r/rarediseases

Hi everyone,
I’m reaching out from Turkey because my family is going through an incredibly difficult time.

My grandmother was diagnosed with stage IV lymphoma. After receiving chemotherapy, she developed Stevens-Johnson Syndrome (SJS/TEN), which we were told is an extremely rare and serious reaction. She is currently in the hospital, and we are all very worried.

I’m trying to connect with anyone who has personally experienced SJS/TEN, or whose family member has gone through it, especially if it happened during cancer treatment or chemotherapy.

If you’ve been through something similar, I would be incredibly grateful if you could share your experience. I’d like to know how your recovery went, what treatments helped, whether your eyes were affected, and if there’s anything you wish you had known at the beginning.
Thank you so much for taking the time to read this. I sincerely wish everyone here good health and a full recovery.

Hi everyone,

I'm looking for other parents who may have gone through something similar because lately I've been feeling very alone.

I'm overwhelmed by the lack of answers and keep finding myself endlessly Googling everything.

My son is 22 months old and has several medical conditions. He has hypotonia, severe hydronephrosis (he's scheduled for kidney surgery next week), had surgery for an undescended testicle when he was one year old, and also has hemihypotrophy/hemihypertrophy affecting his left side.

His left leg is shorter, his left foot is smaller, and he has problems with his left hip. Basically, everything on his left side is affected.

Because of the poor public healthcare system in our country, we didn't get the full picture early on. Instead, we've had to piece everything together over time. It all started when he was 11 months old with the hypotonia diagnosis, and the most recent discovery was his kidney problem.

We're currently waiting for the results of genetic testing, as his doctors are trying to determine whether all of these findings could be part of an underlying genetic syndrome.

I'm wondering if anyone has a child with a similar combination of conditions, or if these kinds of findings ended up being connected by an underlying diagnosis. We've had various tests done, but we're still searching for answers.

I'd really appreciate hearing from anyone who has gone through something similar, even if your child's situation isn't exactly the same.

Right now, I just feel very alone in all of this...

I’m a 41-year-old female with a progressive illness that multiple specialists, including Mayo Clinic, have not been able to explain. I’m wondering if anyone has experienced a similar combination of symptoms or eventually received a diagnosis.
I had mild depersonalization/derealization years ago related to anxiety, but it was nothing like this. After my hysterectomy in 2023 (ovaries were left), everything changed. These symptoms have been constant since they started and continue to worsen.

My symptoms include:
Severe depersonalization/derealization
Barely recognizing myself in the mirror
My children, husband, home, and even cities I’ve lived in no longer feel familiar, even though I logically know who they are
Emotional numbness (although I can still cry)
Constant confusion and brain fog
Racing thoughts, intrusive thoughts, and intrusive images
Difficulty thinking clearly, processing information, and carrying on conversations
Short-term memory decline
Frequent jamais vu
Dizziness (often feels like I’m on a boat)
Eye floaters and visual disturbances
Episodes of waking with my heart racing
Frequent urination/urinary urgency
Significant gastrointestinal problems, including eosinophilic gastrointestinal disease
Oral Allergy Syndrome
Unintentional 25-pound weight loss over the past year

One of the strangest parts is that I’ve become extremely sensitive to medications and supplements.

I took Prozac for over 20 years with no problems. Since 2023, SSRIs have caused auditory hallucinations. Even medications like Advil or common supplements can make my dissociation dramatically worse, or I have what seem to be paradoxical reactions where medications do the opposite of what they’re expected to do. Because of this, it’s become incredibly difficult to find anything I can tolerate.

I’ve had an extensive workup, including Mayo Clinic. Brain MRIs show stable white matter lesions. An early EEG showed bihemispheric slowing, although a later prolonged EEG was normal. Neuropsychological testing showed a mild neurocognitive disorder. My lumbar puncture, autoimmune encephalitis antibody testing, sleep study, MCAS testing, and genetics evaluation have not provided an explanation.

My neurologists are confused because my symptoms continue to progress despite extensive testing.

I’m not asking anyone to diagnose me. I’m simply wondering if anyone has experienced a similar combination of neurological, cognitive, visual, autonomic, gastrointestinal, and medication sensitivity symptoms, and if so, what the eventual diagnosis was or what helped.

I honestly feel like I’m slowly losing myself, and I’m hoping someone out there recognizes this pattern.

23 days ago, my father suddenly developed unbearable abdominal pain in the early morning and was rushed to the hospital. After examinations, doctors found that his spleen had ruptured.
He underwent emergency splenectomy, and thankfully, he survived the surgery. At that time, our whole family finally felt relieved.
However, the pathology results brought devastating news. The tumor that caused the splenic rupture, along with suspicious lesions found in his liver, were examined and confirmed to be splenic angiosarcoma with liver metastasis.
This is an extremely rare disease, and primary angiosarcoma occurring in the spleen is even rarer. From the information we have found, this disease is very difficult to cure.
The doctors advised me not to tell my father how serious this disease can be because they worry the news may emotionally destroy him. Right now, he is recovering and his physical condition is still good, but for our family, it feels like there is a time bomb that could go off at any moment.
We are about to start chemotherapy, and I am honestly very scared.
I would be incredibly grateful if anyone who has experienced a similar diagnosis, family members of patients, or medical professionals with experience in angiosarcoma could share their stories, advice, or information about treatment options.
Thank you so much for reading.

