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Voices from the Past: Jennifer M’s Daughter, Undiagnosed Bio

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undiagnosed6

Hello
My daughter has recently been tested for cushings syndrome. She is nine years old.

when she was 5 years old she went completely blind and forgot everything. her OT thinks it might have been a mini stroke. The doctors could not find anything wrong with her. She always had a desteneded belly the doctors told me it was constipation. this year in Feburary she developed a buffalo hump. the doctors told me she had a flesh eating bacteria. I took her to the hospital they told me it was scoliosis.

After fighting with a doctor I was finally refered to Pittsburgh childrens Hospital. I was seen by an onocologist. He ran the cortisol test we are still waiting to hear the results.

When I was a child in 3rd grade I went from a size 7slim to a 16 plus in one year. I also have cognitive delays. we both suffer from migerains and other people in my family have the depression. my cousin had some rare bird disease and my mom had the diabetes high blood pressue and died of small cell carcinoma. If it wasn’t for the buffalo hump I would have never known that this condition existed.

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Voices from the Past: Jessica, Undiagnosed Bio

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First of all – I have to excuse my language – I’m Swedish, and will not always be able to find the right words.

After several years of increasing symtoms some of which worsened severely a couple of months ago, I finally found “Cushings disease” and recognised most of the symtoms. I’ve suffered from severe depression and thereafter adrenal burnout, and have explained most of my problems from this point of view. It’s “only” stress related, I’ve thought to myself.

I’ve always been slender, but gained weight using antidepressives. After ending SSRI I managed to loose weight again (I love running, and exercised a lot!) But my face stayed round and my belly stayed big. (Today BMI 21 and look 7 months pregnant)

I’m very easily bruised since several years.

I wake up several times each night and it’s often very hard for my to fall asleep again.

I get easily exhausted, mentally and physically. I’ve got lowered simultan capacity, am sensitive to impressions (sounds and vision)

My skin is very dry and thin and looks like paper on the back of my hands and on my lower legs.

My cheeks are always red, as well as the front of my neck.

I’ve always had extremely low blood pressure, and now it was high (in the lower region)

Inflammations won’t heal. I’ve had stressfractures in my left foot twice the last couple of years.

My legs always hurt.

The last two months my strength has decreased a lot!

I’m always thirsty and pee a lot.

I live extremely healthy (Exercise, eat good, hardly any sugar, exercise bodyscan/meditation, minimum of alcohol – my day ends extremely early) – all in order to manage my part time job, and my two children who are in great need of me.

And now we’ve found that my cortisol is high (urine and blood), ACTH is high and I’ve been a patient for a couple of days for several bloodtests, another urinetest and dexamethasone-test. Tomorrow I’m scheduled for an MRI, and next week I’ll see a doctor to get the results.

It seems that I’ve got Cushings – and my first feeling was a sense of relief. All this suffering all these years, and I’ve always thought that I wasn’t trying hard enough. And the explanation was that something was growing in my head that they would be able to cut away. And the tumour is almost always benign.

But having read some stories on the internet I’m suddenly scared. I realize that you are in deeper need of writing if you don’t get well, but still I’m suddenly very scared.

If anyone out there is a “success” (when it comes to getting well again) please respond. I desperately need hope.

Jessica

Voices from the Past: Kendra D, Adrenal Bio

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My journey to writing this bio started in 2014, 34 years old.  I ended up in an emergency room in Denver while travelling with severe and unknown abdominal pain.  It came on rapidly during a lunch and I was taken to hospital via ambulance from my hotel room.  Luckily, in Denver, you get a CT scan when there is something wrong with you.  The source of the abdominal pain was never determined, however, the attending physician gave me a CD of the CT, letting me know they had observed a small tumor on the left adrenal gland and even though likely benign, I should discuss with my family physician in Canada.

