#fragileXsyndrome
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👣 Вот и подходит к завершению очередной Йом Ришон (первый день недели в Израиле) Но неделя только начинается. Ловлю себя на мысли, что нужно остановится и осмотреться. Много суеты и лишних действий. У меня такое бывает временами. Чуть только заканчивается адовый темп работы, как я могу забить на списки дел, на самоконтроль и плыть по течению. Обманчивый штиль. Пофилософствовали и хватит. Пару дней назад пришло уведомление о готовности анализа на генетическую поломку #FragileX #fragilexsyndrome Результат анализа на сайте не отображается, так как это генетический анализ, видимо. Мы обеспокоены, так как 5 декабря вот-вот в госпиталь Рамбам к неврологу. И результат, если он положителен, крайне важен. Может повлиять на терапию против эпилепсии. Иду в больничную кассу и спрашиваю: "Что делать?" Запись к генетику не скоро, а результат уже нужен. В больничной кассе Маккаби Моцкин мне уже часто помогали в решении разных ситуаций. В этот раз сказали, что, Во-первых, этот результат может распечатать и детский врач. Так как имеет к нему доступ. Но, Во-вторых, отправили сразу меня к другому врачу, который провёл серию манипуляций на компьютере и сказал, идите домой и ждите. Я подумал, что результат не готов. А на самом деле спустя полчаса пришла СМС и доступ к результатам через личный кабинет. Магия какая-то ✨🎩✨ Алгоритм не понял, но главное - результат. Анализ отрицательный. С вероятностью 95% нет генетической поломки, вызывающий синдром FragileX. Это радует. Ждём результатов других обследований. Хорошей Вам недели Шавуа тов שבוע טוב P. S. После Ульпана ходили на раздачу обуви от мэрии Кирьят-Моцкина. Спасибо Алëне!Это был подарок от Фонда, поддерживающего новых репатриантов в стране. Пять пар зимних кроссовок. (По Израильским меркам зимних 😁) Временами чувствую себя муравьём, постоянно тащущим на горбышине какую-нибудь веточку. И это - хорошее ощущение 😋 P. S. S. Егорка всë ещё простывший, но чувствует себя лучше. В садике был. Примеряли ортезы. Ждём теперь, когда изготовят. Пойду делать домашку по ивриту 😅 доброй ночи ✨ #LikeEgorBlog #ЛАЙКЕГОРБЛОГ https://www.instagram.com/p/ClepZwHrm1-/?igshid=NGJjMDIxMWI=
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Let's make some noise for Fragile X, the gene that passes down silently through generations. Fragile X gene passes down the generation silently before it is mutated to cause Fragile X Syndrome. Women with Fragile X carrier are also impacted with fertility issues, the worst ones are the failure of IVF treatments. Listen to our latest episode and know all about it. Even many health care professionals do not know about the impact of Fragile X on fertility. . . . #IAmWithFragileX #FragileXIndia #FragileXAwarenessDay #julyisfragilexawarenessmonth #Fragilexawarenessmonth #fragilexsyndrome #fxs #differentnotless #letsmakesomenoise #genepassessilently #fragilexawarenessday2020 #Xtraordinary #fragilex #fagilexsyndrome #premutation #ovarianinsufficiency #xchromosome #genetics #geneticdisorder #infertility #infertilityawareness #podcast #itunes #fragilexawareness #fertilityeducation #origenfertility #infertilitysucks #fragilexfacts #fragilexindia (at Cranston, Rhode Island) https://www.instagram.com/p/CDnnj1zBcm4/?igshid=ni981wuc4jy0
#iamwithfragilex#fragilexindia#fragilexawarenessday#julyisfragilexawarenessmonth#fragilexawarenessmonth#fragilexsyndrome#fxs#differentnotless#letsmakesomenoise#genepassessilently#fragilexawarenessday2020#xtraordinary#fragilex#fagilexsyndrome#premutation#ovarianinsufficiency#xchromosome#genetics#geneticdisorder#infertility#infertilityawareness#podcast#itunes#fragilexawareness#fertilityeducation#origenfertility#infertilitysucks#fragilexfacts
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Join in tomorrow @fragilexindia, thoda #namakshamak karengey aur #fragilexsyndrome ke bare me Shalini jee batayengi https://www.instagram.com/p/CRGLllxDQus/?utm_medium=tumblr
