#raredisease

MOST RECENT

I’ve posted both photos before but took one down due to the unthought out rant that went along with it. These were taken at the beginning of April. They are beautiful photos taken by @slic.creations ,but let me tell you a little about what’s actually going on behind these snap shots.

The 2 weeks leading up to these photos I had been peeing blood & then what looked like straight coffee. I had felt my body in the 6 weeks prior to that breaking down. In that 6-week window I had only done yoga maybe 4 or 5 times. The other days I was in so much pain I could hardly do the daily tasks so many takes for granted.

Easter was the first day I knew something was serious. My husband wanted to take me to the ER, but I compromised & went to the minimalistic care of an urgent care. I told them I thought maybe I had a bladder infection, so all they did was give me an antibiotic & send me on my way telling me to follow up with my doctor. I hid the pain that day while spending time with family. I always keep it to myself. That’s just how I am. I lie & tell people I am fine, because it seems exhausting trying to convey what is happening inside me.

Jump back to 2 weeks after when these were taken, I had yet to go in to see my doctor. I was avoiding it. My body & face were swollen, & my pain was intense. I wanted to be outside instead of limited to my house. I was too weak to hike, so my husband drove me to these Springs. It wasn’t until a few days later that I found out that I not only had kidney stones, but I also had Rhabdomylosis. If anyone is familiar with that, you know it’s no joke. Most people are in bed with either one of those things, but I kept telling myself I was fine.

I know my IG page is all over the place & people usually have one thing that defines them, but I am multifaceted person that is still trying to find her rhythm. One thing I want to convey is the adversity I go through regarding my genetic misfortunes I have been dealt & the things I’ve learned from them. I normally keep things to myself, because I DO NOT want pity from anyone. I want people to know what it means to have strength in real adversity & that weakness is a choice that only you can make.

❤️❤️❤️ Research is progressing, and doctors and scientists are very close to treatments and maybe even a cure that will raise our girl again to her feet.
The truth is, we need your help , Your donations will lead to a better future for Sunčica and thousands of other children with Rett Syndrome. Only together can we make a miracle.
Please read all about RettGive organisation and about our doughter Sunčica here on link :
https://bit.ly/2rnuVue
#rettsyndrome #rettsyndromeawareness
#rettsyndrome #reverserett #raredisease #rett #rettsyndromeawareness #donation

A mini moment to remember from the #rainbowcentre last week. I popped Willow in a bumbo seat whilst I was getting my coat on and plonked this toy next to her, more to look like a good mother rather than actually believing she'd play with it. Well, pictures don't lie! Here she is pushing the wooden spinny things and really enjoying herself. I was over the moon! 🤗😁❤
#inchstones #embracethesmall #smalljoys #sentoys #caskgenemutation #epilepsy #raredisease #specialneeds #specialneedskids #specialneedsmoms #microcephaly #geneticdisease #rare #pchstrong #PCH #globaldevelopmentaldelay #developmentaldisability

Please give a warm welcome to 2.5 year old Carter and his family! <3 Carter was recently diagnosed with an NR2F1 mutation. Welcome to the family!
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#NR2F1 #NR2F1Foundation #BBSOAS #Family #growing #themorethemerrier #RareDisease #genetics #neurology #cutekid #kid #welcometothefamily #welcome

I can't help but shed a tear today.
When i look in Lillys dear of clothes at the beautiful dresses I've purchased for her.
That she just plain refuses to wear anymore.
Living with sensory processing disorder is not easy.
It's not easy for Lilly to find life so overwhelming, that even the movement of a skirt is too much to bear.
It's not easy being mum. Not knowing how to help make life easier for her.
So I'm sadly considering putting these items up for sale. Because i can't stand being reminded that she will never wear them again!
And then hopefully we can find equally vibrant and amazing clothes that she will tolerate and be happy in!
I know they are only clothes. But they represent such a deeper picture of our day to day life! .
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#livingwithautism
#differentnotless
#bornthisway
#autism
#autismawareness
#sensoryprocessingdisorder
#undiagnosedgeneticsyndrome
#raredisease
#1in17
#GDD
#globaldevelopmentdelay
#littlebirdbyjools
@littlebirdbyjools
#rainbows
#colourfulkids
#sorrynotsorry
#differentlyabled
#aspie
#aspiemum
#takeawaytheirpain
#doesitgeteasier

Spinal Muscular Atrophy(SMA) is a rare neuromuscular disease characterized by loss of lower motor neurons and progressive muscle wasting, often leading to early death. The patients with SMA are difficult with fundamental activities such as walking, eating and breathing. In December 2017, the only treatment ‘Spinraza’ was approved by FDA in South Korea. But, it’s impossible to access this treatment for high price without coverage of insurance.
#SPINRAZA: Miracle 4 All’ is the campaign for insurance coverage(NHI: National Health Insurance) of Spinraza in South Korea. If you want give a miracle for someone with SMA, please share or regramm this or tag ‘dear my sma’ account(@dear_my_sma). :) #spinraza_miracle4all #spinalmuscularatophy #raredisease #spinraza #insurancecoverage
#healthinsurancereviewassessmentservice #nationalhealthinsuranceservice
#ministryofhealthandwelfare #southkorea #giveamiracle
#share #followme #regramm #campaign #humanrights