Back home, I did let my family doctor know and they dismissed it.  Over the next year, I struggled with weight gain and depression, since a surgery the year prior to treat WPW (Wolf Parkinson Whyte syndrome).  It’s an extra electrical pathway in the heart that produced rapid heartbeat (SVT), starting in 2011.  3 years and several physicians later, I underwent and electrocardiogram catheter ablation after a trip to the emergency room with a heartbeat of over 200 BPM’s for approx. 5 hours.  Luckily the emerg room physician was also a cardiologist.  He recognized a small irregularity on my ECG.  I was admitted that night and had the procedure done in 5 days.  After that procedure, I noticed a decline in my energy.  Started gaining weight and just didn’t feel like I had.  I chalked it up to the rapid heart rate accounting for all the gusto I used to have not being a medical professional and that being the only real change in my life to date.

I went to see a naturopath to discuss my symptoms and try to find some answers.  I was ‘diagnosed’ with adrenal fatigue syndrome which I’m sure many of you have heard of.  And you also know how much the mainstream medical community thinks of the ‘condition’.  Not much.  But the books I’d read fit my situation and I went down the road of hormone replacement therapy.  Months of hard to find prescription pills and creams that are not covered by insurance became the bain of my existence and I wasn’t seeing measurable improvements.  I became frustrated and started cleansing, diets, supplements, and working out regularly.  Between strict diet control and working out hardcore daily (crossfit, running, weights), I started to feel pretty good.  I also started taking antidepressants, which really pushed my energy levels up, especially in the initial 6 months.  Then they would plateau, so I would try something different.  Same thing over and over.

That was the last 3 years of my life.  Trying a new drug.  A new routine.  A new relationship.  A long yo yo of up’s and down’s.  If I gained weight and felt lousy, I attributed it to the pills not working anymore.  A relationship that wasn’t working.  Stress.  Work.  Being a single parent.  If I changed something up, I could lose the weight.  If I looked good, I felt good.  That was the litmus test – never mind the depression and anxiety that was ever present.

In 2018, I began to put on weight.  I began to suffer from unmanageable anxiety/depression.  I was so tired, I completely stopped going to the gym.  I went to see the doctor about a new antidepressant.  In the clinic, they noticed my blood pressure was unusually high and started to monitor.  I was prescribed a high blood pressure medication as well as a new antidepressant.  The antidepressant was intense.  I started reading up and what I read scared me.  In conjunction with high blood pressure, I started to really consider that I’m possibly doing more harm than good.  Plus, I was not feeling better like I had in the past.

I quit both the antidepressant and the HBP meds.  Started up with the more natural approach – CBD.  Supplements.  Giving myself a break from hard core exercise.  And reading.  Everything.  In 6 months, I had gained approx. 40 lbs and weighed as much as I had the day I gave birth to my son.  My depression was unmanageable.  I was going through a lot of work/relationship stress as well.  I had tried the ‘chill out’ approach and it simply was not working.  I went back to the doctor, who referred me to an endocrinologist.  I remember bawling in her office bc I felt like a failure and a total loser.  Admitting how my weight had spiraled out of control and how I could not manage my mental health and I’d stopped taking my prescription for HBP – I felt crazy.  She looked me in the eyes and promised to do everything she could to figure out what was wrong.  In that moment, I felt like maybe there was something wrong, maybe I wasn’t crazy.  TBD.

So we spent the next year doing all of the tests.  High cortisol being the constant result.  I started back on a HBP med that acts also a diuretic – which at least helped with water weight.  At the end of all the testing, my endo revealed that she suspected cushing’s syndrome and since we knew there was an adrenal tumor from way back, we re scanned and determined it had doubled in size.  Good chance it could be the culprit, especially if increased in size, it’s a good indication that it is active.  She referred me to one of the best endo surgeons in Calgary and let me know that if her diagnosis did not make me a candidate for an adrenalectomy, the surgeon would not perform it.

I’ve spent the last several months not knowing what to expect.  I think many of you can relate to living in a state of being thankful for an answer but still in disbelief.  I still battle in my head with ‘did I cause this’, ‘is this actually what’s making me sick’, ‘what if I remove my adrenal gland and I never feel good again’, ‘what if the tumor isn’t the culprit’.  I have one last CT scan upcoming Aug 7, prior to setting a surgery date and suspect it will fall within a few weeks of the scan.  I’m looking forward to getting it over with one minute and then feeling really scared the next.

