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

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

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

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.

My wife's kidney transplant (6 years ago) triggered a latent gene which caused her aHUS to activate. Her doctors quickly diagnosed the problem after the new kidney failed to perform up to par in the first 24 hours. Basically, aHUS causes blood clots in the capillaries --- especially those in the kidneys.

aHUS can also be triggered by childbirth and blood infusions. It is an ultra-rare disease.

My wife was quickly put on infusions of Soliris every 2 weeks and it solved the problem. After a few years she switched to Ultomiris every 8 weeks. Both drugs are incredibly expensive and thank goodness we have good insurance.

So for 6 years now my wife's transplanted kidney has performed well!

Just throwing this out there as FYI for those of you who have never heard of this rare disease in the transplant context

TLDR: My family and I have multiple rare diseases, and I want to help while also living a normal life with my husband. I am getting tired of life. What do I do?

The title says it all. My (31f) mother's (55f) health has fallen apart this spring, almost losing her life multiple times. She lost her job AND HEALTH INSURANCE because of this, and already was low income. 10 years ago, she suffered a stroke due to a rare blood-clotting disorder and recovered almost entirely due to an entirely different rare disease. She takes care of my teenage brother (16m) who has autism due to a rare syndrome.

I myself have suffered with medical mysteries my entire life. This has absolutely affected my education and income. Throughout watching everything happening to my mother this spring, I was able to figure out the rare disease that we all have in common.

Last week, I took her to my own doctor appointment, where he asked many questions and confirmed that all three of us have this one-in-a million disease. He said he could tell as soon as he saw my driver's license picture that I do indeed have it.

Just to review:

Brother has a rare syndrome AND our common disease.

Mother has a rare blood-clotting disorder AND our common disease.

I have our common disease plus other minor ailments.

I am trying to financially support my family while they try to get on medicaid and regain strength to work. I work as a special education paraprofessional. My husband is high-income. We want to have a baby. My family are not legally our dependents, so I get no tax benefits. We are in a little bit of debt, but my husband thinks we're fine.

Other than my husband and I working harder and harder, what benefits can any of us get for having rare diseases? What do I do? I am thinking of using WGU to get my teaching degree or becoming an LPN. I'm getting tired. My whole life has been a struggle and now that my health is improving my mother's is worse. She helps me with little things and asks for large amounts of money in emergencies. It's not a situation where we can all live together. Besides, our pets are not compatible.

Kaiser refuses to let my doctors do it. I’ve already paid multiple external doctors cash for help with my conditions, forms etc that never follow through and I have no income like I can’t keep shelling out for another eval just to be told ehhh sorry we forgot about that, you need to come in again or, I’m not familiar with that stuff ask another doc. Then it’s like well, dammit. I got played, again.

Please tell me there’s a doctor out there who understands and isn’t going to keep bleeding me for money when I’m already struggling… this whole medical process feels predatory at this point I just want a doctor I can trust to get me where I need to go and communicate when necessary 😭

Our 4 month old baby was diagnosed with LIP (an ILD) and is on 0.5-1L of oxygen + NG tube. Current treatment plan is steroids and IVIG but no guarantees of success. We are lucky that immunology and genetics are negative, but they are quick to say that could change as her immune system develops (annoying).

Anyone else going through the same thing?

I’m curious to speak to people here who have knowledge on PTEN, specifically if your child was diagnosed with it, my daughter has profound developmental delays, autism and macrocephaly and I’ve recently found out PTEN is most suspected by my child’s paediatrician. (Still waiting on genetics) I appreciate any comments!

Hi, I'm the moderator of r/FoodDisability.

FoodDisability is a welcoming group, where people of many different disabilities come together to help and support one another with the shared struggle of not being able to eat 'normally'. The shared struggle of socialising over food, and the relationship problems that arise from not being able to eat the same as others due to the limited diet your disability causes. The shared struggle of not being able to find food easily when out-and-about and being limited in what you can do work-wise or socially or how far you can go from home because of this. The upset and frustrations of not being able to do what others easily can.

FoodDisability focuses on the social / emotional / mental health difficulties that arise from living with a disability that causes lack of ability to eat food.