Spinal Muscular Atrophy(SMA) is a rare neuromuscular disease characterized by loss of lower motor neurons and progressive muscle wasting, often leading to early death. The patients with SMA are difficult with fundamental activities such as walking, eating and breathing. In December 2017, the only treatment ‘Spinraza’ was approved by FDA in South Korea. But, it’s impossible to access this treatment for high price without coverage of insurance.
#SPINRAZA: Miracle 4 All’ is the campaign for insurance coverage(NHI: National Health Insurance) of Spinraza in South Korea. If you want give a miracle for someone with SMA, please share or regramm this or tag ‘dear my sma’ account(@dear_my_sma). :) #spinraza_miracle4all #spinalmuscularatophy #raredisease #spinraza #insurancecoverage
#healthinsurancereviewassessmentservice #nationalhealthinsuranceservice
#ministryofhealthandwelfare #southkorea #giveamiracle
#share #followme #regramm #campaign #humanrights

Reposting this becuase I needed to hear it. Greatful that I don't have to take as many meds these days but definitely still have to deal with jerky ER docs. It's so important to advocate for yourself is all aspects of your life
・・・
Definitely feeling a bit defeated lately. Having a chronic condition can feel like a full time job at times between alarms going off 7 times a day for meds, having to monitor what I eat and drink, and constantly worrying about lab values. Having an invisible illness is all these things with the added stress of constantly having to justify ourselves and our conditions to other people. Sometimes it's nurses that lack empathy or doctors that are put off by the fact that we might know more about or conditions than they do. Sometimes it's the people in our lives that just don't get that some days we just need them to cut us a little slack. Be kind to people. The fact that you can't see another person's battle doesn't mean they aren't fighting one. #invisibleillness #raredisease #gitlemansyndrome #hypokalemia #chronicillness #venting #empathy #bekind #youarecapable #weallhaveourownbattles

I write that she “cried all the time.” Make no mistake about it- she did. And it was awful. But when she wasn’t crying she was laughing & tapping her arm incessantly. Sometimes it was involuntary, just as the crying was. But there was pure joy there, too.
🗣
I won’t ever deny the reality of her life which was actually mostly awful seizures, nonstop crying, & a body that betrayed her in every way. Most days it felt like hell for all of us (but especially her) because there was nothing in the world that helped. Every medicine was tried, every method of calming. Every thing a human can do to ease the burden of another’s suffering- I did. And it wasn’t enough. It would never have been enough.
🗣
I also won’t deny the sweet, brief moments within the wicked days where her nose scrunched up just like so & I could see her true self there, trapped behind a failing brain & body. Her true self wanted laughter & dancing & walking in the sunshine & ultimately Heaven. Remember how I mentioned she was smiling after she died? She was. Her face loosened & a smile formed & I knew immediately she was with her Creator. Scrunch nose & all. 👃🏼🥰
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#mabelmonday

Ain’t not fun to have chronic illness. Always something. Save my thumb pls, I said to the doctor.
Ei oo niin kiva olla kroonisesti sairas. Aina jotaki. Pelasta mun peukku, sanoin lääkärille.
#cronicillness #mctd #raynauds #savemythumb #raredisease #krooninensairaus #valkosormisuus #harvinaiset #pelastamunpeukku

МАРШРУТИЗАЦИЯ ПАЦИЕНТА С БОЛЕЗНЬЮ ПОМПЕ (И ДРУГИХ ФОРМАХ НЕРВНО-МЫШЕЧНЫХ ЗАБОЛЕВАНИЙ) ☝🏻☝🏻☝🏻 Как многие из вас уже подметили, форм миопатии, великое множество, однако, все они имеют схожие:
-Симптомы;
-Проблемы и методы диагностики;
-Психологичекие проблемы и прочее.

