r/rarediseases

Any carriers for nonclassic CAH? We did genetic testing and we are told we have a 25% chance of transferring this to a baby. We had genetic counseling. They said it’s the better of the CAH to have and can treat with medications, symptoms present in school age. I have been researching it. I found out my insurance covers 4 cycles of IVF a year and my doctor is finding out about the genetic probe if that is covered, which to my understanding selects to good DNA. I just don’t know if this disease is bad enough to need IVF to prevent? Should we just take our chances? I need advice. Even if insurance covers there would still be plenty of out of pocket that would probably be expensive. Better compared to no coverage but still. I also have low AMH level and my doctor says we shouldn’t wait much longer.

I had a parasite in my brain age 10. I had rheumatic fever age 7, which damaged my heart valves and now I have heart failure because I grew up in neglect and no one got me the meds I needed in childhood to protect my heart from damage. In 2024 I had a stroke, which led to MRI’s which showed a very old and damaged brain for someone my age. Further investigations led to genetic testing, which led to a diagnosis of CADASIL. That means my brain is basically eating itself. In 2025 I also got breast Cancer, just to add to the mix. Following my stroke I am wheelchair bound so accommodating me is always a whole big deal. I’m incontinent so that’s another thing. At 44, I can’t have sex, can’t orgasm, because I can’t feel anything down there because that part of my brain is dead. I’m single. I have to cope alone so I started reaching out to others who might be feeling like me. But then I just got rejected from anywhere I tried to tell my story or empathise with anyone going through the same. People just don’t know what to do with me and I don’t fit anywhere. Story of my life. I have two beautiful kids who don’t live with me because I can’t look after them, but they visit once a month and I always look forward to that weekend, so I’m not at killing myself stage yet, but living like this is shit. I kind of had a boyfriend on Reddit once. We were talking for about a month and then I found out he was married. So yeah I’m just posting to see if maybe I can fit somewhere. I’m always a square peg in a round hole. I’m a mum, but I’m not a mum. I’m neuro, but I’m also heart. I’m cancer but I’m also everything fucking thing else. If I don’t fit here either that’s okay. Feel free to tell me to move along, as one of your lovely mods have already told me to do.

Today I was seeking treatment at UC health as i always do , They informed me that the hemo team has dropped me as a patient. Due to the fact that I owe so much money and there is no cure or a healthy treatment plan. Scared to seek help at another hospital because I’ve been misdiagnosed tri health in the past . I’m at a complete loss. I’m being to think there’s nothing I can do !

My 6-year-old son was recently diagnosed with Anti-MDA5 positive Juvenile Dermatomyositis with ILD (lung involvement) and we are honestly overwhelmed and looking for experiences/advice from anyone who has dealt with similar cases.

Current findings:

Anti-MDA5 strongly positive

Ro52 positive

HRCT showing ILD with:

Organizing Pneumonia (OP) pattern

possible NSIP pattern

progressing upper lobe involvement

Recent complication:

pneumomediastinum (air leakage)

possible small pneumothorax

Currently admitted in hospital and on high-pressure oxygen support

Symptoms/history:

Child was surprisingly active and playful until recently

Mild cough (especially while speaking loudly)

Oxygen around 94%

No major muscle weakness clinically

Current confusion:

Some doctors wanted immediate aggressive immunosuppression (high-dose steroids/rituximab etc.), while others wanted more evaluation first. Lung biopsy was discussed initially but now most specialists feel diagnosis is already strongly supported by antibodies + CT pattern.

We have consulted:

Pediatric rheumatologists

Pulmonologists

Thoracic radiology opinion

Currently under treatment locally due to emergency admission, while also planning consultation with Dr. Raju Khubchandani.

Main questions:

Has anyone seen pediatric MDA5 ILD improve significantly with treatment?

How reversible is OP/NSIP inflammatory pattern if treated early?

Any experiences with pneumomediastinum in MDA5 cases?

How long did oxygen dependency last if present?

Any advice for parents navigating this emotionally and medically?

We understand this is a serious condition, but we are trying to stay realistic while also hopeful. Any experiences, insights, or guidance would genuinely help.

