u/Counter-Business

Hi all, just wanted to share this story of how I was misdiagnosed as type 1. I hope some may find it interesting.

Diabetes seemed to run in my family, and atypically. My father and grandfather were both diagnosed as type 2 and had no weight or insulin resistance issues. Metformin did not lower their a1c. I knew my fasting sugars had been high as early as 7 years old when my dad tested my sugars in his meter so I figured I probably had whatever they did.

Through a blood test at age 19, we saw my fasting sugars were high and I got referred to an endo. I thought I had type 2 like my dad and grandfather so I dieted and exercised very hard to try to lower blood sugar. I did keto diet but still had a1c of 6.6 after doing keto for months. Nothing seemed to work.

Upon presentation to my endo, he told me the GAD antibodies were negative but because my keto diet didn’t work then it can’t be type 2. He told me there are other antibodies he did not test for which can cause type 1 so from now on I should quit keto to prevent possible DKA and live the rest of my life as a type 1 diabetic.

I did this for 3 years. At age of 23 I questioned my diagnosis and my families diagnosis. I looked up whether diabetes can be genetic. I discovered MODY which there are 14 different genes that can cause diabetes. Most often Mody is misdiagnosed as either type 1 or type 2. They have different presentations depending on which gene is mutated. For my specific situation I was MODY 2.

I talked to my new endo and ask about Mody. She agreed to test my c peptides to see if my body was producing insulin. It was. She also tested other antibodies. All negative. Genetic test revealed Mody. I was able to come off of insulin completely.

This is my story hope you find it interesting.

Looking at keep trade cut, the 48th best rookie has a value of 552, he is the TE 69. Ok so the 4.12 is worthless.

What about the 4.01 Deion Burks WR 167 value of 953 ok so 4.01 is worthless.

Ok what about 3.01 the RB 59 at a value of 2300. Ok this is still not even the highest player available on waivers atm. So 3.01 is borderline useless too.

The 2.01 the RB 36 has a value of 2952 which is ok but not a difference maker at all.

Why is the draft so much worse this year than last year? What happened.

Hi all,

I’m not sure if anyone can relate but if so I’d like to connect because I feel pretty alone right now. One of the hardest things about having a rare disease is that the medical community doesn’t look out for you by default. You have to initiate every bit of help you’re going to receive. There’s no specialist whose job it is to think about your specific condition. You have to find them, pitch them on why your case matters, and convince them to engage.

I have a rare genetic disease that I’m convinced science hasn’t fully figured out yet. Most people with my mutation have a mild version of it, so the whole condition got classified as mild. But it was only ever looked at through one field of medicine, and that field said it was mild in their context. The thing is, the gene I have a mutation in is expressed in different cells throughout the body, including the brain. Each cell type that uses this gene has a different consequence when the gene isn’t working right. The field that classified my disease wasn’t looking at the brain. They were looking at one organ.

My body has compensated for my mutation in some ways. But the way that compensation works doesn’t reach the brain because the blood brain barrier rate limits how much of the relevant substance can get through. So the body has adapted but the brain hasn’t. There’s a structural reason for that and it’s been bothering me for a while.

What I’ve been finding as I dig in is that my disease probably affects the brain through two connected pathways. Some of the cells in my brain, including certain immune cells and certain brain cells, depend on a single metabolic pathway to function. With my mutation, that pathway runs at reduced capacity. So some of these cells are underfueled, which stresses them. Stressed cells release inflammatory signals. And the immune cells that would normally clean up that inflammation are themselves running on the same compromised pathway, so they don’t work as well either. It ends up being metabolism affecting the immune system and the brain at the same time, with each problem feeding into the other. Each of those connections is in a different field of medicine. The intersection of all three is a tiny new field called neuroimmunometabolism. It only really emerged in the last several years and there are maybe a few dozen researchers worldwide working in it. My condition was written off as mild decades before this field even existed. Nobody has gone back to reconsider whether the original “mild” classification still holds up given what we now know about how metabolism, immunity, and brain function are connected.

I have a family member with the same mutation who has progressive neurological disease that doesn’t fit standard diagnostic categories. The standard treatments haven’t helped. Looking at the imaging and the clinical picture together, I think there’s a good chance the neurological disease is connected to our shared mutation through this metabolism-immune-brain pathway. But I can’t prove it yet, and the medical specialists I’ve reached out to mostly aren’t in a position to evaluate the connection because each one only sees their part of the picture. I am scheduled to see a neurologist, so we should be able to see if I show any signs of damage too which should strengthen my hypothesis. Even if the imaging is clean, that wouldn’t necessarily disprove anything since this kind of damage typically takes decades to show up. But I definitely have neurological symptoms so I am fully anticipating that a mri will help to prove my case further.

So I’m doing a lot of the connecting myself. Reading research papers across fields. Reaching out to researchers directly. Finding the few people who do work at these intersections. It’s slow and lonely and I’m not always sure I’m right. Every few weeks I make another connection that was previously known to science but not connected to my disease. I’m starting to understand the full picture of the damage mechanisms and potential rescue mechanisms. The good news is that most of the researchers I have connected with are taking me seriously and I have facilitated some research connections. One researcher is even expanding the scope of a clinical trial to explore one of my hypothesis.

I’m posting because I want to find other people who are researching their own conditions. People who have hit the limits of what their assigned specialists can offer and are doing the connecting themselves. What’s working for you, what isn’t, how do you keep going when the medical system isn’t designed to help with what you’re dealing with.

PS - I am not going to mention the name of the disease as I am still researching this myself and I don’t want to suggest anything that could lead someone with the same condition to self-treat before the facts are in order.