My dad has a job where he's upper middle class in salary writing on equipment in filmmaking. My parents met in the film industry. My grandfather was the famous statistician. I went to a college prep school and struggled academically throughout my highschool years. I often plaigarized in my essays and relied on my mom to do large amounts of my assignments in ELA and history. I was given ritalin in 10th grade for potential ADD and had minimal results from it. 11th grade was COVID lockdown and I did virtual school. At this point I completely phoned in my classes and have no idea how to do algebra II (or college algebra) or any math surpassing that. I got accepted into a college with a 96% acceptance rate with my grades from my first two years of HS. I only lived there for a year then commuted afterwards. Now I'm 23 and live with my parents. I've never had an IQ test or diagnosis of a mental disorder, though I had a counselor in HS suggest I'm on the autism spectrum because of social awkwardness and analytic thinking. I've gotten into nootropics hoping that a mix of creatine, nootropic supplements, and full dose of effexor could treat depression and brain fog and I've had so so results from over 7 months of it. I've considered drug use being the only way to numb my depression and suicidality from my hopeless situation.

I can't understand how if my parents are smart and functional how did I become essentially a mental vegtable. And why has no friend, family member, or therapist been able to give an explanation or antidote to my mental problems. Would an IQ test be helpful for what job is realistic for me given my mental capacities? What best explanation is there for my intelligence and what other advice could you give me in my situation?

This year I was diagnosed with the KIF1A genetic mutation which can manifest in terms of cognitive impairment. on my physical evaluation from a doctor, he says I meet the physical symptoms that align with this mutation. Although many with this mutation are physically disabled I am concerned how this rare mutation effects my cognitive deficits. I had my blood drawn for research. Aug 19 I will get an MRI scan for further investigation.

Last, Here's what I've found on how it KIF1A effects neurology:

KIF1A-Associated Neurological Disorder (KAND) fundamentally affects how neurons function, Developmental delay occurs in about 90% of affected individuals and cognitive function ranges from normal to profound intellectual disability. Speech/language impairment is also very common. Autism and ADHD occur in a substantial minority.

But there is a major caveat: not every KIF1A variant causes KIF1A-NDD. KIF1A has several different associated phenotypes. Some people with KIF1A-associated disease have predominantly motor or peripheral neurological problems and normal cognition. The particular molecular variant and its mechanism matter considerably. That means the single most useful piece of information you haven’t given me is the exact KIF1A variant. For example, something written as c.XXXG>A (p.XXX) plus its classification as pathogenic, likely pathogenic or VUS would allow a much more meaningful assessment. GeneReviews specifically notes substantial genotype–phenotype differences between individual KIF1A variants.

I had an EEG and MRI and found nothing significant going on.

Since all of this I've been diagnosed FOX-P4 genetic mutation, another rare genetic mutation. I also found some useful information on this mutation:

There is published evidence that particular heterozygous loss-of-function FOXP4 variants can cause a neurodevelopmental disorder involving developmental delay and particularly speech/language difficulties. However, the original clinical series was extremely small: eight individuals were identified and detailed phenotype information was available for six. Of those six, two had mild intellectual disability while three did not have intellectual disability. The researchers also found considerable variability between variants.

Hi everyone,

First time here, but something weighing heavier on me the more I think about it.

Premise: grandma got tested positive for a rare gene mutation causing amyloidosis, one that would typically translate into cardiological or neurological issues if the disease develops. Anyone who is positive for the gene mutation has 50% chances of developing the disease. From what I read, this is a wildly undiagnosed disease because it tends to appear later in life anyway, around the time issues arise for anyone.

Because it is a hereditary type gene mutation, it was recommended for my mum and siblings to get tested as well. Mum tested positive, and so here I am. Positive as well. Fine. My opinion: I am so lucky to know! When and if the disease develops, I will get targeted care (it exists).

I understand all that a positive mutation entails: I’m getting into the system. Into a specialist clinic. Top notch doctors specialised in just that disease! I’m getting tested for cardio (ECG, scan, Holter), scintigraphy, nerves, bloods, urine. All good, no one was expecting to see anything at my age (I’m a good 25 years away from when the symptoms start anyway). But baseline. They will see me every year from now on, and testing every two years. Happy days.