I am writing to ask for an opinion on some recent blood tests. Since I was a child, I have suffered from hyperbilirubinemia, but in the latest checks (performed for the first time), low values of copper and ceruloplasmin emerged, associated with a decrease in liver enzymes (LDH and alkaline phosphatase). Furthermore, the complete blood count consistently shows high MCV and low RDW. Since I follow a varied and balanced diet, I would tend to rule out a dietary cause. However, for some time now I have been suffering from severe chronic physical fatigue and brain fog. I would like to ask what this picture could depend on and what further tests or specialist visits (e.g., gastroenterological or hematological) you recommend I do to identify the cause and understand how to solve the problem. Could it be Wilson's Disease?

i am a 20 yo female, and have went through genuine tribal and tribulations to reach to this conclusion.

it all started when i was 12, i woke up randomly one day with really bad chest and back pain. it hurt to breathe and i genuinely thought i was dying or something, but these flare ups would come maybe like twice a year and so i just left it at that.

then when i was 15, it got worse and i was eventually diagnosed with scoliosis after my mom realised that my shoulders were slightly uneven. i thought that this was the cause of my chest/back pain, even tho all the doctors i saw told me that the pain i would get shouldn't be caused by my scoliosis and that i just needed to "strengthen my core" and swim (both important for scoliosis, but still not an answer to the pain i would get). i also had two best friends with scoliosis who would never get the pain that i got even though our degree curves were similar so i was really confused.

these flare ups were accompanied by fever, and would typically last 3 days before going away and everything would return to normal. the flare ups would cause a dull stabbing pain when i would breath and lay on my back. when i was 18 i realized that these flare ups were cyclical and would ALWAYS happen after my period. outside of my flare ups, i would virtually be fine. if i took a really deeeep breath in i would feel a bit of tension on the right side of my back/chest, but it wasn't painful by any means.

then i entered an obsessive research rabbit hole after making the link that these flare ups happened after my period. i thought (for a really long time) that i had thoracic endometriosis, especially because it's commonly found in the upper right back/chest region which is where i get my pain, even tho no one in my family has had endo and my periods themselves were painless with no pain in the pelvic region at all. then i thought that i could have chostocondritis, then a a pulmonary issue, etc. i would do MRIs, chesr scans, x-rays, blood tests - everything signified that i was healthy, just that i had scoliosis and a slightly high CRP.

i came across FMF yesterday and it aligns with all my symptoms perfectly. the fever, the pain lasting a couple days then everything returning to normal, the pain when breathing in, the pain being in my chest/back and sometimes stomach area, it coming after my period, also the fact that i am from the mediterranean region. honestly this might sound crazy but FMF feels like the light at the end of the tunnel. after hearing back from so many doctors for so long that i was perfectly fine, even though i would get extremely painful monthly flare ups for the past 8 years felt so dismissive and like i was going crazy or something. i feel like my scoliosis probably does have an impact, but it was more so like a distraction or a side issue to the pain that i get and not a direct cause.

is anyone in the same boat or actually has been diagnosed with FMF have any advice?

Hello! I’m looking to see if anyone else has similar experiences. I have hEDS, MCAS, narcolepsy, cervical dystonia, headaches/migraines, urticaria, orthostatic intolerance, and was recently diagnosed with nutcracker syndrome.

What’s really concerning to me is I started having seizures in February. Not long after I began having spasms non-stop in my right leg. I take muscle relaxers to sleep. EEG was clear and my neurologist dismissed the ideas of PNES. Last time I went to the ER for a seizure event my potassium and electrolytes were bottomed out and I was essentially locked up (couldn’t move on the gurney for over an hour). Once I could move again it induced seizure like convulsions. I now drink electrolyte drinks daily to prevent that.. but what is happening? I’m unsure if my nutcracker syndrome is causing the leg spasms, or the seizures or what is what anymore.

My blood work flags stuff but not enough for any other solid diagnosis so my Rheum just concludes mixed connective tissue disease. I always have a positive ANA. Ugh.

I know that there’s low IgA, but I haven’t heard of or talked to anyone who, like me, is completely missing it. It’s affected so many things for me, and I just feel like I’m the only person like me sometimes. I’m hoping someone else here can relate (if you have any questions about me having no IgA feel free to ask me in the comments)

Im in a weird area science isn't quite up to speed yet in,it's taken a lifetime just to get some sort of idea of what is happening (Since it's the NHS..)

