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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Jul 28

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.👏

Reuters @reuters.com · Jul 28

US FDA approves PTC Therapeutics' metabolic disorder drug reut.rs/3IInrx0

US FDA approves PTC Therapeutics' metabolic disorder drug

The U.S. Food and Drug Administration has approved PTC Therapeutics' oral drug to treat a rare inherited metabolic disorder that prevents the body from properly breaking down certain amino acids, the company said on Monday.

reut.rs

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Jul 24

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🙏

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Jun 28

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 · Jul 12

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

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Jun 30

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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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Jun 30

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🙏🏃‍♂️

Reposted by Bernadette Sheehan Gilroy

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Jun 28

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 · Jun 28

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 · Jun 3

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! 🍨🍦

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · May 12

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 · Apr 27

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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Reposted by Bernadette Sheehan Gilroy

StockTitan @stocktitan.net · Apr 25

#PTCT PTC Therapeutics Receives Positive CHMP Opinion for Sephience™ (sepiapterin) for the Treatment of Children and Adults Living with Phenylketonuria (PKU)

https://www.stocktitan.net/news/PTCT/ptc-therapeutics-receives-positive-chmp-opinion-for-sephience-tm-glhi5j3cwtpm.html

Major Breakthrough: PTC's Rare Disease Drug Sephience Receives Key European Backing for PKU Treatment

New PKU therapy Sephience gains crucial European support with comprehensive label for all ages. Immediate launch planned across 30 countries. See market impact.

www.stocktitan.net

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Mar 10

m.independent.ie/regionals/ke...

Kerry lights up for Rare Disease Day 2025

FAMILIES living with the often heartbreaking effects of rare disease are urgently calling on the State to deploy a fully resourced genetic service to help diagnose children earlier, faster and with gr...

m.independent.ie

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Mar 1

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 · Dec 25

Many happy returns Ann x

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Dec 25

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 · Dec 20

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 · Dec 20

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.

https://doi.org/10.1002/jimd.12831

#VisualAbstract #AI

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Dec 13

Wonderful interview on RTE Drivetime yesterday with my friend Colm Galligan, parent to Chloe who has PKU - #HTA process for Enzyme Replacement Therapy for #PKU in Ireland.

Please take the time to listen.

#LivedExperience #AccessToMedicines
#HTA #PKUIreland #Hope

www.rte.ie/radio/radio1...

Campaign for new drug for rare genetic disorder called PKU

Back in May, we spoke to Dr Colm Calligan, the father of Chloe Calligan, a 9 year old girl with a rare genetic disorder called PKU. There is currently no cure and despite recommendations, Ireland's he...

www.rte.ie

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Dec 10

Our Beautiful County #Kerry #Ireland #WildAtlanticWay

youtu.be/1DKbw_v0Pr8?...

Discover Kerry a place to Visit, Live & Work

YouTube video by Discover Kerry

youtu.be

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Dec 6

Grateful for the opportunity to speak about collaborative research with Agata Bak @Metabolicos_es and @hagedorn_tobias @official_espku on the role of #DigitalTools for #PKU in Germany, Ireland & Spain with @VincianeQ @EU_Brain at #EAN2024 @PKU_Ireland

www.vjneurology.com/video/6cbdra...

Using digital tools in rare brain disorders: benefits, drawbacks, & patient perspectives - VJNeurology

In this interview, Vinciane Quoidbach, MSc, European Brain Council, Brussels, Belgium, and Bernadette Sheehan Gilroy, PhD candidate & rare disease...

www.vjneurology.com

Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Dec 5

"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...

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.

www.gimjournal.org

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Dec 1

@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

Reposted by Bernadette Sheehan Gilroy

Health Research Charities Ireland @hrci.bsky.social · Nov 25

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 · Dec 1

"HSE could save money if it paid for this drug" #Palynziq #HTA #EnzymeReplacementTherapy #PKU

pressreader.com/article/2822...

PressReader.com - Digital Newspaper & Magazine Subscriptions

Digital newsstand featuring 7000+ of the world’s most popular newspapers & magazines. Enjoy unlimited reading on up to 5 devices with 7-day free trial.

pressreader.com

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Nov 20

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?...

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

YouTube video by TEDx Talks

youtu.be

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Bernadette Sheehan Gilroy @sheehangilroy.bsky.social · Nov 20

Delighted to find pku family on here! 😊🙏

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