Change4Charlie MECP2 Duplication Syndrome

08/03/2026

This picture sums up the vibes at our house—⁣
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Charlie is sleepy, his twin is ready, and his sister isn’t even up yet because her school starts later.⁣
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Happy first day of school! 🍎✏️📚

07/28/2026

So grateful for the global foundations of MECP2 Duplication Global (MDG), our partners in research & clinical care, and our beautiful community—all coming together for more tomorrows. 💙🌎
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07/20/2026

Charlie loves time in his happy place. He has fought through seizures and motor planning challenges for every good moment. We know we are lucky to have this time with him. ⁣
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But do not look too closely at this photo because I am sweating like no tomorrow after we carried him to this pretty spot without getting sand all over our clothes!⁣
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07/15/2026

At the beach, Charlie has to be in the water or under a tent to help with temperature regulation. We bring a clip on fan and a cool drink nearly everywhere. ⁣
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Even with every trick in the book, we can only keep Charlie outside for a short time because seizures/dysautonomia and this heat do not get along. ⁣
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MECP2 duplication makes it more complicated, but it is worth all the planning and modification to see Charlie enjoying the sights and sounds of the ocean! 🌊💙⁣
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07/11/2026

We stand with Special Olympics and many other disability rights groups! ⁣
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The R word, which is sometimes used to refer to people like Charlie even today, is the R slur. ⁣

❌ Say no to MRXSL and Lubs-type mental R syndrome to refer to MECP2 Duplication Syndrome! While it may remain in a medical record if your child is older or be used to refer to disease history in academic papers, it should NOT be in use currently.⁣

Learn more at the link in the comments!
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MECP2 Duplication Syndrome is sometimes referred to by different historical or less specific names. ⁣
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In the past, doctors or older medical reports may have used terms like Xq28 duplication (which only includes MECP2 in some cases), Lubs X-linked syndrome, or genetic identifiers like MRXSL and OMIM #300260. ⁣
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These names were used in different ways for individuals who actually have MECP2 Duplication Syndrome, even though they are broader, less precise, or may involve wording that is outdated and demeaning by today’s standards. ⁣
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Today, the preferred and most accurate name is MECP2 Duplication Syndrome. It clearly identifies the genetic cause: an extra copy (duplication) of the MECP2 gene. ⁣
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💛 Why does this matter? Because families may see different terms in older medical reports, research papers, or online resources. Knowing that some of these legacy terms were used for the same diagnosis helps prevent confusion, ensures families find the right information, and helps you connect to the right community support. ⁣
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➡️ If your child has a duplication involving MECP2, we encourage you to register your child on REMEDS, regardless of the terminology used in their report: https://remeds.org ⁣
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MECP2重複症候群は、これまでさまざまな名称で呼ばれてきました。⁣
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過去には、医師や古い医学文献で、Xq28重複（※MECP2を含む場合もあります）、Lubs X連鎖症候群、あるいはMRXSLやOMIM #300260といった遺伝学的な識別名が使われることがありました。⁣
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これらの名称は、実際にはMECP2重複症候群の患者さんを指して使われていたことがあります。しかし、これらはより広い概念を含む名称であったり、現在の基準では正確性に欠ける表現や、時代遅れで配慮に欠ける表現が含まれている場合があります。⁣
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現在では、MECP2 Duplication Syndrome（MECP2重複症候群）が、最も正確で推奨される疾患名です。これは、MECP2遺伝子のコピーが1つ余分に存在する（重複している）という、この疾患の原因を明確に表しています。⁣
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💛 なぜこれが大切なのでしょうか？⁣
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ご家族が古い診療記録や研究論文、インターネット上の情報を調べると、さまざまな疾患名に出会うことがあります。⁣
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こうした過去の名称が、実は同じMECP2重複症候群を指していたことを知っていれば、混乱を防ぎ、正しい情報にたどり着き、適切な患者コミュニティや支援につながることができます。⁣
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➡️ お子さんがMECP2を含む重複をお持ちの場合は、診断書にどの名称が使われているかに関わらず、ぜひREMEDSへの登録をご検討ください。https://remeds.org

07/05/2026

What a fun day! We loved the food, friends and music—and it made Charlie’s day when the trumpet player made a little detour to give him a high five! Thanks Atomic Lush for an incredible show ❤️🤍💙🇺🇸

07/03/2026

No photos—just more lemonade, please! 🍋🏝️☀️

07/02/2026

We don’t get a smile out of Charlie very often, but of course we do for MECP2 Duplication Syndrome awareness month in July!

07/01/2026

If we are going to win the fight against MECP2 Duplication Syndrome, we all have to work together.

Daily life shows us the cost of MECP2 Duplication Syndrome over time—seizures increase, skills regress, the disease marches on despite our best efforts to stop it.

Join us all month to raise awareness and get involved 💙

Today marks the start of MECP2 Duplication Syndrome Awareness Month. This July, we aren't just raising awareness - we are building bridges. Our community spans oceans, languages, and borders. This month, listen closely. Something global is coming.

06/28/2026

We haven’t taken nearly enough pictures of Charlie having fun in the sun and the ocean and the pool. ⁣
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But Charlie has definitely mastered the art of taking a nap on the beach!⁣