22q Foundation Australia and New Zealand
The Foundation is made up of a group that consists of individuals with 22q11.2 Deletion Syndrome, parents, grandparents, siblings and carers of individuals with 22q11.2 deletion Syndrome as well professionals and multidisciplinary staff and researchers.
The Foundation was founded by the late Dr Tony Lipson of the Children’s Hospital Westmead, NSW. Dr Lipson helped parents establish the first support group in the world for individuals with the syndrome. The foundation has been run for many years by countless volunteers who have given their time to help other families also walking this same path.
A Story of a Medical Termination by Zena (Blog)
“To the newly bereaved parent,
Please know that you’re not alone. I want to share my story of medical termination.”
A personal story by Zena Mason, after ending a very much wanted pregnancy and saying goodbye to her first baby, Chloe.
http://sandsaustralia.blogspot.com/2016/04/a-story-of-medical-termination-by-zena.html
Also shared by MamaMia
https://www.mamamia.com.au/ending-a-much-wanted-pregnancy-spina-bifida/
A story of grief and healing: Efrem and Blandina (PDF book)
“At first, Efrem and Blandina’s only concern with their pregnancy was getting back to Australia safely after finding out they were pregnant overseas.
They checked in with a doctor who told them that they’d be fine to return home. He asked to keep in touch.
Over the coming weeks, like any new parents, Efrem and Blandina started imagining their new exciting future.
But, things took a sharp turn after their standard 13-week ultrasound. Their little one, who they had nicknamed 4.3 after a funny misunderstanding in an earlier check-up, had a neural tube defect. This condition was incompatible with life – meaning either their much-loved baby would be stillborn, or have a very short and painful life.
They made the painful decision to terminate their pregnancy out of their deep love for their baby’s wellbeing.
While we often understand grief as a result of stillbirth or during childhood, we don’t often talk about or hear about the grief felt by many other parents.
Termination of pregnancy and miscarriage brings all of the same feelings of loss and devastation, as parents grieve for a baby they never had a chance to meet, and for a life they never had the chance to love. Red Nose supports many different types of families who have experienced many different types of loss.
To help cope with their grief, Efrem and Blandina have turned their story in a book of hope and healing. Not only did they find this therapeutic, they also hope it will help other parents who have to make one of the most difficult decisions a parent can face.”
Their story is available now as a download from the Red Nose Grief and Loss Support Library.
Angelman Syndrome Association Australia
Our mission is really quite simple. We exist to support, inform, educate, network, promote research, and to advocate for families affected by Angelman syndrome.
We achieve this through:
SUPPORT AND ADVOCACY:
We support families on their diagnostic journey and through all stages of life, connecting with the AS community at a local, state, and national level. We develop and identify quality resources to help families in their day-to-day living.
We advocate with government on matters such as health, NDIS, and quality care, and contribute to Royal Commissions and proposed laws and regulations that impact our AS loved ones and their families.
EDUCATION:
We develop and provide resources to inform and educate AS families, medical and allied health professionals, educational providers, and the general public about Angelman syndrome.
RESEARCH:
We promote medical, therapeutic, and educational research that will benefit families and individuals with Angelman syndrome. We collaborate with the Foundation for Angelman Syndrome Therapeutics (Australia) to keep the community up to date with research and to encourage research in Australia.
FUNDRAISING:
We fundraise to provide support for Angelman syndrome individuals and their families in times of crisis, and to contribute to hosting our biannual conference.
AusDoCC
Recognition, Opportunities, Access and Resources (ROAR) for all people with a disorder of the corpus callosum.
AusDoCC is Australia’s national grassroots organisation, led by people with a DCC and their families – for people with a DCC and their families.
AusDoCC provides a range of programs that focus on connection, support and information including meet ups, conferences, online peer networking and more.
Australian Birth Stories (podcast)
A weekly podcast hosted by Sophie Walker, which showcases women’s first-hand accounts of their pregnancy and childbirth experiences in Australia.
“With over 4.7 million downloads, at ABS we want to educate and inform, but we also just want to share your stories, with no judgement and lots of heart. This is a podcast for first-time pregnant people, parents wanting to have better subsequent births, and birth enthusiasts who love to hear and tell birth stories. Entertaining, heartfelt, emotional and informative.”
Some episodes feature stories of prenatal diagnosis:
- Episode 92 – Sarah Jade – after a long and traumatic 33 weeks of pregnancy, Sarah let go of her second child Aksel, who had severe brain malformations. NB the first 40 minutes of this episode talk about Sarah’s traumatic birth experience with her first child
- Episode 198 – Annabel Bower – Annabel Bower received a prenatal diagnosis of severe hydrocephalus at the 20 week scan of her fourth child and ultimately decided to end her wanted pregnancy.
