Prader-Willi Syndrome Australia
Prader-Willi Syndrome Australia pursues an improved quality of life for all people with PWS. We support better outcomes by bringing together people, resources and up to date information.
Our Vision
That society recognise, as individuals, all people with Prader-Willi Syndrome and acknowledge and supports their right to participate in all facets of community life.
Information from: https://pws.org.au/
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Remembering Juniper [blog post]
” I wanted to share our story, firstly to honour the life and death of our daughter, Juniper Alice. Her story deserves to be told. I also wanted to share our experience, in case any of our friends ever go through something similar in the future”
S.O.F.T. Australia
If you find yourself in the world known as Trisomy then we are here to help. SOFT Australia started in November 1996, in a small house in Kirrawee NSW. We are a small community of families supporting each other through the difficult journey of having a child living with, and potentially dying because of a Trisomy condition.
S.O.F.T. Australia exists to support families and individuals, without judgement in whatever way we can through a network of families who share similar experiences and professionals who wish to assist. We actively promote research into all aspects of trisomy, including causes, prenatal diagnosis, caring for a child with a trisomy condition, and the emotional well being of the family unit and extended family.
We have biannual family conferences. A time to get together have some laughs, educate ourselves and others, while meeting new people. We also try to incorporate some time for reflection on those we have lost and celebration of those still with us.
— From the S.O.F.T. website.
Sotos Syndrome Australasia
The Sotos Syndrome Australasia (Inc.) is a non-profit organisation that provides advocacy for Sotos Syndrome in Australasia. The Association aims to connect and provide support for families, carers and individuals affected by Sotos Syndrome, while endeavouring to increase awareness, understanding and acceptance of Sotos Syndrome within the medical community, education sector and general community.
Special: antidotes to the obsessions that come with a child’s disability (book)
“Special is an uplifting, candid companion for those in the early stages of navigating a child’s disability, offering honest, reassuring and relatable insight into a largely unknown (and so, initially terrifying) part of our world.
It features antidotes to the obsessions at the forefront of a newly minted special-needs parent’s mind: Why has this happened to me? Will I ever stop comparing my child to typical children? How will my relationship survive? Will I be able to work again? Should I have another baby? And the big one: What will my future look like?
Inspired by the author’s own crash-landing into special-needs parenthood, and shaped by her conversations with parents of children with wide-ranging disabilities, alongside specialists, psychologists and researchers, Special shares stories, guidance and simple coping strategies to soothe and surprise anyone whose life has taken an unexpected turn.”
(Blurb from https://www.venturapress.com.au/special)
Spinal Muscular Atrophy Australia Inc.
Receiving the diagnosis of Spinal Muscular Atrophy is one of the most devastating moments a parent and family can experience. However, over time you will learn to establish a new sense of normal; you will adapt finding new ways of doing things. You may find you have many questions regarding SMA care options and how to manage e person’s at times, complex care.
You are not alone,
we are here to support you.
Spinal Muscular Atrophy Australia Inc. is Australia’s peak body, providing Australians living with Spinal Muscular Atrophy and their families with best practice information care options, resources and choices for themselves or their children, when living with the condition.
Still a Mum by Meagan Donaldson (Book)
“Still a Mum is a wholehearted book on grief and losing a baby that provides wisdom and support through careful insight, helping you feel less alone.
What no parent wants to face: Meagan Donaldson was 23 weeks pregnant when tests confirmed that her unborn baby had a rare condition. Told the prognosis for their daughter was poor, they made a heartbreaking decision to say goodbye to their little girl. Soon after, Violet Grace was born. Still, but perfect.
However, her short life left a big impact on her parents—and a network of strangers across the world as her story and the wisdom gained from the experience was shared and a successful fundraiser was created in her honour.
Written whilst on maternity leave—with no baby and planning her daughter’s memorial instead of a baby shower—and in the preceding year, the author offers healing awareness through a fractured heart which helps readers understand pregnancy loss and grief.
Still a Mum is a story about loss, life and love and finding joy again after heartbreak. Shining a spotlight on the stigma that still exists around pregnancy loss, not just for the parents but for other family members as well.”
From the website of Meagan Donaldson: Still a Mum
Stories and images from the CleftPALS family (PDFs)
CleftPALS NSW offer some stories by parents and an adult with lived experience of a cleft.
On the page, you will find that Sophie’s story and Zara’s story both start after their cleft was found at the mid-gestation scan.
https://cleftpalsnsw.org.au/index.php/stories/
Syndromes Without a Name (SWAN)
Syndromes Without A Name (SWAN) Australia is a not for profit charity and the peak organisation supporting families who care for a child with an undiagnosed or rare genetic condition.
