#findyourrare

[findyourrare]

Here are the 5️⃣things you need to know about the rare disease angelman syndrome

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1️⃣Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling

2️⃣Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing

3️⃣children may have enough receptive language ability to understand simple forms of language communication

4️⃣Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits.

5️⃣Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene

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Help us bring the invisible-visible ➡️ Like, share, save and comment a rare disease you would like to see highlight ⬇️

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#raredisease #rarediseaseawareness #angelmansyndrome #angelmansyndromeawareness #angelman #chronicillness #learningdisabilities #speechpathology #gesturecommunication #chronicillness #caregiver #disabledandproud #raremoms #rare #findyourrare #diseaseoftheday

Source🌐: https://rarediseases.org/rare-diseases/angelman-syndrome/

[podcastdx]

Complex Diagnoses

On this week's show we are speaking once again with Kristine Hoestermann, the founder of "FindYourRare" and she will be explaining how difficult it has been to get a diagnosis for Ehlers Danlos Syndrome and where that diagnosis took her (Brittle Cornea Syndrome & the BRCA Gene for Breast Cancer are the latest two) 

Heeeeere's Kristine!

  Allow me to introduce myself🦓My name is Kristine (kk). I am the CEO of RARE.™ A brand that was born from my own frustrations following the onset of my symptoms in 2016. It never occurred to me I could wake up sick and never get better. That I would lose everything I knew without noticing.

  In the beginning of getting sick I experienced extreme isolation. I felt like I didn’t fit in anywhere. Among symptoms that have yet to have to be attributed to a known disease🧬I have been diagnosed with EDS , POTS, and Autoimmune Small Fiber Neuropathy Secondary to Unknown Connective Tissue Disease 🆗 That feels like a lot right? but I didn’t look sick and that made it really hard for not only me to accept but also the world around me 🌍

  I created RARE.™ as a safe space for myself until I realized so many other rare disease fighters, chronic illness, chronic pain, invisible disease or any human needed that same thing. So I got to work and here we are. Together we can start to bridge the gap 🚧

  🆗More about the RARE. Girl behind the brand; 

🥄I  am a fierce lover of Grey’s Anatomy. Meredith Grey is my person.

🥄You can be sure that I’ll be either listening to Taylor Swift or True Crime. 

🥄My favorite book is a Thesaurus

🥄I am a loyal Ticondaroga Pencil user

🥄I love to create & I am a huge nerd

 🥄My Wardrobe can easily be mistaken for your grandmas & I love it

  Change Starts Here. Connect With RARE.™

  📱Share With Us 🔛@findyour rare on all social platforms #findyourrare

🛍 Shop your purpose 🔛 www.findyourrare.com

🎙 Because We Are Strong Podcast 🔛 www.bwspod.com

🗳 VPR Membership Club 🔛 findyourrare.info/vrp 

✉️ Reach Out 🔛 [email protected]

Check out this episode!

#health care #medical #podcastDX #illness #surgery #recovery

[monicamichellefairytales]

Website/Blog, Twitter, & Instagram Handle www.findyourrare.com @findyourrare Name * Kristine Hoestermann What is your disorder? * Autoimmune mediate small fiber neuropathy secondary to undifferentiated connective tissue disease endometriosis by Monica Michelle

#IFTTT #YouTube #spoonie #chronic illness

[findyourrare]

Our FALL collection has dropped ➡️ findyourrare.com

#findyourrare #thisisrare #butyoudontlooksick #raredisease #zebralife #thegreaterthanproject #taylor swift #support #swifties #spoonie #smallbuisnessowner #smallbusiness #shops #shopsmall

[findyourrare]

It’s a take over.

#findyourrare #thisisrare #raredisease #butyoudontlooksick #spoonie #taylor swift #how to #handcrafted #diy #positivity #sick girl summer

[findyourrare]

Unapologetically choosing to be my rare self 🤟🦓

#findyourrare #raredisease #thisisrare #butyoudontlooksick #spoonie #zebralife #swifties #thegreaterthanproject #support #lover

[findyourrare]

“ i just want to say I’m sorry for anyone who wasnt believed... i don’t know what turn my life would have taken if people didn’t believe me when i said that something is happening to me” - @taylorswift Miss Americana after the one year anniversary of her sexual assault court case

imagine if every minute of everyday people didn’t believe you; family, friends, work and even your doctors become deaf to your words because of how little they take your account seriously

Think about the turn your life would take..

then go hug someone with an invisible disease and let them know you believe them. Because your moment of humanity may save them from the mental and physical turn their life has already taken

#swifties #thisis30 #zebralife #zebraherd #thegreaterthanproject #support #findyourrare #zerbralife #spoonie #thisisrare #butyoudontlooksick #edswarrior

[findyourrare]

Alittle fun in the sun... Sorta

#findyourrare #raredisease #thisisrare #butyoudontlooksick #spoonie #zebralife #swifties #thegreaterthanproject #support #lover

[findyourrare]

This week at RARE.