H-eds, suspected UMN disorder with mito involvement and suspected glycogen storage disease type 9

I have 4/5 and 5/5 strength on initial testing with rapid onset fatigue causing severe hypotonia (A minute on exertion) but with spastic catch still remaining

It's primarily my lower limbs that are severely affected,my upper limbs are mild and I can compensate for that

But I am struggling,I am constantly tensing and untensing all day burning what little energy I have,20 hours a day (we believe I'm not while sleeping)

I have absolutely no clue what avenue to persue in terms of support,I know there's going to be nobody like me but even if anyone with a spastic type syndrome could give advice

I am at a complete loss. My premature son (born at 29weeks) 36 weeks today was just diagnosed with the LARS1 Gene Mutation known as Infantile Liver Failure Syndrome 1. He is 1 of 36 known with this disease and there are basically only 2 peer reviewed research studies done on this disease as the gene was discovered only in 2012.

The limited research symptoms and prognosis is scary and somewhat grim with glimmers of adults having this being still alive and seemingly doing just fine..but the research doesn't explicitly state their quality of life and getting him to grow from now until age 2 is where the most dangerous season lies.

Does anyone know of any resources to help connect to potential others with this disease, like a database? Or how you advocated for yourself or child in regards to reaching out to other providers across the country. We live in MN and I am hoping that because this is so rare, I can convince some genetics doctor to be willing to look at our case but I just do not know where to start. Our team in the NICU have a slight plan but if he doesn't gain weight he will sadly not make it but if we stress his body too much, this gene mutation will cause his body to stop working properly and we have already seen it happen once.

Any ideas or tips would be so appreciated for this stressed out NICU parent - Thank you!

I’m currently almost 25 weeks pregnant. My baby has been misdiagnosed multiple times throughout this pregnancy and I’m desperate for answers.

At 10–12 weeks during my nuchal translucency ultrasound, they noticed my baby was curled tightly in a ball position and thought something was wrong. I was referred to another hospital 1.5 hours away where they first suspected body stalk anomaly. About a month later, they changed the diagnosis and thought it was amniotic band sequence instead.

We then went to Connecticut Children’s Hospital for more testing, including MRI, detailed ultrasound, and fetal echocardiogram. There, doctors told us again they believed she was likely not compatible with life because she remained in a fixed curled position and was not extending her limbs. They said they believed the primary cause was likely genetic, though they also saw amniotic bands that were NOT clearly constricting her body.

I had an amniocentesis done and was told results would take about 2 weeks, but it took over a month. While waiting, I sought another opinion at Boston Children’s Hospital because I wanted definitive answers and wanted every possible chance to save my daughter.

At Boston Children’s, they told us they did NOT think this was classic amniotic band sequence because the bands were not clearly causing the deformities. They described it more like a “shrink wrap” appearance around her body. They were also concerned because my amniotic fluid is extremely low, making it hard for her to practice breathing, and discussed risks to me as well. Again, we were told they did not think she was compatible with life.

At that time, the amniocentesis results were still not back.

This Monday, the genetic counselor finally called with the results. They found two variants in the AEBP1 gene associated with Ehlers-Danlos syndrome, classical-like type 2, an extremely rare recessive connective tissue disorder. They believe one variant came from me and one from my partner. They were able to confirm that one variant came from my partner and assuming one came from me but my DNA mouth swabbed failed due to not having enough DNA in the swab so need to get retested so they can compare me too.

The counselor explained that this condition causes abnormal collagen formation and can lead to severe joint problems, dislocations, weak tissues, poor healing, heart/vessel problems, GI complications, scoliosis, underdeveloped muscles, congenital abnormalities, and even amniotic bands in some cases.

What makes this even more confusing is that they told me there has NEVER been a prenatal case of this specific condition documented before, so nobody seems to know exactly what to expect or whether the findings on ultrasound fully match this diagnosis.

I feel completely lost. I’ve been fighting for my daughter this entire pregnancy and still don’t know whether there is any hope, any treatment, or even anyone in the world with experience in a prenatal case like this.

Has anyone ever heard of anything similar? Rare prenatal Ehlers-Danlos? AEBP1 mutations? Babies fixed in a curled position with low fluid and amniotic-band-like findings? Or does anyone know of specialists/researchers who study extremely rare fetal connective tissue disorders?

