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🔎 Síndrome de Kleefstra: lo que debes saber Es una condición genética poco frecuente que requiere un diagnóstico oportuno y un abordaje integral. Te dejo mas información en el video. ¿Lo habías escuchado antes? #draluisafer #sindromedekleefstra #kleefstrasyndrome #sindromesgeneticos #geneticamedica #geneticcounseling #raredisease #estudiosgeneticos
🔎 Síndrome de Kleefstra: lo que debes saber Es una condición genética poco frecuente que requiere un diagnóstico oportuno y un abordaje integral. Te dejo mas información en el video. ¿Lo habías escuchado antes? #draluisafer #sindromedekleefstra #kleefstrasyndrome #sindromesgeneticos #geneticamedica #geneticcounseling #raredisease #estudiosgeneticos
Growing up, I used to get upset when people would stare at my sister. I would hurry to stand in front of her wheelchair and block their view. I have a different perspective on that now, for kids especially. Typically, an adult’s automatic response is to redirect the child and say, “it’s rude to stare!” Childhood is THE age for curiosity! Rightfully so - most everything you’re exposed to is something new & different. I’ll be the first one to say, my sister doesn’t look like me or you or most people! So yeah, I’d be curious, too. Growing up with my sister is all I’ve known. In my parents’ house, we regularly said things like, “Can you tube feed Anna?” or, “Can you put anna in her wheelchair please?” Watching my daughter grow up with Anna as her aunt is a joy. Anna is now all she knows as well. She doesn’t know that most people don’t have an aunt like Anna. So, here are some things you can do: 🧠 Acknowledge their curiosity - “I see you’re looking at the girl in the wheelchair! You might be wondering why she needs it.” If you don’t know the answer or are curious too, embrace it as a learning opportunity for the whole family. 📚 Include inclusive media in your home. Book ideas: “Just Ask,” “Mighty Mara,” “Bravery Grows,” “Come Over to My House,” “Too Much!” and “We’re Different, We’re the Same.” I’m also a huge fan of @sesamestreet & think they’re doing an excellent job of being inclusive. 🗣️ Check your language, remember that all people are just that, people! Watch use of words/phrases/questions like “abnormal,” “victim,” “girl in the wheelchair,” “what’s wrong with you?” etc. ♿️ Know that not all individuals who use a wheelchair or family members of those individuals are comfortable talking about their experience. And that’s okay - there are so many people who do share! Not all experiences and not all opinions will be the same, like all things. Thank you for being here 💜 #disabilityawareness #disabilityadvocate #wheelchairuser #mywhy #running4thosewhocant #runningforthosewhocant #accessibility #curioustoddler #toddlerbooks #inclusion #kleefstrasyndrome #kleefstra #raisingtoddlers #toddlermom
Growing up, I used to get upset when people would stare at my sister. I would hurry to stand in front of her wheelchair and block their view. I have a different perspective on that now, for kids especially. Typically, an adult’s automatic response is to redirect the child and say, “it’s rude to stare!” Childhood is THE age for curiosity! Rightfully so - most everything you’re exposed to is something new & different. I’ll be the first one to say, my sister doesn’t look like me or you or most people! So yeah, I’d be curious, too. Growing up with my sister is all I’ve known. In my parents’ house, we regularly said things like, “Can you tube feed Anna?” or, “Can you put anna in her wheelchair please?” Watching my daughter grow up with Anna as her aunt is a joy. Anna is now all she knows as well. She doesn’t know that most people don’t have an aunt like Anna. So, here are some things you can do: 🧠 Acknowledge their curiosity - “I see you’re looking at the girl in the wheelchair! You might be wondering why she needs it.” If you don’t know the answer or are curious too, embrace it as a learning opportunity for the whole family. 