I know I can’t live my life in my current state so I have to proceed with whatever solutions are being offered to me.  That rationale promotes a positive mindset.  But it’s one day at a time.  Some days I feel great, some days I can’t get out of bed.  Still living a yo yo life.  My work keeps me pre-occupied and gives me a reason to get out of bed in the morning.  My therapist helps keep me sane.  No antidepressants.  My family has been a great support.  Most people have never heard of Cushing’s so I just stopped telling people. It is isolating.  People assume I’ve gained weight bc people get fat.  And I have to just embrace where I’m at and not let that affect me so negatively.  This is a rare disease.  I’m excited to share more of this journey on the other side.  These bios have given me such peace of mind over the last several months.  Thank you for listening.

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Voices From the Past: Paul M (Paul), Pituitary Bio

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Hi All,
I was diagnosed 4 years ago. I had extreme weight gain despite a very physically active life style. I would require less than 2 hours a night of sleep. Eat less than 1,000 calories per day and exercise 3-5 hours a day. I had the emotional swings as well. I would bruise or cut very easily. Doctor suspected Cushings after I displaced my knee cap for the second time due to Patella Tendonitis.

Months of testing resulted in what the doctors considered a low likelihood for positive outcome, the surgeon (supposed to be one of the best) agreed to remove the tumor either way. It was filling the Sella to the point it was pushing on my pituitary. It was wrapped around my optical nerve and would probably cause problems with my eyesight.

I was told that I would be back to work in 3 weeks.

Post Surgery my Cortisol levels never rebounded. The doc gave me 10mg of cortisol with no affect. Then they gave me 40mg and I could get up to go to the bathroom. Within an hour levels were back down to 3 (whatever).

They put me on 80/40mg of Cortisol for morning and noon each day. I still was basically unable to move. After 1 year. I was off cortisol and passed the suppression test. And still wasn’t losing weight, felt sick all the time.

It appears my anterior pituitary gland has not recovered. I don’t make enough TSH or the hormone to induce Testosterone. I took the Gel for testosterone with poor results. My thyroid tests are considered inconclusive. I try to feel out my thyroid dosage. Now I get testosterone implants. They seem better.

Basically put, four years later I feel almost as bad most days as before the surgery. Weight gain is still an issue. The major differences are, I sleep really well. I don’t bleed at the touch. My feet are very week, I could sleep 15 hours a day.

 

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My life wasn’t always so charmed-Sam DeBianchi

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Bravo’s Million Dollar Listing Miami‘s high-powered Realtor Sam DeBianchi may be known for selling some of the most spectacular properties in South Florida, but in the new issue of Life & Style, the reality star reveals that her life wasn’t always so charmed.“I almost died at an early age,” Sam exclusively says to Life & Style about suffering from Cushing’s disease as a child.

The disease, which occurred when a pituitary tumor bloated her body, had cursed her with thick facial hair. “It gave me osteoporosis and diabetes — and it was going to kill me,” Sam tells Life & Style.

Cushing’s disease also caused Sam emotional pain from bullying she experienced in middle school. “They would circle me every day and go on and on about how ugly I was,” Sam recalls. “I’d cry to my mom and dad, begging them to home school me.”

But at 14, a visit to the gynecologist changed everything. “He rubs my face and says, ‘You have a lot of hair,’” Sam remembers. “And I’m thinking, ‘Thanks, jerk!’” But the doctor was genuinely alarmed by the growth and sent Sam to an endocrinologist. Ultimately, she was diagnosed with Cushing’s.

Sam went to an expert at the National Institutes of Health in Bethesda, Maryland, where she became a case study and underwent two delicate surgeries at 15. “The doctor said the tumor was near the optic nerve and if something went wrong, I could go blind,” Sam solemnly reveals.

Thankfully, the operations were a spectacular success. “I feel so lucky to be here today, living the life I love,” Sam says. “Now some of the people who were nasty to me back in school suddenly want to hang out,” she tells Life & Style. “I’m friendly to them — but I don’t forget.”

