Scarlett and Jasper. She now divides her time between working in the hospitality business that Ross is the licensee of, caring for her family, and fussing over her large collection of succulents.
Isobel is a strategic communications, marketing and fundraising professional. She has over 17 years’ experience in the not-for-profit sector lifting brand awareness and revenue. This includes heading high-achieving communications, marketing and fundraising teams at national cancer charity, Redkite, and managing communications for the newly established organisation, Childhood Dementia Initiative.
Isobel brings to SATB2 Gene Foundation Australia experience in brand management, corporate communications, crisis communications management and developing communications strategies for all channels. She has a passion for creating content and sharing stories that matter. Her fundraising experience spans driving results across events, foundations, community fundraising and corporate partnerships — including extending one of Australia’s largest charity-corporate partnerships — and individual giving.
Working in the cancer space for 8 years, and more recently for a number of rare disease organisations, Isobel has had the privilege of meeting and interviewing families facing some of life’s toughest challenges. They have been inspiring and life-changing encounters that drive her to do her best for families.
Matt is an IT Leader with over 20 years experience in management positions, gained in multinational organisations in both Sydney and London. He has worked in the telco, media, advertising and consumer goods industries, and is currently working for BeamSuntory as APAC Regional IT Director.
A father of two, Matt’s youngest son Dylan was diagnosed with SATB2 Associated Syndrome at the age of 8 years old, in 2015. Dylan’s journey has been a difficult one – he had a cleft palate repaired at Great Ormond St Hospital in London at the age of 6 months; a squint in his eye repaired at the age of one year; and for many years had a diagnosis of Global Developmental Delay. Since moving to Australia in 2014, Dylan has attended a number of schools, and finding the appropriate therapies has proven an ongoing challenge.
Matt is passionate about setting up structures to support families with SATB2 individuals and to provide more targeted therapies and respite.
Matt lives in Sydney with his wife Asa, and their two children William and Dylan. When not caring for Dylan or working, Matt’s passions are music and reading.
Sarah is a registered occupational therapist with a clinical background in paediatric practice. She is currently works at the University of Sydney as a lecturer in the Bachelor of Applied Science (Occupational Therapy) program at the Sydney School of Health Sciences in the Faculty of Medicine and Health. She also provides occupational therapy services to children and their families.
Sarah received her PhD from the University of Sydney in 2015 and her research focuses on developing and evaluating psychosocial interventions to improve the social participation of children with developmental disorders. Sarah has a strong interest in research and promoting evidence-based practice so children receive the most up-to-date and effective healthcare. She supervises a number of honors and Ph.D. research students and collaborates with researchers nationally and internationally on a number of research projects. Sarah has experience in a range of research methodologies and leading research projects.
Sarah is a mother of three young children and is most passionate about partnering with parents as they support their children to grow and develop – and in advancing our knowledge of how best to help children and their families.
Natalie is a certified practising speech language pathologist and associate professor at The University of Sydney. Natalie is a senior fellow of the Higher Education Academy and co-editor of the International Journal of Speech-Language Pathology.
Natalie’s research and clinical interests span across child and adolescent language development and disorders. Dr Munro’s research interests include: 1) investigating individual differences in children’s speech, language and social skills development among learners who have developmental language disorder, ADHD and language-based learning disabilities, 2) intervention research and evidence-based practice to support children and adolescents with additional needs, their families, their educators and their communities.
Natalie completed her PhD in 2008 and a Graduate Certificate in Higher Education Studies in 2009. Natalie was awarded a University of Sydney Brown Equity Fellowship in 2013 and was the national tour speaker for Speech Pathology Australia in 2018. Natalie’s research collaborators include scholars from Australia, the United States, the UK and Hong Kong. Natalie is a mother of three daughters and is passionate about communication and participation for all kids!
Ryan is a lecturer in occupational therapy at Sydney School of Health Sciences in the Faculty of Medicine and Health the University of Sydney, with a clinical and research background in paediatric practice. He previously worked as a paediatric occupational therapist providing services to children and their families before moving to Sydney in 2010.
Ryan completed his PhD from the University of Sydney in 2015 on the investigation of everyday social experience in individuals with autism spectrum disorders. He has a strong research interest in understanding and supporting needs of children and adults with and without disabilities in real-life participation through exploring their quality of everyday life and psychosocial well-being. Ryan has experience in quantitative research and survey design, in particular collecting and analysing multilevel and longitudinal data. His current and future research will provide evidence about what services and supports are needed to address the needs of children and their families in their daily life.
Dave Parsons is a current Lecturer in the School of Allied Heath at Curtin University. Dave graduated from Curtin University with a Bachelor of Occupational Therapy in 2006. Dave completed his PhD in 2020 and conducts research in the area of hand and upper limb therapy, child health, telehealth, and tertiary education.
Dave is also the Allied Health Research Lead at St John of God Public and Private Hospital, Midland. The role has the responsibility of building research skills, capacity and culture within the Allied Health professions (occupational therapy, physiotherapy, speech pathology, social work, psychology, dietetics and podiatry). Responsibilities include consulting and supporting allied health providers on their research projects, assisting with student supervision, providing advice and input into the hospital research strategy, and building relationships between professions (including medical and nursing staff) to drive high impact research.