📚 Include inclusive media in your home. Book ideas: “Just Ask,” “Mighty Mara,” “Bravery Grows,” “Come Over to My House,” “Too Much!” and “We’re Different, We’re the Same.” I’m also a huge fan of @sesamestreet & think they’re doing an excellent job of being inclusive. 🗣️ Check your language, remember that all people are just that, people! Watch use of words/phrases/questions like “abnormal,” “victim,” “girl in the wheelchair,” “what’s wrong with you?” etc. ♿️ Know that not all individuals who use a wheelchair or family members of those individuals are comfortable talking about their experience. And that’s okay - there are so many people who do share! Not all experiences and not all opinions will be the same, like all things. Thank you for being here 💜 #disabilityawareness #disabilityadvocate #wheelchairuser #mywhy #running4thosewhocant #runningforthosewhocant #accessibility #curioustoddler #toddlerbooks #inclusion #kleefstrasyndrome #kleefstra #raisingtoddlers #toddlermom
Kleefstra syndrome regression took her voice, look how hard she’s working to get it back! 💜#kleefstrasyndrome #kleefstraawareness #kleefstrasyndromeawareness #regression #mentalhealth #mentalhealthawareness #specialneeds #specialneedsfamily #chromosomes #mamma #mammasgirl #nonverbal #autism #parentcarers #kleefstramum #pink #fuckinperfect
Kleefstra syndrome regression took her voice, look how hard she’s working to get it back! 💜#kleefstrasyndrome #kleefstraawareness #kleefstrasyndromeawareness #regression #mentalhealth #mentalhealthawareness #specialneeds #specialneedsfamily #chromosomes #mamma #mammasgirl #nonverbal #autism #parentcarers #kleefstramum #pink #fuckinperfect
This Journey is Not just my Own. We Are in this together Mamas! I will Always advocate for Her! 💜💜 #AutismMom #autismawareness #kleefstrasyndrome #specialneedsmom
This Journey is Not just my Own. We Are in this together Mamas! I will Always advocate for Her! 💜💜 #AutismMom #autismawareness #kleefstrasyndrome #specialneedsmom
“My disability doesn’t hold me back,” says Paul. “I thrive my challenges.” 💪 At 21, Paul learned that he has Kleefstra syndrome, and took part in a natural history study to better define this newly recognized disorder. #RareDiseaseDay #kleefstrasyndrome
“My disability doesn’t hold me back,” says Paul. “I thrive my challenges.” 💪 At 21, Paul learned that he has Kleefstra syndrome, and took part in a natural history study to better define this newly recognized disorder. #RareDiseaseDay #kleefstrasyndrome
Day three having Edith off school and we managed to leave the house for a walk today! Beautiful sunshine. Had to mute the sound as Edith was rather loud at times with her shouting 🤦‍♀️ #penrose #nationaltrust #kleefstrasyndrome #specialneedsparenting
Day three having Edith off school and we managed to leave the house for a walk today! Beautiful sunshine. Had to mute the sound as Edith was rather loud at times with her shouting 🤦‍♀️ #penrose #nationaltrust #kleefstrasyndrome #specialneedsparenting