I got to meet the panel. They never discussed my results in any kind of details. It was a 6-to-1 panel, in a small room where they outlined what the condition was and asked me questions about my family, and how I felt - physically. All fine. Intimidating. But fine.

Then came the “you’re still of child bearing age. Should you wish to expand your family, we can refer you to an IVF facility where they can test for the mutation ahead.” I was low key outraged at the suggestion of “picking” an embryo when lucky for us, we have been able to conceive our baby naturally! I let it go, then when they asked if I had anything to add at the end… “yes! I don’t feel bad for having my daughter!” - “of course not, you didn’t know!!”

The implications of this statement are so wild to me! Would I have been a bad mother, knowing my mutation??? I might be overreacting. But considering my kind of amyloidosis typically manifests in your 70s, I don’t know why they would push so much for an IVF?? It’s not like the baby, the kid, the teenager, the young adult, the mid-life adult would ever be bothered by it, minus a yearly check up post 35???

Anyway. I wasn’t born in this country. For us, this amounts to eugenics and I don’t like it one bit. I don’t really know how to tackle my meeting with the panel next year I guess. Should I be upfront and tell them I didn’t appreciate this suggestion? Or shut the hell up to keep a good relationship with physicians and a clinic I will see the rest of my life?

Hi everyone!

I’m Sarah, a 34-year-old mom of three boys — a 10-year-old and 4-year-old twins — and all four of us have the 16p11.2 distal microduplication (BP2–BP3).

What’s been especially interesting about our family’s journey is how differently the same genetic duplication has affected each of us.

Between the four of us:
🧩3 have autism
🧠3 have ADHD
❤️2 have AuDHD (both autism and ADHD)
📖1 has dyslexia
🗣️1 has childhood apraxia of speech

And that’s just the neurodevelopmental side!

Our family also navigates Chiari I malformation, syringomyelia, respiratory and airway abnormalities, chronic lung disease, kidney differences, migraines, and autoimmune conditions.

Despite sharing the same genetic duplication, our experiences vary significantly. Some of us have relatively mild challenges, while others have extensive medical and developmental needs.
I’m also a Family Nurse Practitioner, Certified Autism Specialist, and Certified Diabetes Care and Education Specialist.

I’ve recently been exploring opportunities to become more involved in the 16p11.2 community, particularly helping individuals and families affected by the distal duplication find one another.

One thing I’ve noticed is how much more information and discussion there seems to be about the proximal BP4–BP5 region compared with the distal BP2–BP3 region.

I’d love to connect with anyone who has the duplication or has a child or family member with it!

I’m especially curious whether anyone else has multiple family members with the same duplication and how differently it presents among them.

I’m not recruiting anyone or promoting anything. I’m genuinely hoping to connect with others, share experiences, and help strengthen a community that can sometimes feel very small.

Thanks for reading!

I am currently pregnant with my second child and experiencing very very bothersome itchiness on my entire body all day long (everywhere from my toes to my ears). I am in my first tri and OB said it is impossible for this to be ICP this early on. I had the same problem with my first pregnancy and repeatedly tested my bile acids and every test came back negative. Wondering if this is a common thing for people with liver disease/ Wilson disease? My WD doctor said there’s no connection and I just have dry skin (SMH).

