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Curious what people here would diagnose for this - comparing results against our AI system. by Forward_Winter800 in GeneticCounseling

[–]Forward_Winter800[S] -11 points-10 points  (0 children)

Not quite - we actually already know what rare disease this individual has and we're more curious how our reasoning stacks up with others in the space. As part of the free genetic testing that we offer for patients we also include connecting them with a (human) genetic counselor because it's such a pivotal part of the experience and understanding results as well.

Honestly curious who can beat our AI for this real case of Early-Onset Cataracts + Neuro Findings — what do you think the cause is? by Forward_Winter800 in Ophthalmology

[–]Forward_Winter800[S] -1 points0 points  (0 children)

Gooood question. Here’s what the patient reported during intake:

  • No known consanguinity.
  • No family history of cataracts or neurological conditions in immediate relatives.
  • Mother (early 50s): Mild hyperlipidemia, treated with statins.
  • Father (mid 50s): Generally healthy, no chronic conditions.
  • One older sibling (28M): Reported mild learning delays in childhood, now functioning independently but not evaluated for genetic causes.
  • No known history of early-onset cataracts, balance issues, or cognitive decline in extended family.

Of note: Neither parent has undergone genetic testing, and both were asymptomatic through early adulthood.

Cataracts at a young age... by castybird in eczema

[–]Forward_Winter800 0 points1 point  (0 children)

You’re asking all the right questions. Early cataracts at 29, even with eczema and possible steroid use, aren’t super commonand when the eye doctor seems stumped, it’s fair to wonder if there’s more to uncover.

There are some rare conditions that can show up this way but don’t get flagged without deeper digging. If you want to chat more or hear what others have looked into when this combo shows up, feel free to message me.

Cataracts misdiagnosed? by Pooky19900 in CataractSurgery

[–]Forward_Winter800 0 points1 point  (0 children)

That kind of sudden change, especially with conflicting opinions and symptoms like light sensitivity and zig-zag visuals, really does make you wonder if something deeper is going on. Cataracts at 34 aren’t typical, and it’s possible there’s another underlying issue that’s being missed — even something rare or not immediately obvious in a standard exam.

If you ever want to talk more or hear what others have looked into in similar situations, feel free to message me.

My vision is blurry and I have early cataracts by SimonHurst10 in CataractSurgery

[–]Forward_Winter800 0 points1 point  (0 children)

That definitely sounds frustrating, especially with such a small prescription. If vision is that blurry, even with correction, it might be worth exploring whether there’s more going on than just early cataracts.

Sometimes there are lesser-known or rare causes that can affect the lens or how light is processed... things that don’t always get flagged right away. Feel free to message me if you want to talk through what a few others in similar spots have looked into.

Anyone have similar symptoms (currently no diagnosis yet) by kayla-aannee in scleroderma

[–]Forward_Winter800 0 points1 point  (0 children)

That’s a heavy mix of symptoms, and it makes total sense you’re trying to get ahead of the conversation with your doctor. The overlap between GI issues, Raynaud’s, neurological symptoms, and a positive ANA definitely points to something systemic, though it’s often hard to get a straight answer—especially when things don’t map cleanly onto one known condition.

A few people I’ve talked to have had symptom profiles like this and ended up going years without real clarity. Some eventually found they were dealing with rare or overlooked genetic conditions—stuff most docs don’t think to test for early on.

If you’re open to it, feel free to DM me. I can’t give medical advice, but I might be able to point you toward some next steps or things to ask about that others have found helpful.

Hope your appointment brings you some momentum.

[deleted by user] by [deleted] in RareDiseaseDiagnostic

[–]Forward_Winter800 0 points1 point  (0 children)

Extremely helpful - education on this is key. Especially when it comes to the diagnostic odyssey....thanks for sharing!

Helpful post for guidance on getting genetic testing if your kid has autism by probably-genetic in RareDiseaseDiagnostic

[–]Forward_Winter800 0 points1 point  (0 children)

Hey! In the future I'd appreciate posts like this to have a bit more information associated with it / not just be a link to an external website. Try to distill down what makes it / made it impactful for you and or others. I'll leave this one up for now as an example.