#findyourrare #raredisease #thisisrare #butyoudontlooksick #spoonie #zebralife #swifties #thegreaterthanproject #support #lover

[findyourrare]

RARE. 🚨Alert!

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Deborah G. Edwards author of HIGH will be doing a virtual reading this WEDNESDAY July 8th, 2020 at 8pm EST. (link in commments)

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Grab your copy off her amazing book and receive an 11$ gift card from RARE. (with proof of purchases sent to [email protected])

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Unsure? ALL ARE WELCOME.

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Deborah G Edwards is an incredible human who has given her heart and soul to this book. Dive into your narrative and connect with. #business

#findyourrare #raredisease #thisisrare #butyoudontlooksick #spoonie #zebralife #swifties #thegreaterthanproject #support #lover

[findyourrare]

Making change one dance step at a time @taylorswift your turn!

#findyourrare #raredisease #thisisrare #butyoudontlooksick #spoonie #zebralife #swifties #thegreaterthanproject #support #lover

[findyourrare]

Walking into summer 2020

SO EXCITED TO RELEASE OUR SUMMER COLLECTION 🦓

#findyourrare #thisisrare #raredisease #butyoudontlooksick #zebralife #thegreaterthanproject #spoonie #swifties #lover #support

[findyourrare]

“Life happens. All you can do is be brave enough to face the day”

-that RARE. girl

#thisisrare #findyourrare #raredisease #awareness #butyoudontlooksick #thegreaterthanproject #greaterthanproject

[findyourrare]

THIS IS WHAT invisible disease looks like

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I know, looks like your typical 31 year old...three years ago I would have though the same thing, but that’s just the point! “Sick” has no particular look or identity; it’s your sister, your father, your colleague, your neighbor, your friend, a complete stranger

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So join the movement; Raise awareness; and above all, be kind🖤🦓

#thisisrare #becomevisible #findyourrare #iamhere #spoonsforrare

#raredisease #butyoudontlooksick #chronicillness #spoonie #zebralife #eds #swifties #thegreaterthanproject #thisisrare #findyourrare

[findyourrare]

This used to be my life.

i spent 27 years with someone like most we had our struggles but i adored who she had become over those years. She had long thick hair the kind that looked good no matter how she did it, smooth skin and never was sick. She could get ready in 10 minutes flat and she hated to be late. She had a great memory and was a phenomenal athlete. She was giving and kind. She was loud and insecure but never tried to hurt anyone. She struggle with her weight even when she was 90 pounds. She was easy going and always down for a good time and never wanted to be a bother despite how she felt inside. She was a family girl and traveled back to see them for almost every event. She was patient and even when mad if you didn’t know her you wouldn’t have none. She was focused and determined to be the best therapist she could be and i support her ambition and drive. In August 2016 i noticed a change in her though subtle i knew this was the start of the end. I tried to ignore the signs and the pain but she stopped coming home one day and then began limiting the time she spent with, she never said goodbye or even let me know she was going to leave. It was easy to pretend that we had not separate , she left things behind that made it feel like she was there. I knew she wasn’t but it became easy to pretend when everyone around me still acted like we were together . The pretending at mask the pain when family and friends were around but it began to grow tiring and feel like i was invisible. It finally came to light that were separated and many were devastated and didn’t not believe it, how can this be you guys looked fine. No one gave me space to feel our break up blinded by their own grief. Countless times I would try to move only to be confronted with more pain and suffering. There were things we shared that i no longer can do, food that i no longer cared for and being alone started to feel easier then being in the crowd. i am more reserved now and extremely cautious. There is a burning feeling inside, anger, grief and sadness flood me daily. After 27 years you become comfortable, but i take no comfort being trapped in the life we built together now that you are gone.

#findyourrare #raredisease #thisisrare #butyoudontlooksick #chronicillness #spoonie #zebralife #eds #endowarrior #invisibleillness

[findyourrare]

When tragedy strikes someone you know in a way you’ve never dealt with before, it’s okay to say that you don’t know what to say. Sometimes just saying you’re so sorry is all someone wants to hear. It’s okay to not have any helpful advice to give them; you don’t have all the answers. However, it’s not okay to disappear from their life in their darkest hour. Your support is all someone needs when they’re at their lowest point. Even if you can’t really help the situation, it’s nice for them to know that you would if you could.

@taylorswift

This shook me to my core...some tragedies are slow and nearly invisible they happen over time and if you are not paying attention you may miss the darkness someone is feeling. CHECK ON YOUR PEOPLE, even if they don’t ask. Chronic Illness is a slow, long and consistent tragedy that brings on new challenges every.single.day. Over the last three year I have lost so many things and what hurts the most is those who were so close to me missed it or just didn’t show up.  

Let’s be better to one another, let’s show up even when we don’t want to, let’s be kind and listen. Let’s believe the ones we love when they open up because everyone is fighting a battle we know nothing about. Let’s be RARE. 

#thisisrare #findyourrare #raredisease #taylorswift #taylornation #swifties #lover #thisis30 #chronicillness #zerbralife #zebraherd #support #darkness