From My life wasn’t always so charmed-Sam DeBianchi |SpyGhana.com.

From Misdiagnosis to Mission: How One Man’s Ordeal Became a Blueprint for Perseverance

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When Dean Gregorie first developed a small hump below his neck at age sixteen, few paid it any mind. His mother, though, saw more. Weight gain. The round face. The bone-deep fatigue. To her, it spelled something far more complex: Cushing’s disease. But when she voiced her concerns, doctors smiled politely and waved them off.

“Teenagers gain weight,” they said.

What followed was not just a lapse in judgment; it was a decades-long system failure. Dean became the unseen patient. The ignored anomaly. No one had time to read the story. But like any great founder building something against the odds, he—and his tenacious family—refused to give up.

The early symptoms were dismissed with lazy diagnoses: poor diet, lack of exercise, and normal adolescence. But Helen Gregorie was relentless. She scoured medical journals. Dug through case studies. Her instincts shouted, “Cushing’s.” But doctors, operating within conventional playbooks, refused to explore a rare diagnosis. In startup parlance, they ignored the outlier data, clinging to averages instead of curiosity.

Dean was a patient who was overlooked not because of ambiguity, but because of predictability. If he had been a product, he would’ve been shut down in beta without anyone reading the specs.

The Burn Cost of Delay

Over the next two decades, Dean cycled through over fifty medical professionals. His symptoms worsened: purple striations, skyrocketing blood pressure, relentless fatigue. And yet the narrative never changed. “Lifestyle,” they told him.

Imagine pitching the same idea to dozens of venture capitalists, each one dismissing it for a reason you know isn’t true. Dean wasn’t lazy or noncompliant. He was fighting a disease no one bothered to look for.

Still, he climbed the corporate ladder in the automotive coatings industry. He earned promotions. He delivered results. But his body was breaking. And behind every workday win, there was a night spent battling exhaustion, shame, and the creeping belief that maybe it really was his fault.

A Systemic Breakdown

By 2013, his body sent a blunt memo: collapse. Dean landed in the ICU with diabetic ketoacidosis. An endocrinologist was consulted, but not to solve the underlying mystery—just the emergency. Despite glaring signs—signs his family had documented in detail—no one ordered a test for Cushing’s. Even after introducing a second endocrinologist, even after infections ravaged his system, even as his skin tore in a workplace fall, nothing changed.

It wasn’t until 2019 that a single primary care physician broke the inertia. He reviewed his whole history, acknowledged the pattern, and ordered the cortisol tests that would finally unveil the truth: Cushing’s disease. Twenty-three years after it all began.

Recovery Is Not Linear

The tumor was removed in 2020. But there was no triumphant return, no swift rebound. Recovery was glacial. Dean’s body, once flooded with cortisol, was suddenly starved of it. Cortisol had to be administered by medication. Energy flatlined. Nights stretched long and restless. Then came the back pain, unrelenting and tied to years of untreated structural damage.

“There wasn’t a morning I woke up feeling better,” Dean says. “There were just mornings I woke up and decided to try again.”

Sound familiar? Founders know this rhythm. Recovery isn’t always exponential growth; it’s the grind. The grit. The decision to show up despite the metrics still being red.

Turning Pain into Platform

This book, Surviving Cushing’s Disease: A Young Man’s Journey, is Dean’s first act of advocacy. Not a TED Talk. Not a foundation. Just this: a deeply personal, unapologetic account of what it means to be invisible in a system designed to treat averages, not anomalies.

In its pages, the symptoms of Cushing’s—unexplained weight gain, thinning skin, recurrent infections—are given shape and language. Not to diagnose, but to awaken awareness. Dean’s story is not a callout. It’s a call forward.

Startups, Survivors, and Second Opinions

Entrepreneurs can draw from Dean’s journey as much as patients can:

  • Follow the fringe data: When something feels off—even if others don’t see it—pursue it.
  • Pressure test the system: Experts are invaluable. But they are not infallible.
  • Leverage the pain: Your hardest chapters may become your most powerful pages.