SWAN Australia knows there is a need to reach out and connect with other families who are on similar journeys to limit isolation. We understand what it is like not to have a diagnosis, to have been misdiagnosed or have a rare genetic condition. That is why our main objective is to provide peer to peer support through our various events:
• Family Days
• Parent Dinners
• Dad’s Group
• Mum’s Group
• SWAN Playgroup
• SWAN Grandparents Group
• Siblings Group (starting July)
• Workshops
We also do systemic advocacy around:
• Obtaining a diagnosis through genetic or genomic testing
• The NDIS
• Disability
• Health and hospitals
• Education
Other ways we support SWAN families:
• Provide care packs for SWAN families in ICU or those who are in hospital for long periods of time.
• Newsletters featuring a parent story and other news relevant for our families
• Social media support
• Buddy system
• Parent telephone support line
• Messenger support
We pride ourselves on our personalised service and will go that extra little bit for our members, particularly in times of need. We strive for all SWAN families to be well supported.
The agony of choosing termination for my baby who had foetal anomaly (article)
There is a silence around the death of a baby, and a greater hush around the issue of termination for foetal anomaly.
Laura Doward shares her life-changing experience.
https://www.theguardian.com/lifeandstyle/2021/nov/14/choosing-termination-baby-foetal-anomaly
The heartbreak of perinatal and infant loss (podcast)
A podcast for families caring for a child who is dying
“This podcast series focuses on the experience of parents of children who have died or are likely to have a short life. Despite advances in health care, children and young people still sadly die from a range of life limiting conditions. The parents in this series have been supported by palliative care teams to face multiple challenges in caring for their children. These parents bravely share the love and beauty of their children and the joy and sadness of their individual experiences. They hope their voices can support, inform, and better prepare other families who may need to face similar challenges.”
The link will open to the suite of podcasts.
Season 2, Episode 2: The heartbreak of perinatal and infant loss features two mothers who received life-limiting prenatal diagnoses and share their stories of moving through perinatal palliative care.
The Pink Elephants Support Network: TFMR shared stories (posts)
“Having to make the decision to terminate a pregnancy can leave you feeling more isolated than ever. Being able to read the stories of others who have walked a similar path to you can go along way in helping you feel less alone.”
The Pink Elephants Support Network provides the latest resources, information and peer-support for anyone impacted by early pregnancy loss. Using evidence, empathy and connection, our unique digital-first approach offers a single source of specialist support, whenever and wherever it’s needed — for anyone who has directly experienced it, for family and friends, corporate partners or healthcare professionals seeking proven ways to help.
Their TFMR Shared Stories page includes written stories from five parents who have experienced a termination after a prenatal diagnosis.
The Prenatal Bombshell (book)
“Finding out your unborn child has been diagnosed with a poor or fatal prenatal diagnosis is devastating news sure to reverberate through your family’s life forever. The emotional aspects of such a pregnancy and the practical implications of an adverse diagnosis are difficult to navigate.
The Prenatal Bombshell is a warm and understanding companion guide through the journey from diagnosis and beyond once you’ve decided to either continue or end your precious pregnancy.
Issues such as managing the pregnancy, delivery, termination, creating memories, future babies, and the long term impact of such a traumatic experience are all covered in detail.
The lived experiences of other women who have gone through this journey are also included to provide hope, support, and guidance through difficult times.
The Prenatal Bombshell does not attempt to convince women to make a particular choice about their pregnancy. It supports them from their choice onwards in a way that is honest, informative, and reliable. Filled with stories and testimonies, this is a helpful book to have during, and well beyond, a poor prenatal diagnosis.”
(Blurb from https://www.goodreads.com/book/show/25468233-the-prenatal-bombshell)
The Still Mama Tribe Podcast (podcast)
Hosted by two mothers who have experienced baby loss (one following a termination for medical reasons), the Still Mama Tribe Podcast ‘aims to educate and create a community of families and professionals who come together to break the stigma and shame of baby loss. This begins with speaking openly, and sharing the stories of empty arms.’ Some episodes feature stories of terminations for medical reasons.
- Season 1 Episode 10 – Kristen (available here) – at Nicholas’ 20 week ultrasound, Kristen and her husband received life-altering news about his development. He was later born sleeping following a compassionate induction.
- NB Not a first-person story, but Season 2 Episode 6 is a discussion with a sonographer around how they can engage in the process of delivering the terrible news of a baby’s death
Too Peas in a Podcast (podcast)
Too Peas in a Podcast is an Australian podcast hosted by Mandy Hose and Kate Jones, who chat, cry and laugh with each other and friends about parenting children with disabilities and additional needs.
