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 yet. 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 phx children’s hospital. He 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. The 2 cortisol tests came back extremely elevated at greater than 30 times the normal cortisol level. He called us and said he suspected Cushing’s 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 want 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. 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 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 the NIH and Dr. Chittiboina and his team. We are also grateful for the prayers of many and our community 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!

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

I’m wondering if anyone here has been diagnosed with aHUS and went through a surgery. I’m having surgery in about a week and a half to repair a hiatal hernia that’s caused me years of miserable GI/acid reflux related issues. I was diagnosed with aHUS as a toddler (kidneys failed, needed blood transfusions and dialysis, PICU stay) but have been asymptomatic of it since that initial onset (I’m 30 now). I know surgery can be a triggering event to flare it up again, and even though I haven’t been symptomatic, I’m kinda worried. I always bring up my history with aHUS at the doctors in case it’s ever relevant, and sometimes they look at me like I’m crazy and they have no idea what it even is. Anyone else?

so, I have Stargardts (1/10000) and keratoconus (1/2000-1/500), and I carry the albinism gene (mildly expressed so I’m very very blond and pale), but together they’re 1/16 million - 1/20 million. there’s no cure for Stargardt’s (macula is degenerating) and only a surgery that stabilises not fixes the keratoconus (my corneas are weak and sag which can make my prescription literally flip in a week). I’m only 17 yrs old btw, in yr 13, and starting to work with my local MP on disability rights. I only became legally visually impaired in Jan, and since then I’ve had surgery on my right eye, and the doctors are insisting on do surgery on my left before Christmas. I am a full-time student. this is not working! and I’m having side effects no one knows about because it’s so rare! thank God for the two of the lead staff for my sixth form helping. my ehcp took a yr 1/2 to come through and it’s not even binding past 18! the script we're working on now comes from an actual book my teacher doesn’t have an online version, and at first she made me take pictures and zoom in to read it! now I have to suffer with a3 again :( my attendance this month is 45% because of eyes and other health issues and I’m so tired of it all! I would not wish this on the person I hated the most. death is not the worst thing for someone, as you don’t feel when you’re dead. death is mercy. I’d rather be dead than paralysed or deaf (bc I’m visually impaired don’t hate my besties partially deaf). but the good news is, I started goalball like just over 6 months and people already want me playing intermediate. btw if anyone’s curious, I’m happy to answer questions but if its rude or disrespectful, shut tf up. also im a british/us citizen, and i moved to the uk as a kid before all of this started (this is a timeline of 4 yrs btw) and someone i know with stargardts says the scans were astronomically expensive, so im forever grateful for that.

 also some rules=

no rude comments

if youre commenting your condition pls say if its ok for people to ask you questions! people should respect boundaries!

just be nice <3

Hey all. Wondering if anyone has seen a similar experience to this and gotten answers.

It’s about 15 months since my husband had EBV-HLH, about 12 months since he went into ‘remission’. in the few years prior he was getting constantly sick with viruses and infections, his cold sores were at least monthly and started to appear in his nose and inside his mouth as well as lips, he’s had a diagnosis of Acalculous Cholecystitis recently (inflammation/thickening of gallbladder with no sludge or blockages) which we suspect he had years prior also because of the frequent pain he would have in the area and bloating.

Basically the drs can’t figure out why his existing EBV antibodies weren’t able to keep the EBV under control and it spiralled into HLH.

He’s had a genetic panel that was normal and no other obvious answers in blood tests. At 15months post HLH he is returning to the state he was in for those years prior and we are worried. He’s doing a ‘vaccine challenge’ test to test his B cells. The immunologist said that’s the end of the road for testing basically.

Has anyone seen a similar story and figured out why their immune system clearly was not functioning properly? Should we seek other opinions or does anyone know of other immune cell testing that could be done. We are in regional Victoria Australia, so Melbourne or Telehealth is our best option for healthcare.

We have 2 little kids and a long life left to live, hopefully with some kind of answer as to his immune dysfunction and getting some quality of life back

Hi all, I’m currently 25 weeks pregnant and my son has been diagnosed with Agenesis of the Corpus Callosum after an MRI done at 22 weeks. The pediatric neurologist also saw what he called “undulation” on one side of the brain, which could be premature folding and develop into polymicrogyria but he was not confident to make that diagnosis yet.

At first he said we’d have another MRI done 4-6 weeks after the baby is born to check on how the brain developed, but now we have another one scheduled at 27 weeks. Based on the ACC alone, he’s optimistic this won’t have a massive impact on our son’s quality of life. The thing I’m left with questions about is the polymicrogyria. I’ve tried searching for how this along with ACC will affect his life but not seeing much information. Also with it being on one side of his brain, the neurologist said it would be developing as unilateral which is less severe. I’m not sure if a development into affecting both sides is possible.

Mainly I just want to know if anyone has experience with both of these conditions, or specifically PMG. I understand with ACC it’s just a lot of unknowns until baby is here and we see his development. I’m just left with a lot of unknowns about PMG, especially if confirmed unilateral.

