genetic disorder

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Thoughts...

There I am... On my bed... In the fetal position again.
My fingers covering my face as tears run into my palms from the pain erupting in every muscle, tendon, and bone in my body.
The pain is nothing new... I'm used to it, but then there's this pain... That hits every area at once and reminds me of how bad it can really get.
Then I start thinking about the future... How much worse it will get with age... All the surgeries ahead of me...
And the hopelessness comes rushing in... The frustration... The feelings of zero self worth.
Where is my place in a society that places your value on what your physical health?
I'm lost tonight... Caught in a cycle of dread and grief. Dread for what lies ahead and grief for what I've lost of myself so far.
And I wish I had someone to wrap their arms around me as I release this anguish... But the stress of companionship seems to outweigh the joy.
Who wants someone who cancels more than they show up? Someone who's always exhausted and constantly in pain?
Just thinking of it exhausts me.
For now... It seems easier to lie here... With my pain and bear it on my own.
#EhlersDanlosSyndrome #HEDS #Hypophosphatasia #softbones #MyalgicEncephalomyelitis #OrthostaticHypotension #Osteoarthritis #RareDisease #GeneticDisorder #BipolarDisorder #ComplexPosttraumaticStressDisorder

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Kat Harrison

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@xokat

Living With Rare Disease 2y

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Describe your rare disease in one sentence.

Ah, living with a rare disease (or more!). An absolute blast, right? (Kidding.) As someone who lives with one myself, I know what it’s like to have to constantly explain the condition to acquaintances, colleagues, friends, family members, and even well-meaning medical professionals who ask, “What’s that?” It’s exhausting.

How do you describe yours? What’s your “elevator pitch”? Here’s mine:

SUNCT Syndrome is a debilitating headache condition that presents itself through up to 200 mini headache attacks behind one eye, and is accompanied by autonomic symptoms like tearing and swollen eyelids.

Your turn!

#Migraine #ChronicPain #RareDisease #ChronicIllness #GeneticDisorder #SUNCTHeadache #MentalHealth #Disability

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kwnorton000

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@kwnorton000

DADA2 4y

Visit website for recently discovered PAN Vasculitis.

This type of Vasculitis is thought to affect 1/3 of those affected by PAN Vasculitis. The genetic links to what is termed DADA2 were discovered in 2014. Very interesting story about the discovery and the hundreds of patients (most young children), families, physicians, and researchers internationally affected. There is much interest that other forms of Vasculitis may be genetic as well. New cases of DADA2 are discovered regularly.

This new field may be of interest to many current Vasculitis patients and medical professionals. Read the story of how a Nashville doctor discovered that two of his daughters are affected and his subsequent work in medicine and advocacy around the world. Read about the interesting patients, families and researchers involved and how they advocate for the benefit of all. This is inspirational for all of us suffering with rare diseases.

New research appears often - symptoms range widely as do the age groups and types of genetic abnormalities affected. There are both early onset and late onset disease.

The website for dada2.org is http://www.dada2.org. There is a group for patients and families on Facebook. #DADA2 , #RareDiseases , #Vasculitis , #GeneticDisorder , #GeneticCounselors , #GeneticDisorder , #GeneticTesting , #Rheumatology , #PolyarteritisNodosa , #PediatricStroke , #PediatricHypertension , #PediatricLiverDisease , #ADAdeficiency , # adenosine deaminase2 deficiency

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SuperWomen 4y

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Tisomy X- Genetic Disorder

Hi. My name is Elizabeth. I was born with a rare Genetic mutation which presents a disorder. It's called Trisomy X or Triple X Syndrome. As a summary, there are 2 Special Sex Chromosomes in our genes that determine our sex:. An X and a Y. Boys get a Y from thier Dad and an X from thier Mom. Girls get a X from thier Dad and a X from thier Mom. So Boy=XY & Girl=XX. However in 1 out of 1000 Girls, a baby can be born with 3 X Chromosomes! That's where I come in! I have 3 X's! I would like to bring awareness and understanding about this genetic anomaly. I would also like to find others like me, and support them! We Women are eXtra Special! Some Scientists label us as "Super Women" because we have more of the female Sex Chromosome than normal, so it's like we are "more" woman than our peers! I think that's a great label to have! I'm Special!#SuperWomen #TrisomyX #TriplyXSyndrome #eXtraSpecial #GeneDuplication #GeneticDisorder #XXX

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McDonalds 5y

McDonalds Was Mean to my Special Needs Students

I teach special education in a self contained setting. My job is truly my passion. I not only love what I do, but I LOVE my students. I spend 9-3:30 with them Monday through Friday and there are very few things I won’t do for them. Advocating and being their voice is one of those things I do for them.

