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Any updates? I think WGS is extremely interesting for, especially with the use of AI. A new world. I imagine that more and more hospitals will use it as WGS is becoming very cheap, and with the AI revolution. How many could find out why they are sick? Either through a definitive pathogenic...

I tried it. No effect. I have genetic variants in OGDH which is essential to the Krebs cycle (I also have possible high impact variants in SLC25A5/ATAD3A)

I would use Franklin Genoox. The University Hospital here use it. It is free. Upload your VCF. Add phenotypes (i.e muscle pain, fatigue and so on). You also need to adjust the allelle frequency (you don’t want to se common variants), then go to prediction and then you can look for variants with...

How did this turn out?

have you done some more research? I have been referred to the mitochondrial and neurological unit. They looked at my results and were very interested in the SLC25A5 (and ATAD3A and SCN4A). One ME study found that SLC25A15 was something that many patients had findings in. I use ChatGPT 5.0, and...

Most people with ME doesn’t move that much. On average patients would move more if they are significantly better. Perhaps one person won’t, but on average you would see people moving more. Not particularly relevant, but I go much worse, then improved some and went back to uni. Average steps...

I think if you do what you can to exclude the noise and do what I did, your doctor is obliged to refer you to a geneticist, or to someone that can order a proper test. They can do a Sanger test (gold standard). SLC25A5 is linked to mitochondrial disease that leads to many ME symptoms, so if you...

Yes, thanks, I’ve used it before. None of my key SLC25A5 or ATAD3A variants showed up there. I think that’s partly because GenVue (understandably) applies fairly strict filters to avoid false positives – especially in regions with gnomAD coverage issues or failed VQSR. That’s useful for general...

Are your test 10x? Do you know? I paid extra for 30x for increased depth. I also have several mutations in that gene, but many of them are very common… There are tools you can use to check how good the data are, but the easist way is probably to just upload the VCF (or just a part of it via...

Hi wiggle, thanks for the reply – super helpful! Yes, I’ve noticed the same warnings in gnomAD v3.1.2 for all three variants – the low coverage and failed VQSR makes this region a bit of a minefield. But I’ve confirmed all three variants visually in IGV using high-quality WGS BAM data...

Have you tried a diet? People with CPT1/2 mutations and also different mutations in other genes need to follow a strict diet. MCT is often used. Yes, I have some strange variants in SLC25A5, but one or two of them are normal for 4% of the population. But I do have some very rare variants too. I...

Thanks for sharing this — I completely agree, especially with how difficult it is to interpret compound heterozygosity or heterozygous variants in poorly understood genes. I’ve gotten a lot of help with ChatGPT/GenomeGPT. What’s particularly intriguing is that I experience a dramatic (though...

Hi everyone, I’m a a male in my 30s with ME/CFS (diagnosed in 2012 using ICC criteria), now mostly housebound with severe post-exertional malaise (PEM), disabling muscle pain and cramps (especially in the thighs), and profound fatigue. After years of inconclusive testing, I recently did whole...

Has anyone else tried memantine/dxm/or ketamine? Looks very interesting to me against pain.

I think that the use of AI can propel us forward. Statements and conclusions should of course be checked out, but if we exclude the use of AI to improve our understanding of the disease and also discuss possible treatments as patients, then I believe we lose out. That it is it from me. If anyone...

I know that. That is why one should check whether what it says are sound, including sources. Great if we could stick to the question.

Everyone should of course be skeptical and they should consult with their doctor. That is a given. ChatGPT’s «point» is that alcohol is a very potent NMDA inhibitor. DXM and ketamine are two other drugs with the same effect. Dxm tablets are sold OTC in many countries, so I reckon that the side...

Has anyone tried DXM? Not sold OTC here in Norway. Alcohol helps me a lot, in particular against muscle/leg pain. ChatGPT suggested that it could due to the facts that ethanol is a strong NMDA inhibitor. ChatGPT suggested DXM and even ketamine too!

Does anyone know if any private clinic in Europe is offering IVIG to patients with ME?

For those who are benefiting from this drug and seems to lose effect after a while. How long break is needed? I felt good for 2-3 months when I started abilify. Gradually lost the effect (if there is any). Been two months without it. Feel like cr** now. Is it too soon to start using it and...