raising_rareness (Lyndsey Walsh)

It’s always a pleasure to meet with other members of the #RareCommunity As well as advocates, researchers, friends & allies of a community that is #StrongerTogether

@22qirl.bsky.social @rarediseasectn.bsky.social @cassandradinius.bsky.social

Of course I will always advocate for more research, because research provides us with a powerful tool to advocate for better supports, treatments & care for #PLWRD & their families. We need the evidence…..

It was fantastic to see some of the amazing research that is being conducted showcased in a poster display at the conference.

Really enjoyed Mary Desmond Vasseghi presentation on PPI involvement from a family perspective. It resonated….
Encouraging to hear the perspectives of both families & health care professionals on PPI. The outcomes will always be better if real meaningful PPI can be established & built upon.

Of course this doesn’t happen overnight & it requires a great deal of trust, openness, transparency, clear communication & always listening to the voice of the centre of #RareResearch There are significant barriers & constraints but we have to work together to remove these.

I attended the RDCTN Rare Disease Research Conference 2025 & the stand out theme for me was the need for collaboration. The need for healthcare professionals, patients, families, advocates, researchers, industry & government to work together to create research around the needs of the person.

Happy St. Patrick’s Day 💚🌈☘️

Me and my daughter created this message this morning on her AAC communication device. It’s important to hear all voices in amongst the craic agus ceol 😁

Symbols courtesy of PCS from Tobii Dynavox® for TD Snap

This IWD , we honour all women & girls navigating life with a rare condition, disability, & caregiving roles. Let’s continue to amplify their voices, advocate for their rights, & build a future where no one is left behind.

#InternationalWomensDay2025 #RaisingRareness #Equality4All

Non-speaking autistic females are also at increased risk of abuse, particularly when they are unable to report this. It reinforces the urgent need to prioritise their right to communication, advocacy, & autonomy.

Every girl should have the right to express herself, make choices, & be involved in decisions about her life. The lack of accessible AAC systems often robs non-speaking autistic females of this fundamental right, leaving them unheard in conversations about their own care, education, & future.

Non-speaking does not mean non-thinking. Many non-speaking autistic females have so much to share but without adequate access to communication tools eg. robust AAC systems, they can be restricted in doing so.

Non-speaking autistic females live at the intersection of ableism & gender bias, where their voices are often unheard.

Empowerment means recognising their voices, spoken or non speaking.
It means championing the rights of all women & girls, especially those whose stories are too often left out of conversations about equality.

They asked lots of questions & little sister explained ‘That’s her voice, she uses that to communicate’. They thought it was the coolest thing 😎

I remember a time when big sister went into her preschool last year & little sister proudly said ‘This is my sister’. Big sister began using her AAC communication device & all the little children were amazed.

The UN theme resonates as we have 2 young daughters — one is non-speaking & living with a rare condition, & the other is a young carer, growing up curious, compassionate, kind, and is learning to be accepting of difference. Different not less.

A vibrant digital illustration celebrates International Women’s Day, dated March 8th, 2025. The background is purple with the phrase “Happy International Women’s Day” in bold black and pastel pink-blue gradient text at the center. Below, the words “Rights. Equality. Empowerment.” are written in strong black lettering. The illustration features diverse women and girls who are AAC users engaged in STEM activities, education, and teamwork. Some are working with books, technology, and puzzles, while others are collaborating or teaching. The image highlights inclusivity with women of different ethnicities and abilities, including a female wheelchair user. Surrounding the text and illustrations are decorative golden-orange leaves. The Instagram handle “@raising_rareness” appears in the top left corner.

Another digital illustration celebrating International Women’s Day with the same purple background and central text: “Happy International Women’s Day,” followed by “March 8th, 2025” and the phrase “Rights. Equality. Empowerment.” in bold black font. Instead of various illustrations of women, the lower half of the image features a diverse array of raised hands, symbolizing unity and empowerment. The hands vary in skin tones, accessories, and clothing, reinforcing the theme of inclusivity. The Instagram handle “@raising_rareness” appears in the top left corner.

