I love somebody with Smith-Magenis Syndrome.

11/11/2025

Remembering all those we’ve lost within the SMS community 💜

This photo shows the international SMS awareness ribbon, the usual colours are purple and turquoise. this photo was edited as a mark of respect for all the people within our SMS community that have sadly passed away.

When a member of our wonderful community passes away it hits so hard.

Today we are remembering all the angels loved and forever missed.

11/11/2025

10/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know?

🦴 Scoliosis (a curved spine) is more common in individuals with Smith-Magenis Syndrome (SMS) than in the general population.

The likelihood of developing scoliosis often increases with age, so regular monitoring of spine health is important throughout childhood and adolescence.

By raising awareness, we help families and professionals better understand the lifelong needs associated with SMS 💜

09/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know? 💡

Many individuals with Smith-Magenis Syndrome (SMS) share some distinctive facial features — often described as a broad, square face, deep-set eyes, a prominent jaw, and an upturned nose.

These features can become more noticeable with age and may help doctors recognise the condition, but every person with SMS is unique — and their beauty shines in their own way 💜

Let’s keep raising awareness, building understanding, and celebrating individuality.

08/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know? 💡

Children with SMS often experience developmental delays, including delayed crawling, walking and speech. 💜

Fine motor delays can affect hand–eye coordination, grasping, or using utensils.

Self-care skills (like dressing, feeding, and toileting) may take longer to develop so daily living routines often need extra support and consistency.

Every milestone may take a little longer, but each one is a huge celebration for families living with SMS. These children and adults show incredible determination and strength every single day. 🌟

Let’s continue raising awareness, sharing understanding, and celebrating progress—no matter how long it takes. 💪💜

07/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know? 💡

🧬 Babies with Smith-Magenis Syndrome (SMS) often have low muscle tone (hypotonia), feeding difficulties, and may sleep well in the early days — though nighttime sleep can be very disrupted later on.

As there are two main genetic causes of SMS babies can present differently:

🔹 17p11.2 deletion:
Babies with this deletion are missing a small piece of chromosome 17, which includes the RAI1 gene and other nearby genes.
➡️ Because multiple genes are affected, these children may experience a broader range of medical or developmental challenges.

🔹 RAI1 mutation:
➡️ These babies may have fewer medical complications in the early days but may develop more specific behavioural, sleep and sensory profiles.

No matter the cause, every baby with SMS is different and every baby will develop in a different way.

Let’s keep raising awareness and supporting families seeking answers and understanding. 💜

06/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know?

🧬 Diagnosis for SMS is confirmed through genetic testing, usually with Chromosomal Microarray (CMA) for the deletion or via the Whole Genome Sequencing (WGS/WGS) for the RAI1 mutation.

These tests have transformed rare disease diagnosis — but they’re not perfect yet.

Even today, some genetic changes can be hard to detect, and sometimes results come back as “uncertain”, meaning science hasn’t yet learned how to interpret them.

That’s why families may go through:
🔍 multiple tests
⏳ long waits for answers
🔁 re-analysis as knowledge grows

Genetics is advancing fast, and every new discovery helps more families get the clarity they deserve. 💜

For SMS, it’s important that testing looks for both:
• ✅ the 17p11.2 deletion (most cases)
• ✅ changes in the RAI1 gene (a smaller number of cases)

If you’re on a diagnostic journey — you are not alone. Awareness, research, and advocacy continue to push understanding forward every day.

Let’s keep raising awareness and supporting families seeking answers.

💜

05/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

Did you know?

Most SMS cases happen spontaneously (de novo), but rare parental diagnoses do occur. Peer reviewed studies show parents have been found to either

🟣 carry pathogenic RAI1 changes without being effected themselves, or
🟣 have SMS but that has been discovered after their child was diagnosed.

Because of low-level parental mosaicism and rare inherited RAI1 variants, clinicians recommend parental testing after a child’s diagnosis to clarify recurrence risk and provide appropriate support. 💜
Let’s keep raising awareness, understanding and support 💜

💜

04/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

💜 Daily Fact 💜

Did you know?
✨ Most cases of Smith-Magenis Syndrome (SMS) are not inherited.
Instead, they occur spontaneously (de novo) — meaning the genetic change happens for the first time in the child and is not passed down from parents.

Inherited or not, this is a reminder that SMS isn’t caused by anything a parent did or didn’t do. It’s simply part of life’s unique genetic story — and every child with SMS brings their own incredible strengths, personality and joy into the world 💫

What truly matters is the love, strength, and support that surrounds each child with SMS. And with that, all people with SMS continue to shine — bringing laughter, wonder, and an incredible spark everywhere they go 💫

Let’s keep raising awareness, understanding and support 💜

💜

03/11/2025

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

All month long we’ll be sharing daily facts to help raise awareness, understanding and support for those living with Smith-Magenis Syndrome (SMS) 💜

✨ Today’s Fact:
Although SMS is estimated to occur in 1 in 15,000–25,000 births, many individuals are still not diagnosed — especially in childhood. Here’s why:

✨ Symptoms can look similar to autism, ADHD or other developmental conditions
✨ Features vary widely from person to person
✨ Many clinicians are still unfamiliar with SMS
✨ Older genetics tests could miss it
✨ Some people receive other diagnoses first
✨ Limited access to genetic testing in some areas

A diagnosis matters — it helps families access the right support, understand sleep and behaviour needs, and connect with a community who gets it. 💛

💜

02/11/2025

🟣November is Smith-Magenis Syndrome Awareness Month 🟣

All month long we’ll be sharing daily facts to help raise awareness, understanding and support for those living with Smith-Magenis Syndrome (SMS) 💜

✨ Today’s Fact:
The RAI1 gene is thought to be responsible for most features of SMS. This gene acts like a master regulator in the body — it helps control the activity of many other genes involved in:

🟣Brain development
🟣Sleep-wake cycles
🟣Behaviour and emotional regulation
🟣Learning and memory
🟣Development of facial features and body structure

Join us this month to learn, share and show your support. Raising awareness makes a real difference 💫

💜

01/11/2025

Fact 1 💜 Smith-Magenis Syndrome Foundation UK

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

✨ Today’s Fact:
Smith-Magenis Syndrome is caused by a deletion or small change in the RAI1 gene on chromosome 17p11.2. This genetic change affects development, behaviour, sleep and learning — but it does not define the incredible individuals who live with SMS 💪💜

🟣 November is Smith-Magenis Syndrome Awareness Month 🟣

All month long we’ll be sharing daily facts to help raise awareness, understanding and support for those living with Smith-Magenis Syndrome (SMS) 💜

✨ Today’s Fact:
Smith-Magenis Syndrome is caused by a deletion or small change in the RAI1 gene on chromosome 17p11.2. This genetic change affects development, behaviour, sleep and learning — but it does not define the incredible individuals who live with SMS 💪💜

Join us this month to learn, share and show your support. Raising awareness makes a real difference 💫

💜