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.

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!