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sendnewt_s t1_j89p2cy wrote

There is a rare disease called Sanfallippo syndrome that is often referred to as Alzheimers for children. It starts in the first few years of life and is remarkably similar in its effects. One of the most painful things in life is to watch someone you love slowly amd painfully deteriorate

Sanfilippo syndrome - Wikipedia


Wersus_Invictus t1_j8acmnq wrote

Niemann-Pick type C is also reffered to as Alzheimer for children sometimes.


fatesarchitect t1_j8glwba wrote

A friend of my tried for years and years to get pregnant. She got her miracle child, but within a few years her daughter was diagnosed with NP-C. It was awful to witness. She lost her only child in an absolutely brutal and gut wrenching fashion.


The_Mahk t1_j8ayhta wrote

Yep, worked with someone’s kid who has this. Sobering to hear anyone talk about knowing their son is going to die potentially before his 10th birthday with limited interventions available.


sendnewt_s t1_j8ayynd wrote

If the disease can be diagnosed before age 3 (which is extremely rare bc early developmental delays/differences are often misdiagnosed as autism) a stem cell transplant has a chance of slowing some of the physical deterioration. It is controversial bc it's very risky. It is the only intervention I know of.


moredinosaurbutts t1_j8bjiyx wrote

One one hand, it's a relief it can be diagnosed so early. On the other hand, misdiagnosis is horrible. Considering the fact that autism is severely undiagnosed and misdiagnosed, it really doesn't look good for this disease.


Cherabee t1_j8bztc7 wrote

would a stem cell transplant even do anything to someone with autism though? I'm not sure anyone has researched its effects on autism, probably because they live as long as a neurotypical. I could be wrong though. Regardless, misidentification is common and sad.


moredinosaurbutts t1_j8cxkdi wrote

Interesting question, an answer to that could be groundbreaking. I suspect some forms of autism could benefit. But then you'd have to question whether it was the stem cell treatment or if it was simply early intervention's psychosocial impact.

Life expectancy for autistic people is actually disturbingly low. Taking their own lives, being victims of physical assault, victims of the justice system, undiagnosed health disorders... it's a bit grim. Physically, there are few seizure disorders and other co-morbid physical ailments, but aside from that they are indeed physically normal.


jendet010 t1_j8e5h30 wrote

People do them and most go to clinics out of the country. They may have anti inflammatory properties that reduce symptoms to some degree temporarily. The risk is high and published evidence is lacking.


livelylilac703 t1_j8cd071 wrote

How is it a relief for a child to be diagnosed with a fatal disease that, on average, won’t allow them to live past adolescence? And even then, the quality of life is an absolute tragedy. The brain starts deteriorating before it’s even had a chance to develop causing the entire body to slowly shut down over time because the brain stops sending signals for basic functions like digesting food and the ability to move. I work with parents of an individual with Sanfilippo, who was first misdiagnosed as autistic, and also received the stem cell transplant a few years ago and it sadly had no positive effect. This child just had a birthday and according to their doctors it will almost definitely be their last. When you see the horror of the disease firsthand you realize the diagnosis, early or not, translates directly to early death. No child or family deserves that.


Theletterkay t1_j8cggi2 wrote

The relief is that there are tools to help diagnose it early enough for intervention. Otherwise a child developes these symptoms and its just death and suffering.


moredinosaurbutts t1_j8ci5co wrote

Thanks, this is exactly what I was clumsily attempting to communicate. There may be more peace with a late diagnosis, but by then you've been robbed of any chance. Better a small chance than none at all.


livelylilac703 t1_j8g7x1i wrote

I don’t mean to sound aggressive in my responses but even with intervention, there is no cure and it’s fatal. Intervention may slightly increase life expectancy, but even then, imagine an individual who is stuck in the body of a teenager but their brain is so deteriorated they can’t walk, talk, sit up, communicate, eat, or drink. That’s what happens at the end when you’re looking at this disease, intervention or not. I pray they find a cure.


Theletterkay t1_j8gn9cx wrote

But without being able to diagnose it, you may live wondering what you did to cause it, or put the child through many painful or traumatizing treatments, thinking you are helping, but really you are just wasting their time with added suffering. With diagnosing you know what it is, and you know there arent any cures. So you can focus on comfort for them and helping them enjoy any amount of life possible.