Because sometimes, the most resilient visionaries don’t wear lanyards or give keynotes. They survive in silence for years. Then one day, they write.

And someone else learns how to speak up.

From https://www.entrepreneur.com/en-in/news-and-trends/from-misdiagnosis-to-mission-how-one-mans-ordeal-became-a/494902

About Dean’s Book

This narrative nonfiction novel chronicles my son’s twenty-year journey to get his Cushing’s disease diagnosed—a journey that took far too long. Throughout the book, I highlight opportunities for testing that could have been done according to endocrinologist guidelines. The core message is clear: early diagnosis is crucial for people to live vibrant lives.

Just When The Caterpillar Thought The World Was Over, It Becomes A Butterfly

In “Surviving Cushing’s Disease: A Young Man’s Journey,” author Chuck Knueve shares the compelling story of his son’s 20-year struggle for a correct diagnosis of Cushing’s disease.

As a Doctor of Pharmacy, Knueve offers a unique blend of medical insight and personal reflection set against the practices of endocrinologists in the US and UK. The book explores the challenges within the healthcare system, the relentless quest for answers, and the strong family bonds that support his son throughout.

This narrative highlights the technical aspects of dealing with a complex medical condition and celebrates the spirit of resilience and hope. Readers will find inspiration in this testament to enduring love and unwavering determination.

Voices From the Past: Crystal (Crystal), Pituitary Bio

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Hi, my name is Crystal and I’m new. I’m a 35 yr.old mother of a 5 yr. old with more energy in her little pinky than I have in an entire day and I’m married to an amazing man, who makes living with this possible.

I was finally diagnosed with Cushing’s Disease (excreting pituitary tumor). In April 2017. I had the typical doctor who didn’t believe me so I took it into my own hands and figured out what I thought was going on….Cushings without a doubt in my mind.

So I went to a naturopath and asked her to order me a 24 hr. urine test and when she got it she said I need to go to an endo asap. I had already made appointments with two, one being at OHSU in Oregon with one of the best pit. teams in the US. I only live 2 hrs. away and am sooo lucky for that. I know many people have to travel much further to get the best healthcare for this.

Anyways, the endo I saw in Portland looked at me and immediately and said I had a very cushoid appearance and that we needed to do about 6 tests in the next two weeks. I did the tests, then had to do an MRI, which showed a 5×4 tumor in my pituitary gland, next was an IPSS to make sure it was 100% pituitary and not ectopic coming from somewhere else in my body. Once this was all confirmed I was scheduled for surgery in June.

As my surgery date approached, my symptoms got significantly worse and I finally called my endo to tell them. The nurse told me I had to deal with it until surgery and that there was nothing tI could do about my symptoms. Within 5 minutes of hanging up the assistant to the neurosurgeon called and told me surgery was being moved to the following week which was four days away. I had the transsphenoidal surgery about 6 weeks ago and my cortisol dropped to 0.6 in less than 24 hours after surgery. The neurosurgeon said I was technically in remission and although I’m happy, it seems to good to be true after the last couple years I’ve had. I came to this site looking for information on recovery. I know everyone is different and I was warned a little bit about it, but I’m pretty miserable and very curious how others recoveries are going.

Thanks, glad to be here. Crystal

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Voices from the Past: Katrina (Coloradokat), Undiagnosed Bio

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undiagnosed6

Hello,

I am not going to repeat the standard history here. I have been reading other bios and I am excited to read that so many others have the same issues I have and I am sad to note that they have received the same dismissive response from doctors (especially endocrinologists!). It really is like reading about your own life. It seems most of us have had to fight to get anyone to listen and like so many of you, I have already been through the “see a nutritionist,” routine.

Rather than repeat a story that reads just like so many others on this site, I will just share that I too have had years of trouble and recently my troubles have become exacerbated to the point that my lack of energy, weight gain, lack of focus, and cognitive issues have interfered with my ability to earn a living. As I am fighting that fight (you know, trying to get doctors to believe test results they actually took in their own facilities, or believing that you have real biological issues despite the fact that the current test shows normal results) as I fight, I am trying to find ways to address medical issues as best I can through natural means.