Some specific episodes feature stories that include prenatal diagnosis:
- Prenatal diagnosis with pea friend Megan – Kate & Mandy talk with Pea friend Megan about the prenatal diagnosis she received when she was 14 weeks pregnant with her 4th baby, and the absolute roller coaster that followed. Megan was told that her baby had a hydrops fetalis, which was not compatible with life. Her baby also had several chromosomal abnormalities that would mean severe disability if she would make it to term at all. But by 20 weeks, all the fluid retention had disappeared and there was no sign of hydrops fetalis, nor of a number of chromosomal abnormalities that were found earlier in the pregnancy. Her baby had ‘just’ Down Syndrome. She ended up having her baby girl at 37 weeks and after some time in the NICU, she is now a very happy 2 year old. What a journey.
- Twin pregnancy, twin to twin transfusion – Mandy and Kate talk about being pregnant with twins, the prenatal diagnosis of Twin to Twin Transfusion Syndrome and the scary reality of giving birth before your due date
- Pea friend Alison – Kate & Mandy talk to super pea Alison. Alison speaks openly about her pregnancy with identical twins, the prenatal diagnosis of twin-to-twin transfusion, the birth of the twins at 27.4 weeks, the very worrying weeks and months after, and a kidney transplant which left her husband with a brain injury.
Trisomy 18 Foundation (USA group)
Vision
We envision a future where Trisomy 18 is a preventable and treatable condition and all parents have access to compassionate, knowledgeable care that respects the humanity and potential of their child diagnosed with Trisomy 18.
Mission
Our mission is to encourage the search for treatments and preventions of Trisomy 18, to educate and support medical professionals, and to create a caring community that embraces ALL families impacted by the Trisomy 18 diagnosis of a much-wanted child.
Before our founding in 2003, learning about Trisomy 18 syndrome was difficult for parents and the public—especially in the context of prenatal diagnoses for expectant parents. Working together with our community members, the Foundation’s efforts have led to many advances in how Trisomy 18 is understood and how health professionals respond to newly-diagnosed parents in the United States, but there is so much that still needs changing. And the need for investments in genetic research to identify pathways to treatments has never been greater.
We tirelessly advocate for research innovations and new approaches to the search for treatments and preventions that can save lives and dramatically reduce the incidence rate of Trisomy 18 conceptions and increase survival rates. We provide a supportive community for everyone impacted by Trisomy 18 syndrome and related disorders. We always have the latest and most accurate information, and we educate everyone—from patients and families to medical professionals and the general public—about Trisomy 18 syndrome and related disorders.
— From the Trisomy 18 Foundation website.
Two Peas in a Podcast: Prenatal Diagnosis with Pea Friend Megan (podcast)
Prenatal diagnosis with pea friend Megan – Kate & Mandy talk with Pea friend Megan about the prenatal diagnosis she received when she was 14 weeks pregnant with her 4th baby, and the absolute roller coaster that followed. Megan was told that her baby had a hydrops fetalis, which was not compatible with life. Her baby also had several chromosomal abnormalities that would mean severe disability if she would make it to term at all. But by 20 weeks, all the fluid retention had disappeared and there was no sign of hydrops fetalis, nor of a number of chromosomal abnormalities that were found earlier in the pregnancy. Her baby had ‘just’ Down Syndrome. She ended up having her baby girl at 37 weeks and after some time in the NICU, she is now a very happy 2 year old. What a journey.
Featured on Too Peas in a Podcast:
“Too Peas in a Podcast is a Podcast by Mandy Hose and Kate Jones.
Listen to Mandy and Kate laugh (a lot) and cry as they chat to each other and friends about parenting multiples with disabilities and additional needs.”
Van Wright Foundation
The Van Wright Foundation is a non-for-profit charity established in March 2012, by Collene and Phil Wright, the parents of Van Wright. In November 2011 at 15 months of age, Van was diagnosed with MECP2 duplication syndrome. There was so little information about this disorder at the time that even the medical team who gave the diagnosis had not heard of it. Getting a diagnosis was a struggle. From that point Collene and Phil vowed to raise awareness of MECP2 duplication syndrome and fund research so that a cure may be found.
Our focus is to raise funds for research into a cure, drive activities that will increase awareness, bring newly diagnosed families together and be involved in the establishment of a register of cases of MECP2 duplication syndrome.
We have connected with the medical community in Australia to ask for their assistance in raising awareness; Dr Carolyn Ellaway, Prof John Christodoulou, Dr Helen Leonard and Dr David Amor. Further afield in the USA, we have reached out to Dr Melissa Ramocki and Dr Huda Zoghbi.
We have established a relationship with Monica Coenraads, Executive Director of Rett Syndrome Research Trust in the USA http://www.rsrt.org, who is the primary beneficiary for our fundraising efforts. MECP2 duplication syndrome families the world over are fortunate to have the resource that is RSRT.