Good morning,

I very possibly have BRBNS. I would have liked to find people, diagnosed or not, with similarities to discuss. I feel alone and I want to move forward with my diagnosis

Thanks in advance.

Hi everyone! I (F25) don't know how many people here have spine deformities, but I have one that occurs in less than 0.15% of the population.

At first my neurosurgeon and spine PA thought it was a fracture, however it isn't. There isn't a technical condition name, I'm pretty sure there have only ever been between 1,000-1,200 documented cases worldwide.

This is where it gets tricky, the estimated percentage only relies on Type E C1 agenesis. It doesn't take into account that my anterior arch is also split in two.

I have had many random neurological things happen in the past 7 years since I had a car accident that caused 4 way whiplash. Because of this I am attempting to speak with a medical journal so that my case can be recorded for future insight if anyone else has the same anomaly.

Current relevant diagnoses- Complex migraines Dysautonomia Bilateral hoffmans sign Gait Ataxia Degenerative disc disease Osteoporosis Unilateral weakness of upper extremity Radiating nerve pain Seizures with no known cause Syncope/presyncope Cervical muscle spasms "Army neck" Mandibular and Maxillary hypoplasia Eustacean tube dysfunction Central and obstructive sleep apnea Vocal cord MTD

Does anyone have any idea where to begin? I live in the USA. I know it's a long shot, but i really want other people with similar issues to have some sort of example if they find they have the same condition. My mother birthed me in her 40's, thought I was actually menopause and was basically doing extreme dieting and didn't take prenatal vitamins until the second trimester. She also had gestational diabetes for the fourth time.

I've always been gaslit by doctors, so finding this out yesterday was one of the strangest coincidences I've ever experinced- because I was the one who suggested it when I couldn't see the C1 spinous tubal in any of my scans. Multiple radiologists missed it, and it took my spine PA reviewing my scans herself (she used to be a radiologist) to find the deformity. She said she has never seen anything like it in school or personally.

I'm just asking for advice, seeking others with similar deformities, and ultimately maybe venting a little sorry 😅. TIA everyone <3

Hi everyone,

I’m hoping to connect with anyone who has experience with cross-fused renal ectopia, either personally or in their children.

My baby, Dorian, recently had an ultrasound that confirmed cross-fused renal ectopia—both of his kidneys are located on the right side of his abdomen, and the left side has no kidney tissue. The scan also showed that the lower kidney is malrotated. His bladder looks normal, and there’s no sign of hydronephrosis or masses.

The doctors explained that this can be asymptomatic, but they’re doing further tests like a DMSA scan and an ECHO, since this condition can sometimes be associated with reflux, infections, or even cardiac issues.

Thankfully, Dorian is doing well—feeding, gaining weight, and having normal wet nappies. But of course, I’m still worried and would love to hear from others who’ve gone through something similar. • Has anyone else’s baby been diagnosed with this? • Did your child have any complications as they grew? • Any advice for what to expect in terms of follow-up care or long-term outcomes?

Thanks in advance for any insights or support—this is all new to me and I really appreciate hearing from others who’ve been there.

Is your disease stable or do all rare disease patients have bodies that go in 500 directions all at the same time?

My latest imaging is giving me a whole new thing to rule out or in. I keep hoping it'll slow down but new abnormals keep coming. 😬

I have always said the only reason I'm not dead is because my disease is slower than medicine (and fairly incompetent at being lethal so far) but it's neck and neck lately. I need medicine to move faster so maybe I get a minute to do something other than chase care.

Anyway I'm curious how fast/often is your disease adding to dos to the list?

Colchicine and thc

I have been prescribed colchicine but thc is my main pain management and mast cell stabilizer. Anyone taking colchicine and cannabis at the same time?

Hi all!

My son is young and diagnosed with a rare progressive disease.

I am trying to figure out how to financially plan for his future and finding it difficult to wrap my head around.

For context - we have to other children as well. I opened them all accounts to begin investing while they are young to hopefully give them a nice nest egg for the future for school/first house down payment/etc or the opportunity to have money sit and grow long term until retirement.

However, then I thought about him and how these assets could potentially deter him from receiving services he may need in the future such as Medicaid or disability. (He currently has Medicaid based on diagnosis but this will phase out once he is of age.) He receives a life saving medication that is very costly and insurance companies are starting to exclude it from employer plans in other states. I’m very worried about his financial future if this continues to be a trend AND if I were to do something like trying to invest for him but making him lose benefits/services he needs in the future.

