22Q11 Ireland

28/08/2026

"Patients, service users and staff strengthening our health service together”

HSE Dublin and South East has marked an important step in strengthening patient and public partnership with the establishment of its first Patient and Service User Partnership Council. The Partnership Council will bring patients, service users, carers, community representatives and staff together to help shape and improve health services across the region.

28/08/2026

"Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems."

Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. Approximately 85% of patients ...

27/08/2026

What’s your child’s biggest struggle before school?

The Understood Assistant is an AI tool that can help you make sense of what you’re seeing and build a routine that fits your child.

Click the link to try it today. https://u.org/4fH5YD4

27/08/2026

27/08/2026

Important topic!

27/08/2026

Will resonate with caregivers for sure.

27/08/2026

We recently remined you of our poster, presenting our work with students at the Julia Garnham Centre, which we shared at the ESHG conference in June. We thought we'd share the full poster with you all.

We'd love to hear what you think of this project. Let us know in the comments.

Poster abstract:
Rare disease affects fewer than 1 in 2,000 births. These diseases are often diagnosed during early childhood and are associated with a variety of intellectual, developmental and physiological impairments, resulting in huge emotional and logistical problems for affected families. The main components of available therapies concern the alleviation of symptoms (if possible) and counselling. There are thought to be >7,000 rare diseases affecting >300 million individuals globally posing significant problems for healthcare providers. To support the provision of counselling to patients and families affected by rare genetic disease, Unique, a UK based charity with international reach was established to alleviate the isolation of anyone affected by a rare disease, support and inform via the publication of disease information guides. By forming a strategic partnership between the Sheffield Children’s Hospital NHS Foundation Trust, Unique and the University of Sheffield, we took a co-creative approach to authorship to provide opportunities for academic growth of early career researchers and students, whilst ensuring efficient time management of senior clinicians to author new rare disease guides. Our co-creative approach generated 7 high quality patient disease information guides in a timely manner. This approach is financially sustainable and enhances the training and education experience of the next generation of genomic researchers/clinicians whilst rooting this with direct patient impact. This new approach provides a sustainable and scalable model through expansion of our current partnership, especially as more rare diseases are being identified everyday in this new era of genomic medicine.

27/08/2026

In association with Ireland’s Presidency of the Council of the European Union, Rare Diseases Ireland is bringing people together from across Europe to explore how we can accelerate the journey from rare disease research to innovation and adoption, with patients as proactive partners every step of the way.

Taking place in Dublin on 13 November, the event will explore the growing momentum towards a coordinated EU Action Plan for Rare Diseases, the role of the Biotech Act in strengthening European innovation and competitiveness, and what becomes possible when people living with rare diseases are true partners in research and innovation.

With the right policy environment, stronger coordination and meaningful patient partnership, we can shorten the path from discovery to adoption, helping promising research reach patients faster, and translating innovation into better outcomes for our community.

📅 Save the date: Friday 13 November 2026
📍 Radisson Blu Royal Hotel, Dublin, Ireland

More information, including the full programme and registration details, will follow: https://go.eurordis.org/eu-presidency-rdi

27/08/2026

Big reactions in 22q often build for longer than they appear to from outside. Learning to notice that build-up, what we call detective thinking, may open up more room in the minutes before things peak, rather than only after.

Calming Big Reactions is our new webinar, looking at why these reactions happen more easily in 22q (it's biology, not a discipline problem), how to read the early signs, and what tends to help once things are already big.

The recording is available to preorder now; watch whenever suits your week. A live Q&A also runs on 13 September if you'd like to bring your own questions.

Subtitles for the recording are available for most languages, on request.

Follow us for more on 22q. See the link in the comment section for more information.

25/08/2026

Pursuing your interests, passions, ideals, connections, communities, service, and a greater purpose is vital for your well-being.

🟥However, it's important to recognize that maintaining the same pace all the time is neither realistic nor necessary. While it's exhilarating to experience periods of rapid progress, life naturally ebbs and flows.

🟥There are moments when slowing down is not just beneficial but essential. Whether it's taking time to rest, recuperate, realign, or adjust your plans to prioritize other areas of your life, these pauses are crucial to renewing your energy, creativity, and passion.

🟥Persistence, a key executive functioning skill, plays a significant role in this journey. Persistence is not about maintaining a constant, fast-paced momentum but rather about consistently moving forward, even if that means taking smaller, slower steps. It's about recognizing that progress doesn't always look like a leap; sometimes, it's the slow, steady crawl that moves you closer to your goals. Persistence allows you to embrace these slower periods as necessary parts of the journey, knowing that every step—no matter how small or slow—is valuable.

🟥Rather than holding yourself to an unrealistic standard of always leaping forward, remind yourself that every step you take is enough. This includes the times when rest and recovery are your primary focus. In these moments, you're still progressing, still moving toward your goals, and that's something to be proud of.

🟥Self monitoring, which is key in persistence: https://www.theottoolbox.com/self-monitoring-strategies-for-kids/