Below is a brief list of links we have found useful. If you would like to add to the list, please email firstname.lastname@example.org If you are searching the internet for information, ask your doctor or genetic counsellor for suggestions about good sites relevant to your circumstances, so you are not wasting your time with inaccurate and often alarming information.
As well as supplier contact details can be found on the ILC Australia website
For further information please contact Yooralla head office – (03) 9666 4500 or email@example.com
A Parent’s Guide – A Guide to Living with ALD (Leukodystrophy)
Because She Can (includes Enza Dilettoso story and 29 other stories of unique Melbourne women by Marina Brbot)
Cracking The Code (Stephen and Sally Damiani with Leah Kaminski)
Living with Leukodystrophy – Free ebook download
Loie’s Disease – a children’s book about Leukodystrophy (and other publications by Maria Kefalas)
Sr Julie Thomas CSB OAM Biography 2016 link from old website, pdf also uploaded
Find a range of support, from in-home personal care to support at work or in the community. The support you receive is entirely up to you and is most effective when you get creative. Think about what you want to achieve and the skills you want to develop, and how a worker can support you to do that. Are you looking for a social coach? Workplace mentor? Swimming teacher? Study buddy? Match with support workers who meet your needs and share your interests.
Offer a carer advisory line, carer support groups, counselling, training and workshops.
Carer Gateway is a platform to connect with Carer Gateway service providers. They can talk through your needs and assist with finding local services and supports.
Carer Gateway offers a free counselling service for carers to assist them with their carer role.
The Companion Card enables a person with a disability, carer free entry into participating venues and events. To qualify for a companion card, the person with a disability needs to demonstrate they have a life-long disability and require high-level support to attend community activities or events.
It can be difficult for children to obtain a Companion Card as they would generally have their parents accompany them to community activities anyway. If you are applying for one, it is advisable to ask your paediatrician to complete the form.
The card provides discounts and benefits to carers such as free weekend travel on public transport and concession fares during the week.
Disability and Carers – Department of Social Services
Carer Allowance is a means-tested income supplement available to people who provide daily care and attention in a private home to a person with a disability or a severe medical condition.
Carer Payment provides income support to people who, because of the demands of their caring role, are unable to support themselves through substantial paid employment. Carer Payment is income and assets tested and paid at the same rate as other social security pensions.
CARRIER SCREEN RESOURCES
https://www.vcgs.org.au/tests/prepair + helpful brochure:
Expanded Carrier Screening
Newborn screening: (Australian websites)
https://www.vcgs.org.au/tests/newborn-bloodspot-screening + helpful brochure:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/newborn-screening plus helpful video:
Prenatal Screening (during pregnancy)
This website describes the different types of screening and testing that are available during pregnancy:
This is a quiz that can help you make decision about prenatal screening:
This is American but handy video:
Australian Genomics Health Alliance
Integrating Genomics into Healthcare
Program Co-ordinator Mackenzie’s Mission & Massimo’s Mission
Genetic Health Queensland
Global Leukodystrophy Initiative (GLIA)
Sequencing and array-based solutions for analysis of genetic variation and function.
Melbourne Genomics’ Education team has produced an interactive infographic on the genomic sequencing process – highlighting the types of tests available, pre- and post-test guidance and including downloadable learning resources for health professionals. You may wish to pass this to your GP. This free online resource is now live and available for health professionals. You may wish to pass on to your GP.
NSW Health Centre for Genetics Education
NSW Health Clinical Genetics
The Genetic Link
Assisting individuals and families with the ‘human’, non clinical side of genetic diagnosis is common place in our day to day activity: assisting in access to services, connecting with others, education, advocacy, support and information.
The Gene Home – Courtesy Bluebird Bio
Gene Home is only for residents of the USA and is sponsored by Bluebird Bio Inc, however it is a great source of understanding and learning about gene therapy.
Guardianship Division (Contact differs between States and Territories)
NCAT’s Guardianship Division makes decisions about people who have a decision-making disability.
The Guardianship Division determines applications about adults who are incapable of making their own decisions and who may require a legally appointed substitute decision maker.
Guardianship and Financial management are different, for more information refer to:
Power of Attorney
You would use a general power of attorney to appoint someone to make financial decisions on your behalf for a specific period or event, such as if you’re going overseas and need someone to sell your house or pay your bills.
It’s used while you can still make your own decisions and ends once you no longer can (i.e. you lose capacity) you may move to Enduring Power of Attorney.
Can be managed by a solicitor or refer to the link below.
