NCBRS Worldwide Foundation - Nicolaides Baraitser

NCBRS Worldwide Foundation - Nicolaides Baraitser @ncbrsfoundation

3 months ago

As our #RareDiseaseDay #Takeover with @RareRevolutionM comes to a close, our work does not. We want to say a massive thank you to Rare Rev for giving rare conditions like #NCBRS a platform to shine. To our families: You are the heart of this foundation. To our supporters: You are the fuel. Join our mission: 1. Website: https://t.co/3O4GWmzvrw 2. Support: Follow us on Facebook and Instagram to stay updated on our next Global Gathering and research initiatives. 3. Donate: Help us continue funding vital family support programs. Together, we are making the world a smaller, friendlier place for everyone with NCBRS. @ncbrsfoundation #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙

RareRevolutionM's tweet photo. As our #RareDiseaseDay #Takeover with @RareRevolutionM comes to a close, our work does not. We want to say a massive thank you to Rare Rev for giving rare conditions like #NCBRS a platform to shine.

To our families: You are the heart of this foundation. To our supporters: You are the fuel.

Join our mission:
1. Website: https://t.co/3O4GWmzvrw
2. Support: Follow us on Facebook and Instagram to stay updated on our next Global Gathering and research initiatives.
3. Donate: Help us continue funding vital family support programs.

Together, we are making the world a smaller, friendlier place for everyone with NCBRS.
@ncbrsfoundation
#NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙

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3 months ago

NCBRS Worldwide Foundation - Nicolaides Baraitser @ncbrsfoundation

3 months ago

In the world of ultra-rare diseases, knowledge isn’t just power—it’s peace of mind. For #RareDiseaseDay, we are highlighting our #NCBRS Information Guide, a vital resource designed to support families from the very first day of diagnosis. With only approximately 330 confirmed cases worldwide, finding reliable information on Nicolaides-Baraitser Syndrome can be a challenge. Our guide bridges that gap by providing: 1. Clear details on mutations in the SMARCA2 gene and how they affect development. 2. Information on identifying traits, from distinctive facial features and prominent finger joints to the "happy" and social dispositions often seen in our community. 3. Practical guidance on navigating developmental delays and intellectual impairments. 4. Direct links to our private family groups where the real "experts"—our parents and caregivers—share their lived experiences. Whether you are a newly diagnosed family, a therapist, or a medical professional, this guide is built to ensure no one has to navigate NCBRS in the dark. View or download the guide here: https://t.co/I9LN4Qh2ej @ncbrsfoundation Learn more about us! https://t.co/3O4GWmzvrw #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙

RareRevolutionM's tweet photo. In the world of ultra-rare diseases, knowledge isn’t just power—it’s peace of mind. For #RareDiseaseDay, we are highlighting our #NCBRS Information Guide, a vital resource designed to support families from the very first day of diagnosis.

With only approximately 330 confirmed cases worldwide, finding reliable information on Nicolaides-Baraitser Syndrome can be a challenge. Our guide bridges that gap by providing:

1. Clear details on mutations in the SMARCA2 gene and how they affect development.

2. Information on identifying traits, from distinctive facial features and prominent finger joints to the "happy" and social dispositions often seen in our community.

3. Practical guidance on navigating developmental delays and intellectual impairments.

4. Direct links to our private family groups where the real "experts"—our parents and caregivers—share their lived experiences.

Whether you are a newly diagnosed family, a therapist, or a medical professional, this guide is built to ensure no one has to navigate NCBRS in the dark.

View or download the guide here: https://t.co/I9LN4Qh2ej
@ncbrsfoundation
Learn more about us! https://t.co/3O4GWmzvrw #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙

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3 months ago

NCBRS Worldwide Foundation - Nicolaides Baraitser @ncbrsfoundation

3 months ago

While we join the global community today for #RareDiseaseDay, the @NCBRSFoundation is already counting down to our most important date: October 9th. October 9th is our official #GlobalNCBRSAwarenessDay. It is the day we stand together to amplify the voices of those living with Nicolaides-Baraitser Syndrome. We wear Orange to spark conversations, break down barriers, and show our families they are seen. Our Mission is to turn heads and open doors for education. Support our families with the advocacy they need and ensure #NCBRS is represented in the wider rare disease conversation. Learn more about #GlobalNCBRSAwarenessDay here: https://t.co/kPRcsHZ34M Stay tuned as we share more about us! https://t.co/3O4GWmzvrw #NCBRS #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙

RareRevolutionM's tweet photo. While we join the global community today for #RareDiseaseDay, the @NCBRSFoundation is already counting down to our most important date: October 9th.

