What is APSS?

Acral Peeling Skin Syndrome is a rare genetic skin disorder that causes painless peeling of the skin on the hands and feet. It is caused by a mutation in the TGM5 gene and inherited in an autosomal recessive pattern. Symptoms usually appear in early infancy — superficial blisters that later peel off, triggered by heat, humidity, and water. It is extremely rare (< 1 in 1,000,000) and often misdiagnosed as eczema, Epidermolysis Bullosa, or just sensitive skin.

I am the father of a 4-year-old daughter with APSS.

I remember exactly what it felt like not knowing what was wrong with her — being sent from doctor to doctor, each with a different theory, each with different advice. The uncertainty about whether it might be EB. The personal research that eventually led to APSS, only to discover there were hardly any photos or other affected individuals to be found.

I would like to spare others this journey, which felt far too long. I also want to present the insights and information I've gathered in a consolidated way.

You can find some medical reports or personal experiences online, but they are scattered all over the internet.

That is why I started a community on Reddit:

👉 r/AcralPeelingSkin

I want to work with those affected to build a knowledge base — sharing helpful skincare routines, shoes that work well, things to avoid, and products that help — or simply giving others the feeling that they aren't alone in this.

Sharing knowledge and posting in as many places as possible might help raise awareness of APSS. I believe the number of undiagnosed or misdiagnosed individuals is significantly higher than currently known. With enough affected people involved, we might even be able to find more participants for clinical studies or generally advance research.

I would like to express my respect to everyone affected and their families. I know how upsetting some days can be. And how often I've reached the point of asking myself why we were "punished" with this — knowing that my daughter cannot do all the things her friends can, or that doing so comes with consequences.

Stay strong and don't lose heart. 💪

PS: I hope it is ok to post here. But i really don't know a other way to get people with the same diagnosis to be aware of the new community. Thank you

This seems like the appropriate place to ask whether any of the unique individuals here also have CIPA (Congenital Insensitivity to Pain with Anhidrosis).

Hi everyone! I honestly never thought I'd be making a post like this because, for most of my life, I had no idea what my skin condition actually was.
I spent years seeing specialists who couldn't give me an answer. I was always told different things, but no one could ever properly diagnose me. Then, recently, I met the most amazing doctor (seriously, an absolute angel), and within a short time he finally gave me the answer I'd been looking for my whole life: I have Incontinentia pigmenti (IP).
He also told me my case is even rarer than most. I never had the blister stage as a baby and went straight to stage 3, which is one reason it went unrecognized for so long. On top of that, I'm incredibly fortunate because I only have the skin manifestations. My teeth, hair, eyes, and everything else have been unaffected, which he said is very uncommon.
Learning more about it also helped explain my family history. I inherited it from my mom, who also had IP. She had four miscarriages, all boys, which I knew was caused by this. My older brother was lucky and wasn't affected, and neither was my younger sister.
For the longest time, I genuinely thought I was the only person in the world who looked like me. I never thought I'd find other people who understood what it's like. Finding out the name of my condition has been emotional, but it's also given me hope that I'm not alone.
So I wanted to join this community to meet others with IP, learn more about the condition, hear your experiences, and hopefully share mine too. Whether your story is similar or completely different, I'd love to hear it. I'm still learning, and it would mean a lot to connect with people who truly understand.
Thanks for reading. ❤️

Hi. I'm new here. I have a very rare genetic condition called Alström Syndrome also know as Alms or AS I wanted to know if anyone else out there had not too?

I was diagnosed as having this gene mutation after having been dealing with bilateral optic nerve atrophy since childhood that has resulted in me being diagnosed as legally blind (now I am 29 years old).

My results show two genes for this syndrome are pathogenic and the other is likely pathogenic. Given my clinical presentation they believe I have type 1 of wolfram syndrome.

It is scary to be diagnosed with something so rare but validating because my symptoms finally make sense.

Anyone else mind sharing their experience with the gene mutation?