- Episode 206 – Nadia – Nadia’s first son, a boy named Pio, was diagnosed with a rare chromosomal abnormality (triploidy) and was born via cesarean at 20 weeks. She discusses her disbelief at the diagnosis and the subsequent grief of her loss followed by the healing arrival of her subsequent children.
- Episode 213 – Bianca Klingner-Walsh – At the age of 22, Bianca fell pregnant unexpectedly and navigated the complex reality of a Downs Syndrome diagnosis. Despite multiple health professionals advising her to terminate, she chose to keep her baby, journeyed through a tumultuous pregnancy and delivered him at 34 weeks via cesarean. Baby Oliver was born with a heart condition and spent 12 weeks in NICU before being transferred to Melbourne Children’s Hospital for life-saving surgery
Australian Birth Stories: Annabel Bower (podcast)
Episode 198 – Annabel Bower – Annabel Bower received a prenatal diagnosis of hydrocephalus at the 20 week scan, after a hemorrhage in utero. Annabel spoke of her need to change medical providers in order to receive the support and information she needed, before delivering her son Miles early and saying goodbye. Annabel also spoke of her pregnancy following her loss.
Featured on Australian Birth Stories:
“With over 4.7 million downloads, at ABS we want to educate and inform, but we also just want to share your stories, with no judgement and lots of heart.
This is a podcast for first-time pregnant people, parents wanting to have better subsequent births, and birth enthusiasts who love to hear and tell birth stories. Entertaining, heartfelt, emotional and informative.”
Australian Birth Stories: Bianca (podcast)
Episode 213 – Bianca Klingner-Walsh – At the age of 22, Bianca fell pregnant unexpectedly and navigated the complex reality of a Downs Syndrome diagnosis. Despite multiple health professionals advising her to terminate, she chose to keep her baby, journeyed through a tumultuous pregnancy and delivered him at 34 weeks via cesarean. Baby Oliver was born with a heart condition and spent 12 weeks in NICU before being transferred to Melbourne Children’s Hospital for lifesaving surgery.
Featured on Australian Birth Stories:
“With over 4.7 million downloads, at ABS we want to educate and inform, but we also just want to share your stories, with no judgement and lots of heart.
This is a podcast for first-time pregnant people, parents wanting to have better subsequent births, and birth enthusiasts who love to hear and tell birth stories. Entertaining, heartfelt, emotional and informative.”
Australian Birth Stories: Nadia (podcast)
Episode 206 – Nadia – Nadia’s first son, a boy named Pio, was diagnosed with a rare chromosomal abnormality (triploidy) and was born via cesarean at 20 weeks. She discusses her disbelief at the diagnosis and the subsequent grief of her loss followed by the healing arrival of her subsequent children.
Featured on Australian Birth Stories:
With over 4.7 million downloads, at ABS we want to educate and inform, but we also just want to share your stories, with no judgement and lots of heart.
This is a podcast for first-time pregnant people, parents wanting to have better subsequent births, and birth enthusiasts who love to hear and tell birth stories. Entertaining, heartfelt, emotional and informative.”
Australian Birth Stories: Sarah Jade (podcast)
Episode 92 – Sarah Jade – after a long and traumatic 33 weeks of pregnancy, Sarah let go of her second child Aksel, who had severe brain malformations. NB the first 40 minutes of this episode talk about Sarah’s traumatic birth experience with her first child
Featured on Australian Birth Stories:
“With over 4.7 million downloads, at ABS we want to educate and inform, but we also just want to share your stories, with no judgement and lots of heart.
This is a podcast for first-time pregnant people, parents wanting to have better subsequent births, and birth enthusiasts who love to hear and tell birth stories. Entertaining, heartfelt, emotional and informative.”
Australian X and Y Spectrum Support
Australian X & Y Spectrum Support (AXYS) help support individuals and families living with X & Y sex chromosome variants in particular; Klinefelter Syndrome/XXY, XYY, XXX, XXYY, XXXY, XXXXY and associated variants.
We are here to increase awareness and to inform the health and education sectors and broader community on what these X and Y sex chromosome variants are and the impact it has on individuals and families and how they can better support, guide and implement appropriate tools and treatment plans. We aim to ensure that everyone living with an X & Y chromosome variant has the opportunity to reach their fullest potential living a happy life with minimal impacts from possible health related issues.
We can offer a wealth of knowledge, advice, guidance and support but it’s important to note that we are not medical professionals. We can help direct you to find the right health care professionals that can give you supportive, knowledgeable and specific advice.
CDH Australia
We’re the only Australian charity providing support for families, friends and medical professionals affected by Congenital Diaphragmatic Hernia(CDH). We support families throughout their CDH journey; expectant parents of a baby diagnosed with CDH, families caring for a CDH child, adults with CDH and bereaved families. We seek to minimise the social, financial and mental health impacts of CDH.
