#fragileX

[ewfailure]

Working on my first #comic Fragile X! Available for free on Patreon first, then everywhere else! Here are the first 2 pages, cover art coming after the first chapter is completed.

[like-egor]

👣 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=

[therapy-bites]

Hey TBAL Team! Checkout E40 - “Crazy Socks: Psychology of Inspiration Beyond Limitation” with a PAIR of SOCKSpirational guys Mark X. & John Cronin, founders & owners of John’s Crazy Socks! It’s on your favorite Pod Player (Stitcher, Pandora, CastBox, Podchaser, Spotify, iHeartRadio, Google Podcast, Apple Podcasts, and more)! Thank you, Mark & John, for joining us in the A.R.T. LAB! We had a crazy (socks) good time!

Super-Secret Gift Card Code (FCFS): dj3c trtx gmbx 8pmt

#evalongoria #bobdylan #johnstamos #presidentClinton #presidentbiden #justintrudeau #humanpotential #presidentbush #barbarabush #ADA #americanswithdisabilitiesact #neuroatypical #familybusiness #johnscrazysocks #selfefficacy #diversity #downsyndrome #fragilex #disablity #differentlyabled #TherapyBites #DocHeath #mindsetmatters #successmindset #mentalhealthmatters

[coffeewineautumn]

Last Year At School For Sir - What Happens Next? #FragileX

Last Year At School For Sir – What Happens Next? #FragileX

Sir has now started his last year at school funnily enough as Madam has gone into 6th Form. Now we have to start looking at where he can go next September. I found out rather by accident that there was an open day today across the local colleges, one of which is on the same site as the school. This brings many bonuses. Sir is already familiar with the place and they offer the same sort of course…

[inventive9]

12 Agile Principles | Rules Of Agile Model https://youtu.be/6VhcRuKwHAg #inventive9 #agile #agiledevelopment #agilemethodology #bitcoinagile #antifragile #agileworking #agilecoach #agileleadership #agilecoaching #agileguitars #agiletransformation #agilemindset #fragilex #agilenthawking #agiletraining #productivity #programming #userexperience #development #softwaredeveloper #software #artificialintelligence #consulting #emotion #melancholy #softskills #keynote #customersuccess #productmanagement https://www.instagram.com/p/CRGg13YLW86/?utm_medium=tumblr

[fertilityed-blog]

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

[mlbingham]

Working on a very special ornament for a family member! This ornament will be featured on one of the trees in Brookfield Zoo in Chicago, IL. Still need to put a clear coat on so it can withstand the Chicago winter then I will send it off!

[teixeiradistribution]

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

[mamimaycrochet]

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

[mogai-sunflowers]

🌻descriptive lexic gendies- part 4!🌻

delicalexic-  a gender that is/is related to the word ‘delicate’!

[Image ID: A flag with nine equally-sized horizontal stripes. From top to bottom, the colors are dull indigo, dull blue-purple, dull blue, dull turquoise, dull light grey, dull yellow, dull golden yellow, dull brown-orange, and dull rose pink. End ID.]

🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻

fragilexic-  a gender that is/is related to the word ‘fragile’!

[Image ID: A flag with seven vertical stripes, all of equal size except for the triply-thick central stripe. From left to right, the colors are mid blue-grey, dull purple, dull orange, dull lime yellow, dull orange, dull purple, and mid blue-grey. End ID.]

🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻

elegalexic-  a gender that is/is related to the word ‘elegant’!

[Image ID: A flag with seven vertical stripes, all of equal size except for the triply-thick central stripe. From left to right, the colors are mid purple, pink, red-orange, tan orange, red-orange, pink, and mid purple. End ID.]

🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻🌻

all terms and flags by me :3

DNI: racist (anti-black, anti-indigenous, anti-asian, nazi, etc.), anti-semitic, islamophobic, trump supporter/conservative/right-wing/pro-life, against the land back movement or BLM and ACAB, ableist/sanist (especially if you demonize disorders like npd, aspd, schizophrenia, ocd, etc.), against self diagnosis, against endogenic/nontraumagenic systems, queerphobic, against the term ‘queer’, an exclusionist of any kind (anti: mspec, aspec, lesboy, turiagirl, mspec lesbian/gay, xenogenders, neopronouns), TERFS/SWERFS/radfems/gendercrits, support autism speaks, dsmp and harry potter fan, believe fiction doesn’t affect reality/ship or support shipping ab*se, inc*st, and ped*philia, and if you send harassment, threats, or sui baits (i don’t care what side you’re on, if you send threats or sui baits, you suck).

if you identify with ‘proship’ but are strictly against shipping ab*se, inc*st, and ped*philia, and you believe fiction does affect reality, you can interact.