Basically, to me it feels like either;

1. He is not allowed to have many assets or high income in order to get needed services.

2. We have to bank on him getting rich enough to afford everything he needs

How do I possibly set him up for success? I know there are ABLE accounts, in which I need to look more into, but I’m not looking for something just for disability related expenses necessarily. Do we just invest under our own names and “gift” him the money? Do we make sure his name is NOT on our house as a beneficiary if we pass away?

It just all seems incredibly confusing and unfair in general, so I’m looking for any insight you may have!

Thanks!

I feel like the whole world is crashing down on me. I am 21 and a junior in college and I am trying so hard to keep up with my academics. I’ve lived my whole life able-bodied and “normal” and in a snap of a finger, nothing is normal anymore. A year ago I discovered I had a tumor in my jaw that deteriorated 90% of my jaw bone. When the biopsy came back it said Ameloblastoma. I had the surgery to remove it and my jaw bone regenerated, which my surgeon said that I am very lucky because he wasn’t expecting it to. However, I have to now go to a research hospital for more testing done.

A few months ago, I was diagnosed with Superior Mesentery Artery syndrome and Nutcracker syndrome after a CT scan and I’m in the works of having surgery for that too. The first surgeon that I was referred by my PCP called adult protective services on me for claiming I have a disorder that is not real.

I just wish I could live a normal life again.

Zellweger syndrome. Anyone diagnosed with?

I received the diagnosis a week ago from my baby. He's only two months old. He's been in the ICU since he was born.

Hey, I’m new to posting on Reddit but this sub has more relevance than any other sub has so I thought it was necessary. My son is 4 months coming into 5 in a couple days and when he was 3 weeks he was born with a rare genetic condition called myotubular myopathy. M1MT affects everything about him from his movements to his eating to his crying/babbling.

With that out the way, I need advice.(Sorry if this turns into a venting session) I love my son with my whole heart. I also spend as much time as possible to bond with him. But I’ve noticed since my son’s diagnosis I’ve been kind of numb I guess you could say. I remember the night he was diagnosed I cried hours and hours and basically cried to God why he didn’t just give it to me and before people correct me I know that’s not how it works I just wasn’t in a good headspace. Regardless, since that night I have kind of not felt much. I don’t have friends in person that can relate to me on this nor do I family. My question is, is this normal, am I being selfish and lastly, am I an asshole for this? I also would like to know if I’m alone in this because it’s almost starting to feel hopeless (context he was just hospitalized for the second time in a months period for not getting enough oxygen) and just general worry over everything else while also feeling numb.

Any advice?

I am writing a section on genetics and inheritance issues for the sub Wiki. I want to make sure I cover questions people may have, so if you have a question about genes or inheritance that you have been wondering about, ask me here and I will try to clarify things for you and make sure I address it in the Wiki if it seems like something more people might want to know about.

Not all rare diseases are genetic, but an estimated 80% of them are. The one I have, Charcot-Marie-Tooth disease, is a simple autosomal (non-sex-chromosome) dominant gene, so it has a very simple inheritance pattern, with children having a 50% chance of inheriting it. I have a biology degree which included a few genetics classes, so I should be able to explain what is going on for inheriting (or not) a wide variety of conditions, as far as science understands it. Not all genetic causes are known, and not all cases are equally severe; there are still many questions science has yet to answer.

So far, I am going to try to address topics of Dominant Gene inheritance, Recessive Inheritance (inherited as two genes), X-Linked Inheritance (inherited on the X chromosome), De Novo Mutation (not inherited, a new mutation), Skipping Generations (a myth or at least an oversimplification and outdated terminology), Incomplete Penetrance & Variable Expression (when you get the thing, but only sort of), and Somatic Mutation (not inheritable).

Hoping everyone could share my story please. I am living with a rare disease called Melorheostosis and one in a million in the world contract the disease. With your help I could reach my goal and get to save my leg and become healthy again! Thank you all and much love to everyone ❤️

hi!! i got officially diagnosed with MCAS (mast cell activation syndrome) yesterday. my doctor started me on low dose naltrexone & cromolyn therapy. i’ve always had “weird” reactions to things since i was little, stomach pains that go unexplained bc tests come back normal, a lot of inflammatory issues with my muscles/joints. i’m excited to see how these medications help me feel better!

If this isn't okay to have here feel free to take it down, however I'm only posting it here as a last resort because I cannot find anywhere inside or out of reddit where I can post this.