WHAT WE DO
Some of the practical ways we help CDH families include:
• producing and distributing educational content about CDH
• facilitating face-to-face health and wellness forums for CDH families
• hosting awareness day picnics to raise funds and strengthen our community,
• providing support services through peer-matching and online support groups.
Our support service team members are parents with personal experience of CDH, who understand the issues families face and will support you with compassion and empathy.
Expecting a CDH baby booklet & care pack: https://cdha.org.au/expecting-a-cdh-baby/
Charcot-Marie-Tooth Association Australia Inc.
The Charcot Marie Tooth Association Australia Inc. (CMTAA) began as a Support Group in 1988, and was incorporated in 1990 as a registered charity.
The motivation to establish CMTAA Inc. was to meet the need for people with CMT to communicate with each other and provide mutual encouragement.
Over the years we have slowly “evolved” and are now moving forward at an unprecedented pace. In 2018, the National Committee proposed the Association become known as CMT Australia, this change was proposed and accepted at the 2018 National AGM.
Raising Awareness of CMT
We are:
Engaging with persons with CMT, their families, carers and the community. This occurs with contact with the National Office, face to face support gatherings, holding of a National Awareness day, on social media – Facebook and Twitter, publication of our Newsletter three times a year and this website.
Engaging with Medical and Allied Health Professionals in every State to raise their awareness of the condition, and to inform them of strategic options they can assist their patients with to enhance their quality of life.
Using data compiled for the ‘Reducing the Health Burden of Charcot-Marie-Tooth in Australia’ Report to approach Members of Parliament to raise awareness, and of the need for facilities to assist persons with CMT access services they need in one place to enhance their quality of life.
Through our Research Grants, attracting applications to fund research into CMT and engaging with the research community.
Acknowledging and promoting September: International Awareness Month for CMT.
CHARGE Syndrome Australia
CHARGE Syndrome Australasia was established in 1994 and is the only volunteer not-for-profit support group dedicated to improving the lives of individuals with CHARGE syndrome, in Australasia.
CHARGE syndrome is a complex syndrome of multi sensory impairments. Individuals have impaired hearing, vision, smell, taste, touch, proprioception and inner ear balance. Multiple disciplines are involved long term in the lives of these individuals; from medical intervention to communication strategies, sensory integration, behaviour management, therapy and education support. Unfortunately for families, many of our health and educational professionals do not fully understand CHARGE syndrome and the complexities of multi sensory impairment.
The Association is committed to improving this knowledge gap by raising awareness of CHARGE syndrome through its activities. We host biennial conferences, organise local networks and events (CHARGE Champions), provide outreach services to families and professionals (CHARGE Assist), and contribute to research.
Chayce’s Story (blog)
“Chayce James Phillipps-Lewis ~ 24/12/2020
First born child to Mark & Tayla Phillipps-Lewis.
CleftPALS NSW
CleftPALS is a volunteer based non-profit organisation of parents and professionals involved in the treatment of the cleft condition.
CleftPALS works most actively to support parents who have young children that have been born with a cleft. CleftPALS can assist with reliable and supportive information if an Ultrasound Detection of a cleft condition has occurred.
CleftPALS Vic
One in every 700 children is born with a cleft lip / palate.
CleftPALS Vic can help with support for families and friends and information about the cleft condition.
We are a group of volunteers – mostly parents and cleft-affected adults – who understand what parents and families are going through, and want to help.
We have Contact Parents throughout Melbourne and regional Victoria, regular support play dates, feeding equipment orders, regular newsletters, informative seminars and family fun days to help support you. We lobby government on behalf of cleft affected families, hold fundraising events, inform and educate the medical and general communities, and support cleft affected children in the Third World.
CleftPALS WA
CleftPALS WA is a voluntary support group consisting of parents of children born with a cleft, adults born with a cleft and professionals who care for children born with cleft conditions.
“Our motto is the sharing helps. We understand the difficulties, heartache and sometimes the shock that comes with having a child with a cleft lip/and or palate and are keen to help you as best we can.”
CMV Australia
CMV Australia is an organisation that has the mission to:
Empower and support families who have been affected by congenital CMV.
Raise awareness about congenital CMV through public education initiatives.
Collaborate with and facilitate Australian research projects.
The website includes information and the link to the CMV Australia – Family SupportFacebook group, with instructions for how to join.
Cri du Chat Support Group of Australia Inc.
The aim of this group is to provide information, friendship, and support to those who have a family member or friend with Cri du Chat syndrome or other anomaly of chromosome five.
The Cri du Chat Support Group of Australia is a voluntary group that originated in Melbourne.
While an unexpected diagnosis may feel frightening, we would like you to be inspired by the family stories that have been shared.
A message for new families: https://criduchat.org.au/family-support/