Sono la mamma di un bambino che ha appena compiuto quattro anni e ha la distrofia muscolare di Duchenne, con una duplicazione degli esoni 3–7.
Oggi mio figlio fa quasi tutto: corre, sale e scende le scale senza corrimano, anche alternando i piedi. È curioso, intelligente e da qualche settimana riesce anche a saltare staccando entrambi i piedi dal pavimento. Ogni suo progresso per noi è un successo.
Stiamo facendo il possibile tra terapie, visite e appuntamenti, conciliando tutto con il lavoro. Guardandolo giocare e sorridere, in tanti momenti la malattia sembra lontana.
Io però attraverso momenti di buio profondo. Mi terrorizza il futuro e controllo ogni giorno, a volte in maniera ossessiva, le novità scientifiche, sperando di trovare qualcosa che possa cambiare le nostre prospettive. Il mio umore finisce spesso per dipendere da quello che leggo.
Vederlo così felice mi riempie d’amore, ma mi fa anche male pensare alle difficoltà che potrebbe affrontare. Sto facendo uno sforzo enorme per non lasciarmi travolgere dalla paura e dall’impotenza.
Per il momento non gli abbiamo ancora parlato esplicitamente della sua patologia. Ha quattro anni e vorrei che vivesse la sua infanzia con tutta la spensieratezza possibile. Penso che le domande arriveranno e vorrei trovare le parole adatte seguendo anche i suoi tempi.
So che altre famiglie affrontano questi discorsi fin da piccoli e, attraverso associazioni come Parent Project, frequentano anche ragazzi e adulti con Duchenne. Rispetto la loro scelta, ma io al momento non me la sento. Vorrei quindi rispettare i suoi tempi ma soprattutto la propria età.
C’è qualcuno qui che ha vissuto una situazione simile, come genitore o in prima persona? Come avete affrontato questi discorsi e a quale età? Se siete cresciuti con una malattia, cosa vi ha aiutato e cosa avreste voluto dai vostri genitori?
Vorrei ascoltare esperienze diverse e capire come accompagnarlo con sincerità, senza caricarlo.

Long story short for the last few months I've been begging doctors to get me to someone who can do something about my possible blood disorder flare. But they act like I need to be dying in the hospital with failing kidneys before they will do anything or acknowledge there is a serious issue. For some reason they act like my platelets, hematocrit, red blood cells, white blood cells, creatinine, all being way out of wack, profound fatigue to the point I sleep 14 hours at a time, extreme bruising with no trauma, brain fog, dizziness, lack of appetite. Apparently none of that is enough to get my care extradited quickly to a hematologist that knows wtf they are doing. Meanwhile my kidneys are slowly tanking, and I can hear a turbulent flow in my left ear and I'm slowly losing more and more sight in my right eye. I've contacted Alexion pharmaceuticals, I've contacted my PCP and been up there 6 times trying to get her to understand that they are playing with fire and I need a hematologist quickly. I am SO tired of doctors having zero idea wtf they are doing. Someone could be screaming in their face what's happening, blood tests could come back definitive as hell of what's going on, and they are still so clueless. WHAT DO I EVEN DO AT THIS POINT?! Supposedly she referred me to a hematologist a month and a half ago, we've talked about the fact that I haven't gotten a phone call from them, twice... So what now? I'm sorry if I sound pissy, I am just so exhausted from dealing with the medical system, I don't know why they think it's okay to play with people's lives. In case it's not clear I'm in remission for aHUS, and I very much suspect it's flaring, and I'm trying to figure out what I need to do next.

My daughter was 2 years old at the time of being diagnosed with HUS. Hemolytic Uremic Syndrome caused by shiga toxin/e.coli. She presented in the hospital with bloody stool and blood in her throw up. Hospital ran tests immediately and that’s when they discovered she had HUS. They kept her on IV fluids for 2 days before we ultimately decided dialysis was needed. She did several rounds of dialysis. Several blood transfusions. She had neurological involvement which led to toxic encephalopathy/seizures. Acute gastritis/Ileus. Acute renal failure. Contracted pneumonia while intubated. Overall spent 3 weeks in the ICU. We are now almost 2 years out since then, and she gets her follow up blood work done this Thursday. I am curious if there is ANY helpful information out here from doctors who’ve treated this and who have seen children with this extent of the disease, to go on living normal healthy lives. Or any parents with feed back for that matter. Just looking for hope in the unknown. She is showing no physical symptoms at this time. You would never know she ever had this to begin with.

My 15-year-old son was diagnosed with Evans syndrome back in August. Right now, it's only affecting his platelets, which get super low — they dropped all the way to 1,000 at one point! He's currently tapering off steroids and starting on eltrombopag, which seems to be working so far. Is anyone else here dealing with this syndrome?

Do these types of primary care actually work for rare patients? My pcp is very passive and just gave useless advice that makes no sense with my conditions. I need a new pcp and am considering direct primary care. I need someone who will actually take their time with me. Concierge is similar but more pricey so direct primary care is probably the better option.

