iiinova — where your digital self keeps evolving

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 28/07/2025

Excited for the PKU community and look forward to the day when everyone gets access to this innovative treatment for #PKU Congratulations to all who made it happen.👏

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 24/07/2025

Whether you're directly involved in PKU management or not, your perspective contributes to a fuller understanding and may inform processes such as access to medicines, service provision + More than one family member per household may participate. Best completed on a laptop/PC🙏

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 12/07/2025

*** UPDATE: We made our 1000.00 target. THANK YOU 🙏🙏***

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 30/06/2025

Thank you for your generous donations for @pkuireland €570 raised for new #PKU projects such as the development of our new community website to support children and adults with PKU and their families. We also had the opportunity to help raise awareness at this fun event🙏🏃‍♂️

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Reposted by Bernadette Sheehan Gilroy

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 28/06/2025

If you are a family member of someone with #PKU on the island of Ireland, your voice matters. Link to access 👉 dcusciencehealth.qualtrics.com/jfe/form/SV_... 📢 PLEASE RESHARE TO HELP US REACH MORE FAMILIES #InternationalPKUDay2025 #CommunityDriven #ResearchThatMatters

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 28/06/2025

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 03/06/2025

Delicious 😋 #Vitaflo #ProteinFree ice cream with 6 simple ingredients. Grateful for the gift of an ice cream maker that makes it just the right consistency! 🍨🍦

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 12/05/2025

Privileged to learn, network and contribute @ERDERA_org #TeddyKids training in Athens on behalf of @RAiNAllIreland to promising young #RareDisease researchers from across Europe. #BuildingLeadersNotFollowers #RareDisease #Research #Collaboration

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 27/04/2025

Honored to represent @PKU_Ireland at the Vitaflo Metabolic Family Conference 2025, one of the largest gatherings of Ireland's metabolic community in recent years. Heartfelt thanks to Amy, Claire, Suzie, Elisa, Neil and the Vitaflo team for organising such an outstanding event.

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 01/03/2025

Delighted to celebrate #RareDiseaseDay2025 with families at Ashe Memorial Hall in Tralee, Ireland. Special thanks to Kerry County Council and Mayor of Tralee @mikeysheehy.bsky.social and Cllr Angie Bailey for supporting the event. #LightUp4RD #RareDiseaseAwareness

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 25/12/2024

Best wishes for a Happy and Healthy Christmas and New Year from our family to yours. #Fate #Gingerbread #LowProtein

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Reposted by Bernadette Sheehan Gilroy

Sally Ann Lynch @sorchainenil.bsky.social · 20/12/2024

Any of you working in a diagnostic lab? Frustrated that no one values your gatekeeping role? Read this. We do value you!

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Reposted by Bernadette Sheehan Gilroy

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 20/12/2024

Interesting new #PKU publication exploring the use of AI to review descriptive language work. The authors find a difference between patients and controls and see a notable variation between those with high and low Phe levels. doi.org/10.1002/jimd.12831 #VisualAbstract #AI

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 05/12/2024

"We strongly recommend lifelong maintenance of Phe ≤360 μmol/L for optimal intellectual outcomes and for reduced teratogenicity, utilizing all available and necessary dietary, pharmaceutical, and patient-educational modalities" #PKU #AccessToMedicines www.gimjournal.org/article/S109...

gimjournal.org

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

To replace an existing clinical practice guideline for the diagnosis and management of phenylalanine hydroxylase (PAH) deficiency.

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 01/12/2024

@PKU_Ireland continue to wait for HTA decision on #Palynziq for #PKU 3 yrs after full submission to @INFO_NCPE So grateful Colm, Emer, Chloe, David for highlighting the frustration felt by so many of us in the PKU community. #IndividualisedCare #LifeLongCare

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Reposted by Bernadette Sheehan Gilroy

Health Research Charities Ireland @hrci.bsky.social · 25/11/2024

Sharing our starter pack of charities working within health, medical and social care research in Ireland. Please send a DM if your org would like to be added! go.bsky.app/2iqvvqh

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 20/11/2024

What happens when a baby gets a positive heel prick test in the first week of life? How would you cope with your child's diagnosis? Navigating my #PKU journey. Please SHARE to help #RaiseAwareness of a challenging and commonly misunderstood rare condition. youtu.be/KX9xvZgZ7Hc?...

youtu.be

The Empowering Role of Advocacy: A Parent's Perspective | Bernadette Sheehan Gilroy | TEDxTralee

YouTube video by TEDx Talks

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · 20/11/2024

Delighted to find pku family on here! 😊🙏

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