I have an MRI scheduled for later this month and I pray they will see something there because I am tired of fighting endocrinologists who repeatedly ignore my high cortisol test results with one excuse after another. More importantly, I have to get my health back in order to work and support my family. Right now, I have to find a way to lose some of this weight. You see, I have two jobs. One of my jobs is with US Army Reserves. I cannot stay in the army if I exceed a defined weight, and after serving two years in a war zone, I am not ready to lose my retirement benefits because I am over weight despite regular exercise and a healthy diet. I need to address many aspects of this disease, but the weight gain issue has to be resolved first.

Like so many of you, I am frustrated with the symptoms of this disease and I am angry with the endocrinology field for being so narrow minded and caring more about their reports than they care about their patients. When I am at war and the enemy does something different from their normal, reported, or expected routine, do you think I just give up? No, of course not, we have to find a way to protect ourselves, our troops, our bases, and civilians. We have to look at the situation and access it for what it is, not what it was supposed to be. Why are endocrinologists so stupid that they cannot think outside the box like that? UGH!

I guess you can tell that I am frustrated like the rest of you and I am thankful to find this site if only to know I am not alone. I wish all of you speedy diagnosis and healthy recovery. Once I achieve better health, I plan to do my part to help spread awareness. We can make changes in how patients are treated. It will not be easy and it will take more and more biographies, but I believe in the power of the people to make change. I have to believe in that. I have put my life on the line twice to defend it.

My best wishes and prayers to all.

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Voices From the Past: Mary S (ladysslipper), Adrenal Bio

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Originally from December 28, 2007

I recently completed a clinical trial at NIH because of an adrenal nodule. I also have hyperplasia of both adrenals.

Turns out I have primary hyperaldosteronism (which had previously been diagnosed) as well as elevated cortisol. I was told I don’t have Cushings but could develop it. Yet I do have unbelievably excessive sweating and have just begun to develop what I assume to be a buffalo hump–a lump at the top of my spine between my shoulders that is hard to the touch and painful.

My ability to handle stress is nearly nil; I sleep upward of twelve hours and more a day and yet get exhausted doing the littlest things. I’ve lost a lot of weight over the past two years because of nearly daily diarrhea–which I now believe may be caused by a deteriorating liver as I also have Heptatis C–and yet I have a fatty paunch which is beginning to show stretch marks I didn’t know I had.

My skin heals poorly and bruises very easily. I have splotchy skin, i..e, dark patches and totally pigment-less patches on my face. I was told my hypothalamus produces too much CRH which, in turn, triggers the ACTH to produce too much cortisol.

With two, possibly three, chronic conditions, I am beginning to worry about returning to work after my medical leave of absence ends this January.

I was on the pheochromocytoma support board until my diagnosis, and I know how helpful it was to have a group to turn to. I’m glad to see this one looks like a similarly supportive and informative group.

 

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Voices from the Past: Melissa, Undiagnosed Bio

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undiagnosed3

 

Im currently 24. In 2008 I was diagnosed with PCOS because of my very absent periods, an ovary full of cysts and acne. At that moment the gyno only gave me contraceptive pills.

In 2013 another gyno started giving me also metformin 2x500mg. Also because all these years my cholesterol and triglicerides were always high even though I have been vegan and vegetarian for over 7 years.

In 2010 I fractured one ankle and in 2014 I fractured the other ankle and Ive had multiple surgeries to try to fix that. Ive had continuous weight gain all these years even though I watch my diet and I exercise all the time.

I recently asked my GP to test for cortisol, also because now I’ve been almost a year without any libido. It turned out that my AM cortisol was high, and she repeated it a month later and it came out even higher. Now she referred me to an endocrinologist.

I have the appointment with the endocrinologist in three weeks. Im very nervous about this appointment, and I really just want to figure out what is wrong with my body. Wish me luck 🙂

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