@CarrollJennifer, deputies, senators, @roinnslainte, @HSELive & numerous organisations joined the Oireachtas APG on #RareDiseases to mark #RareDiseaseDay2025
Thanks for your support!
Next step - STRATEGY PUBLICATION & IMPLEMENTATION!
Is F��idir Linn♥️♥️♥️
https://t.co/WAUKxFUgzz
🔊Published today in @TheLancet the results from APHENITY phase-3 trial on effects of sepiapterin on blood Phe concentration in patients with #phenylketonuria
👥 73% responders;≥15%⬇️blood Phe
📉 63% reduction of [Phe]
🤒 No serious/severe adverse events https://t.co/SJKsAb4Ysb
Sometimes we're so busy talking about medical challenges of living with a rare disease we forget to think about daily challenges of just getting on with life, or as Anne Lawlor @22Q11_Ireland would say "back at the ranch stuff".
Please share this survey with your network🙏
Spaces are still AVAILABLE for online focus groups next week!! These will be an informal 45min discussion around PKU. Any PKU patient >16 years or caregiver of a PKU patient <16 years can be involved. Please email me to get involved and for further information :)
Please help PhD student Annie Skidmore @AnnieSkidmore2 and complete this questionnaire on physical activity. This is for all people with PKU or their caregivers. https://t.co/chf7R8pdZ6
I was privileged to attend the launch this afternoon. Prioritizing people living with rare diseases is essential for the next government #CareForRare2024
Today we launch our manifesto. We're calling for people living with rare diseases to be a priority group for Government - we want strong political leadership.
Please read, share, and join us in pushing for change! #CareForRare2024
https://t.co/Wgjwk4C8nI
On the occasion of International PKU Day, E.S.PKU issued a statement regarding adults with PKU. Please share this statement so that it reaches as many people as possible. #PKUDAY2024#adultPKUawareness
https://t.co/856MrQQfE5
https://t.co/pVlgENZ7xf