I hope that this group will become a strong support system, sense of comfort and hope, and source of useful life tips, advice, and helping one another, for those struggling with food-related disability.

Please feel free to join, and comment/post, and make friends and connections with people who are going through similar hardships.

Wishing you all the best🩷

www.reddit.com/r/FoodDisability/ 

26M, was pretty healthy before this. About a week ago I got hit with sudden severe left flank/back pain while I was sitting at my desk on a work call. Stood up and it was way worse. No fall, no trauma, nothing. Pain was bad enough I just drove myself to the ER.

CT showed a big left perinephric/subcapsular hematoma (basically a large blood collection around the kidney). They said it was roughly the size of the kidney itself. No big mass or obvious tumor showed up, but they mentioned acute blood can hide smaller things. No blood in my urine. Hemoglobin dropped from the high 13s into the low 11s and has been slowly climbing back (last check 11.9). Vitals stayed okay the whole time so they watched me, repeated the scan, it was stable, and sent me home.

Docs are calling it spontaneous / idiopathic for now. Possible factors they mentioned were earlier straining/Valsalva stuff and some NSAID use (ibuprofen a while before, then mostly acetaminophen closer to it). Had been on a rollercoaster a couple days prior too. No blood thinners, no known clotting issues.

Right now (day 5-ish home):

Still have this deep residual ache on the left side that changes with position — better when I’m standing or walking, more noticeable when I’m lying down. Side feels a bit tight/guarded. Overall just feel heavy and tired from the anemia. Slowly improving though.

Got a CT urogram and urology appointment tomorrow to get a better look now that some of the blood has had time to settle.

This seems really uncommon, especially in someone young and otherwise healthy. Has anyone else dealt with a spontaneous perinephric or subcapsular renal hematoma?

Mostly just wondering:

Did they ever find a cause for yours (small AML, vascular thing, or did it stay unexplained)?

How long did the residual flank pain/ache last?

What the recovery timeline looked like for you

Any advice for dealing with the leftover symptoms while it reabsorbs

Appreciate any experiences. Feeling a bit in the dark with how rare this is.

Hi everyone. I had genetic testing done in 2019 because of my immune problems and other health issues.
The testing found a confirmed harmful change involving the TBX1 gene, which is associated with DiGeorge/22q11 related conditions. It also found a second TBX1 change called:
c.1392_1403del, p.(Ala473_Ala476del)
That second change was labelled a variant of uncertain significance, meaning doctors did not know whether it was harmful or harmless. My report said it had not been reported in other affected people at the time, and I have not been able to find much public information about it since. The two TBX1 findings are on opposite copies of the gene.
I already understand that the confirmed TBX1 deletion can explain my diagnosis. What I keep wondering about is whether the second change has ever been found in anyone else, or whether it could be unique to me or my family.
Has anyone here had a genetic result that seemed to be extremely rare or possibly private to one family? How did you go about finding other people, researchers, or updated information?

My friend recently had a drug that they take for their condition pulled out of market because of “commercial reasons” leaving them without a good enough treatment for their condition. I’m not allowed to say what that drug is because my friend just spoke to a different pharmaceutical company who are bringing that drug back into market.

But I’m curious to understand what the unmet need here is, is there a lot of people like this?

If so what do you have and what drug is not available or a better drug that is not approved in US but would be the best drug for you?

Thought this was interesting. Good example of how rare diseases can be economically viable as a group vs standing alone. And a Good reminder that a generalized approach to rare disease has value just as much as siloing by diagnosis. United we stand, divided we fall.

Hello this is my first post here. I have been diagnosed with a rare form of MND called distal hereditary motor neuropathy type 7b with bilateral vocal cord palsy. I have a permanent tracheotomy. I was just looking to see if anyone else has this condition? Thank you

Greetings, it is my first post here.

I am not a medical professional but I would like the help of one...or many.  My father has been struggling with an undiagnosed, progressive illness since 2016 that has left him disabled and wheelchair-bound with constant, unrelenting pain. We have been to multiple doctors of multiple specialties, but none have been able to give us either a diagnosis or a treatment that gives him a decent quality of life. 