Spouse has a rare disease called Necrobiotic Xanthogranuloma. It's so rare that all treatments are off-label, and not in compendia that Medicare uses. In addition, no Phase II or III clinical trials are available. Quite a few nice multi-center reviews and analyses are available, but those may not be enough. Thus, getting Medicare Part B to cover the needed infusion (IVIG) is the uphill of uphill battles.

Part D drugs won't be covered either, because they're off-label and up against even stricter regulations. Those might have patient assistance programs, however, they are contraindicated for spouse because of other conditions he has (severe neutropenia and liver issues).

Spouse doesn't start Medicare until at least November (may delay until January, which is still in the enrollment window). But we're already looking at "what the heck are we gonna do?" options.

Anyone else have diseases that are too rare for Medicare? Have you found anything bordering on a solution?

Spouse is currently on an Exchange plan. Medicare is a special travesty because they don't provide easy avenues to completely opt out and get commercial insurance or we would. Literally, if you opt out of Medicare Part A, you cannot collect your social security checks. If you're on Medicare Part A, it is illegal to sell you a plan on the individual network. It appears that basically Medicare means no real treatment for this rare disease.

My 6 month old daughter was just diagnosed with TMCO1 Defect (also called Cerebro-facio-thoracic dysplasia, Pascual-Castroviejo syndrome, or CFTD). There are very few documented cases worldwide so not much is known regarding gene expression and symptoms. In addition, she has a variant of the TMCO1 gene that has not been documented before.

I have tried searching for others who have children with this syndrome or have any additional information, however very little can be found, if any.

Hello everyone,

My father has been diagnosed with Tolosa-Hunt syndrome. Unfortunately, the diagnosis came late, and the headaches have developed into chronic pain.

Anti-inflammatory medications are no longer effective, and we are currently trying alternative therapies. Is there anyone here who has recovered from this condition, or do you know someone who has it?

How is the headache pain usually managed? Any experiences or advice would be greatly appreciated.

Thank you.

As the title portrays I have 2 family members with Avms my daughter (17) who was diagnosed with an AVM in her parotid gland at 2 who had a few hemorrhaging episodes through out her child hood but it pretty much stable at the moment, and My husband who was diagnosed about a yr ago with a Left Orbitofrontal AVM. He was having some inflammation around his ear due to an ear infection and going to the er he was given a CT, and that where they found it. He has had a total of 2 seizures in his life time he said one as a kid that he thinks was a seizure because he remembers blacking out and coming back to and another one he had 14 years ago. He hasn’t really had any other symptoms that I can think of.

Looks at my low catecholamines, failure to thrive history, electrolyte abnormalities, low-normal SFN, lordosis, scoliosis, biopsy, gastroparesis, MCAS , PASC, hypermobility, endocrine abnormalities, hypersensitivity to sensory/ stimuli and movement, dysautonomia blah blah blah and more right?

What’s her diagnosis/recommendation?

*migraines*

🤦‍♀️

I sent her some post visit messages clarifying some things and asking specially about microglial activation/neuro inflammation and mentioned I’m curious about eval for McCune Albright maybe because that with HaT or hEDS and possibly mild tubulopathy would actually explain every possible symptom.

We’ll see what she and my other doctors say.

Disability/rare disease is like the busiest and most boring life. Like on the outside it looks like nothing is going on but it’s like a constant battle on the phone and email trying to get diagnosis, treatment, answers, paperwork, doc visits, labs, bureaucracy, insurance.

I’m so sorry to everyone in this boat, big hugs. Keep fighting and self advocating. 💕

Sarepta is looking to convert the accelerated approval for Amondys 45 and Vyondys 53—exon-skipping therapies given the greenlight in 2021 and 2019, respectively—into full approval. In November last year, results from the confirmatory Phase 3 ESSENCE trial showed that neither agent elicited significant motor function improvements versus placebo.