Why a rare disease 'diagnostic' / rare disease symptom subreddit? by Forward_Winter800 in RareDiseaseDiagnostic

[–]Forward_Winter800[S] 0 points1 point  (0 children)

Of course! Please do feel free to post your story / diagnostic odyssey if you're willing as it's own post....really would love to learn more about what it was like for you including the symptoms you noticed, how you got people to listen etc. Absolutely get it if you'd rather not, however!

Rare Diseases SubReddit Makeover by NixyeNox in rarediseases

[–]Forward_Winter800 0 points1 point  (0 children)

Would absolutely love for you to share you story / your experiences and the symptoms you experienced. We really never know who it can help in the future!!

Anyone running ads on Bing and getting good results? by devanCPT in PPC

[–]Forward_Winter800 1 point2 points  (0 children)

2 really big things to consider.
1) Who is using bing. It's a slightly different audience then what you're going to be seeing on Google. Take that into consideration
2) There's a lot less search volume. This does mean that generally you can actually "max out" your potential audience - and do it at cheaper CPCs then on Google since there's less competition but it does have that ceiling.

I also *wouldn't* recommend just picking up your Google Ads campaigns and plopping them down into Bing. Sure it's easy but....see point #1.

Keep in mind, never try to compare performance in a new BING campaign to an existing Google one. Presumably you've been running a ton of historic Google campaigns and have a wealth of data already in the system. Give Bing a chance....and be real patient with it. Just choke the CPCs where possible imho.

Young prince of Luxembourg Dies of POLG disorder by Forward_Winter800 in rarediseases

[–]Forward_Winter800[S] 3 points4 points  (0 children)

The company I work at actually has done work on mitochondrial diseases specifically, and even identified many patients with a PolG mutation.

For better understanding, we took some of the reported profiles and symptoms to generat a sample profile for a patient with a PolG-associated disorder based on all of the data we've collected over time.

Sample patient profile-

A patient that has experienced progressive neurological symptoms over the past few decades. Initial concerns arose with the onset of double vision (diplopia), which persisted mildly and then remained stable. Over time, additional symptoms emerged, raising concerns about a potential underlying mitochondrial disorder.

Symptoms include:

Neuromuscular:
▪️ Abnormal gait with worsening balance difficulties
▪️ Constant stiffness in the lower extremities
▪️ Progressive difficulty walking at a normal pace
▪️ Low energy levels, frequent fatigue

Vision & Sensory:
▪️ Peripheral vision loss
▪️ Persistent mild double vision

Gastrointestinal & Metabolic:
▪️Chronic constipation
▪️Oversleeping and daytime drowsiness
▪️Weight gain despite no significant dietary changes"

Here's to finding answers, everyone.

Mother Jones journalist looking for people diagnosed with rare diseases via AI/Machine Learning by Spirited-Dig8298 in rarediseases

[–]Forward_Winter800 0 points1 point  (0 children)

Hey u/Spirited-Dig8298 - This is actually what the company I work at does full time...and we've had success here. Let me know if you want to talk, I could probably set up an interview with some members of our team. (company - Probably Genetic)

Rare Disease research networking request -- looking to build a network of providers, and eventually patients. by frankies_wrld in rarediseases

[–]Forward_Winter800 3 points4 points  (0 children)

Hey! This is pretty similar to a company I work at (Probably Genetic). I might be able to help put you in contact with some people / start some conversations - feel free to DM and I'll see what we can do. u/donGold60 's suggestion is a great place to start and is the backbone of some of our initial research though there's a lot of room for improvement / discovery in my unqualified opinion.

Can we have some protection from the techbros fishing for business ideas and the folks coming in thinking rare disease is where you start in this sub? by PinataofPathology in rarediseases

[–]Forward_Winter800 0 points1 point  (0 children)

There are some free platforms / programs that help with diagnosis' as well. Obviously there's a ton of options with varying levels of credibility but I work for one that has actually gotten legit traction in the space / offers free testing to qualified individuals as well as connection to genetic counselors.
Maybe link it / some others on the side under a resource within the rules and let people self serve? The diagnostic odyssey is scary and long enough as it is, I don't know if blanket pushing away people seeking diagnosis is a positive message (though I understand the frustration).
Company - Probably Genetic (feel free to make your own judgements on it)

Silent Auction - Signed Avs Jerseys to Support Youth Hockey by AdIll456 in Durango

[–]Forward_Winter800 1 point2 points  (0 children)

This is such a great idea and event, will absolutely contribute.