La pazienza che ha Emma con Viola. Ho sempre sognato di avere due femmine immaginando quando avrebbero giocato tra loro, sarebbero state complici di segreti e molto altro. Poi è arrivata Viola so che non sarà mai un rapporto “normale”, spesso ci soffro perché arriverà il momento in cui Violetta non potrà uscire come escono tutte le amichette insieme una volta cresciuta. Ma so anche che sarà un legame speciale, unico e pieno di amore perché si prendono cura l’una dell’altra senza barriere e senza limiti💜🩷 #unamammainrosa #queendramabag #dramabag #bag
La pazienza che ha Emma con Viola. Ho sempre sognato di avere due femmine immaginando quando avrebbero giocato tra loro, sarebbero state complici di segreti e molto altro. Poi è arrivata Viola so che non sarà mai un rapporto “normale”, spesso ci soffro perché arriverà il momento in cui Violetta non potrà uscire come escono tutte le amichette insieme una volta cresciuta. Ma so anche che sarà un legame speciale, unico e pieno di amore perché si prendono cura l’una dell’altra senza barriere e senza limiti💜🩷 #unamammainrosa #queendramabag #dramabag #bag
클리프스트라 증후군(Kleefstra Syndrome) 1. 개요 클리프스트라 증후군은 염색체 9q34.3 결실 또는 EHMT1 유전자 돌연변이로 인해 발생하는 희귀 유전 질환입니다. 주로 신경 발달 장애, 근긴장 저하(저긴장증), 언어 및 지적 장애, 얼굴 기형 등의 특징을 보입니다. 2. 원인 EHMT1 유전자 결함: 신경 발달과 관련된 유전자 돌연변이가 주요 원인. 9번 염색체 일부 결실(9q34.3 deletion syndrome) 3. 주요 증상 신경 발달 장애: 발달 지연, 학습 장애, 언어 표현 능력 부족 근긴장 저하(저긴장증): 근육 힘이 약해 운동 발달 지연 얼굴 기형: 소두증(머리가 작은 증상), 돌출된 혀, 넓은 콧대, 눈썹 이상 행동 및 정신 건강 문제: 자폐 스펙트럼 장애(ASD) 유사 증상, 공격성, 사회적 상호작용 장애 기타 동반 질환: 선천성 심장 기형, 신장 이상(방광요관역류, 신장 결손), 간질 4. 진단 유전자 검사: EHMT1 돌연변이 확인 MRI, 뇌파 검사(EEG): 신경학적 이상 평가 심장, 신장 초음파: 동반 기형 확인 5. 치료 및 관리 재활 치료: 물리치료, 작업치료, 언어치료 의료적 관리: 심장 및 신장 질환 치료, 간질 조절 행동 치료: 자폐 및 주의력결핍과잉행동장애(ADHD) 증상 관리 이 증후군은 완치가 어렵지만, 조기 치료 및 다학제적 접근이 환자의 삶의 질 향상에 도움이 될 수 있습니다. #제주운동전문센터 #노형재활전문센터 #제주골반교정 #제주체형분석진단 #제주재활운동가이드 #애월재활운동센터 #하귀체형교정 #노형PT추천 #제주발달장애 #제주발달장애인지원센터 #제주발달장애 #제주발달장애인훈련센터 #제주발달재활 #제주발달장애인수업 #제주위드슬로우스타터 #위드슬로우스타터
클리프스트라 증후군(Kleefstra Syndrome) 1. 개요 클리프스트라 증후군은 염색체 9q34.3 결실 또는 EHMT1 유전자 돌연변이로 인해 발생하는 희귀 유전 질환입니다. 주로 신경 발달 장애, 근긴장 저하(저긴장증), 언어 및 지적 장애, 얼굴 기형 등의 특징을 보입니다. 2. 원인 EHMT1 유전자 결함: 신경 발달과 관련된 유전자 돌연변이가 주요 원인. 9번 염색체 일부 결실(9q34.3 deletion syndrome) 3. 주요 증상 신경 발달 장애: 발달 지연, 학습 장애, 언어 표현 능력 부족 근긴장 저하(저긴장증): 근육 힘이 약해 운동 발달 지연 얼굴 기형: 소두증(머리가 작은 증상), 돌출된 혀, 넓은 콧대, 눈썹 이상 행동 및 정신 건강 문제: 자폐 스펙트럼 장애(ASD) 유사 증상, 공격성, 사회적 상호작용 장애 기타 동반 질환: 선천성 심장 기형, 신장 이상(방광요관역류, 신장 결손), 간질 4. 진단 유전자 검사: EHMT1 돌연변이 확인 MRI, 뇌파 검사(EEG): 신경학적 이상 평가 심장, 신장 초음파: 동반 기형 확인 5. 치료 및 관리 재활 치료: 물리치료, 작업치료, 언어치료 의료적 관리: 심장 및 신장 질환 치료, 간질 조절 행동 치료: 자폐 및 주의력결핍과잉행동장애(ADHD) 증상 관리 이 증후군은 완치가 어렵지만, 조기 치료 및 다학제적 접근이 환자의 삶의 질 향상에 도움이 될 수 있습니다. #제주운동전문센터 #노형재활전문센터 #제주골반교정 #제주체형분석진단 #제주재활운동가이드 #애월재활운동센터 #하귀체형교정 #노형PT추천 #제주발달장애 #제주발달장애인지원센터 #제주발달장애 #제주발달장애인훈련센터 #제주발달재활 #제주발달장애인수업 #제주위드슬로우스타터 #위드슬로우스타터
Ever heard of Kleefstra Syndrome? It is a very rare disorder that involves many parts of the body, including the spine. Let me introduce you to a friend that is more like family. I met Molly 10 years ago when we both moved to the same street. She was in 6th grade and was always the first to introduce herself, always tells it like it is, and cares deeply for her friends. Over the years I watched, in awe, as her parents navigated the overwhelming task of learning disabilities and medical issues with no real diagnosis. Kleefstra syndrome was officially recognized in 2010 but Molly wasn’t diagnosed until 2016 when she was 16 years old. It was an amazing to watch her family be able to talk with people walking the same path! Molly has grown into a beautiful young woman who has a steady job and is living her best life! I am honored to create this painting representing the curvature of her spine in the colors of Kleefstra Syndrome. If you would like to find out more, I will put a link in my bio.