[sidebysidetherapy4autism]

Awesome Fragile X research coming out of Canada! It's still in animal models but is very promising!  https://www.eurekalert.org/pub_releases/2020-06/uoc-sbt060220.php

Scientific breakthrough toward treatment of Fragile X syndrome

Scientists at the University of Calgary have made a discovery that could lead to treatment of Fragile X syndrome (FXS), the leading genetic cause of autism. The study, involving mouse models, shows promise of translating to a treatment for people. Those with FXS are missing a protein vital to brain...

[swiftiewithfragilex-blog]

My workout routine

Hello everyone!

I’ve decided that it will be fun to share with you my workout routine.

I do this 3 days a week and I never miss day EVER. I make it happen. Just like my business and podcast. I make it all happen.

ANYWAYS I start out with 10-15 minutes of cardio (Bike or elliptical) Either way its 10 or 15 minutes. Then I get to the fun part! Strength training!

5 sets of 15 leg presses set at 95…

[coffeewineautumn]

Turning 16 with Fragile X

Turning 16 with Fragile X

“Happy birthday sweet sixteen” sang Neil Sedaka – showing my age there aren’t I!

Sir turned sixteen on Friday, my little boy is now a proper young person but who knew the changes and admin that would cause.

I wrote a post a while ago about apply for school transport  so he can continue getting the bus/taxi in September. No one has mentioned money yet..I guess that’s to come, but otherwise that’s…

[inventive9]

What is Agile? https://youtu.be/ZhNzWjAZJJ4 #agile #agiledevelopment #agilemethodology #bitcoinagile #antifragile #agileworking #agilecoach #agileleadership #agilecoaching #agileguitars #agiletransformation #agilemindset #fragilex #agilenthawking #agiletraining #productivity #programming #userexperience #development #softwaredeveloper #software #artificialintelligence #consulting #emotion #melancholy #softskills #keynote #customersuccess #productmanagement #inventive9 https://www.instagram.com/p/CREMrGDrEHP/?utm_medium=tumblr

[reasoningwithmybody-blog]

Fragility

Last night, my husband looked at me and said, “Thank you for making us have a kid.”  He’s said things to this effect before, expressing how happy he is that I pushed the issue.  At the time we were struggling with my infertility– had it been up to him – he would have left it at the doctor telling me I couldn’t have children, and that would be that.

My OBGYN recommended a fertility specialist.  I went on my own.  I barreled through it without much thought for the fact that my husband only half-heartedly on board.  He was content with our lives.  I wasn’t.  Is that horrible to say?  I loved him. I do love him. But I felt something missing, not necessarily from my relationship with him, but from my life. I wanted someone to take care of.

The initial appointment wasn’t a physical exam; it was a consultation, and the doctor (I’ll call him Dr. B) laid out our options.  We would start small, the “turkey baster” method, then move to more expensive and invasive treatments like IVF.  I did genetic testing because why not?  It wasn’t expensive (it wouldn’t cost more than $100 even if our insurance didn’t cover it).  And I was not expecting anything wrong with my genes.  I was healthy.  My parents were healthy. 

I was still so optimistic.  To this day, I trust medical professionals.  So when Dr. B sounded so confident, I believed him.

It was July.  I remember it was too hot to run outside so I had just started a run on the treadmill when I saw his number on my phone. 

He told me that I was a carrier for a permutation of Fragile X syndrome.  I had never heard of it before, but Fragile X is the leading known cause of autism. It causes intellectual disabilities and behavioral problems. It’s called Fragile X because the X chromosome expands.

I do not have full blown fragile X as my X chromosome hasn’t expanded to what is called the full mutation, but I still have a chance of passing this along to my children.  A woman with the full expansion has a 50/50 chance of passing it along.  If passed along to a girl, it rarely presents itself because females have two X chromosomes.  Males have one, so that is where we see the genetic mutation presents.

There are moments where you can divide your life into before and after.  All of us have them.  They tend to be tied up in grief.  This was one of those moments for me.  Being told you have a genetic disease that you could pass on to your offspring is a world upending moment.  What’s more, not having the full mutation of Fragile X actually made my chances of having a child at all more difficult.  Women with the permutation undergo something called FXPOI which is Premature Ovarian Insufficiency, which means it’s very hard to conceive and carry to term.