I’m just trying to find answers for my baby. And this is incredibly heart breaking for me and my partner. I will attach the file for the specific type of this Ehlers Danlos that the genetic counselor sent me on this specific type my baby has , that a man was diagnosed with so you get more of an idea. I’ll post it once I figure out how to do it.

Any thoughts on what I should do for more information would greatly appreciated. Stay nice as this is a very sensitive topic for me.

7yo female (turning 8) with ongoing unexplained symptoms for ~1 year and I’m trying to work out whether we need to push harder medically or if this still sounds consistent with recurrent viral/inflammatory issues.
History:
2023: suspected EBV/CMV infections (positive past infection testing later), recurrent infections, occasional transient hive-like welts and red patches/rashes that come and go quickly
June 2024: non-blanching rash/petechiae → referred to hematology
Diagnosed with von Willebrand disease
Nightly abdominal pain started around same time
2024–2025:
Ongoing intermittent abdominal pain
Jan 2025: multiple ED visits → diagnosed with mesenteric adenitis, gallstone, then starvation ketosis requiring overnight fluids
Symptoms improved but never fully resolved
Since Feb 2025:
More frequent abdominal pain
Intermittent itching/hives/rashes
Occasional petechiae/bruising
Strong histamine-type reaction when lying in grass (new)
Viral conjunctivitis
Frequent headaches
March:
Mesenteric adenitis confirmed again on ultrasound
Gallstone increased to 5mm and CBD now 4mm
April:
Daily stomach pain + headaches
Petechiae/bruising improved somewhat
Reduced lactose/high-fat foods
Most recent event:
Fainted at school, then vomited multiple times afterward
Pale appearance + swollen lymph nodes again
GP thinks possible viral illness on top of everything else
Bloodwork so far has reportedly been normal.
We are waiting to see a paediatrician, but I’m struggling with whether this sounds like:
recurrent viral/inflammatory issues with bad luck
something immune/allergy related
something we should be escalating harder
Not looking for a diagnosis, just wondering whether anyone in medicine/parents have seen a similar pattern or have suggestions for what types of conditions doctors usually consider with this combination of symptoms.

I had a phone appointment with a genetic counselor today to go over the first of two genetic tests I did - luckily covered by insurance - through JScreen after passing their questionnaires regarding my ethnic background, family and personal health histories, and a few other things. The tests were done through Myriad Genetics: 1) BRCA and Hereditary Cancer Risk Screen (why I wanted to do this in the first place since I couldn't get anyone to do a BRCA test for 5 years of various doctors and myself trying - though this tests for a much larger amount of genes) 2) Women's Health Foresight Carrier Screen.

The call did not go well. The genetic counselor was supposed to be going over the Women's Health Foresight Carrier Screen Results, which picked up multiple rare diseases I already have, a couple things I was unaware of but may or may not be symptomatic for, and missed things that weren't being tested for but also missed things it should have due to not testing the intron mutations, setting the VAF% too high, and various other reasons. That is at least logical though, even if I don't like it.

What isn't, and what makes me want to scream, is having the genetic counselor spend the majority of her time on the phone with me telling me the results don't matter because I'm not planning on having a baby and my age the fact that I had a hysterectomy due to cancer makes the results irrelevant so I shouldn't concern myself with them. This is a WOMAN by the way. People seem to think these attitudes prevail towards male health providers but not in my experience they don't.

I WANT TO SCREAM!!! I AM NOT A FRIGGIN' INCUBATOR!!!

MY GENES are relevant to MY HEALTH. This is not a test meant to rule me out for Eugenics purposes because my genes disqualify me from participating as a Handmaiden being used to help bring about Nietzsche's Ubermensch. GRAAAAH!