Ever heard of Kleefstra Syndrome? It is a very rare disorder that involves many parts of the body, including the spine. Let me introduce you to a friend that is more like family. I met Molly 10 years ago when we both moved to the same street. She was in 6th grade and was always the first to introduce herself, always tells it like it is, and cares deeply for her friends. Over the years I watched, in awe, as her parents navigated the overwhelming task of learning disabilities and medical issues with no real diagnosis. Kleefstra syndrome was officially recognized in 2010 but Molly wasn’t diagnosed until 2016 when she was 16 years old. It was an amazing to watch her family be able to talk with people walking the same path! Molly has grown into a beautiful young woman who has a steady job and is living her best life! I am honored to create this painting representing the curvature of her spine in the colors of Kleefstra Syndrome. If you would like to find out more, I will put a link in my bio.
📢 Rare Disease Day is Tomorrow! 💜 Join the Kleefstra Syndrome community in raising awareness! If you’ve got your hoodie, snap a pic & submit it TODAY to be featured! 📸💙 Haven’t grabbed one yet? Shop now through the store in our site & support awareness all year round. 🛍️💜 #KleefstraSyndrome #RareDiseaseDay #Community #ShowYourSupport
📢 Rare Disease Day is Tomorrow! 💜 Join the Kleefstra Syndrome community in raising awareness! If you’ve got your hoodie, snap a pic & submit it TODAY to be featured! 📸💙 Haven’t grabbed one yet? Shop now through the store in our site & support awareness all year round. 🛍️💜 #KleefstraSyndrome #RareDiseaseDay #Community #ShowYourSupport
On our farm, we have some holidays others wouldn’t consider. This is hay week, and to Henry it’s Christmas in June and the last day of school! Our little Hen will be a freshman next year. . . . . #farmlife #bailinghay #hayday #specialneedsfamily #kleefstrasyndrome #tualatinvalley
On our farm, we have some holidays others wouldn’t consider. This is hay week, and to Henry it’s Christmas in June and the last day of school! Our little Hen will be a freshman next year. . . . . #farmlife #bailinghay #hayday #specialneedsfamily #kleefstrasyndrome #tualatinvalley
Precisamos falar sobre acessibilidade para concretizar a inclusão de pessoas diversas nos mais diferentes espaços. Sem isso não existirá pertencimento. #comunicacaoalternativa #inclusão #neurodiversidade #tea #maternidadeatipica #deficienciaintelectual #sindromedekleefstra #kleefstrasyndrome #educação #educaçãoinclusiva #pessoacomdeficiência #paracegover: sou uma mulher de cabelo longo preto, vestindo uma blusa sem mangas, cor creme, com o fundo branco. Sentada em uma cadeira de frente para a tela.
Precisamos falar sobre acessibilidade para concretizar a inclusão de pessoas diversas nos mais diferentes espaços. Sem isso não existirá pertencimento. #comunicacaoalternativa #inclusão #neurodiversidade #tea #maternidadeatipica #deficienciaintelectual #sindromedekleefstra #kleefstrasyndrome #educação #educaçãoinclusiva #pessoacomdeficiência #paracegover: sou uma mulher de cabelo longo preto, vestindo uma blusa sem mangas, cor creme, com o fundo branco. Sentada em uma cadeira de frente para a tela.
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