Поэтому, я, вместе с вами, решила разработать, так называемую маршрутизацию* пациента с нервно-мышечными заболеваниями. 🆘(*маршрутизация-процесс определения маршрута⚠). Очень прошу вашего содействия, поделитесь своим опытом, чтобы у нас получился максимально эффективный маршрут! Это необходимо для того, чтобы облегчить путь пациента, с таким редким, неведомым недугом, как миопатия! Ведь все мы, понимаем, как сложен путь, такого " не типичного пациента"! Данный пост, относится не только к болезни Помпе, но и к другим формам миопатии. Для пациентов Помпе, будут дополнительные пункты. Поэтому смело читаем и участвуем все все👍
Я считаю, эту тему, необходимо разделить в отдельные блоки. А в них будут входить следующая информация: -ПОСТАНОВКА ДИАГНОЗА: к какому врачу обратиться, какие анализы сдавать и пр. -РАБОТА С ОТКАЗАМИ ВРАЧЕЙ: "перебрасывание ответственности", переписки с медицинскими учреждениями, жалобы и пр. -ПОЛУЧЕНИЕ ИНВАЛИДНОСТИ: по каким критериям присваивают группу инвалидности людям с нервно-мышечными заболеваниями. -ЧТО ДЕЛАТЬ, ЕСЛИ БОЛЕЗНЬ НЕ ЛЕЧИТСЯ: как жить дальше, поддерживающая терапия, витаминотерапия, массажи, ЛФК, поддержание психологического фона). -ЧТО ДЕЛАТЬ, ЕСЛИ ТЫ "ВНЕ ПЕРЕЧНЕЙ": как получить лечение, проблемы получения, что делать, если отказывают в терапии.
РЕБЯТА, ЕСЛИ У ВАС ЕСТЬ ПРЕДЛОЖЕНИЯ, ЧЕМ ДОПОЛНИТЬ ДАННЫЙ РАЗДЕЛ, ПИШИТЕ В КОММЕНТАРИЯХ, ВЕДЬ ТОЛЬКО ВМЕСТЕ МЫ СИЛА, ПОМНИТЕ ОБ ЭТОМ☝🏻. P.S. Ну а я высылаю вам частичку себя с любовью и пожеланиями всем здоровья и отличной недели!😊🙏🏻 #ЗапискиРедкогоПациента #миопатия #болезньПомпе #боремсязамышцы #маршрутизацияпациента #raredisease #pompewarrior #pompedisease #pompepatient #миопатия #боремсязамышцы #болезньпомпе18

I have spent the last few weeks going through all kinds of tests to establish a baseline for my new pulmonologist. Pft's, xrays, ekg, labs, 2 ct scans... I feel like a pin cushion.
The new pulmonologist is very real and never sugar coats anything and Friday when we reviewed all of the results he was no different. The only test that came back normal was my bloodwork and only barely.
My heart is showing issues. I have new nodules growing in my right lung. And my overall lung function is now severe at only 44%. The doctors new prognosis is that I have maybe 5-10 years before I reach end stage copd.
5 -10 years is not nearly long enough!
May you never take one single breath for granted.

#sarcoidosis #sarcoidosisawareness
#sarcoidosiswarrior #copd #mylungshateme #takecontrolofyourhealth #weneedacure #icantbreathe #cbdlife #cbdheals #naturalmedicine #nevergiveup #neurosarcoidosis #justbreathe #stopsarcoidosis #chronicillness #raredisease #mondaymotivation

Baby Gerry’s in pre-op appt..awaiting some rioting procedures..pray all goes well today💖#sickkids#iwk#babygerrystory#hibch #raredisease #warrior#specialneeds

Spinal Muscular Atrophy(SMA) is a rare neuromuscular disease characterized by loss of lower motor neurons and progressive muscle wasting, often leading to early death. The patients with SMA are difficult with fundamental activities such as walking, eating and breathing. In December 2017, the only treatment ‘Spinraza’ was approved by FDA in South Korea. But, it’s impossible to access this treatment for high price without coverage of insurance.
#SPINRAZA: Miracle 4 All’ is the campaign for insurance coverage(NHI: National Health Insurance) of Spinraza in South Korea. If you want give a miracle for someone with SMA, please share or regramm this or tag ‘dear my sma’ account(@dear_my_sma). 🙂
#spinraza_miracle4all #spinalmuscularatophy #raredisease #spinraza #insurancecoverage
#healthinsurancereviewassessmentservice #nationalhealthinsuranceservice
#ministryofhealthandwelfare #southkorea #giveamiracle
#share #followme #regramm #campaign #humanrights

Guys...I woke up at 5am today (but actually got out of bed at 5:22 😅), did a work out (haven’t done anything in a WHILE), + washed my hair before 6:30!! Anyone who knows me knows I despise washing my hair, let alone doing it in the morning. On a MONDAY. 🚿

Anyways, it’s just hitting me that we’re TWO months away from our first fashion show! 😭 I’m excited, nervous, anxious, just all the things right now. But looking forward to finishing these last few weeks of 2018 strong. 💪🏽

What are you doing today to benefit your future self? Seriously. Not even asking for a friend, asking for myself because I’ll take any and all advice! 😄 Okay I’m done talking. Happy Monday, guys! 💜
📸: @claromiguelv

‪Please don’t forget to pop your tokens into the Annabelle’s Challenge box when shopping in the @millgatebury to help us win £750 this Christmas🤞we are currently in 2nd place 🤭‬ #vasculareds #veds #ehlersdanlossyndrome #ehlersdanlos #reds4veds #charity #annabelleschallenge #genetics #COL3A1 #raredisease #bury #millgatebury

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