They Told Me I Had A Perfect Baby | Raising Australia's Only Child With This Rare Condition

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Sara Ruggeri was told she had a perfect baby. She knew she didn't.

Her daughter Valentina is the only person in Australia ever reported to have hyaline fibromatosis syndrome. It's an ultra-rare genetic condition with between one and 200 cases recorded worldwide.

But the diagnosis took seven months. Seven months of screaming Sara couldn't explain. Tests that kept coming back clear. Doctors who told her she was overthinking it.

Sara walks us through all of it. A short femur at 32 weeks. A newborn screaming in pain. Months of 3am Googling. Then a lab in Perth found a gene variant no one had ever seen. The answer came with a sentence she refused to accept. No cure. No treatment. Manage her symptoms and good luck.

What she did next is why this episode exists. She went to an event she almost skipped. A professor spoke about gene therapy for another ultra-rare condition. She walked up to him afterwards. That conversation became a pathway to a treatment that will cost up to eight million dollars.

This one is about mother's instinct. About being dismissed. And about what happens when a parent refuses to hear no.

In this episode: Mother's instinct and the 32 week red flag

Hyaline fibromatosis syndrome explained

Why the search for a diagnosis is the hardest part

Medical gaslighting when doctors say nothing is wrong

Why genetic testing came back clear

Gene variants never reported anywhere in the world

Why "no treatment" is a funding problem

Early intervention from day one

Finding your village

A rare disease is not your child's personality

Living in the now after diagnosis

Valentina's Village and the $8 million

Filling your cup as a special needs mum

Connect with Valentina's Village: Instagram: https://www.instagram.com/valentinasvillageau/ Website: https://valentinasvillage.com.au/ Gala Event/ Ticket Link: https://www.trybooking.com/au/event/an-evening-of-hope-1624311 Fundraising / donation link: https://valentinasvillage.com.au/donate/

Connect with Rita: Instagram: https://www.instagram.com/winewithwitapodcast/ YouTube: https://www.youtube.com/@WineWithWitapodcast Spotify: https://open.spotify.com/show/2igo4o3aDACW150Al0aLr1 Apple: https://podcasts.apple.com/au/podcast/wine-with-wita-speech-pathology-parenting-support/id1743156009 Website: https://www.rsspeechpathology.com.au/ Connection Creates Communication waitlist: https://wine-with-wita.kit.com/connection-waitlist Wita's Weekly Wecap (newsletter): https://wine-with-wita.kit.com/09e84e6753

This episode is proudly sponsored by Dom Panino, Leichhardt. https://www.dompanino.com.au/

Wine with Wita is Australia's leading podcast for parents navigating life with children with communication difficulties, disabilities and additional support needs. Hosted by Rita Shamoun, speech pathologist and founder of RS Speech Pathology.

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The purpose of this podcast is to provide information. You must not rely on the information on this podcast as an alternative to speech and language therapy. You must always consult with a Speech Pathologist, GP and/or paediatrician if you have any concerns about your child's communication and/development.