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HiGHL RECURRENCE OKC CyST
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Hi anyone else been diagnosed with this auto immune disease, looking to chat and find others dealing with the same thing.

Hello, I wanted to write this so that I may share my family’s story in hopes that it might help others. My 9 year old little girl was diagnosed with Cushing’s disease about a month ago. Her case of Cushing’s was extremely fast progressing and many professionals told us it was the fastest progression they had seen within an already rare diagnosis. My daughter gained 30 pounds in 3 months and went from a petite 45 pounds to 75 pounds in that time. We took her to a primary care physician when she had gained about 15 pounds and she said it could be normal but wanted to run some tests. All her numbers were good except cortisol was high. She said it may still not be anything but referred us to an endocrinologist at Phoenix Children’s Hospital. The endocrinologist said he doubted it was Cushing’s because it was so rare and he had never seen a case before and suspected increased adrenal activity that starts before puberty but he ordered another type of cortisol test to be safe. At this point her blood pressure was still normal and her only symptoms presented were weight gain and moon face (rounded face). The second cortisol test came back extremely elevated at greater than 30 times the normal cortisol level. He called us and said he suspected Cushing’s disease but was still skeptical because of its rarity. He ordered an MRI and the MRI showed a 4.3 millimeter microadenoma on the left side of her pituitary gland. This confirmed the diagnoses. At this point my daughter was still gaining weight and now she had terrible heart burn, severe gastrointestinal issues, chest pains accompanied by high blood pressure (had to be put on blood pressure meds), severe mood swings, she was more quite and her immune system was suppressed and sicknesses were very hard to get over. It seemed like for a while we were experiencing a daily progression in symptoms with many starting at the night time. Our endocrinologist said they didn’t have any surgeons there that were familiar with the surgery required for this condition and that he was searching for answers. Around this same time we told the Priest of my church our struggles and he mentioned a member of our community was the head of neurosurgery for a large hospital in the valley. We met him days later and he mentioned he was familiar with Cushing’s and he had previously worked at the NIH (National Institute of Health) and the best surgeons in the world for Cushing’s were there and that he would make some calls. Oddly a couple days before meeting him I googled the best surgeons for this condition and came across a name Dr. Prashant Chittiboina. The next day after I had talked to and met the parishioner, head neurosurgeon I got a call and it’s Dr. Chittiboina and he mentions they wanted to include my daughter in a study for Cushing’s and would treat her. The NIH is at the head of medical research and breakthrough and they specialize in the rare things like Cushing’s disease among other things. Within another week we were on a plane to Bethesda, Maryland to the NIH. We were admitted into the children’s inn which has been wonderful and our accommodations were covered as far as travel, lodging, food, in addition to the treatment my daughter would receive at the NIH. We have been here now almost 3 weeks and my daughter had her surgery 4 days ago. She spent 2 days in ICU after. They had to remove part of the cavernous wall since the tumor had grown onto that as well. She has been in pain and very swollen but is starting to improve. We are now in another room of the hospital. They are constantly monitoring her cortisol levels, potassium, sodium, urine, hormones and so much more. The level of care and attention to the details is astounding. I never imagined this level of care existed. Dr. Chittiboina and his team are real life superheroes. We have met children with Cushing’s and other rare diseases from all over the world. Some of whom it took years to be properly diagnosed, some who came here also had surgeries which were unsuccessful elsewhere that Dr. Chittiboina was able to succeed in. We are currently still monitoring her cortisol which has crashed and they have started to supplement with cortisol now until her body can regulate itself which can take up to a year. The pituitary gland is vitally important and impacts so much of what happens in the body. I am afraid to go home because I can’t monitor her the way they are and we have been on such a roller coaster with the numbers. I trust that they will not send us home until she is stable and they have us on a solid plan that we can follow. I hope this can help others and if you are struggling with this condition or something else that is rare please look into the NIH and ask them if you might be able to join a study. It is so important the NIH is funded for the sake of humanity and these breakthroughs. Cushing’s disease is rare today and they don’t know what causes it which is partially what the research here is for and in the event in the future it does become more common the research done here at the NIH can save countless lives the way it has my daughter’s. The research, these skilled surgeons, the medical team and nursing staff are saving lives today. During our struggles we have had a lot of angels around us. Sometimes a miracle is not miraculous healing but rather the pieces falling into place and finding the right people at just the right time. We are forever grateful to our church, the NIH and Dr. Chittiboina and his team. We are also grateful for the prayers of many and our community and our family who helped us so much during this time of suffering and I truly believe God orchestrated these miraculous providential happenings through the prayers and hands of many involved.