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Reposted from @special_needs_children Follow @special_needs_children for Special Needs inspiration, memes, and support! . . . #sensory #specialneedsparents #specialneedsdads #specialneedskids #nonverbal #specialneedsmoms #spd #specialneeds #specialneedschildren #adhd #ASD #aspergers #autism #sensoryprocessingdisorder #angelmansyndrome #downsyndrome #fragilexsyndrome #pica #williamssyndrome #GDD #support #autismawareness #disabled #specialneedsmums #specialneeds #autismlife #community #love #family https://www.instagram.com/p/CN9AGcbBsj95DIL1xMRQlr25pJgJJtUnA2CmDI0/?igshid=aejg70bgpyl6
#sensory#specialneedsparents#specialneedsdads#specialneedskids#nonverbal#specialneedsmoms#spd#specialneeds#specialneedschildren#adhd#asd#aspergers#autism#sensoryprocessingdisorder#angelmansyndrome#downsyndrome#fragilexsyndrome#pica#williamssyndrome#gdd#support#autismawareness#disabled#specialneedsmums#autismlife#community#love#family
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Surrey, BC! Here we come!! ✈️Nous sommes en route!!! #surrey #surreybc #surreylife #bc #ups #fragile #fragilexsyndrome #fragilex #mtl #surreybccanada (at Montreal, Quebec) https://www.instagram.com/p/CCCIMv3j1dU/?igshid=1gdfc69cn1u0q
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#USFDA Authorizes Marketing of the First Genetic Test to Aid in the Diagnosis of Fragile X Syndrome #fragilexsyndrome #medicircle https://bit.ly/32gM3nb https://www.instagram.com/p/B833RM5JmTj/?igshid=o2aqwgbknpzn
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I’m sharing this for a friend , her daughter Esmee has a very rare genetic mutation called #fragilexsyndrome , please take a look and give your support , thank you in advance for looking #rarediseaseday #rareillness #fragilex #mamimaycrochet #supportyourfriends 💕 https://www.instagram.com/p/Bu87wxdll7xQvDEjOdg6-JkFMyRAc0JDUhbhRo0/?utm_source=ig_tumblr_share&igshid=1jerluus4uckg
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Facts and Causes of Autism
Before we get into the details of causes of Autism, let us understand some facts that surround this disorder. Here are the some facts of children with autistic disorder.
Autism Facts
- According to the current estimate, every one child out of 59 births is said to have Autism.
- Close to 85% autistic adults are unemployed.
- It is most common among boys than among girls.
- ASD is common among all groups, races of society.
Causes
Yes, as a parent of an autistic child, we want to know the causes of Autism. This is the random question asked to every doctor on hearing that their child is Autistic. Most of them think autism is caused by genetic and doctors say there are several other genes (that cause autism) which they are yet to locate. They are also caused due to environmental trigger.
Environmental Factors
Studies have shown that autism is also possible due to environmental factors. For instance; toxins and pollution around us could be a reason for a child to be autistic. These are research made in small towns based on the toxins released from industries across the belt of such towns. This has caused pollution that has resulted in the rise of autism cases.
Vaccination & Mercury
There is a belief that autism was the result of a vaccination named Thimerosal. This is because autism was diagnosed at the time when vaccination was given. However, as the research went much deeper, it was told there were no proof to show any relation between the two, vaccination and Autism.
An amount of mercury is present in vaccination. However, studies show that high levels of Mercury could also cause autism in children. Hence, the belief that autism was caused due to Vaccination. The fact remains that usually a very small amount of mercury or thimerosal is present in vaccination and this does not cause autism.
