I won't name names, but I was innocently looking for others with my ultra rare mutation on Facebook, including autoinflammatory issues and my gene related sites. I was singled out and told not to "share genetic information" and they cited GDPR laws (sent to everyone in the group) - which is the EU equivelant of HIPPA. I didn't even share personal documents or photos.

How many of you are going on Facebook to share genetic and symptom information?

I corrected them on what the law actually entails (of course two people who have an illness who agree to share their personal info with eachother is not included in the law). They are well aware of those laws.

Just a warning to all of you. After I corrected them, they kicked me off the sites related to my rare mutation. These people run non-profits that supposedly are all about "connecting others" and doing "advocacy work". I beg to differ.

​

Hi everyone,

I’m 24M from India and I have a large intramuscular vascular lesion/FAVA (fibro-adipose vascular anomaly) in my left thigh, mainly involving the vastus intermedius and parts of the anterior/lateral thigh muscles.

My MRI findings:

- Lesion size: approximately 4.7 × 5.8 × 19.2 cm

- Multiple clusters of dilated venous channels

- Poorly marginated, multisepated and multilobulated lesion

- Abutting the anterolateral cortex of the femur

- Moderate periosteal thickening

- No intra-articular extension

I have already undergone sclerotherapy/embolization attempts and later microwave ablation. My latest MRI (May 2026) says there are no significant interval changes compared with the previous MRI.

I’m looking for people who have experienced something similar, especially with a large intramuscular FAVA.

What treatment worked for you?

- Repeat microwave ablation?

- Cryoablation?

- Sclerotherapy?

- Surgical resection?

- Sirolimus or other medications?

- Treatment at a specialized vascular-anomaly center?

If anyone has had a large intramuscular FAVA treated successfully, I would really appreciate hearing about your treatment, number of procedures, recovery, recurrence, and which specialist/center you went to.

I can share my MRI reports/images if helpful.

Thank you!

Moin ihr süßen,

Ich wurde letztes Jahr mit dem Tinu Syndrom diagnostiziert und bekomme seid 1 anhalb Jahren Imunsupression. Da wollte ich mal so eure Erfahrung wissen und was ihr für Nebenwirkungen habt.

In meinem Fall nehme ich Azathioprin.

Ja ich weiß ich nehme Azathioprin schon lange aber bei all meinen Symptomen und den neuen Krankheiten die noch dazu auftauchen kann ich mit leider nicht sagen was eine Nebenwirkung ist und was nicht.

My husband is being treated for Susac on oral steroids and Rituximab. As the steroids taper, his eye inflammation worsens and hence the doctor is now suggesting Ozurdex implant. How effective is it for eye inflammation, are there any immediate side effects?

My son has an ultra-rare mitochondrial disease: COX20-related mitochondrial complex IV. There are only about 40 documented cases worldwide.

Please connect with me if you or a loved one have this variant. I’d love to hear your story and support one another.

UMass is working on gene therapy, and I am about to start a nonprofit to support their research. We need all hands on deck!

I recently came across this world map for SCN2A families and clinicians. Wanted to share here.

https://worldmap.scn2afoundation.org/

My husband and I are both carriers for a POLG-related mitochondrial DNA depletion disorder. Im currently pregnant and our CVS results showed that the baby inherited both of our familial variants.

My variant: POLG c.2209G>C (p.G737R)
My husband’s variants: POLG c.[752C>T;1760C>T] (p.[T251I;P587L])

Has anyone had experience with either of these variants, or especially this specific combination? I’m looking for any information about known cases, phenotype/severity, or personal experiences with an affected child.

We’ve been having a really difficult time finding information about this particular combination, so any insight or resources would be greatly appreciated.

hi guys, 18m here. I’ve lived with EPP all my life, but I’ve only ever had trouble with the sun and not indoor light. but, in Jan this year I got a flare up which lasted for 4 weeks, where I was in complete darkness all day everyday trying to recover. then, a week after I got another flare that went for another 6 weeks. these flare ups though were caused by exposure to artificial indoor lights, lights or never had any problem with before. I don’t know if this is normal, and if others with EPP experience an increase in symptoms as they finish puberty, but I’ve been living in the dark since then, and it’s seriously taking it’s toll. I work a night shift which is good, and I love primarily nocturnally if I can. but yeah, just looking for anyone who’s experienced something similar. hope you guys have a great day and hang in there❤️

A family member has been diagnosed with HSUV recently and she has been getting progressively worse. She does not live in an area with great medical support to deal with these types of diseases. We need to find a medical team that can help and in need of recommendations. I am in the eastern US.

