Bernadette Sheehan Gilroy
@sheehangilroy.bsky.social
Lecturer Researcher Advocate
#PKU #LowProtein #BrainHealth #RareDisease
"Ní neart go cur le chéile"
The views and opinions expressed here are solely my own
#PKU #LowProtein #BrainHealth #RareDisease
"Ní neart go cur le chéile"
The views and opinions expressed here are solely my own
Pinned
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
dcusciencehealth.qualtrics.com/jfe/form/SV_...
📢 PLEASE RESHARE TO HELP US REACH MORE FAMILIES
#InternationalPKUDay2025 #CommunityDriven #ResearchThatMatters
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🙏
More than one family member per household may participate. Best completed on a laptop/PC🙏
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.👏
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
July 28, 2025 at 10:03 PM
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.👏
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🙏
More than one family member per household may participate. Best completed on a laptop/PC🙏
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
dcusciencehealth.qualtrics.com/jfe/form/SV_...
📢 PLEASE RESHARE TO HELP US REACH MORE FAMILIES
#InternationalPKUDay2025 #CommunityDriven #ResearchThatMatters
July 24, 2025 at 11:14 AM
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🙏
More than one family member per household may participate. Best completed on a laptop/PC🙏
*** UPDATE: We made our 1000.00 target. THANK YOU 🙏🙏***
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🙏🏃♂️
July 12, 2025 at 6:25 AM
*** UPDATE: We made our 1000.00 target. THANK YOU 🙏🙏***
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🙏🏃♂️
June 30, 2025 at 10:52 PM
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
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
dcusciencehealth.qualtrics.com/jfe/form/SV_...
📢 PLEASE RESHARE TO HELP US REACH MORE FAMILIES
#InternationalPKUDay2025 #CommunityDriven #ResearchThatMatters
June 28, 2025 at 7:46 PM
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
dcusciencehealth.qualtrics.com/jfe/form/SV_...
📢 PLEASE RESHARE TO HELP US REACH MORE FAMILIES
#InternationalPKUDay2025 #CommunityDriven #ResearchThatMatters
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
dcusciencehealth.qualtrics.com/jfe/form/SV_...
📢 PLEASE RESHARE TO HELP US REACH MORE FAMILIES
#InternationalPKUDay2025 #CommunityDriven #ResearchThatMatters
June 28, 2025 at 7:46 PM
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
dcusciencehealth.qualtrics.com/jfe/form/SV_...
📢 PLEASE RESHARE TO HELP US REACH MORE FAMILIES
#InternationalPKUDay2025 #CommunityDriven #ResearchThatMatters
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! 🍨🍦
June 3, 2025 at 6:42 PM
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! 🍨🍦
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
#BuildingLeadersNotFollowers #RareDisease #Research #Collaboration
May 12, 2025 at 5:40 AM
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
#BuildingLeadersNotFollowers #RareDisease #Research #Collaboration
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.
@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.
April 27, 2025 at 10:45 PM
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.
@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.
Reposted by Bernadette Sheehan Gilroy
#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
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
April 25, 2025 at 1:00 PM
#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
https://www.stocktitan.net/news/PTCT/ptc-therapeutics-receives-positive-chmp-opinion-for-sephience-tm-glhi5j3cwtpm.html
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
March 1, 2025 at 2:03 AM
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
Best wishes for a Happy and Healthy Christmas and New Year from our family to yours.
#Fate #Gingerbread #LowProtein
#Fate #Gingerbread #LowProtein
December 25, 2024 at 10:25 AM
Best wishes for a Happy and Healthy Christmas and New Year from our family to yours.
#Fate #Gingerbread #LowProtein
#Fate #Gingerbread #LowProtein
Reposted by Bernadette Sheehan Gilroy
Any of you working in a diagnostic lab? Frustrated that no one values your gatekeeping role? Read this. We do value you!
December 20, 2024 at 3:39 PM
Any of you working in a diagnostic lab? Frustrated that no one values your gatekeeping role? Read this. We do value you!
Reposted by Bernadette Sheehan Gilroy
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
https://doi.org/10.1002/jimd.12831
#VisualAbstract #AI
December 20, 2024 at 6:08 PM
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
https://doi.org/10.1002/jimd.12831
#VisualAbstract #AI
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...
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
December 13, 2024 at 6:04 PM
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...
Please take the time to listen.
#LivedExperience #AccessToMedicines
#HTA #PKUIreland #Hope
www.rte.ie/radio/radio1...
Discover Kerry a place to Visit, Live & Work
YouTube video by Discover Kerry
youtu.be
December 10, 2024 at 10:23 PM
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...
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
December 6, 2024 at 1:25 PM
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...
www.vjneurology.com/video/6cbdra...
"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...
#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
December 5, 2024 at 12:27 AM
"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...
#PKU #AccessToMedicines
www.gimjournal.org/article/S109...
@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
@INFO_NCPE
So grateful Colm, Emer, Chloe, David for highlighting the frustration felt by so many of us in the PKU community.
#IndividualisedCare #LifeLongCare
December 1, 2024 at 9:25 PM
@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
@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
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
November 25, 2024 at 1:06 PM
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
"HSE could save money if it paid for this drug" #Palynziq #HTA #EnzymeReplacementTherapy #PKU
pressreader.com/article/2822...
pressreader.com/article/2822...
PressReader.com - Digital Newspaper & Magazine Subscriptions
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December 1, 2024 at 8:09 PM
"HSE could save money if it paid for this drug" #Palynziq #HTA #EnzymeReplacementTherapy #PKU
pressreader.com/article/2822...
pressreader.com/article/2822...
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/KX9xvZgZ7Hc?...
The Empowering Role of Advocacy: A Parent's Perspective | Bernadette Sheehan Gilroy | TEDxTralee
YouTube video by TEDx Talks
youtu.be
November 20, 2024 at 6:22 PM
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/KX9xvZgZ7Hc?...