#fabry

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La novia más bella @marcelamaars !! #Fabry&;Marce 🥂💍

Well... big news. I've been searching pretty desperately for answers to my health that just keeps getting worse. As you all know, I was diagnosed with Ehlers-Danlos Syndrome and Postural Orthostatic Tachycardia last year after an uphill battle to get a diagnosis. I thought I was done searching, but I just keep getting sicker and sicker. It wasn't until I got skin biopsy results back that I was given a major clue: the biopsies had zero sweat glands in them, even after resectioning. The neuropathologist who analyzed the samples said this was probably due to sampling error, but I realized that I didn't actually sweat at all in the places the biopsies were taken. This lead me to consider a super rare lysosomal storage disorder called Fabry's Disease. I sent an article on the clinical presentation to my father, who replied with a picture of red dots all over his stomach; they were angiokeratomas, a huge marker of Fabry's disease. I had no idea he had them because I don't see my dad without his shirt often! Haha. I shot an email to my neurologist asking if Fabry's was a possibility, and she said yes. She referred me to a doctor with a very long wait, so I nabbed the diagnostic algorithm from Mayo and brought it to my PA. My PA agreed with my hypothesis and ordered the test. On Monday, about a month after this transpired, I woke my boyfriend up by screaming-- the results were in and it is Fabry's. Fabry's is deadly and my father is past the life expectancy, so my heart broke at the thought of coming so close to losing him. Fabry's is treatable. There is an infusion drug that stops the progression of the disease and improves symptoms. Looks like I am going to med school after all! You bet that is going on my application. Lol. #samejobdifferenttitle #noraise #fabry #fabrys #fabrysdisease

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⠀⠀⠀⠀ㅤ ⠀⠀⠀⠀ ⠀ ⠀⠀ متوأضـِــع تُـــأرِكگ األثكــل لخـالتک❥ "̮
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#FABRY

7A der #theresienschule im #Fabry-Museum

Dupla platina 💿💿 @hooligansofficial #igaztortenet #fabry

Платье в наличии #sterlitamak #injeeshop #fabry #injee

Te banco amigo sos crack e e !!! #LaValle #7 #9 #fabry

Arrivo da te ... Con personalità @xcrossroma ✌️#gym #fabry

MOST RECENT

Aprecia a los amigos que te da la vida. #16añosdeamistad #Fabry 😊

5.8 miles this morning! I set out for 3ish solo miles going off of feel. Circled around and picked up one of my kids for 1.3 miles then 1.3 solo miles again. *
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I'm loving running off of feel these days! I have ended up increasing my speed and enjoying running again. *
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Even though these miles were supposed to be easy, they were only easy for my legs. My legs felt great but it was a mental challenge as the humidity was out of control! *
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#runhappy #runforfun #ihavearunnersbody #triathlontraining #tri #swimbikerun #fabry #fabrydisease

4 easy miles on the treadmill this morning! I end every treadmill run with shuffles and walking backwards. ...so beneficial for the glutes to work from all sides!
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This pic is also proof that it's possible for a fabry patient to sweat! Woo hoo :)
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#mizunorunning #runhappy #womensrunningcommunity #tri #triathlontraining #swimbikerun #fabrydisease #fabry

This morning was 1hr 15min on the trainer for over-unders. A rough ride but I know how beneficial they are!
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This was my view for most of my workouts while I was in Hawaii! #fitnessblender for the win!! The only equipment I brought on vacation were my running shoes and some bands but I got a great workout in everyday. *
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2.5miles this morning. I ran without headphones for the first time in a long time and I never looked at my pace! Just tried to make my second mile a bit faster than my first and I did it. Yay!
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I really struggled to get up today :( I was gone on vacation to Hawaii recently and although I worked out everyday while away, I've really struggled since coming home. My body just feels so tired. Here's to hoping discipline and consistency carry me through this funk!
#mizunorunning #swimbikerun #tri #triathlontraining #fabry #fabrydisease #womensrunningcommunity #runforfun #nike

#Papá #Fabry Que mañana fría...

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