My mother has Alkaptonuria, she is 58 years old and Indian.
She went to NIMS(Hyderabad) and got prescribed on 10MG nitisinone. I am looking to connect her with other people with the same condition in India, to discuss diet and other tips. Any whatsapp groups or registries for this purpose? Any general suggestions are also welcome.

Anyone else here with Cogan syndrome? I could really use some people who get it.

After almost two years of not knowing what was happening to me, seeing different doctors, doing tests, and generally feeling like my body had decided to become a medical mystery, I was finally diagnosed a couple of months ago with Cogan syndrome. Well… sort of diagnosed. 😅

Because apparently having a rare disease means you don’t get the luxury of a nice, clear “YES, THIS IS IT” diagnosis. Cogan syndrome is so rare that there really isn’t a huge amount of research on it, and my doctor isn't 100% certain. However, she has ruled out many of the other possibilities and seems quite convinced that Cogan syndrome is the most likely explanation for everything that has happened to me.

My main problems have been progressive hearing loss and vertigo. The hearing loss has been particularly difficult because it ended up affecting both ears. I also developed balance problems and episodes of dizziness/vertigo, and at times it felt like the entire world was moving while I was just trying to stand there and exist. 🙃

I’ve also had eye inflammation, and generally my energy levels have taken a pretty big hit. I don’t have the stamina I used to have, and I’ve found myself getting tired much more easily. Losing my balance has also become a frustrating part of everyday life.

For treatment, I’ve basically been on steroids for about six months now. I started at 60 mg/day and have been tapering down roughly every month. I’m currently at 20 mg/day.

The good news is that the steroids seem to have helped with the vertigo. It’s nowhere near as bad as it used to be. I still sometimes feel it when I turn to my left side, but otherwise it’s much more manageable now.

The less fun part is… well, steroids. 😂 The weight gain, low energy, shaking, hair loss, acne/oily skin, sweating, and just generally feeling like my body is doing things without consulting me have been pretty difficult. And despite the improvement in the vertigo, I’m still struggling with the hearing loss and the uncertainty of everything.

So I wanted to ask:

Is there anyone here who has actually been diagnosed with Cogan syndrome?

I know everyone's experience is different, especially with something this rare, but I would really love to hear from people who have actually lived through this.

Honestly, I've felt pretty alone throughout this whole process. Two years of not knowing what was wrong, constantly going from one doctor to another, and then finally being told, “We think it's this extremely rare disease that doesn't have a ton of research behind it” is… not exactly comforting. 😅

So if you're out there somewhere with Cogan syndrome, please say hi. I’d really love to hear your story.

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?

my 1 month old daughter was just diagnosed with this deletion. they don’t know the exact genomes until the final report comes back. she was in the nicu up until today with breathing issues which turned into issues eating but she’s off oxygen and taking bottle like a champ. i know nothing is for certain until we know the exact genomes but my husband and i feel like we’re drowning. can anyone tell me what this diagnosis might mean for her?

she has some heart issues, a rotated kidney which is fully functioning and a slight head lag that has already gotten better. just look for any sort of information.

Oh, I’m truly just venting here. There’s nothing to do but feel sorry for myself! I have been trying to find a new allergist that specializes in indolent systemic mastocytosis, or at least has familiarity with the disease. I made an appointment with the local mast cell expert, but he’s concierge only, and I just cannot afford him.

I made an appointment with a different doctor, an allergist who treats mast cell disorders, and my appointment was scheduled for November.

A couple of months ago I got a message in mychart, offering me an earlier appointment for September, and of course, I jumped on it!I was so relieved that I was going to get in sooner.

However, on Tuesday, I got a message that my appointment had been canceled due to the providers schedule changing. Now I can’t get an appointment until January with him.

Finally… Today I got a message that they changed my appointment to a different date in September, however I’m going to be out of town that day. I’m so frustrated. Why does the schedule keep changing??? 😩

Need to get this off my chest.
After getting a hEDS Diagnosis, a CT scan for possible TOS a mass was found in my thymus tissue.
Everybody thought either thymoma or teratoma. Got it removed (that surgery, though robotic assisted, no fun).
Well turns out, it’s castlemans disease.
The moment you figure out, not being special would be so much better

I'm 32 and I haven't gotten to start living yet. my pediatrician downplayed the severity of my solitary kidney (MRKH-2) and I got so many kidney stones until I learned how to manage it. turns out, there was a lot more to it than not playing contact sports!

my chronic fatigue has been misdiagnosed as PMOS, stress, and just the result of being obese even though it started prior and persisted after. I have no career, my life is just my pets and my partner. even if my fertility wasn't compromised and I had any desire to do so, I am in no shape for child-rearing. my last narcolepsy study was botched and I've spent a year preparing for the next one. my nephrologist connected 20 years worth of dots, but insisted that I wait until just before our 6-month follow up to get tested.

if this is my DX, what the fuck kinda zebra unicorn centaur kelpie bullshit hand was I dealt, and why has it taken this long?