I'm 20 years old. I had gastroschisis and was born 2 months early. It was a really complicated case. I was in the hospital for 6 months, had 5 major surgeries, 3 minor, heart stopped a few times, and I got my spleen, gallbladder, and appendix removed.

in August I started having pain issues and health scares and I was terrified then when everything came back fine physically my parents told me the doctors said that the trauma of my birth and recovery would affect me in some way psychologically later in life, just no telling how or when. Apparently that common in new-borns with complicated births.

Has anyone else experienced this? How did you navigate it? I feel like I have no one to talk to about this who has actual experience with it because I'm the only person I know who had it, and had it this complicated.

Again, I'm only asking to see if others experienced the same but if it appears this breaks rule 1 feel free to delete.

Was wondering if anyone has had a rash after rituximab, after about 9 weeks. Looks like heat rash not raised

My daughter had Emanuel Syndrome, a super rare 11/22 chromosomal variant. I’ve got a similar chromosomal thing going on, only mine never manifested into symptoms so I only found out after she was born. Hermione had all kinds of differences, the big one turned out to be epilepsy as she passed away from a seizure at the age of 3.

That was back in 2015.

Since then I’ve gone into filmmaking and I’m currently in production on Infinity Care, a sci-fi animated film about her life and death. Think LOVE, DEATH, + ROBOTS meets Disney. We have a teaser trailer and my animation team is great.

Getting it right onscreen is hard, ngl. The animators are having to change the way they think about human movement.

What would you like to see depicted on screen in terms of rare diseases?

Hey, I just got diagnosed, pretty late unfortunately coz nobody for 4 months thought of WD but becasue nothing came out in labs why my liver went up they finally went for Ceruloplasmin and copper in 24h urine and boom. I was living in japan for year and ate tons of soy, seafood, dark chocolate even liver!!!everything super high in Cu... For 4 months doctors from both Japan and Poland didnt thought of WD EVEN THO I showed both neurological, psychological and liver problems. But here I am. I wanted to ask if anyone of you have weird metallic like or toxic somthing like burning wire taste/smell(?) from your mouth and nose. I wonder if Im the only one. Also how to cope with this whole thing, I feel terrible. Anemic, low RBC and WBC high pottasium (hemolysis), ferretin 13, alt 200 ast 100. I can't cope with that all.

so sometime about 8 years ago my father got this bad rash on his leg which they gave him steroids to resolve.. it happened again two years later and he saw a specialist that decided it was gout and just treated him for that. well turns out my father got really really realllllllly lucky.

I recently had an injury i was hospitalized for and had multiple hernia repaired. that was a year ago and I've been dealing with all there weird findings. a positive ana but negative for every test. fatty liver and im skinny and barely drink a couple times a year. I started getting all there weird cholesterol readings and I have a healthy diet and enjoy being active.

welp i decided to do some genetic testing and i kept seeing different labels for "risk identified" like 3 different kinds of markers all positive for familial mediterranean fever

i looked it the disease and I see a line for "causes rash" below knee so i looked up some picture and what do you know they all looked exactly like my dads leg and he experienced every symptom that aligns with the disease.

here the fun part. Turns out the medicine for this disease is colchicine which is the same medicine for gout, which is my father was put on and has since has not had a single breakout.

theres some ways this disease also affects your ldl and cholesterol. I've been having terrible ibs-d like symptoms and i asked my gi for a cholesterol test but he refused as my last test was fine. I had a feeling my cholesterol must be bad since my body kept just tossing out undigested food and then i dealt with dirrhea a dozen times a day for months so i went to my pcp who happily ordered the test for me: the test shows my numbers are suddenly all elevated.

so i am very pissed at my useless GI. i assume when my doctor sees these results he'll fix me up with some statins

and now i have the pleasure of setting up an appointment with rheumotology where I will show them photos of my dads leg, as well as all the dna markers i found with an at home test which should demonstrate im a carrier, hopefully they'll help me end all this abdominal pain.

I knew something was wrong when i got a positive ANA test and steroids for my radiculopathy kept making me feel so much better especially GI wise.

all of these signs and soo many doctor visits but no one had the full story to put it all together

I was diagnosed with a rare disease during medical school. Being a physician-scientist AND a patient has been an experience I can’t describe. I have very high standards for myself and the work I do, so having an illness interfere with my career has been miserable. Hoping to connect with someone who understands this struggle.

