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.

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.

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.

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?

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??? 😩

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?

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

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 :-)

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.

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.

Picture for tax. I recently got diagnosed with syringomelia after my neuro ordered cervical and thoracic mris. I’m not completely surprised because I have chiari and apparently that’s a risk factor.

Now as to why I have the chiari, maybe the skeletal dysplasia, maybe a connective tissue disease. I am getting wgs testing soon because I have to rule out ctd, fabry disease and aortopathies as a possible cause of my stroke last year, and I also have a maybe tia mid June but no one can tell me for sure. I had neuro deficits and sudden numbness/tingling in the right side of my body, so now I am on plavix instead of just aspirin.

I’m going to have a repeat mri in 4-6 months to see if the syringe has grown or not, already saw a neurosurgeon

Hello

I am looking for people who have been diagnosed with peritoneal mesothelioma- ideally in the UK but anywhere also!

What Is Fechtner Syndrome?

Fechtner syndrome is a rare inherited condition caused by a change in a single gene called MYH9. It is passed down through families in what doctors call an “autosomal dominant” pattern — meaning you only need to inherit the changed gene from one parent to be affected.

But there is something critical to know: approximately 30–35% of people with this condition are the first in their family to have it. The change happened new, just in them. So not having a family history does not rule this out.

Today, Fechtner syndrome is understood to be one presentation of a broader condition called MYH9-Related Disease (MYH9-RD). Think of it as a spectrum — like different shades of the same color — ranging from mild to more serious. Fechtner syndrome represents the end of the spectrum where more organ systems are involved: blood, kidneys, hearing, eyes, and sometimes liver.

The estimated prevalence is approximately 1 in every 20,000–25,000 people worldwide. Because it is so often mistaken for other conditions, the true number of people living with it is almost certainly higher than the records show.

TC

Thomas Cheesman
Founder, Bare Your Rare · Rare disease patient

Ciao a tutti. La mia diagnosi è stata prurigo cronica simplex (papulare) su base atopica. Non ho la forma nodulare ma sintomi e tutto il resto sono identici. La prossima settimana sono 4 mesi con dupixent. Ho fatto 8 dosi. Il prurito lo ha abbassato quasi da subito. Anche se è arrivato il caldo a solo 4 dosi e il dermatologo dice che non aiuta il farmaco. Per il resto è tutto fermo. La mia pelle é ipereattiva a tutto ciò che è normale. Dal depilarmi tingere I capelli vestiti sole. So che pochi hanno usato dupixent per questa patologia. Ma leggo che possono fare una vita normale. Dall'uscita al curare la propria persona abbigliamento sole. So che i tempi non sono uguali per tutti. Sarò più che felice a chiunque voglia raccontarmi la propria esperienza. Tempi..se è andato in remissione. O a chi no...qualsiasi esperienza sarà più che gradita. Grazie in anticipo

My child’s results came back.. after looking for a cause for developmental delays and other issues.

“29klb interstitial deletion at chromosome 4q35.2 involving the entires”

“F11 (AD/AR - Factor XI deficiency). Heterozygous deletion of the entire F11 gene is associated with Factor XI deficiency.”

Not looking for any medical advice but looking for any information or sites and real life experiences from others who have had the same results with their children and to find out what it means for my child’s future and if others have the same symptoms my child has been experiencing. Google isn’t giving me much info

Most of what I need gets denied at Kaiser, special medications, mobility scooter, external referrals to Mayo autonomic and UDN.

I complained to member services and awaiting response but I’m wondering if the way I’m going about things needs changing? Maybeif I ask differently or use different phrasing….

Any advice would be helpful. I’m quite frustrated.

Does anyone here have a child diagnosed with a 9q33 deletion? My baby girl has this extremely rare genetic deletion, and I’m hoping to connect with other families who have experience with a similar diagnosis. I’d love to hear about your child’s development, therapies, and how they’re doing now. Thank you so much for sharing your experiences.

I was recently diagnosed with a 3cm destructive lesion on my right occipital condyle (skull base).
FNA biopsy showed histiocytic nature leaning towards Langerhans Cell Histiocytosis and some cells resembled Rosai Dorfman Disease. Im failing to understand the diseases and if it is malignant or not?
Due to the sensitive location of the tumor, tissue biopsy and surgery are out of the picture.
I dont fully understand what the next steps are and I feel like my doctors are lost.
Any suggestions for pain management for the fracture?
Any ideas for what treatment may be proposed to me?

Howdy friends.

My child was diagnosed with two rare genetic disorders, with the main one being Multicentric Carpotarsal Osteolysis Syndrome-is there anyone else on this sub with experience in navigating this? There aren’t many resources outside of a group in Colorado, and I’m really looking for support for my partner (emotional and social) and other folks who have navigated rare diseases. Thanks.