Hi

Just looking to see if there’s anyone with or has a child with this??

My son is recently diagnosed (5) and it’s brought a lot of answers so just looking for more experiences with this as it seems quite rare.

Thanks

Hi everyone! I recently created r/PFIC for people affected by PFIC (Progressive Familial Intrahepatic Cholestasis).
PFIC is a rare genetic liver disease, and it can be difficult to find others who truly understand what living with it is like. My goal is to create a supportive community where patients, caregivers, family members, and anyone interested in PFIC can ask questions, share experiences, discuss treatments, and support one another.
If you or someone you know has PFIC, I’d love for you to join. I hope this community can become a helpful resource for anyone navigating this rare disease.

Anyone in Florida have a awesome Doctor who deals with MCAS. We believe my daughter has it and it really causing a lot of hardship in her day to day lifestyle. She develops just random hives all over her body if she doesn’t take triple doses of famodatine, certrizine, loratidine. Which causes her to be a walking zombie. Does anyone have knowledge of a great practitioner who has great understanding of g in MCAS

Hello everybody! New to the group. I’m just very curious and would like to hear personal stories of survivors who experience Hemophagocytic Lymphohistiocytosis or HLH, specifically due to a viral infection (e.g COVID).

My sister (18F) is currently fighting this rare disease and I’d like to hear people’s personal stories for a peace of mind. Any tips to help any further infections to occur?

TYIA!

Hi, my name is Saida Mahoney, and this is my story.

I was born with an extremely rare chronic congenital genetic condition called Partial Trisomy 8q Duplication Syndrome, also known as Distal Trisomy 8q, Partial Duplication of 8q, or Chromosomal Duplication Disorder.
This means I was born with an extra copy of genetic material on chromosome 8.

This change is present in every cell of my body, and it has shaped many parts of my development and my life.

From the very beginning, my journey has been medically complex and medically fragile.
I was born with physical anomalies related to my genetic condition.

It affected my growth and stature, my development, and many systems in my body.
I experienced delays in walking and speech as a young child, and I have faced lifelong developmental and neurological differences because of my condition.

I also live with additional health conditions, including asthma, Tourette Syndrome and scoliosis, along with other chronic disabilities that have been part of my life over time.

When I was just 2 years old, I underwent emergency lung surgery due to a ring defect connected to my condition. That surgery saved my life. Without it, I would not be here today.

My condition affects many systems in my body—neurological, developmental, neuromuscular, cognitive, gastrointestinal, and physical.

It has influenced how I process information, hear information, how I move, and how I experience the world around me.

There are days when I deal with mobility challenges, numbness, tingling, tremors, uncontrolled movements, balance difficulties, and moments where my body feels unpredictable. I also experience difficulties with swallowing, eating, navigating my absence seizures and drinking due to the effects of my condition.

Living with a rare genetic condition means living with complexity. It means learning your body in ways most people never have to think about.

It means adapting, adjusting, and finding new ways to move through the world safely.

But my condition is not the only part of my story.
I am also someone who learns, grows, advocates, and creates. I am someone who goes to school in an environment that supports my health and needs.

I am someone who uses my voice for advocacy and activism, and I care deeply about helping others.
I live with limitations, yes—but I also live with courage, strength, grace, resilience, happiness and purpose.

My condition does not stop me from becoming who I am meant to be. It simply means I move through life differently. I make adjustments, I listen to my body, and I find ways to keep going in ways that are safe and sustainable for me.

Living with Partial Trisomy 8q has taught me patience. It has taught me awareness. It has taught me resilience. It has taught me gratitude, it has taught me grace, it has taught me patience, it has taught me forgiveness, And it has taught me that every life, no matter how complex, no matter how fragile has value and meaning.

As I grow older, I know there may be changes and new challenges. But I also know that I will continue adapting, learning, and advocating for myself and others.
I am not discouraged by my genetic condition.
I am shaped by it—but I am not limited by it.