Enduring Power of Attorney
An enduring power of attorney is a legal agreement that enables a person to appoint a trusted person – or people – to make financial and/or property decisions on their behalf and only commences when you lose capacity to make these decisions.. An enduring power of attorney is an agreement made by choice that can be executed by anyone over the age of 18, who has full legal capacity.
Can be managed by a solicitor or
A will is a legal document which comes into force after your death. The document clearly sets out your wishes for the distribution of your assets after your death. Everyone 18 and over who has the mental capacity to make a Will should do so. If you die without a Will you are said to die intestate and legalities become complex.
Can be managed by a solicitor or refer to the link below.
Advanced Care Directive
This document advises healthcare treatments you would like to have or refuse, should you be in a position where you are seriously ill or injured and unable to make or communicate. It is about Advanced Care Planning and can only be made by an adult with decision making capacity.
For more information to each state refer to:
Recognition of interstate powers
Comparative table may be viewed on the following:
Appropriate housing is one of the many unmet needs for our clients and others living with a disability. I
Our Family Advocate has researched some websites of assistance to those who wish to explore housing options. It is always best to gain accurate and updated information from the housing providers themselves, though we are here to assist where we can.
Clients over 65 years of age
An Aged Care assessment is organized by an Aged Care Assessment Team (ACAT, or ACAS in Victoria) and is required for a person who needs to be approved for Government-funded services including; an aged care facility, home care, transition care or respite. Several aged care homes no longer provide respite (If you require respite then call individual facilities to find out if they provide respite).
Rural and remote
For those living in rural and remote areas, appropriate housing and home care services are limited and families often don’t have wide choices with which service providers, housing options or Aged Care facilities they may access. Families often have no choice but to travel long distances to visit their loved ones. This places a huge strain on families and it often helps if the facilities have family gatherings so families may build rapport with staff and other residents’ families. These peer support networks often provide families with some peace of mind knowing their loved one is being supported by other caring people.
Deciding on housing
When exploring housing options, try to make the time to visit the house or facility several times to gain some insight into the culture, environment, staff and the care provided. It is not only the aesthetics of the building you should be considering, it is the care offered to your loved one, the quality of the food, daily menu, access to your or other medical officers, the provision of internal or external allied health and palliative health care professionals, internal and external social activities. As a previous RN in charge of community housing and residential care facilities, I have always encouraged people to chat with other family members and residents and ask questions. Staff are often willing to answer questions and if they don’t know they should be directing you to someone who does, such as the house or facility manager.
In September 2018, Prime Minister Scott Morrison announced a Royal Commission into Aged Care. You will be pleased to know that young people in Residential Aged Care facilities and the issues related to this cohort are a high and early priority for the Royal Commission.
The NDIS may be able to provide extra assistance to scheme participants, such as a Local Area Coordinator to make contact and discuss a person’s needs with housing providers, and funded support co-ordination to assist sourcing appropriate housing options.
NDIS housing information
For those clients 65 years and under wishing to access an Aged Care facility, NDIS is the initial provider to contact.
Young people entering Aged Care
All providers I have had conversations with were generous with their time and pleasant to speak with so please do not hesitate to give them a call if you have any questions.
INFORMATION AND SUPPORT
SWAN (Syndromes Without A Name)
Provides information and support to families caring for a child with an undiagnosed or rare genetic condition for which there is no active face to face peer support group. Offer family days, morning teas, parent dinners, workshops, and online virtual events.
Too Peas In A Podcast
Listen to Mandy and Kate laugh (a lot) and cry as they chat with each other and friends about parenting multiples with disabilities and additional needs. This podcast has the potential to “normalise” what it is like to care for a child with a disability and will not disappoint.
Source Kids is an online and print magazine that has been developed to deliver important information to those caring for and working with these children and young individuals. There are many parent stories and resources to help parents who care for a child with a disability.
Mytime groups provide an opportunity to meet, socialise and share information with other parents and family carers of children with disabilities.
Abstracts for the 43rd Human Genetics Society of Australasia Annual Scientific Meeting
Information platform to all aspects of Adrenoleukodystrophy and the world wide registry for ABCD1 mutations.
Babies born with Adrenoleukodystrophy (ALD) are neurologically normal at birth. However, early diagnosis of boys with Adrenoleukodystrophy can lead to life-saving interventions.
Use for inclusions such as Professionals and Leuko types, surveys.
ALD Connect: Their Mission is to improve health outcomes for patients with adrenoleukodystrophy (ALD) by empowering patients, raising awareness, and accelerating the translation of scientific advances into better clinical care. Every patient deserves a healthy life, every clinician hopes for the tools necessary to keep their patients healthy, and every scientist dreams of discovering the medical breakthrough that will eliminate disease. ALD Connect was established to unite patients, clinicians, and scientists from around the world with a common goal: to improve the lives of ALD/AMN patients by providing an open framework to deliver scientific breakthroughs to the patients who need them.