Looking bad, it’s difficult to remember the spiral this sent me down.  For a while, my husband was the only person I confided in about this, only I stopped talking to him. At all. I shut down.  I felt so ashamed, as if I had done something wrong.  I felt like less of a woman.  Suddenly, all my feminism left me and I just knew the biological reason for femaleness was baby-making.  I couldn’t do that.  I failed my husband.  I failed my parents.  I failed my in-laws. I hated myself for waiting so long to get married, to get pregnant.  I hated that I put career and something as silly as being happy and compatible with the actual father of said baby if it meant I could have one. In the weeks to come, as I sat beside my husband but didn’t let him inside my despair, I grieved the loss of life I never knew.

When I got off the phone with Dr. B, I sat on the floor next the treadmill and cried for nearly an hour.  Even now, I can picture that moment.  I can feel the shame well up inside of me.  I can feel the terror.

Still, for a little while, I had hope that we would still conceive.

Dr. B said that we could talk about my options.  He said we could continue forward with treatment and hope for the best.  Especially now that I have a child, I can say 100% without a doubt, I would go through with the treatment even knowing the risk of having a child with intellectual or behavioral disabilities. It has no bearing on a parent’s love for them.  At the time, though, without having kids, I’m not sure I would have made that choice.

He connected me to a genetic counselor, who said I had a 20% chance of having a child with fragile X.  These were good odds, as far as I was concerned, so I kept my appointment with him to look at my follicles and move forward.

Dr. B wasn’t able to make it to the appointment, so his partner did.  His partner – Dr. A -  said the likelihood of me conceiving and carrying was so slim it was a waste of time to even try.

I sat in the leather chair of his office, my husband by his side, and stared hopelessly at him. He was so matter of fact.  So harsh.  Dr. B said we were still going to try!  He had given me hope!  And then Dr. A just squashed it all with one glance at my chart.

But holy shit.  I am so fucking grateful for that man.   He changed my life.  He made it possible to have my son.

[perritadetussuenos]

Genetics Testing: Fragile X

5 years ago, my brother was tested positive for Fragile-X, which is a genetic disease that causes a spectrum of issues. It's the most prevalent cause for intellectual disabilities. We were told there was a 50% chance we could have it. 50%... that's huge! It's been something that's been hanging over my shoulders for years. Not knowing gave me anxiety. Knowing my genetic status would have calmed my worries, or at least helped me make a decision on wether or not I wanted to have children in the future. It would have gave me a sense of control. My mom, however, didn't want to face reality, and until this day refuses to speak on it. She never had any of the other children tested, and to be quite honest, I think it was wrong of her. We deserved nothing but the truth. Instead she's shrugged it under the rug, and has been very ashamed of my brother. I've never been ashamed of him. He's so bright! Sure he's not very good with math, but so what? He's so creative, and he loves learning science facts. He's so good at playing video games, he'd beat anyone. But on top of it all, he has the biggest heart- he shows the most love! However, my worries stemmed because I felt it would be selfish of me to procreate knowing this information without being tested. Why? Well, there's tremors associated with fragile-x, early menopause in women, etc... Why should I procreate knowing I may potentially pass this on? So I talked to my doctor. He set up an order for my testing. Before I was tested however, I found out I was pregnant. While this should have been thrilling news, deep down I was scared. I was scared I didn't take enough precautions, that I no longer was in control, and that I could possibly pass this on. I felt selfish, sad, and alone. I talked to my OBGYN, about the issue. He asked me, why did I want to know, now that I was pregnant? He asked what I was going to do. It made me feel bad, like he thought I would love my baby less... when in actuality I was very scared and he didn't make the situation any easier. I wanted to know, to know. To know once in for all, and to be mentally prepped if in fact my child was affected. About 2 weeks ago, I was tested. Those were the longest 2 weeks, it seemed... I was so anxious to know my results. Naturally I'm a worry wart, who has negative thoughts, and I always prep myself for the worst. I spent 14 days, waiting, and beating myself up because I felt irresponsible and selfish. Well, just two days ago they called me into the office to give me my results. My heart raced as I walked in. But I knew wanted to know; I was done wondering. Finally they sat me down. I tested negative! My worries, fears, guilt, and sadness were gone! I am now so excited to bring this human being into the world. Regardless of my status I was going to love this baby, but the relief I feel is unimaginable. I feel so much more confident in my pregnancy. The guilt I felt, is now off my shoulders and it's the best feeling ever. I wanted to share my story, to remind people it's okay to be scared. But, knowledge is power; having that information prior to pregnancy can help you make informed decisions. Knowing your genetic makeup after a pregnancy can help you prep for and to better understand your new infant. I highly recommend genetic testing, even if your scared of the results. Knowing is better than not knowing. ❤