I've been looking into the relationship between RASopathies and neurodevelopmental conditions, particularly autism and ADHD. A high prevalence of those disorders has been reported in various rasopathies such as neurofibromatosis type 1, Noonan and Costello syndrome.

Since all these genetic disorders involve mutations in genes affecting the RAS/MAPK pathway, in other words this disorders are rasopathies, I wonder if there's a clear explanation for why this predisposes to autism.

If anyone has papers or can better explain the connection between the RAS pathway and ASD, I’d really appreciate it.

I have a rasopathie myself, I have NF1 and I have as a consequence of that ASD, ADHD and dyspraxia.

Does anyone with MCADD or another fatty acid oxidation disease have problems with fat soluble vitamin deficiency? What's the best way to supplement if my metabolism doesn't work the normal way

Hey everyone! :)

My name is Libby, and I’m a pre-med undergrad at Case Western Reserve University. After being diagnosed with a few rare diseases in the last year, I found myself frustrated by the lack of research, awareness, and understanding of these conditions—so I started the Rare Disease Intercollegiate Advocacy Coalition (RDIAC) (our website is rdiac.org if you want to check it out for more info!) to help change that. RDIAC is a student-led organization that connects students impacted by rare diseases to advocate, educate, and build community. Right now, I’m looking for Campus Anchors—students who want to start a chapter of RDIAC at their university or high school! Anchors serve as the link between their campus and the larger org, helping to spread awareness, support students with rare diseases, and advocate for change. No experience is needed—just passion! If you’re in school and interested in getting involved (or just want to learn more), comment below or email me at rdiac.initiative@gmail.com! 💛💛

Update: It's not allowing me to comment on this post or message certain users, so if you're interested, email the RDIAC email (rdiac.initiative@gmail.com), also had some issues with the email this morning so if you me an email and it wouldn't send try again now, should be working now! Thank you all!! :)

Genetic best practices are changing quickly and I was hoping we could survey folks who've been to genetics recently and see what's happening where you are with genetic testing.

I ask because we are working on a sub wiki to help patients and I want to accurately explain the levels of genetic testing.

So if youve had genetic testing in the last year can you comment your region and what the testing sequence was for you?

I'm in the US and when I first started working with my geneticist the testing sequence was...

1. Single gene testing or a panel of genes screening for a specific issue (immune or hematology mutation panels frex).

2. Then Whole Exome Sequencing which finds ~80% of generic disorders.

3. Then Whole Genome Sequencing.

NOW where I live it's changed and they are going from single gene testing straight to whole genome which I think is better (WGS is important for spotting the SWAN patients and it facilitates referrals to undiagnosed disease programs).

But I see posts here where it's still Whole Exome Sequencing first. What are you guys seeing out there in the world with genetic testing?

Free Advocacy Support for Those Affected by Neuromuscular Disorders

Hi everyone,

My name is Holly, and I have CMT1A. As an advocate with Pathfinders Neuromuscular Alliance, I wanted to let you know that we offer free advocacy services to individuals and families affected by neuromuscular conditions.

Whether you have a big problem, a small question, or just need someone to talk to, I’m here to help. Our services are completely free and are designed to support you with a variety of challenges related to living with a neuromuscular disorder.

Here’s how we can assist:

- Navigating healthcare, insurance, and medical support

- Accessing local resources and services

- Providing legal guidance for disability rights

- Offering emotional support and connecting you with others

I personally understand that CMT can be overwhelming and isolating, and our service is here to provide the support and guidance you need. If you ever feel like you don’t know where to turn or need a helping hand, please don’t hesitate to reach out.

You can message me directly, or visit our website https://www.pathfindersalliance.org.uk/ for more details on how we can assist you.

Sharing this study from NORD as it's open to all rare disease patients and it looks like even patients in the middle of the diagnostic odyssey.

Broadly inclusive studies for rare disease are a rarity in and of themselves so this is an unusual and important chance for all of us to be heard, especially if we're too obscure to get much research for our condition.

It's a fairly simple survey of patients. It doesn't take long. (I didn't need to look at the financials bc I already knew and they don't ask for exact dollar amounts so don't let their document list deter you.)

Note: If your diagnosis isn't in the initial list of options, just click next and fill in the other box.

It appears to only be for US patients fyi.

I encourage everyone to consider participating as what they learn from this survey will help shape funding and care in the future.

https://rarediseases.org/living-rare-study-launch

(Yes, I'm a mod but I did run this past the other mods before posting to be sure it was okay.)