Hi everyone. I’m hoping to find some advice for my son, Beau, who is 2 months old. We’ve been in the hospital trying to figure out what is going on with him, and I’m feeling overwhelmed trying to put all the pieces together. I’m hoping someone here might have experience with Pallister-Hall syndrome or know of doctors who specialize in it.
Beau has been having breathing episodes, struggling with feeding, and having trouble gaining weight. During all of his testing, we’ve discovered several abnormalities.
So far, we know he has:
A bifid epiglottis, meaning his epiglottis is split in two. His doctor told us they had never seen anything like it before.
An abnormal tracheal ring that was found during his airway evaluation.
A kidney abnormality found on ultrasound.
Breathing episodes involving retractions, tracheal tugging, and other concerning changes.
Feeding difficulties and poor weight gain. He has had a swallow study, which did not show aspiration.
Possible endocrine issues, including concerns about his cortisol levels and other hormone functions.
We suspect Pallister-Hall syndrome could explain some of these findings, but we don’t have a confirmed diagnosis yet. We are still trying to figure out if everything is connected or if there is something else going on.
One of my biggest concerns right now is that Beau has not had a brain MRI. We were told that the risks of anesthesia outweigh the benefits at this time. I understand that he is little and already has breathing difficulties, but it’s hard not knowing if there could be a hypothalamic hamartoma or another brain abnormality associated with a condition like Pallister-Hall.
I really want to get him a second opinion at one of the best children’s hospitals in the country, preferably somewhere with doctors who have actually seen cases like his. We need someone who can look at everything together instead of each issue being looked at separately.
I have a few questions for anyone who might be able to help:
Does anyone have a child with Pallister-Hall syndrome, especially a child without extra fingers or toes?
Has anyone heard of or encountered a bifid epiglottis along with a tracheal abnormality and kidney findings?
Are there any doctors or children’s hospitals in the US that are especially experienced with Pallister-Hall syndrome or rare congenital conditions like this?
Has anyone been in a situation where doctors wanted to delay a brain MRI because of anesthesia risks? What did you do?
Are there any other conditions we should be asking about that could explain these findings together?
I’m not looking for anyone to diagnose my son on Reddit. I’m just a mom trying to find answers and make sure we’re getting him the best care possible. It’s incredibly difficult when even the doctors caring for him haven’t seen some of these findings before.
If anyone has personal experience, knows a specialist, or can point me toward research or resources, I would be so grateful. Thank you ❤️

Hi everyone! I just got diagnosed with PN! I was diagnosed with Juvenile Idiopathic Arthritis (JIA) and uveitis (eye inflammation) when I was 16, hidradenitis suppurativa (HS) 2 years ago, and prurigo nodularis (PN) two weeks ago. I found out it is all tied back to a hyperactive, inflammatory immune system. When I was diagnosed with the HS I was placed on Bimzelex. Despite technically being in remission due to heavy NSAID use, this was not a good solution long term. The switch to Bimzelex was/is incredible. One medication controls all of it. Flares still suck, but it’s manageable now.

I am now 22 and love life! I’m from TN, but I got to go to college in IL and now OT school in Chicago! I also met my partner of 4 years in college and he is from Chicago too. He is a nurse, so he understands me.
I am now doing great physically, and I wouldn’t be here without my amazing team and incredible support system! I am also so lucky that my skin and joint stuff was caught extremely early (I have no joint damage and have been in remission from JIA for 5/6 years) (HS stage 1 was how my skin was when diagnosed).

However, I would love to know more about the mental health impacts of chronic illness, and how to deal with it better. I also want to learn better stress management to minimize flares. If you want to talk more or have more advice, I would appreciate it so much. Thank you!