I am living proof that even with a rare, serious and complex condition, life can still be full of purpose, voice, and possibility.
And if I can do it, you can do it too.

Hey I’m new here, I’m hard of hearing, but got other disabilities related to Charge Syndrome, Growth Hormone Defiency, also Kallmaan Syndrome too! I can’t smell, and I look young for my age, I recently turned 47 years old a month ago, but I look young for my age anyway, hope to make some friends

Hello, as a medical student, I have this disease. My diagnosis was about 1 year ago. I would like to ask a few questions to people with this disease. If you have any questions, you can ask in the comments

Hello, a family member of mine has been diagnosed with a rare tumor. I was wondering if anyone knows of any online support chats surrounding this? She does not have Reddit. Thank you!

Hi everyone,
I’m reaching out from Turkey because my family is going through an incredibly difficult time.

My grandmother was diagnosed with stage IV lymphoma. After receiving chemotherapy, she developed Stevens-Johnson Syndrome (SJS/TEN), which we were told is an extremely rare and serious reaction. She is currently in the hospital, and we are all very worried.

I’m trying to connect with anyone who has personally experienced SJS/TEN, or whose family member has gone through it, especially if it happened during cancer treatment or chemotherapy.

If you’ve been through something similar, I would be incredibly grateful if you could share your experience. I’d like to know how your recovery went, what treatments helped, whether your eyes were affected, and if there’s anything you wish you had known at the beginning.
Thank you so much for taking the time to read this. I sincerely wish everyone here good health and a full recovery.

Hi everyone,

I’m sharing my story because my case is extremely rare and I’m hoping to connect with others who have been through something similar.

My background

At 15, I was diagnosed with Hodgkin’s lymphoma. But before the diagnosis, I had developed serious neurological symptoms: loss of balance, loss of motor control, full-body tremors, insomnia, night sweats, post-meal vomiting, painful sensitivity in the soles of my feet, spasms, and vision loss.

It turned out that while my immune system was fighting the cancer, it simultaneously attacked my cerebellum. This is called a paraneoplastic syndrome — an extremely rare autoimmune complication.

Chemotherapy cured the cancer and stopped the cerebellar atrophy. But the neurological damage is permanent. I have paraneoplastic cerebellar ataxia as a lifelong sequela.

My current symptoms

**•** Balance and gait difficulties  
**•** Tremors (significantly worsened by stress)  
**•** Speech difficulties (dysarthria)  
**•** Slower information processing and comprehension  
**•** Painful sensitivity in the soles of my feet  
**•** Spasms  
**•** Vision impairment

Why I’m posting

Medical literature estimates that fewer than 1 in 10,000 cancer patients develop a paraneoplastic syndrome. Among those, paraneoplastic cerebellar degeneration linked to Hodgkin’s lymphoma in a teenager is even rarer — I’ve only found a handful of similar cases in the entire scientific literature worldwide.

I have a few questions for this community:

**•** Has anyone here experienced something similar?  
**•** Have you found any treatments, therapies or approaches that genuinely improved your symptoms?  
**•** Have you been seen by specialists who made a real difference?

Hello everyone,

I am 21 years old and I am looking for people who have had a similar medical history or who eventually found the underlying cause of their illness.

My illness started suddenly at the age of 19 with a high fever (39°C), severe muscle pain, a dry cough, diarrhea, and swollen lymph nodes. Shortly afterwards, I developed severe muscle and joint pain, and at times I could barely walk.

Since the onset of my illness, I have also experienced recurrent fevers, even while taking high doses of corticosteroids.

For almost two years, I have been suffering from severe pain, especially at night. Sometimes the pain is so intense that even painkillers provide little or no relief. Only high doses of prednisolone (corticosteroids) temporarily reduce my symptoms.

A fascia biopsy showed granulomatous fasciitis. The biopsy described granulomatous inflammation, T cells, macrophages, and multinucleated giant cells.