Two young girls with light skin, both wearing pink puffer jackets, walk into a building with a row of colorful arcade claw machines visible through the glass doors. The older girl, on the left, has long blonde hair with a lavender bow and is wearing black leggings with a Nirvana smiley face print. The younger girl, on the right, has brown hair tied back with a small white hair clip and is wearing pink trainers. Overlay text in bold pink and purple reads “International Women’s Day - 8th March -” with the Instagram handle @raising_rareness displayed in a small blue bubble at the bottom right corner.

On International Women’s Day, let’s celebrate women & girls across the globe. Let’s believe in them & give them the same chance to realise their potential. 

The UN Theme is “For ALL Women and Girls: Rights. Equality. Empowerment”

Lovely to meet so many families, advocates, healthcare professionals, researchers, & students 🙏

Kudos to Anne Lawlor and Angela Carey for bringing this event to Waterford

#IndividuallyRareCollectivelyCommon #1in17

@hselive.bsky.social

Care Coordination really supports people living with a rare condition and their families. We have a template, so let’s #LeaveNoOneBehind

Really enjoyed Aine’s presentation on what it was like for her growing up, finding her confidence, and how acceptance is so important to her.

She proudly showed me her recent gold medal for bowling 🎳🎉 #KeepShining

It highlighted the multi system nature of 22q11, the needs in the health system, the community, and educational needs, the need for continuation of care into adult services, the importance of what this means to the families & the evidence of what is working well 🙌 #Meaningful

So interesting to hear from a person living with a rare condition, a carer, and a care coordinator. It focused on the workings of the 22q11 paediatric clinic and how this is also a #TransferableModelOfCare #HearDifferentPerspectives

Three people standing together in front of the “Meet the 1 in 17” banner. This photo includes the woman in the floral dress with the medal, the woman in the grey blazer, and the man in the plaid shirt with the green lanyard. They are smiling at the camera with their arms around each other. The table with food is visible to the left.

Three women standing together indoors in front of a green banner that reads “Meet the 1 in 17.” They are smiling at the camera. One woman is wearing a black floral dress and a medal around her neck. The woman in the middle is wearing a grey blazer with a red badge, and the woman on the right is wearing a cream sweater and a long purple skirt. There is a table with food to the side and a large artwork on the wall behind them showing children standing against a textured wall.

Four people posing together in front of the “Meet the 1 in 17” banner. The group includes the woman in the red jacket, the woman in the floral dress with the medal, the woman in the grey blazer, and the man in the plaid shirt with a green lanyard. They are all smiling and standing close together.

A group of five people posing in front of the same “Meet the 1 in 17” banner. They are all smiling. The group includes two women in red and navy dresses, the woman with the floral dress and medal, the woman with the grey blazer, and a man in a plaid shirt and green lanyard. The table with food is visible on the left side of the image, and the large artwork of children is on the right side.

Really enjoyed the inaugural Rare Disease Day event at @UHW_Waterford The first hospital in Ireland to hold such an event to mark such an important day 🙌🦓🎉

It was a truly inspiring event that sparked many conversations on the potential going forward.

#RareDiseaseDay2025

#UltraRare #LeaveNoOneBehind #RareDiseaseEquity #RDD2025

But by integrating ultra-rare diseases into care pathway development, we create a more inclusive, equitable, and compassionate healthcare system. Just because a condition is not ‘prevalent’ it doesn’t necessarily mean that the needs are not similar.

Read more here - ojrd.biomedcentral.com/counter/pdf/...

Key healthcare professionals involved could include:
👩‍⚕️ Nurse Specialists
🧬 Clinical Geneticists & Genetic Counselors
🩺 Medical Social Workers
🧠 Psychologists
🏋️‍♂️ Physiotherapists
🗣 Speech & Language Therapists
🖐 Occupational Therapists
🥗 Dietitians

Common needs across rare diseases:
✅ Faster, more accurate diagnoses
✅ Coordinated, lifelong care from childhood to adulthood
✅ Access to genetic counseling and psychological support
✅ Better integration of primary, hospital, & community care
✅ Support for education, employment, & social inclusion

A 2022 study in Ireland mapped out 29 care pathways to improve coordination and support for patients and families for some of the ‘prevalent’ rare conditions. It is clear from the study that there are;

Based on the Rare Barometer Survey 2021 ‘People living with a rare disease think their quality of life could be improved by integrated health care and social care’. Furthermore, ‘improving coordination of health care’ is also important.