genetic disorders

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genetic disorders
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Have you ever met anyone who lives with the same rare disease as you? What was it like?

Living with rare disease can not only feel rare in the sense of statistics, but also in building community and finding someone to share experiences with. Finding others that relate can be hard. Have you ever met someone that shares your same rare condition? If so, what was that like for you?

Would love to hear your experience! Feel free to share in the comments below.

P.S. If you need a resource to help you connect with others with rare disease, you can check out the nonprofit NORD, a great resource for rare disease patients:

#RareDisease #ChronicPain #ChronicIllness #GeneticDisorders #MentalHealth #Disability #Migraine #SUNCTHeadache #StiffPersonSyndrome #MedicalZebra #EhlersDanlosSyndrome #Spoonie #MarfanSyndrome #EmptyNoseSyndrome #morgellons #Syringomyelia #Neurosarcoidosis #BehcetsDisease #FunctionalNeurologicalDisorder

Home - NORD (National Organization for Rare Disorders)

NORD, a 501(c)(3) organization, is the leading patient advocacy organization dedicated to improving the lives of individuals and families living with rare diseases.
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How long did it take you to get diagnosed with your rare disease?

Living with a rare disease can mean years (and maybe even decades) of hospital visits, appointments, treatments, and procedures before receiving a proper diagnosis.

How long did it take for you to get your rare disease diagnosis? What has that process been like for you?

#RareDisease #ChronicPain #ChronicIllness #GeneticDisorders #MentalHealth #Disability #Migraine #SUNCTHeadache #StiffPersonSyndrome
#MedicalZebra #EhlersDanlosSyndrome #Spoonie #MarfanSyndrome #EmptyNoseSyndrome
#morgellons #Syringomyelia #Neurosarcoidosis #Sarcoidosis #BehcetsDisease #FunctionalNeurologicalDisorder

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What frustrates you most about living with a rare disease?

It's a no-brainer that living with a rare condition can be super challenging and frustrating at that. What about your rare condition do you find most frustrating? What do you wish people understood more about living with a rare disease?

Let me know in the comments below 💌

#RareDisease #ChronicPain #ChronicIllness #GeneticDisorders #MentalHealth #MightyTogether #Disability #Migraine #SUNCTHeadache #StiffPersonSyndrome
#MedicalZebra #EhlersDanlosSyndrome #Spoonie #MarfanSyndrome #EmptyNoseSyndrome
#morgellons #Syringomyelia #Neurosarcoidosis #Sarcoidosis #BehcetsDisease #FunctionalNeurologicalDisorder

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I’d like to meet people who have or a relative or know someone who has skeletal dysplasia. My nephew suddenly stopped growing and he was diagnosed with this genetic disease. I’ve had 3 professional medical opinions and none have given me any hope to increase my nephew’s height. Has anyone found help to increase height? I’d certainly appreciate any guidance. Thank you! #GeneticDisorders

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Please reach out to me #CCI #Craniocervicalinstability

Have you been diagnosed with craniocervical instability? I was diagnosed yesterday and I'm so frightened of it all. If anyone has it or has had it I'd really appreciate if you share your experiences and opinions about it with me. It's always easier to cope with something when you know youre not alone. #CCI #Craniocervicalinstability #EDS #HEDS #hypermobileehlers-DanlosSyndrome(hEDS) #HypermobileTypeEDS #MyalgicEncephalomyelitis #ME #ChronicFatigueSyndromeampME #ConnectiveTissueDisorder #GeneticDisorders #Zebras #MedicalZebra #CervicalInstability