More to come
Dr Abbie Najjarine has been in private practice since 1990 giving him extensive experience in Lower Limb Biomechanics and the application of orthotic therapy. Known internationally as Dr Abbie, he has treated in excess of 150,000 patients in his clinics located in Australia and is a renowned international lecturer in Biomechanics and orthotic therapy. He is constantly invited to lecture and teach his unique ‘Najjarine Biomechanical Assessment System’(NBA System Previously known as the ‘Najjarine Assessment System’ (NAS) technique that he developed to train Podiatrists, Sports Medicine Doctors, Orthopaedic Surgeons, Rehabilitation Doctors, Chiropractors, Osteopaths and Physiotherapists, from all around the world. Dr Najjarine has trained over 50,000 practitioners world-wide.
In 1996 Abbie established the International College of Biomechanics as an educational institution that provide practitioners with increased knowledge in clinical biomechanics. The college is now known as the International Institute of Clinical Biomechanics. He is the author of the “Orthotic Revolution” and is in the process of finalising and launching is book on Advanced Clinical lower limb biomechanics which will be a full comprehensive guide designed to simplifies and add his own unique approaches and methods into an easy to follow set of principles and formulas, to create both a unique system for diagnosing biomechanical problems, and to introduce a dramatic advance in the therapeutic effectiveness of Orthotic devices and treatment modalities. Dr Najjarine is also the advisor to the China Research Rehabilitation Centre (CRRC).Its a charity organisation also that provides treatment to children with disabilities funded by the China government. Dr Najjarine was voted in 2019 to be the president of the International Association of Clinical Biomechanics in China, Taiwan, Hong Kong and Australasia. Dr Najjarine Has treated many children conditions from “growing pain’ Syndromes, Cerebral Palsy cases, SATB2, muscular dystrophy, delayed walkers, severely pigeon-toed cases, scoliosis cases and many more. Dr Najjarine is passionate about his work with children and wants to provide good foundation and provide stability control and balance.
Dr. Zarate is a Clinical Geneticist and an Associate Professor at the University of Arkansas for Medical Sciences and Arkansas Children’s Hospital. In 2014, Dr. Zarate started a research project that led to a report with the first cohort of patients with SATB2-associated syndrome (SAS). From there, he established a strong-long lasting relationship with the support group for this rare condition, created the initial dedicated SAS website (www.satb2gene.com), and launched the only available clinical registry for this syndrome. Through his leadership, Arkansas Children’s Hospital started a multidisciplinary international SAS clinic in 2017 that has now evaluated dozens of individuals from several countries. Dr. Zarate has published extensively on different aspects regarding this syndrome and activity leads and collaborates on several ongoing SAS-related research projects.
Dr Emma Palmer Clinician scientist at Sydney Children’s Hospital Network & University of New South Wales in Sydney, Australia.Emma’s research aims to find answers and solutions for people living with rare genetic conditions.
She believes every person has the right to access the best possible care and support, no matter how rare the condition they are living with.
She works with doctors to help them learn skills to think about rare diseases to fast track families moving to a diagnosis, and also to support families after a diagnosis in partnership with patient support groups.
She also does genetic research to help describe new genetic conditions and understand more about the natural history of genetic conditions: or in other words to help families understand the health and learning complications that may happen over a person’s lifetime.
She helps write management guidelines and is involved in research to find new treatments for genetic conditions.
Professor Iva Strnadová – Professor in Special Education and Disability Studies at the UNSW Sydney
Iva’s research aims to contribute to better understanding and the improvement of the life experiences of people with disabilities, especially those most marginalized, such as people with intellectual disabilities. Combining research with advocacy is essential in her research program, which builds on supporting the self-determination (including self-advocacy) of people with intellectual disabilities, and is grounded in an innovative inclusive research approach, in which people with intellectual disabilities are included in the role of researcher.
She has a particular research interest in the well-being of people with developmental disabilities and their families over the life span, diverse transitions in the lives of people with disabilities (particularly intellectual disabilities and autism), and using arts-based methods to allow students and adults with high support needs to have a voice about matters important to them.
After her daughter’s diagnosis with SATB2 in 2017, Dalal and her family connected with international families at a US conference in 2018 and was motivated to support families and their loved ones living with SATB2 in Australia. She brings to the SATB2 Gene Foundation Australia sound project management experience and the drive to advocate for this rare condition through research and collaboration with international affiliated partners and universities.
Her passion for supporting children with special needs flourished whilst undergoing further study, and she realised at that point that her own daughter, Naomi, would need her undivided care.
Prior to becoming a mother, Dalal completed a Diploma in Building Studies and a Bachelor of Construction Management. Dalal has worked in the construction industry for 10 years and has gained valuable experience on a range of complex civil, infrastructure, and government projects across Sydney.
In 2018 a Master degree in Education gave her the proficiency to understand children’s developmental and support needs.
Living in Sydney with her husband Ivan and two daughters Naomi and Esther, Dalal enjoys the close proximity of Naomi’s school and therapy services.
In her spare time, she loves to dance with her kids, cook for her family, and watch on in amazement as Naomi learns to communicate through AUSLAN.