For the last 14years I've been trying to get a diagnosis for the bone lesions I have throughout my body. They were found in 2013 due to pain and more have been found recently. These lesions are like nothing any doctor has seen. I've been through dozens of biopsies, hundreds of doctors throughout a dozen hospital systems, in at least 6 different states. The lesions are in the center of my bones, where the marrow should be, if they are biopsied it causes them to grow. I've had my right humerus drilled out 3 times now and it just comes right back. All biopsies have come back as normal bone. My bones are INCREDIBLY hard, doctors have broken drill bits trying to get into my right humerus, for bone marrow biopsies in my vertebrae, pelvis, anywhere, I have to be put under general anesthesia and they have to use a rubber mallet and even then, they still have a hard time getting through the bone. I've never broken a bone (tiny break on a very small toe bone is the only one) and there are times where I should have, falls off horses, snowboarding, rollerblading, racing cars, extreme sports have been my whole life up to 2012. These lesions are extremely painful. The pain is the worst at night between 12am and 4am and comes in flares where I can't get out of bed. The pain is like an extreme pressure, it feels like my bone is going to explode but keeps going. Triggers for the pain are vibrations (riding in a car, concerts, fireworks), any blood loss (even the tiniest amount), illness, stress (physical, mental), menstruation (I've had the pain in my right femur since I got my period at 11, just not as strong as now. The day before my period and during it). Movement, ice, heat, nothing helps it. I take pain meds but it just takes the edge off and makes it tolerable so I can fall asleep. I've been misdiagnosed with Osteomyelitis (3x) CRMO, Fibrous Dysplasia, even had my case sent to the NIHUDN but it was denied because the Dr that recommended me, put in his letter that he "didn't think it was genetic." I've never had any genetic testing.

I currently have a Dr at Harvard looking at my case and I'm working with a metabolic bone disease clinic but even they say they haven't seen anything like this.

Does anyone know anyone or ever heard of something similar? I'm so sick of telling people it's undiagnosed and no one knows what it is and getting eye rolls like I'm making it up. I haven't been able to find someone with similar symptoms or anything. It makes for a very lonely, terrifying journey.

**I'm not looking for a diagnosis here. I'd love to hear opinions, theories, ideas, pointers for pain relief, tests to ask for, stuff like that ♡

Thank You for reading my novel ♡

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.

Hey everyone,

I was looking around online for a group of people my age dealing with Hirayama Disease, and honestly, it felt impossible to find anyone. Since it’s a super rare condition, it can feel incredibly lonely.

Let's be real—dealing with hand weakness, muscle wasting, or having to wear a cervical collar to class is exhausting. Trying to take notes during a lecture, typing up essays, or explaining to your friends why your hand freezes up when it gets cold is something most people around us just don't get.

Because of that, I decided to start a casual, supportive subreddit: https://www.reddit.com/r/LivingWithHirayama/

I wanted to build a digital club where we can just hang out and talk about the actual daily reality of living with this. We can share school life hacks (like the best voice-to-text apps or ergonomic grips for typing), talk about how to make cervical collars more comfortable, or just vent on the rough days.

The best news from the medical stuff is that Hirayama eventually stops progressing after a few years—so this group isn't about stressing over the future. It’s just a positive, chill space for us to back each other up, share tips, and make sure none of us are navigating this diagnosis alone.

If you’re a student dealing with this, or know someone who is, please come join us! You’re totally welcome here.

Have been dealing with mystery health issues for more than decade now that started as a child. Have gone down multiple different avenues. Looking to pull the trigger on Whole Genome Sequencing; is it worth it? Have you done it before? And what price range should be considered average and reasonable? Any recommendations? Thanks

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

“KIF1A encodes a protein of the same name, part of a group of proteins called kinesins. It serves as a molecular “motor,” transporting cargo (like nutrients and other molecules needed for nerve cell function) up and down nerve fibers. Variants in KIF1A can disrupt this transport in different ways, impairing nervous system function. For example, KIF1A may not attach well to the cargo, or it may fall apart structurally and be unable to travel. But other research suggests that the KIF1A protein can sometimes build up in cells and become toxic.”

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. According to AI

"A mutation in the FOXP4 gene (Forkhead Box P4) causes an ultra-rare genetic disorder typically characterized by neurodevelopmental delays, language impairment, short stature, and congenital anomalies. FOXP4 is a transcription factor that acts as a genetic switch to regulate tissue and cell development during embryonic growth. [1, 2, 3]

Most identified human cases are monoallelic (heterozygous/inherited from one parent or occurring de novo), which follow an autosomal dominant pattern. However, biallelic (homozygous/inherited from both parents) loss-of-function mutations also exist and result in a much more severe form of the disease. [1]"

For more information on my neurodivergence/medical history at least adjacent to this issue, here are some links

https://www.reddit.com/r/autism/comments/1wv2pz0/im_not_sure_what_my_verbal_tic_means_in_the/

https://www.reddit.com/r/cognitiveTesting/comments/1ullslv/thoughts_on_kif1a_as_an_overlooked_explanation/

https://www.reddit.com/r/antidepressants/comments/1wv1vsj/ive_been_lying_in_bed_all_day_depressed_and_3g_of/

https://www.reddit.com/r/Prolactinoma/comments/1wu7hbl/to_those_who_have_taken_mucuna_p5p_and_vitamin_e/

Curious to hear about your experience getting diagnosed with a rare disease - what was it mistaken for initially, and how did you navigate that process?

My sister Emma is 9 and was supposed to start 4th grade this year, but she never actually finished kindergarten because she was a daredevil at her swim lesson and went too deep. Oxygen deprivation they said? Anyway I'm only 16 so I don't understand all of this. It's been this way since 4 years ago and the doctors said her remaining lifespan is 1 year so we could be looking at her death within a year. I know this much: if and when she passes away, my single mom (who is raising 16 year old twins [I'm one of them], a 12 year old girl who is Emma's most frequent visitor at the hospital, a 10-year-old boy and Emma herself) would be devastated so would my 12-year-old sister. Shoot, everyone would be. Ever since I was 13, 1 year into Emma's PVS, I've been living with my single mom and siblings and had to take over as the caregiver since this mess is freakin' killing my mom. Sorry this is a bit....weird.

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.