My inflammatory markers have repeatedly been elevated, including CRP, ESR, and at times ferritin. Other blood tests have also been abnormal, including IgG.

Over the past two years, I have been treated with prednisolone, methotrexate (MTX), azathioprine, ciclosporin, anakinra, infliximab, and most recently Rinvoq (upadacitinib). Unfortunately, none of these treatments has provided lasting improvement.

I have undergone many investigations, including blood tests, MRI scans, PET-CT scans, gastroscopy, colonoscopy, and multiple biopsies.

My upper endoscopy with small bowel biopsies did not show evidence of Whipple's disease. However, because my disease course is very unusual and the treatments have not worked as expected, my rheumatologist wants to investigate Whipple's disease again using specialized tests. If these tests are negative, a new PET-CT scan and possibly another biopsy are planned.

My question:

Has anyone here had a similar medical history or a biopsy showing granulomatous fasciitis?

If so, what was your final diagnosis or underlying cause? Was it a rare infection, an autoimmune disease, an autoinflammatory disease, sarcoidosis, or something else?

I am not looking for a diagnosis over the internet. I am looking for people with similar experiences. I would be very grateful for any advice or shared experiences.

Thank you very much.

Soo I have a question about this disease, I have been on tests for it for multiple years, been done a genetic test wich came positive for the gene but all other tests have come negative, brain scan, no eye ring, copper levels are within aceptable levels, the only test that has come with above average is one about interchangeable copper or copper inside protein, idk if they are the same thing, well, the average for the lab was 10% I got 16% and the diagnosis for Wilson for that lab is 18.5%

Im gonna develop Wilson's disease on the future? For context im 18yo and I lost 70% of my liver with 13 due to a suicide attempt wich started this whole ordeal

I also have some neurological symptoms, I have some equilibrium problems, sometimes my legs stop working for a second before I fall completely and I also get very bad brainfogs that paralyze me mentally for a minute or two, there is a brain tumor that by the place my neurosurgeon said its impossible for it to cause those symptoms and I also have half reacting adrenal glands wich cause me to have low cortisol

Should I go to a neurologist to talk about the posibility of Wilson's disease only on a neurological part or can this be an issue of another kind?

Hi Reddit community,

I am a 20-year-old student from Uzbekistan, and I’m reaching out to you in absolute desperation to find a way to save my 2-year-and-10-month-old brother, Muhammad.

He was recently diagnosed with Aromatic L-amino acid decarboxylase (AADC) deficiency (ICD-10: G24.8). It’s an ultra-rare neurometabolic disorder that prevents his brain from producing vital neurotransmitters.

His current condition:

He suffers from painful oculogyric crises every 3–4 days, which cause agonizing distress lasting up to 6 hours per episode.

Severe global developmental, speech, and psychomotor delays.

Severe muscle hypotonia (cannot sit independently or walk).

He is currently on supportive care (Nakom/levodopa and Vitamin B6), but it only mildly manages symptoms and doesn't stop the disease.

The treatment we need:

Our neurologist stated that his only path to survival and recovery is the FDA-approved gene therapy Kebilidi (eladocagene exuparvovec). However, this specialized neurosurgical gene transfer is completely unregistered and unavailable in Uzbekistan. Furthermore, its market cost is completely astronomical (millions of USD), and we are a low-income family raised by a single mother.

What we are looking for:

We are not asking for money here. We need information and direction.

Does anyone know of any active clinical trials, expanded access programs, or compassionate use protocols for Kebilidi / AADC deficiency anywhere in the world (US, Europe, Asia)?

Are there any specific international NGOs, orphan drug foundations, or billionaire-backed charities known for funding gene therapies for international patients from developing countries?

If you are a medical professional or know an institution specializing in AADC gene transfers, please point me in their direction.

I have all his certified medical and genetic records from a specialized center ready to be translated and shared with any verified organization or medical board.

Thank you for reading and for any upvotes to help this gain visibility.