My husband was diagnosed with an extremely rare and potentially disfiguring disease earlier this spring. Disease can be put into remission, but no cure. We are awaiting treatment orders and he has to stay away from crowds, due to a very low white blood cell count.

We are in our late 40s, raising two teenagers with their own challenges, working jobs from home, etc.

Husband does not want to tell anyone about diagnosis. We have told our parents and our kids know a version. He says he doesn't care what others think (and I agree!).

Husband is an introvert and would be likely be content with our family as company for the rest of our lives. By contrast, I need my family, friends, volunteer work, church, and other communities.

I am doing my very best to lean on our parents and my new therapist. I have told a few of my closest most trustworthy friends that he is going through a rare diagnosis, but no specifics. That has helped me, but I know even that is crossing the line of his wishes (and I feel guilty about that).

This is his journey, and I want to respect his wishes. I also know that his stance on telling others might have to change based on what treatment road he goes down.

Receiving a terrifying diagnosis at youngish age is already a lonely process, and I'm struggling with how I'm going to keep proceeding through life (wife, mother, friend) and supporting him through treatment feeling very alone in this.

To keep him healthy in the interim, we've already withdrawn from some of our usual family social situations. I'm continuing to socialize with our kids in certain circumstances. But when you stop reaching out to family friends, without telling them why, they start to forget you.

Any advice on how you navigated this rare disease road sanely? Please be kind. Thank you.

I am a veteran w electrolyte issues. I have muscle fasciculations and bad cramps. It is throughout my body. Any muscle can be affected. Like many others, I can display them as well. I am currently going through the ruling out process- ALS, Parkinson's, and Meneir's all ruled out. The Dr.s are leaning to a CFS diagnosis. I also have vertigo and equilibrium issues and get periodic, nauseating attacks that I sense w an 15 min. aura. Pedialyte has helped keep my cramps at bay. It's been a long road w electrolyte drinks. I have tried them all. Majority are garbage sugar, fake sugar, milligrams of key nutrients. I went from water to Gatorade to Pedilyte to celtic sea salt (currently). I mix the celtic sea salt w bottled water. I am hoping for a genetic marker test and or an antibody test for an autoimmune issue if this isn't diagnosed or resolved. My emg test revealed benign cramps. No nerve damage. There have been a few cases of CFS developing into worse conditions. We all must monitor this for 4-5+ years. I start oxcarbazepine tmrw. Any insight is appreciated. *Pedialyte (unflavored) and celtic sea salt help with my nightly cramps.

Having been diagnosed with kEDS-PLOD1, I've found the journey to be quite isolating. Because our symptoms are so niche compared to the more common Ehlers-Danlos types, it can be hard to find relatable support. I would love to know if there are other users on here living with kEDS-PLOD1 or kEDS-FKBP14.

how do you all constantly explain to doctors your diagnosis who have never heard of it? we just spent 20 minutes of an appointment for a doctor to google (in front of us!) our daughters rare condition. do you have a one-pager that you bring to appointments - if so, is anyone willing to share a template? I’ve tried sending messages to mychart patient portal prior to appointments but I don’t think the doctor looks at them.

any advice here would be greatly appreciated!

Hi everyone. I’m hoping to connect with anyone whose child had a similar combination of symptoms and eventually received a rare genetic or neuromuscular diagnosis.
My 2-year-old has:
Significant proximal muscle weakness.
Walked independently around 12 months but has never crawled or knee-walked and still cannot stand up from the floor without pulling up on furniture or an adult.
Difficulty climbing, squatting and other movements requiring core/hip strength.
Rapid weight gain from infancy and persistent obesity despite a healthy diet.
Mild obstructive sleep apnea, noisy breathing and swallowing/oral motor concerns.
Advanced speech, social skills and cognition for his age.
Mildly elevated CK on one occasion.
Normal chromosomal microarray and normal metabolic screening.
Negative for PWS.
Dialated renal pelvis and reoccurring UTIs
We’re currently seeing genetics and are hoping to proceed with more advanced testing.
Has anyone’s child had a similar combination of motor weakness, hypotonia, obesity and sleep/airway issues? If so, what diagnosis was eventually found, and what test identified it (exome, genome sequencing, neuromuscular panel, etc.)?
I completely understand no one can diagnose him over reddit—I’m just hoping to hear from families whose journey may have looked similar while we continue our investigations.
Thank you ❤️