And, yes, I absolutely do know the disease well. My sister in law is a home care taker of the only known family to have 2 children with the disease. One is 15yo now, the other is 11yo. And while its true they cant do or communicate much, they smile and enjoy her company. They snuggle with her for movies, which they have favorites they enjoy. They have favorite foods, which they get spoiled with often. If they get excited about something, their parents and caretakers go out of their way to make sure they make those girls happy and fufilled. Diagnosing keeps those girls out in the world rather than cooped up in a hospital hoping to find a cure that doesnt exist. That's definitely worth something.


Historical_Tea2022 t1_j8b4cwq wrote

The book When Bad Things Happen to Good People was written by the dad of a 14 year old that died from a rapid aging disease. They knew when he was 2 years old that his life would be very short. Heartbreaking


Serious_Guy_ t1_j8byxdc wrote

April Fool's Day is a book written by Bryce Courtenay (Power of One author) about his hemophiliac son who contracted HIV from a blood transfusion back when very little was known about it. Highly recommend.


_trouble_every_day_ t1_j8dfsok wrote

The headline alone is ridiculous. It should be self evident that a single case doesn’t overturn the perception of anything being rare.


thebelsnickle1991 t1_j89an7j wrote

The kid is 19 years old. Saddening.


houseman1131 t1_j89mhr7 wrote

Heard it goes faster in younger people too. Like people who get early onset Alzheimer's in someone's late 50s early 60s goes faster than someone who is 75 and gets it.


moredinosaurbutts t1_j8bjxzr wrote

Awful! I wonder if it's linked to their rapid brain development? I guess it makes some amount of sense. If the brain is deteriorating, the brain creates new pathways - but if those pathways weren't already there, or they were highly fluid and evolving, then all it does is contribute to faster cognitive decline.


SerialStateLineXer t1_j8blsqu wrote

It's probably just that the more aggressive degenerative process needed for onset at a young age also leads to faster progression.


moredinosaurbutts t1_j8bovn8 wrote

True, hadn't considered that. The article does mention that it raises the possibility of Alzheimer's originating in adolescence before late adulthood. So perhaps this is merely very aggressive phenotype as you suggest.


SerialStateLineXer t1_j8c8hox wrote

It's worth keeping in mind that most common neurodegenerative diseases are syndromes: clusters of diseases defined by symptoms and certain aspects of the disease process rather than by root cause. Even Huntington disease is actually a class of genetic mutation rather than one specific mutation: a sequence of three nucleotides is repeated many times, but the number of repetitions varies and affects the severity and age of onset. There are dozens of different mutations known to cause ALS, and severity, age of onset, and specific symptoms vary accordingly.


Harsimaja t1_j8i8ps5 wrote

The people who cross the 1 mile mark in a marathon first are also more likely to get from the 1 mile mark to the 2 mile mark fastest. The causes - buildup of tau proteins and/or whatnot - are probably developing faster in general.


Timmy24000 t1_j8a5pic wrote

People with trisomy 21 (Downs) almost always get Alzheimer’s disease early. Usually in their 40-50’s


BlueEyedDinosaur t1_j8bufgl wrote

I read about this on Reddit a while ago and I think it’s the saddest thing I’ve ever heard.


MommysHadEnough t1_j8dadh5 wrote

There’s Alzheimer’s all over my mom’s family, and she has one copy of the gene for early onset, though she’s 77 and doesn’t have it. My daughter has Ds, and I have a mild form of dementia from MEcfs/Post Viral Syndrome, similar to (if not the same) what happens in Long COVID. I haven’t been tested yet for Alzheimer’s, but I’m sadly aware that my daughter will very likely begin to develop it around 30. The genes for Alzheimer’s are located on that chromosome that is duplicated in Ds.


2manyfelines t1_j8dsqn5 wrote

My daughter is an ICU nurse in a long term care facility. She has a long of patients with Downs Syndrome AND long COVID.