My school is in a suburb of Chicago. We had planned a community trip to the pumpkin patch on Halloween, but the weather did not allow for that. My heart broke thinking about how sad my students would be. I decided to switch some things around and go to McDonalds instead. At McDonald’s the students work on skills we teach in the classroom. Some examples would be ordering food, waiting in line, and parking lot safety.

When we got to McDonalds the manager was so rude and told us that if we wanted to come eat there we should have called and asked them. Side note- there was one other person in the restaurant. He then rudely told us that if they wanted kids meals it would take them at least 45 minutes. Again side note- I had ten kids. It’s McDonalds- shouldn’t they be able to accommodate 10 kids meals without making children feel bad for showing up?

The man continued to be rude not only to us, by also to the other employees. I was in shock.

If you have a child with autism or work with children with autism you know that letting them play in the play land and then trying to explain that they have to come sit and eat after would be near impossible. We spent our entire time waiting for them to make kids meals. I felt awful and the kids trip was ruined. Not to mention they over charged most of the children for extra drinks.

I contacted McDonalds many times. I kept being told someone would call me back. The only person to call me back told me she was sorry for my ‘perception’ of what happened. I am sick to my stomach that a company so large and well known is okay with this treatment. I still have yet to hear from McDonalds or at least anyone that actually feels that this behavior isn’t okay. Please share in hopes that someone from McDonalds cares and helps raise awareness.

#McDonalds #Autism #Autism #AutismAdvocacy #SpecialEducators #SpecialEducation #SpecialNeedsFamilies #SpecialNeedsParent #SpecialNeedsPrograms #SpecialNeedsCommunity #Disability #RespectAbility #HunterSyndrome #GeneticDisorder #InclusionAndSpecialNeeds #BeKind21 #ParentsOfChildrenWithSpecialNeeds #DisabilityAdvocacy #IntellectualDisability #Teachers

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MightyPoets 5y

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To the person who feels hopeless on their diagnosis journey.

I see you.
I have been you.
I am sorry you feel lost.
Not having a name to put to the thing that hinders your bodies ability to function is menacing.
But don’t give up.
It may not be today, or tomorrow, or this year,
But if you are persistent and advocate for yourself,
Someday you will meet the right doctor that will give you the diagnosis that you have been yearning and praying for.
The diagnosis that makes everything else make sense.
So just keep keepin’ on.
Because I see you,
Because I have been you,
and because no one deserves to feel hopeless.
The is light at the end of the diagnosis journey.
❤️🦓
#MightyPoets #EhlersDanlosSyndrome #EhlersDanlosSociety #RareDisease #GeneticDisorder #LivingWithPOTS #RaynaudsPhenomenon #ChronicPain #Osteoarthritis
#ChiariMalformation #ArnoldChiariMalformation #PosturalOrthostaticTachycardiaSyndrome #MCAS #MCAD #MastCellActivationDisorder #MastCellDisease #SpinaBifida #TetheredSpinalCordSyndrome #TetheredSpinalCord #rarediseaseawarenes #Dysautonomia #ChronicIllness #Spoonie

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Just Natasha

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@justnatasha

EhlersDanlosSyndrome 5y

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The signs were always there! #elhersdanlossyndrome

I’m almost 40 years old and the signs of elhers danlos syndrome have been there since I was born! Not to mention my discovery lead to realizing that my brother has it too!
Had echocardiogram and appointment made with genetics department! Meanwhile my shoulders either partially dislocate or fully dislocate! Don’t get me started on my knees and ankles! And my back ugh! I sound like a walking rice crispy treat literally! My new life! #EhlersDanlosSyndrome #GeneticDisorder #dislocations #JointHypermobilitySyndrome

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Does anyone else have a diagnosis album? #Diagnosis #PrimaryImmunodeficiency #CVID #RareDisease #GeneticDisorder #ChronicIllness

When I was diagnosed, I was listening to Coloring Book and now I listen to it whenever I’m sad or nervous about my health. It always makes me feel better.

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