Hi everyone,
I’m looking for some hope, experiences, or advice from anyone who has been through a similar situation.
Here is my timeline so far:
10w+2d: Had my NIPT blood draw. Fetal fraction came back at 6.9%.
12w+3d: Had my formal 1st trimester anatomy/morfology scan, and everything was absolutely perfect.
12w+4d: Results came back the next day after a long 2-week wait: Positive/High Risk for DiGeorge Syndrome (22q11.2 deletion) with a 1/2 PPV (Positive Predictive Value).
12w+4d (Same day): Panicked and rushed to my OB for an emergency ultrasound. The doctor double-checked and confirmed again that everything looks perfect so far—heart, jaw, and mouth all look completely normal.
12w+6d (Today): Because it’s too early for an amniocentesis, my doctor performed a CVS (Chorionic Villus Sampling) instead to get faster answers.
I know that DiGeorge syndrome is a microdeletion, and NIPT has a notoriously high false-positive rate for microdeletions compared to common trisomies. I am holding onto the two clear ultrasounds as a very good sign.
For those of you who had a high-risk NIPT for DiGeorge but went on to get a negative/normal CVS result:

1. Did you trust the CVS 100% and stop testing?
2. Or did you still feel the need to do an amniocentesis later on in the second trimester to be absolutely sure? (Since CVS tests the placenta and amniocentesis tests the baby directly).
   I am spiraling while waiting for these CVS microarray results. Any stories, insights, or comforting words would mean the world to me right now. Thank you

My 8-year-old son, Henrik, is living with one of the world’s rarest genetic metabolic disorders: Cobalamin F Deficiency (cblF).

He survived cardiac arrest at birth, a collapsed lung, and spent four months in intensive care before doctors finally discovered what was wrong.

I’ve learned that almost nobody has ever heard of this disease, and that’s one of the reasons I wanted to share Henrik’s story. Raising awareness is incredibly important to us because every bit of knowledge about rare diseases has the potential to help families in the future.

If anyone is interested, I’d be happy to share Henrik’s full story and answer any questions about his condition or our journey as a family.

Thank you for taking the time to read this. ❤️

Are there any people here who have an undiagnosed genetic condition? For instance, a disease that has manifested in several family members—suggesting a genetic cause—but remains unidentified, with no mutations detected.

Let me preface by saying I cannot move at this time and my resources are extremely limited due to being on SSDI and relying on my domestic partner's employer to mainly cover rent and decent healthcare costs where we live. Also, I cannot drive anymore, and flying requires multiple surgeries which I can't have, so travel is out of the question.

I had a very bad doctor who was very violent with me and technically committed malpractice multiple times but didn't have any other options where I lived for one of my rare diseases. He formally terminated our relationship last year when I refused a treatment I did not need that he had administered once before that had sent me into shock. My domestic partner was there, and when this doctor kept threatening me my partner stood up for me while the doc was screaming at me and told him to stop screaming at me and trying to bully me into doing something that will do me harm, and reminded him that when a woman says No she means No. This doctor is a hematologist/oncologist and their practice name dropped the hematology from the name and it is now this massive footprint where I live, and got bought by McKesson.

There hadn't been other hematologists in the area for adults anyway aside from the HTC I had originally been going to where my doctor happened to be the director and administrator of the hospital's dept. and ghosted me for 2 years worth of appointments, and teaches all the up and comers going into the HTC and the hospital anyway. However, now that McKesson owns the other major place with hematologists/oncologists/infusion centers that can access chest ports/picc lines etc. they bought out all the other private practices as well as corporations so now they're all under the same company as 'the terminator', and on top of that, every single hospital including the one with the HTC, is outsourcing their hematology, oncology, and infusion services to their company as well. The doctor also now has privileges at every single hospital where I could go. Anywhere I could possibly get my port accessed, he has access. I can't get in to see a gynecologic oncologist because I'd need one with privileges at a level 1 trauma center for the multiple rare diseases and he has access to all of those, on top of that all the gynecologic oncologists are now employed by his company and I'm a terminated patient.

I realize how insane this sounds. It is not lost on me that I sound like I'm having some sort of paranoid delusional psychotic break or something. However I assure you I am not. And this doctor is malicious and protected and there is no point in doing anything to try and fight him as it only causes retaliation and I'm already screwed. However now that he's gotten even Federal credentials and it's so much cheaper for all the hospitals to outsource to McKesson operating as this group I am beyond screwed. We can't move without my partner having a new job and health insurance ready to go, can't do telehealth unless it is within the state due to the laws here, can't fly without surgeries, can't have the surgeries due to the situation I'm in, can't drive due to my health problems and even being a passenger in a very comfy new car with my current combination of BS after just a 25 mile drive to and from a short talking appt. is causing enough pain to apparently make me grab my abdomen and moan and black out unconscious from pain.

Even if I could set up telehealth with a doc in a different part of the state they insist I see them physically once, which I can't do at present even if insurance would let me due to an exception due to inability to travel. We already tried finding out of state physicians licensed to work in my state as well and that was a no-go even using special services who search for that specifically - they don't exist, and the advice both myself and my complex case nurse manager were given was to contact this rare disease research dept. in Indiana to see if anyone wanted to get a temporary license to practice here or something to do a single telehealth visit which doesn't help much since I already know my list of problems needing solving not getting touched.

So yeah. I'm terrified. I'm stuck. My partner feels horrible. I'm in a ton of pain. And my good doctors can't even get anything done anymore, and even if I was rich and had the money for concierge medicine or cash-pay docs it wouldn't matter because of the level 1 trauma center requirements for my conditions. I think I'm losing my mind...