One of them had noticeable dementia at 31. So sad.


hellomondays t1_j8e9tb3 wrote

It's worth mentioning that Auguste D. the woman from the case study that would lead to the "discovery" of Alzhiemer's was only 50 when she first became ill. Even from the start of scientific inquiry into this disease, there's a lot more going on than just old age.


stewartm0205 t1_j89xzjp wrote

A single incident would show its rare.


jxyzptlk t1_j8a5l83 wrote

OP worded it poorly, here's the stuff (posting from phone so formatting might be off):

"Almost all Alzheimer’s disease patients younger than 30 have pathological gene mutations, according to the authors. To date, the youngest person known to have been diagnosed with Alzheimer’s disease was a 21-year-old who carried a gene mutation.

But the adolescent patient of the most recent study differed from previous young patients because no known genetic mutations were identified in the 19-year-old who was diagnosed in China."


0002millertime t1_j8bd0dw wrote

Well, all new mutations were once unknown mutations. It'll be interesting to see if they can track down the cause.


zeugenie t1_j8bm00g wrote

Which may or may not be a gene mutation


Not_Stupid t1_j8bp2kq wrote

Are there any known environmental causes for degenerative neurone diseases?


-downtone_ t1_j8cwft5 wrote

The chance of having ALS grows significantly for combat wounded vietnam veterans. My line had no issues. Father got hit w 8 rounds and had leg blown off. Died of ALS at 58. I had muscle issues from birth along with REM Behavior Disorder. Guess what happened? I have it now but w no support from anyone. It's awesome.


_trouble_every_day_ t1_j8dgv3e wrote

OPs title is the first sentence in the article. I guess we can blame OP for posting this particular article but good luck finding coverage of medical research that isn’t sensationalized to rake in clicks.


moredinosaurbutts t1_j8bkj7x wrote

Quite possible. However, Alzheimer's and research is nascent, highly controversial, and full of fraudulence. It could be a tip of the iceberg.


Yotsubato t1_j89m9u6 wrote

Wow this is scary.

Surprising he didn’t have Down’s syndrome either. Which is known to lead to Alzheimer’s at like age 40.


sendnewt_s t1_j89ok17 wrote

I didn't know about that correlation, how cruel that is.


lamya8 t1_j8b6mrd wrote

Yea unfortunately with Down syndrome and Autism some are at higher risk to onset some really terrible comorbid conditions and higher risk to certain neurodegenerative diseases with age. Which is why we need the research so much and for people to stop fear mongering research.

We were told by doctors our son might be at higher risk to develop seizures as he gets older and so far he hasn’t but you know what would be great would be if we could figure out why some people on the spectrum have that increased risk and ways to treat or prevent it from happening.


BlueEyedDinosaur t1_j8bu9vf wrote

I have seizures that are well-controlled. It’s not the greatest thing but it’s also not the worst. I have an autistic son and I assume his disease will follow the same progression as mine. At least it’s less scary to me. Just wanted to offer you a bit of hope that life with a seizure disorder can be ok.


BBQ_Beanz t1_j8c1bm5 wrote

I have seizures and memory trouble from a brain injury and i also have autism. This thread is waving all my red flags for early Alzheimer's...


Wagamaga OP t1_j89ahnd wrote

Chinese researchers have reported what they claim is the world’s youngest person diagnosed with Alzheimer’s disease, which may overturn the conventional perception that cognitive impairment rarely occurs in young people. A 19-year-old male was diagnosed with probable Alzheimer’s disease after his memory declined gradually over two years, according to researchers from Capital Medical University’s Xuanwu Hospital in Beijing. The authors said the patient had characteristics typical of Alzheimer’s disease, including memory loss and hippocampal atrophy, a shrinkage that is an early marker of the disease.


Donkarnov t1_j89dtl9 wrote

"Rarely occurs", only one case of a 19 ys old with alzheimer in recorded history.

Still looks like something that RARELY occurs.


Fleinsuppe t1_j89hj3o wrote

rare in young, in dementia scale that's 20-40's


sockalicious t1_j8c9qdb wrote

They didn't even do amyloid PET. There are a long list of disorders that cause neurodegeneration in young adults and don't involve AD pathology.


zuckerberghandjob t1_j8bik9r wrote

Um sciencebros can we trust an autocratic regime to decide when someone has lost their memory?


slickhedstrong t1_j8bm9xe wrote

"wow a lot of young chinese people are losing their memories to the point that it would be suspicious if we still considered it a rare happening"


coffie-and-wifi t1_j8aaiko wrote

The youngest I’ve ever taken care of was 60. When guests would come to visit their loved ones at the home they would mistake her for staff. It led to some confusion to say the least. Sad to see such active, vibrant people be mentally crippled by this disease.