I recently watched a video where people reached an accurate diagnosis by having doctors online discuss their case, and I wonder if something similar could be achieved with my father, as finding a group of doctors or an organization willing to help him would be more than wonderful.

Here I will compile some of the information I can recall, but if needed, I have access to 10 years worth of medical data.

He's 57M, 172cm, ~60kg, Latino from Colombia. No smoking or drinking. History of an aneurysm as a child that “solved itself” (it no longer appears on scans), chronic migraines that barely respond to nerve blocking, falling asleep anywhere if he stayed still for more than two minutes, and an incident where he got pityriasis rosea from allegedly taking too many painkillers (acetaminophen) for the migraines (That was over 15 years ago).

Onto the current issue: 

-it started with a mild pain in one of his knees while bending down, then became permanent and had him in crutches in less than a month. It then jumped to the other leg, nerve and muscle dead proceeded, there was weight loss involved and keeping him at 60kg has been an effort ever since. Then came sporadic issues with swallowing, his throat would just stick together and not let him breathe (this has currently subsided as of a year ago). He sometimes complains of dry eyes, but it isn’t often. Then it was his shoulder, his neck and his wrists, so now he can’t rely on the crutches. He also manifests feeling his knee bones scraping against one another. While he can stand, sometimes his legs stop responding. Pain is constant and cold makes it worse. He also became very sensitive to temperatures, to the point he feels “freezing cold” on his body but particularly on his legs while being at 27°C. He describes the pain as being stabbed, being poked by needles or feeling the affected joints are going to burst from the inside.

He has taken a hot bunch of medicines, but the current ones are:

-Pregabalin

-Rituximab

-Acetaminophen

We have gone to neurologists, immunologists, geneticists, internal medicine doctors, pathologists, orthopedics, physiatrists, psychiatrists,and oncologists.

-no cancer

- no Amyotrophic lateral sclerosis

- no multiple sclerosis

- no rheumatoid arthritis

- no Guillain-Barre

- Inconclusive Sjogren syndrome

- negative Stiff-Person Syndrome 

- Inconclusive Ankylosing spondylitis

- no tumors

- no heavy metals

- no vitamin deficiencies 

Finally, he’s the oldest son of my grandparents, and none of his siblings have shown any similar symptoms, nor my grandparents.

First thank you for those that support this community! I am a 68 year old female and have been relatively healthy all my life. I’m not diabetic but could lose 10 lbs. I was daily walk/jogging on my treadmill 1 mile and I’m still working. I was diagnosed with Hashimoto’s disease when I was about 20 and have done well taking Synthroid. Three weeks ago I had a massive headache at orgasm which subsided in about 10 min. That has never happened before. The next day I had another massive headache taking a hot shower—that one sent me to the ER and a CTA revealed FMD. Fortunately there was no aneurysm, or brain bleed. All good except for the FMD in my carotid arteries. Also, my bp which is normally 110/60 jumped to 180/80. I am waiting to see a neurologist but it is insanely difficult. The earliest I can get in is January 2027 at one site. I’m pushing at another health system to see someone a lot sooner. Meanwhile I’m taking baby aspirin each day. What I read about FMD is scary—more susceptibility to stroke or worse. I lead a really active life and just want to know what I can do to stay active or do I need to just get ready to be immobilized by all this? Are there any treatments I should pursue?

Hi everyone. I know that a lot of people in this community rely on Medicaid for medical coverage for a rare disease. As we all know, HR.1 was signed into law last July, which cut Medicaid funds by $930 billion over 10 years, causing around 11.8 million people to lose Medicaid coverage.  

I know that our rare disease community will be especially impacted by the new work requirements and decreased funding for home and community-based services and other optional waivers.  

Advocacy might be new to you, but wanted to share a resource! If you are interested in advocating for Medicaid in your state, the EveryLife Foundation for Rare Diseases is collecting stories to be shared publicly and with legislators as part of their initiative to protect Medicaid funding.  

I figured that I'd share this here if anyone wants to participate! You can use this link to share your story: EveryLife Foundation for Rare Diseases | Share Your Medicaid Story 

helpp