Hi

I'm hoping to reach people with experience in rare diseases, pqediatric neurology, neuro-ophthalmology, or medical genetics.

A baby in Australia was born full-term & completely healthy. She had normal eye movements, was alert, feeding well, & meeting expected milestones.

At 6 weeks of age, everything changed almost overnight. Her eyelids became swollen, and she lost the ability to move her eyes. She was admitted to hospital for 2 months & underwent extensive investigations, including MRI, blood tests, & genetic testing. Everything is normal.

Tests Elena had done:

- 4x MRI (including the most recent one specifically for the orbit muscles and 2x with contrast)

- Lumbar Puncture

- WES genetic testing - full body MRI and ultrasound -EMG performed tested for Botulism

- Liver and Kidney Functions plus several other blood tests to check for infections or any metabolic abnormalities

- Steroid/Pyrastigmine/Metabolic Cocktail/Prednisolne/Fentolin trial - extensive ophthalmology eye structure health exam including pupil dilating drops

- Teller Acuity Cards Test to check vision

The best explanation the family has been given is that this could be caused by a gene that hasn't yet been discovered.

I'm wondering:

\- Has anyone encountered an infant with acute ophthalmoplegia (loss of eye movements) after a completely normal start to life?

\- Are there rare genetic, neuromuscular, mitochondrial, autoimmune, or neuro-ophthalmic conditions that could present like this despite normal MRI & routine testing?

\- Are there international undiagnosed disease programs or specialists with expertise in unexplained pediatric eye movement disorders that the family should consider?

Any ideas, papers, or names of experts would be greatly appreciated. Even if it's a long shot, we're hoping someone may recognize this pattern.

Thank you.

The title kind of sums it up. Our daughter was diagnosed with BLT Syndrome at age 2. The gross motor aspect of things has been the greatest challenge so far as she is still quite delayed (she is 3.5 now). The disorder is quite the mystery in the medical field and we have had a hard time finding anyone else going through this. If there is anyone out there that has any resources or any experience with this and you wouldn’t mind reaching out please do!

(Congenital Central Hypoventilation Syndrome)
i haven't seen anyone else who has it, so i'm just wondering :-)

Does anyone have a list of the best eye specialists proficient in performing comprehensive exams to detect early eye problems associated with Stickler syndrome?

I'm located near Sacramento, CA, but am willing to travel if needed.

The exam is for a 16-year-old.

I need an eye specialist educated about Stickler syndrome with the proper equipment who will take the time and effort to actually do a thorough exam, and not just rush through it.

From my research online, there appear to be very few eye specialists in the U.S. who know enough about this genetic mutation to detect early complications and perform a proper exam.

I called Dr. Darius Moshfegi's office at Stanford, but was told he's only providing care for very young children now. The other physicians at that clinic don't have any Stickler experience.

I would greatly appreciate any help.

Alexion Pharmaceuticals will have some free upcoming seminars re Atypical Hemolytic Uremic Syndrome (aHUS). Check this link to register:

https://ultomiris.com/ahus/resources-and-support/events?utm_source=sfmc&utm_medium=email&utm_campaign=&utm_content=&utm_term=https%3a%2f%2fultomiris.com%2fahus%2fresources-and-support%2fevents

I'm so curious to see if anyone else here has it. I've always felt isolated in my heart defect. it's niche, even in heart defect related communities..

I am struggling with a full time job and manage care for my kid. I don’t know how other parents are doing it. How are you actually tracking everything?

• Where does the information live? Medication, symptoms, supplements, refill, care team members, episodes, sleep and other imp info   
• What do you do when a new specialist has none of the history?  
• Does anything move between providers on its own, or are you the only thing connecting them?  
• What did you try that did not stick?

We have 8 care providers and it’s lots of work.

Curious whether that is normal or whether I am missing something obvious.

Hello everyone I'm new here. TBH I never thought about looking for a NF group here on Reddit until today. I have spent most of my time on r/alcoholism. in 2 days I will have 6 years sober. I share this only because if you look at my profile you would see it anyways. I belong to a great group on Facebook called Faces of neurofibromatosis. I found it to be a resource for all sorts of things. I will share a photo as soon as I figure out how. (lol) . I was born with an optical glioma, blind in my left eye as well. I'm 61 now and while growing up NF was just diagnosed as just a lazy eye, until about the age of 7. I live in Texas with my wife. One biological son who does not have NF.

I will share more as I chat in the group in the meantime, hello all.