cranberries87 t1_j8al99t wrote

I knew a couple of elderly people who did not have it, but one of their children did. One woman was actually caring for her daughter with the disease. Really sad.


kmurph2 t1_j8dm4j0 wrote

My aunt was diagnosed at 54 with two teenagers - it’s brutal. Thank you for what you do


PricelessCuts t1_j8ajsy5 wrote

It may overturn that it rarely occurs because it did once? Struggling to follow


Abominatus674 t1_j8ap3uz wrote

Whoever wrote this title is an idiot. A single outlier case in no way changes the fact that early life cases are ‘rare’


moredinosaurbutts t1_j8blahh wrote

Not an attack, just curious - did you draw that conclusion from the study itself? How do we know it's rare if we don't cast aside the preconception that it's rare?


slickhedstrong t1_j8blwke wrote

it would take a mountain of instances to make it even 20/80. and that's a generous benchmark to dq a description as a rare occurrence.


EasternAssistance185 t1_j89vdxv wrote

What becomes of these people? They just live in a vegetative state for 60 years? I think it should be legal to euthanize people in advanced states given consent by families. I know I’d never want to live that nightmare and put my loved ones through that.


mynameisneddy t1_j89xdhw wrote

The person eventually loses the ability to swallow as the disease progresses (speech and cognition are long gone). I guess you could keep them alive for a while with tube feeding, but that’s not normally done.


EasternAssistance185 t1_j8a4j9g wrote

Terrible. They should be out out of their misery the moment they no longer have cognitive abilities and are basically goldfish… what a nightmare.


Jolly-Independence64 t1_j8avgjs wrote

From a standpoint of saving resources yes they should be. But these people aren’t suffering anymore. Their brain is so far gone that I imagine being bored isn’t something they have to worry about. If you can’t talk, or even swallow anymore, then I doubt you still have a functioning consciousness.


scotty_dont t1_j8c8oll wrote

Generally they lose the ability to swallow correctly. This leads to food aspiration which leads to infection. This becomes a cycle. Eventually (perhaps the first infection) families will choose not to treat and they will be kept on morphine as everything shuts down.

You could make more and more drastic interventions but at that point there is nothing of the person you knew remaining and there is no “better” way for them to die on offer. You will have a few days notice for loved ones to say their goodbyes and keep vigil if they want.

Unfortunately we don’t know how to do non-voluntary euthanasia. It’s just not a system we have figured out as a society/species. “Family consent” is hiding a lot of cost/complexity/trauma under the surface. The “decision not to treat” is effectively a soft form that offloads a lot of the complexity. So you need to present a cost/benefit analysis of how to move that date up and by how much. A much more traumatic process that only speeds things up by a few months probably isn’t worth it, but the earlier you aim for the more of the person remains.


EasternAssistance185 t1_j8canev wrote

Easy to see why Robin Williams took matters into his own hands.


scotty_dont t1_j8cf7i2 wrote

Absolutely, I would not go out that way. We have figured out systems for elective euthanasia, but it isn’t obvious to me that they are better than diy. Failure is definitely a concern, but low risk methods exist


Kuyi t1_j8acf1j wrote

Isn’t it still rarely when they found one young person? So there is nothing to be overturned :S


itakepictures14 t1_j8ajob3 wrote

Why would one case change our belief that cognitive impairment rarely occurs in young people?


jussumd3wd t1_j8asjdc wrote

That still sounds super rare. How would that overturn anything?


Rain1dog t1_j8b0nej wrote

I had a friend who I worked with who had Alzheimer’s develop when he was 45 years old and died from it when he was 47.


iamnogoodatthis t1_j8aixtc wrote

How does one exceptional case change a view that such a thing is rare? It shouldn't do.


Dr_Icchan t1_j8c9kf3 wrote

pollution was probably a factor.


slickhedstrong t1_j8blia4 wrote

this would still qualify as rare, that's an overzealous conclusion.


ImmortalGaze t1_j8c4j5y wrote

Actually it would seem to uphold the notion, not overturn it.