Hi all I’m new to the community, 23F college kid in Northern California and was diagnosed fairly recently about 2 1/2 years ago with limb girdle muscular dystrophy except it wasn’t until fairly recent that my muscle biopsy came back more specific ISPD related recessive what is former known as 2U subtype. I just switched to UC and my neuromuscular specialist literally said first visit I “won the worst genetic lottery😃” anyhow she prescribed me some medicine for myasthenia gravis but to be frank my condition is progressing quite aggressively just within a couple years. I’m now barely able to walk upstairs or walk long distances or get up from a bathtub without difficulty. As far as I know, there are also no clinical trials for ISPD recessive, limb girdle. Has anyone found anything to be helpful with this rare sub type? i’ve heard of experimental stuff like sugar protein medicine, WBV benefit, bee venom benefits stuff that drs don’t really care to discuss if it’s not federally approved but I definitely am interested in holistic care. Ultimately, I have little to no familial support, and broke on Medi-Cal and food stamps no money even for college tuition and all for what? To be miserable behind a desk to an inevitable wheelchair in like 10 years time? I do try my hardest to stay appreciative most days for the limited mobility I do have left. I’ve tried everything it seems, my health has become a full-time job, I’m exhausted and it’s not even “that bad“ yet / already at almost full capacity. I think I might reach out to MDA about palliative care + services. If you read this far, thank you and if anyone has any advice or kind words, I’d appreciate it. Take care

This is my first Reddit post, but I can’t find many answers online, and I’m desperate for info. In 2021, I had an enchondroma in my toe that was surgically removed. Before it was discovered, I had chronic pain in the bone of that toe. In 2023, I had the same pain in that toe with the addition of heel spur pain. I saw a new podiatrist (not an enchondroma specialist) who took an x-ray and said it looked good. The tumor was not back. Since then, the pain has been intermittent. Last week I stubbed that same toe, and the pain was incredible. However, this time it wasn’t broken, but the x-ray technician wrote some confusing notes mentioning the possibility of a recurrent enchondroma. They mentioned it being the same as the 2023 x-ray but more pronounced than the 2021 post-op x-ray. I was referred to a specialist for final diagnosis who then ordered an MRI. Unfortunately, I have to wait 2 weeks to have the MRI and the wait is absolutely killing me. I’m embarrassed by how anxious and worried I am, but the recovery from surgery ended up being a completely traumatic experience for a number of reasons. As a single mom, I’m terrified of having to go through that again. It’s been a week and my toe is still very bruised, swollen, and painful, yet it’s not broken. I feel like I’ve been given contrasting information. Has anyone else experienced anything like this? I was under the impression that an enchondroma recurring was extremely rare and could be an indication of cancer. Any information or guidance would be greatly appreciated!

The UDNF has several advocacy initiatives patients can participate in. It sounds to me like anyone rare would be welcome but their focus is more the diagnostic odyssey.

"Community Councils are groups of volunteers making an impact across the UDNF mission – support, engagement, action, fundraising, and innovation. All are welcome to join these councils to add their time, insights, and talents to the UDNF mission. Through the Community Councils, the UDNF will ensure that the organization’s priorities are directly reflective of changing needs in the rare and undiagnosed community and these talented volunteers will enable us to accomplish more together. "

More info and sign up here:

https://udnf.org/about-udnf/community-councils/

I don’t know about you guys but it drives me nuts. The Facebook group for my condition is so small, and people have no idea what they’re talking about sometimes.

For example, it’s been shown that’s trps1 is expressed in certain cancers so people in the group take it to mean they will get cancer. No. I openly share my geneticists notes about TRPS and cancer specifically, because that was a question I had myself given that my uncle died from myelofibrosis after beating lymphoma and leukemia. My geneticist specifically has said germline mutations of the trps1 gene don’t increase your cancer risk.

And then, they spread it as if it’s fact and freak out other people because they don’t understand context and how to interpret clinical journals.

But on top of that they say other things that aren’t true and it is so annoying because I’ll say “clinical journals don’t support what you’re saying” and honestly, a lot of people in the group aren’t medically savvy. Or I’ll say “that’s not true according to my geneticist”. And my geneticist is a director of a bunch of different programs, she’s brilliant and knows what she is talking about. Yesterday someone posted they have a bacterial skin infection and wanted to know if it’s caused by our condition. It’s not. It’s like people try to attribute every little health problem to this one thing when likely, there are other things going on, on top of having TRPS

Hello. I was diagnosed with Necrotizing Sarcoidosis in August of 2023. I'm hoping to find someone (ANYONE) that shares the diagnosis.

My pulmonologist is amazing, but because NSG is so rare, I would like to find someone to compare notes with about treatment.

I'm in a few FB sarcoid groups, but I can't get any of them to let me post. I've tried several times, but nothing I submit is ever accepted.

Thank you in advance!