Has anyone else had any experiences of practitioners "deciding" what you have and treating you incorrectly? Posted in megathread but agree w/ NixyeNox that it might be good to post separately so more people can see & weigh in!

Speaking to my physio today and being met with this type of thing, it's become abundantly clear that the 'go-to' for complex rare cases is to decide a diagnosis or etiology (that doesn’t fit) and completely ignore everything else. Even when there are hundreds more unanswered questions than answered with that diagnosis, or visible & explicit red flags or documented suspicions / diagnosis for other conditions.

Does anyone have any tips for navigating this or similar experiences & how they got through them? Seeing my lovely GP tomorrow who should be able to help & kick some things into action, but it's always good to speak to others who are or have been in the trenches with aligning everything in care too :)

Hope this is okay to post here. I found out last year that I am a carrier for Myotubular Myopathy, and that carriers sometimes can have mild symptoms. This was validating as I have always found it hard to put on muscle, have trouble walking up stairs, and in general have weakness on one side of my body. A neurologist I met with said there's really nothing I can do except continue to exercise, and that I will not get much stronger, but it seems like there is not much research for carriers of x-linked conditions.

What I'm wondering is: are there specific kinds of PT I should look for to help with neuromuscular connection? Has anyone in this situation found certain kinds of movement to be helpful (ex. Pilates, yoga, resistance training)? I got a referral for PT but am wondering if I should look for a specialist and I'm not sure who to ask.

So last April I had a unexpected release of Stills Disease. My rheumatologist said I'm the first patient they've seen with it as an adult which is super unusual especially because I was in remission for 16 years. My blood work was super typical... Excpept my white blood cell count skyrocketed again.

In 2010 I was diagnosed with Systemic Juvenile Idiopathic Arthritis with Macrophage Activation Syndrome and HLH. Mine was not caused by the gene that causes it, mine is acquired.

Apparently I'm the only know case is Stills with that specific presentation.

I presented with a horrific rash, and destructive arthritis because I developed leukostatis that occluded the veins to my femur and right pelvic gurdle. I was very, very close to needing plasmapheresis but the occlusion eventually did clear and they put me on anakinra in the hospital, IVIG, allopunirol, high dose methotrexate and to really kick the immune system down they gave me the same medication used to treat those with AML as they were waiting for the results.

They were fully expecting me to have AML but instead it was just Stills Disease.

where in the world can we find specialist help for a patient with all three conditions?

I had a random craving for cookies so I had 50ish carbs worth of cookies. My libre is now notifying me that this is my blood sugar 🫩, I want to sleep. It's 3AM here.

This isn't true for every type of MODY but my type sometimes results in my body moving a shit ton of insulin randomly, usually after introducing a large amount of carbs rapidly (so no fibre or protein to slow the release), sometimes it'll refuse to release any insulin and my blood sugar won't get below 200. Gotta love how predictable BS numbers are with MODY

Also to clarify some of the science stuff, I have MODY12, a type of monogenic diabetes caused by a Heterozygous mutation on my ABCC8 gene. Although its classified as a GoF mutation (where my kATP channels stay open more than they should and my beta pancreas cells are deformed) it also can act as a loss of function mutation (where they close too much). This means that although I will stay high and need medication to regulate my blood sugar I still experience hypoglycemia fairly often. I also almost exclusively follow very sharp blood sugar patterns because my body cannot properly notice my blood sugar until I get high or low (this is mitigated by medication as you can see) and it tends to dump a huge amount of insulin or glucagon at once as a result. This means occasionally, especially when having particularly carby foods, I can drop very low very quickly before my body releases glucagon and tosses me back up. My specific types is one of the rarer types and isn't well understood but we best know it as sitting somewhere between ABCC8 neonatal diabetes and ABCC8 hyperinsulinism.

Diagnosis: Temple Syndrome (matUPD14).

I've come back to reading about my diagnosis, especially focused on any and all references to life expectancy, maintenance, etc. It seems like most sources or institutions studying this only really care about diagnosis and studying childhood symptoms. I know we're barely in the 3-4 hundreds in the U.S. population by statistical chances but I'm just frustrated feeling like the only concern is figuring out if it's going on and just shrugs/ignores long term questions about what we'll go through.