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teambob t1_j8anf2b wrote

I'd be interested to know what the MRI uncovered


candornotsmoke t1_j8b4ngs wrote

I would be very curious, after the patient passes, if they get a brain sample for analysis. I wonder if this is a prion disease.


Alleycat_Caveman t1_j8c5vry wrote

I read, or maybe heard somewhere, that degenerative diseases like dementia, and more specifically, Alzheimer's actually take root quite early in life. Once the early symptoms start to pop up, it's already too late, and there's already quite extensive brain damage.


Crazy-Cheesecake-945 t1_j8c6dzk wrote

I used to work in mental health in the Army. We had a kid in his early 20’s who developed dementia. Smart kid with a lot of talent and knew a lot about everything and then as the sun went down it was a whole other story. One of the few active duty soldiers being prescribed medical marijuana in pill form because it helped with his symptoms as he was stuck in the psych ward full time.


cool_weed_dad t1_j8cphtr wrote

My dad has a friend who got early onset Alzheimer’s in his early 50’s. My dad used to take him skiing but he eventually got so bad he couldn’t even figure out how to put his helmet on. After losing him a couple times because he got confused he had to stop taking him.

My dad is in his early 70’s and looking at the two of them you’d think they were the same age. Losing cognitive function like that ages you extremely fast.


Snoo_24930 t1_j8cw8te wrote

I grew up with a person that was one of the only ppl to get that COVID related Kawasaki disease. So that reveals the hidden truth that every young person gets this particular disease. No this is a edge case still most Alzheimer's cases are above 65


megasmileys t1_j8cxs1x wrote

Forgive me if I’m wrong but isn’t that title “something happening for the first time challenges the idea that thing doesn’t happen much”


theory_of_crows t1_j8dkau3 wrote

I’m curious about the fact there’s no consideration given to COVID in light of the suspected neurodegenerative effects of the disease.


W_AS-SA_W t1_j8dt0oa wrote

Sounds like the 19 yo kid down the road who had Covid in 2020 and then again in 2021 was intubated for two weeks. Now he shows up on our porch lost at 3pm.


Denamic t1_j8dw71g wrote

That they found a rare case doesn't dispute that it's a rare occurrence


Trilleon2510 t1_j8dy59v wrote

I know tons of cognitively impaired young people. Old news.


Person012345 t1_j8e3sk3 wrote

If I am reading the title of this thread right, the existence of a *single* young individual with alzheimers is about to "overturn" the idea that alzheimers is "rare" in young people?

Am I supposed to take this article seriously?


Sensitive-Ad-5282 t1_j8i43mx wrote

The fact this is news confirms it is rare is young people


Harsimaja t1_j8i8fo5 wrote

One person may overturn the perception that it’s rare…?


banan3rz t1_j8aki8s wrote

My uncles wife was part of a PBS special discussing early onset Alzheimers.


liquid32855 t1_j8aw5t4 wrote

I very likely saw the program. Love PBS and Nova. I'm(40) caring for my grandfather (79) who has vascular dementia. Mild right now.


banan3rz t1_j8cdtwf wrote

Her name was Debbie. I never knew her, as she passed when I was very young. Now there is a genetic test for it, but some of my cousins have had it and some haven't. Most already have kids.


[deleted] t1_j8av3qo wrote

Seems like a weird interpretation considering young people get all kind of mental conditions. I guess you're just not defining like depression, manic behavior or schizophrenia as cognitive impairment.... which comes of sounding weird to the layman perhaps?

I'm not surprised that a young person who can get schizophrenia can get Alzheimer's and have like this one reported cases shouldn't change perceptions much. That's how I interpret it at least. Plus you have young people born with learning disability and who get brain damage, it's not exactly an alien concept that young peoples minds get damaged very similar to adults.


BassLB t1_j8b0sc9 wrote

If it took this long to find it in a young person, wouldn’t that mean it’s pretty rare? Or they weren’t looking


Bigl1230 t1_j8bralw wrote

Hmmm... wouldn't it still be rare tho?


WallStLegends t1_j8bv57c wrote

“Discovered first patient…” “may prove it is not rare”


gliffy t1_j8c3j6x wrote

I mean 1 person still seems pretty rare.


Evanecent_Lightt t1_j8amr29 wrote

I'd be skeptical of any reports coming out of China..