Diagnosis, prognosis, and treatment of Leukodystrophies
Orphanet – The portal for rare diseases and orphan drugs
If you download on Orphadata the rare neurological disease classification, you can search for all diseases linked to Leukodystrophy ORPHA:68356
United Leukodystrophy Foundation (ULF)
Works to establish a communication network among families; as well as increases public awareness and acts as an information source for health care providers by promoting and supporting research into causes, treatments, and prevention of the Leukodystrophies. They also offer option for a second opinion.
Massimo’s Mission Program and The Leukodystrophy Clinic
@ Murdoch Children’s Research Institute (MCRI)
Mission Massimo Foundation
MLD – Cure MLD
Cure MLD is a global network of patient advocates and non-profits dedicated to helping families impacted by metachromatic leukodystrophy (MLD). We are here to connect you with resources, information, support, and others dealing with MLD. Support for this site comes from Chloe’s Fight, Love for Loie,Gavin Flying for a Cure, the Calliope Joy Foundation, and other MLD families around the world.
Remember The Girls (X- linked carriers)
Their mission is to raise awareness of the many issues facing female carriers of x-linked recessive genetic disorders; to provide a forum for x-linked females to share their stories, ask questions, provide and receive emotional support, and develop friendships; and to advocate for increased attention of the medical community to the physical and emotional issues of females who carry x-linked disorders.
The National Disability Insurance Scheme (NDIS) provides funding for ‘reasonable and necessary’ supports which help people with a disability to:
- achieve their goals
- become more independent
- take part in social and community activities
- have the opportunity to enjoy an ordinary life.
To receive support under the NDIS you must:
- be registered prior to your 65th birthday
- be an Australian citizen or a Permanent Resident or hold a Protected Special Category Visa
Funding under the National Disability Insurance Scheme is decided through the National Disability Insurance Agency.
For further information refer to:
The Australian Centre for Grief and Bereavement
https://www.grief.org.au/ has recently launched a telehealth bereavement counselling service which gives people access to a qualified bereavement counsellor. This is an important resource at any time but especially now, when families may be unable to support one another or even spend time with their dying loved one.
The CareSearch Project consolidates online palliative care knowledge for health professionals, people needing palliative care and their families, and for the general community.
Palliative Care Australia
https://palliativecare.org.au offers a range of resources to carers, patients and health professionals. There is a portal for each group to access specific resources, and plenty to download and access when necessary. This site has up to date information on care for people in palliative care during the COVID 19 pandemic.
https://www.palassist.org.au/ is a palliative care information and advice service, providing support from nurses and allied health professionals online and via telephone 7 days a week.
Young people transitioning to adult services
This resource provides palliative care information for families and carers of young people as they transition from paediatric to adult health services.
Palliative care resources | Agency for Clinical Innovation (nsw.gov.au)
Bear Cottage NSW
Bear Cottage Sydney Children’s Hospitals Network is a very special place that’s dedicated to caring for children with life-limiting conditions and their families.
Hummingbird House QLD
Hummingbird House is Queensland’s only children’s hospice. We provide short break stays, family support services, creative therapies, and care at the end of life, for children with life-limiting conditions and their families. Hummingbird House is a place where kids can be kids, families can reconnect, and precious memories can be created.
Adults’ Respite – Cara will work with you to meet your choices under the NDIS. Here’s what some of the current NDIS children and teens are using: Home & Community Support, Kids Club, Camps for Kids, Children’s Respite, Specialist Services.
Find out more 08 8347 4588, https://www.cara.org.au/about-cara
Very Special Kids VIC
Very Special Kids cares for children with life-threatening conditions by providing a children’s hospice and professional family support services. We help approximately 900 families across Victoria with ongoing support from diagnosis all the way through to recovery or bereavement.
Hannah’s House WA
Genetic and Rare Disease Network WA
TRANSPORT AND ACCESS
Victorian government subsidies for transport and accommodation
Parking Scheme (Federal)
Disabled persons parking permit application forms are available to be downloaded from local council websites. The form is required to be completed by the individual or nominated person, a specialist medical practitioner or clinical psychologist for people who have intellectual disabilities, or by a medical practitioner for all other disabilities. Please note that in some states, disability parking permit forms can be downloaded from your local municipalities website.
Master Locksmiths Access Key (MLAK)
MLAK keys are able to be purchased by people with a disability which will open all toilets, playground equipment and other facilities fitted with a lock that uses the special MLAK cylinder.