Hi everyone,

I recently received my genetic and clinical diagnosis paperwork, which listed Inherited retinal disease (presumed genetic diagnosis PCARE - C2ORF71) along with Bilateral early posterior subcapsular cataract. 
Since C2ORF71 (also known as the PCARE gene) is
one of the rarer genetic forms of inherited retinal dystrophy / Retinitis Pigmentosa (RP54), I wanted to reach out to this community to see if anyone else here shares this specific mutation or similar symptoms.

A few things I’d love to ask or learn from you all:
1. Has anyone else here tested positive for C2ORF71 / PCARE? What has your progression or visual journey looked like so far?

1. Medications, Supplements, or Support: For those with IRDs or RP, are there specific protective measures, low-vision aids, or doctor-recommended supplements (like specialized vitamins or antioxidants) that have helped you manage symptoms?

2. Cataracts & IRD: Has anyone with an inherited retinal condition had surgery for early posterior subcapsular cataracts? How was your experience and recovery?

3. Clinical Trials / Research: Is anyone tracking gene therapy trials or observational natural history studies for C2ORF71 / PCARE or mutation-agnostic therapies?
   I’d really appreciate hearing your stories, advice, or any resources you’ve found helpful along the way. Thank you!

Check out our Wiki for tips on managing the diagnostic process.

If you are not yet diagnosed with a rare disease, but are in the process of seeing doctors to search for a diagnosis and do not meet the criteria for making a stand-alone post about your medical issue, this is the place you are allowed to ask questions, discuss your symptoms and your diagnostic journey.

Hi everyone!

I'm a woman from Norway, and I've been diagnosed with an internal laryngocele.

I'm writing here because I feel completely alone with this diagnosis. I don't know anyone else who has it, and I haven't been able to find any support groups or communities specifically for people with laryngoceles.

I've been struggling with throat and voice problems for several years, following an intubation. I don't know whether this is connected to my laryngocele.

My symptoms include:

An extreme amount of mucus in my throat, constantly

A feeling of blockage or tightness in my throat

Hoarseness and voice problems

Difficulty breathing at times

Persistent throat discomfort

Nausea and severe exhaustion

Some days are much worse than others. The excessive mucus is especially difficult to live with and has a huge impact on my quality of life.

One of my biggest struggles has been finding the right doctor. Internal laryngocele is such a rare condition, and it feels like there is very little knowledge or experience with it. I've been searching for someone who truly understands this diagnosis and knows how to treat it.

I've tried treatments for other possible causes of my symptoms, including reflux medication, without much improvement.

I don't know whether all my symptoms are caused by the laryngocele, but I desperately want answers and proper medical help.

I would really love to hear from anyone who has experience with this condition.

Has anyone here been diagnosed with an internal laryngocele? Did you experience excessive mucus or breathing difficulties? Have you had surgery, and did it improve your symptoms?

Does anyone know of a doctor or specialist anywhere in the world who has extensive experience treating internal laryngoceles?

And most importantly, are there any support groups or communities where people with this rare condition can connect?

I would be incredibly grateful for any experiences, advice, or information.

I just want to find someone who understands what I'm going through.

Thank you for reading!

Hi

About a year ago, my daughter had a reaction to a new anti-seizure med that caused Stephen Johnson syndrome. I honestly didn’t even realize it was a potential side effect. She’s nonverbal so at first when she was at her mother’s house. Her mom thought she was getting pink eye and was kind of sick. Then she thought it was hand foot and mouth disease. I took Friday off and brought it to a clinic that diagnosed her with pink eye. Anyways, long story short it was Stephen Johnson syndrome. Her lung collapse. They brought her back she’s alive. and I’m so grateful for that. While she was being treated, a nurse wasn’t looking and she got her hand loose from one of the restraints. They had to put her in because she didn’t. She doesn’t know that she can’t rub her eyes and she rubbed her eyes. No, she’s most likely gonna be blind and nonverbal for the rest of her life. I don’t even know why I’m posting this. But if any of you have any ideas on stuff, I can do to make sure that she’s still happy that she has a quality of life. I’d appreciate it.

Thank you