Irritated with friends

I don’t really know where I’m going with this thought, but I need to get it out.
Halloween is approaching. Almost all of my friends have children (I don’t). Lately, conversations with most of them consist of how annoyed they are that the kids can’t trick-or-treat etc. I truly do understand that missing out on traditions is disappointing but I literally want to scream because that’s what they’re complaining about right now. Meanwhile, I’m in and out of hospital with serious health issues, it’s impossible to get appointments with specialists that I need to see. I can’t go in to work at the job I love. I can’t see my family and my husband has taken on everything. I do feel bad for minimizing what they’re feeling but I would consider myself lucky if that’s what I was concerned about right now. I have begun to isolate myself. I’ve deleted my Facebook account and it’s not really my priority to respond to my friends. “Thinking positively” and “getting fresh air,” will not fix my heart, blood disorder, gastrointestinal issues and the list goes on. I can’t hear that anymore. I have an incredible husband and I’m very fortunate to still have my mom and dad and I suppose I should just be content with that for now. #SinusTachycardia #GeneticDisorders #Hypertension #Pain #MentalHealth #UlcerativeColitis #Clotting disorder #exhausted

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What if you knew it was coming? #autoimmune #HashimotosThyroiditis #Fibromyalgia #CrohnsDisease #MajorDepressiveDisorder #Hereditary #GeneticDisorders

My mother, in the last 10 or so years, has been diagnosed with 3 autoimmune diseases. The chances of them being passed down are very likely. I already have Major Depressive Disorder that I inherited from both sides of my family. I am also being treated for low thyroid function. Any advice for someone hoping to get ahead of it all? I feel like it’s all inevitable.


Genetic testing

Have any of you had genetic testing? How does it work and what panels did you do? How many can you do? Was the information useful? I’m debating asking my doctor about if I’m eligible for a few reasons. The first being I have a serious chronic illness that has been undiagnosed for two years, and has taken a lot of my mobility and control over my body. Second is, my family has a large history of cancer. I know they don’t recommend it because of false positives, but there’s a lot of questions about my body I have I feel this might answer. Did it help any of you guys? #ChronicIllness #AutoimmuneImmunodeficiency #LivingWithPOTS


My Love-Hate Relationship with Invisible Illness Posts

Sometimes I love articles about invisible illness. They make me feel like I'm not alone. Like someone else understands. Someone else has the same experiences I do. It makes me feel hopeful.
Other times, I'm in terrible pain due to my chronic illness and I wish I had never read those articles, because I realize the awful truth. I'm not alone. Someone else understands. Someone else has the same experiences I do. It makes me feel terrible. Sometimes even hopeless.
Hopeless because if I'm not alone, why isn't there an answer? Why is it so hard to find a doctor that knows what my condition even is, much less how to treat it? If someone else out there is feeling the same thing I'm feeling, maybe it's not quite as rare as we think.
The answer is that while SOMEone has a similar experience to mine and the spoons available to write about it, my condition is still fucking rare. How rare? Who knows, since doctors don't generally learn about it in detail, so how would it get diagnosed? There's not a lot of money in researching treatments for rare genetic conditions. There's also not a lot of point in teaching doctors to be in the lookout for the one patient per 5 years that they might see who has this strange condition they might mistake for just another case of fibro to not look further into. What are the odds of them catching me?
The internet is a massive, beautiful, wonderful network. It can do so much good. It makes it so people from far away can connect with one another. Rare people with rare problems. People who understand that the Disney dub of Totoro is absolute heresy with limited emotional content, and should be banned entirely. Unfortunately, it can also put hope in my heart of finding a solution to my biggest, most jointfelt problems. It's crushing when that hope is dashed by yet another night being woken up by pain with no impetus, and therefore no prevention. So yeah. To those of you who write posts and articles and stuff just like this, I love you. Also, fuck you a little bit for giving me hope. But mostly I love you and I wish you the same things I wish myself: many spoons and so much less pain. I wish you answers. I wish you restful nights and understanding humans around you. I wish you excellent nearby doctors who listen to you and don't write "drug seeking behavior" in your chart when you're simply frustrated about being in pain for so long. I wish you to never again hear the words "have you tried yoga? You've got to stay healthy, ya know."
Don't get your hopes up though ❤️🥄


#InvisibleIllness #ChronicPain #RareDisease #EhlersDanlosSyndrome #Spoonie #GeneticDisorders

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