October 9th is our official #GlobalNCBRSAwarenessDay. It is the day we stand together to amplify the voices of those living with Nicolaides-Baraitser Syndrome. We wear Orange to spark conversations, break down barriers, and show our families they are seen.

Our Mission is to turn heads and open doors for education. Support our families with the advocacy they need and ensure #NCBRS is represented in the wider rare disease conversation.

Learn more about #GlobalNCBRSAwarenessDay here: https://t.co/kPRcsHZ34M

Stay tuned as we share more about us! https://t.co/3O4GWmzvrw #NCBRS #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙

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3 months ago

NCBRS Worldwide Foundation - Nicolaides Baraitser @ncbrsfoundation

3 months ago

Nicolaides Baraitser Syndrome (#NCBRS) is more than just a long name; it is a complex genetic condition caused by changes in the #SMARCA2 gene. But what does that look like in real life? 1. The Genetic Blueprint: NCBRS is caused by de novo mutations (occurring spontaneously) in the SMARCA2 gene. This gene is a key player in neural development and gene expression, which is why it impacts many different systems in the body. 2. Distinctive Features: Many of our individuals share beautiful, "coarse" facial features—often described as having a wide mouth and a broad nasal bridge. Another hallmark trait is prominent finger and toe joints (distal phalanges), which often become more noticeable as our "rare stars" grow. 3. The Power of Communication: While many with NCBRS experience significant speech delays or remain non-verbal, their silence is never empty. Our community excels at communicating through expression, touch, and Assistive and Augmentative Communication (AAC) technology. 4. The "Happy" Disposition: One of the most heart-warming facts about NCBRS is the personality. Families frequently describe their loved ones as having incredibly sunny, social, and infectious personalities. They are often the bright light in every room. 5. Ultra-Rare Strength: With only approximately 330 confirmed cases worldwide, every single person is a vital piece of the research puzzle. Every milestone reached is a victory for our entire global community. Stay tuned as we share more about us! https://t.co/3O4GWmzvrw #NCBRSRare #RareDiseaseDay #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙 @ncbrsfoundation

RareRevolutionM's tweet photo. Nicolaides Baraitser Syndrome (#NCBRS) is more than just a long name; it is a complex genetic condition caused by changes in the #SMARCA2 gene.

But what does that look like in real life?
1. The Genetic Blueprint: NCBRS is caused by de novo mutations (occurring spontaneously) in the SMARCA2 gene. This gene is a key player in neural development and gene expression, which is why it impacts many different systems in the body.

2. Distinctive Features: Many of our individuals share beautiful, "coarse" facial features—often described as having a wide mouth and a broad nasal bridge. Another hallmark trait is prominent finger and toe joints (distal phalanges), which often become more noticeable as our "rare stars" grow.

3. The Power of Communication: While many with NCBRS experience significant speech delays or remain non-verbal, their silence is never empty. Our community excels at communicating through expression, touch, and Assistive and Augmentative Communication (AAC) technology.

4. The "Happy" Disposition: One of the most heart-warming facts about NCBRS is the personality. Families frequently describe their loved ones as having incredibly sunny, social, and infectious personalities. They are often the bright light in every room.

5. Ultra-Rare Strength: With only approximately 330 confirmed cases worldwide, every single person is a vital piece of the research puzzle. Every milestone reached is a victory for our entire global community.

Stay tuned as we share more about us! https://t.co/3O4GWmzvrw #NCBRSRare #RareDiseaseDay #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙 @ncbrsfoundation

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3 months ago