Mercury is emitted through industrial waste or by consuming plenty of fish (as mercury content is high in fish). As a result of these studies, pregnant women and their babies are tested for mercury content in their body system. This can ensure proper monitoring of the babies.
Here is a list of other causes that has come to light due to deeper studies.
- Autism could be caused due to underlying health issues.
- Diseases such as congenital rubella, fragile X syndrome, metabolic imbalance also cause autism.
Earlier, mothers were pointed for a child to be autistic; they were blamed for not dedicating enough time, love, care, and affection towards the child. In some cases the parents were blamed for bad
parenting. Doctors thought an emotional trauma could also be one of the causes. However, as time paved way for more research these theories were proved wrong. There is no definite theory against why autism is caused. Doctors are yet to investigate on this factor to analyse the right cause that is relatable and also find a better cure for the Childs growth and support in the society.
Read the full article
#ASD#autism#AutismFacts#Causes#causesofautismspectrumdisorder#congenitalrubella#EnvironmentalFactors#fragileXsyndrome#Mercury#Vaccination#Bulkuse_Official
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I’m the mom of a 20-year-old son with fragile X syndrome and autism. He’s great and I love him a lot! And there are days I feel like running away from home. Can you relate?
Send me your stories about parenting a special kid and come to my site to read about mine. It’s good to know we’re together on this parenting path!
#autism #fragileXsyndrome #parentingspecialneeds #parenting
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#Diabetes #Metformin #Autism #fragileX #FragileXSyndrome #Autistism #DiabetesDrug https://t.co/DOgK45gbNE
http://twitter.com/euneedspoiler
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I am aware of Fragile X syndrome, are you aware of it, let’s come together and spread the awareness #iamwithfragilex #fragilexsyndrome #fragilexchallenge @fragilexindia https://www.instagram.com/p/CGmJ4VFjpCu/?igshid=sxsbgfe16tna
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MSL DAILY RESEARCH NEWS - Scientific breakthrough toward treatment of Fragile X syndrome #FragileXsyndrome #breakthrough “a breakthrough discovery that could lead to treatment of Fragile X syndrome (FXS), the leading genetic cause of Autism Spectrum Disorder. The study, involving mouse models, shows promise of translating to treatment for people diagnosed with FXS. Children and adults with FXS are missing a protein vital to brain development called FMRP. "If I had to make an analogy, it might be akin to insulin and diabetes. With FXS, individuals are missing this protein—let's try putting it back in," says Turner, study lead, and professor in the departments of Cell Biology & Anatomy, and Physiology & Pharmacology at the CSM. "In 30 minutes, the protein distributed throughout the brain, and accomplished what it's supposed to do at the single-cell level." Free webinar on “how to become an MSL” https://lnkd.in/gFYBJ2G Or click on our profile. Click below to read further, like and share it and follow us to learn more. Our MSL testimonials: Http://https://lnkd.in/eEfHu4c #MSL #FSTP #MSLcert #medicalscienceliaison #msls #health #PHD https://www.instagram.com/p/CBJ4YyGj0Zp/?igshid=1pjpniz48cd20
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Papa got his first art set 🤗 Haven't had an #ArtwithTTandPapa session in awhile but his dad made sure to capture his art moments for me - #PastelRae #SacramentoArtist #paintings #artwork #artislife #instaart #supportlocalartists #artforsale #blackartist #art #shopsmall #girlboss #artblogger #fragilex #fragilexsyndrome #lovehasnolables #lovehasnodisability #arttherapy
#instaart#art#paintings#sacramentoartist#fragilexsyndrome#arttherapy#girlboss#artislife#artblogger#blackartist#pastelrae#artforsale#fragilex#artwork#shopsmall#supportlocalartists#lovehasnodisability#lovehasnolables#artwithttandpapa
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