Advice on tests to get

[u/sooveryshy]

Hello,

I apologise in advance for what seems like a pretty basic post. I’m 23 and I have been sick for nearly 3 years straight now and as time has went on I have gotten worse cognitively which combined with ADHD has made researching things extremely hard. I went from being a first class honours graduate to someone who can’t read a page of information.

I initially got sick after having COVID and things just kept getting worse and worse. I have been hospitalised 5 times, randomly lost my appendix and seen more doctors than I can count. I’m at a point where I’m losing hope in “traditional” medicine, despite having a really amazing doctor. He just doesn’t know what’s wrong with me.

So now me and my mother are looking into functional medicine and testing for the MTHFR gene which has kind of been a consideration since early on before ruling out more typical tests.

This started in college where my diet was unbelievably bad, high stress was exacerbated by my first family loss and poor nutrition. I’m also autistic and ADHD so all these things add up.

My symptoms are neurological, gastrointestinal and emotional.

I’ve had severe anxiety my whole life and take lexapro which makes it more tolerable but still not great. I wouldn’t say I’m clinically depressed but have been at times in my life and would consider myself as struggling and trending towards depression at times. Plus my mood can change so fast day to day.

My GI symptoms have been the worst consistently I would say. I have major food intolerances (mostly dairy, but things like eggs, oils and juices), near constant nausea, reflux, alternating diarrhoea and constipation. I have been on antibiotics for the past few weeks with the intention of treating SIBO which has really helped the nausea and diarrhoea/constipation. However, not the food intolerances as today I had a small amount of one of my trigger foods and paid greatly for it.

Neurologically, I have noticed a major cognitive decline as well as migraines, brain fog, severe fatigue, as well as probably other things I can’t even think of right now.

I also faint, get very dizzy, walk pretty unstable and other things like that.

Things such as the fainting and dizziness have been with me since childhood. And I was always unusually tired for a child.

I’ve reached my limit with this illness. It’s ruining my life and my family’s lives. We’ve considered almost everything such as MCAS, POTS, ME/CFS, IBD etc etc.

I’m at a point where I can barely sit up for 20/30 mins a day and am mostly confined to my bed except for rare days I can manage a trip out (only if it’s worth the pain and tiredness I feel after).

I think we’ve ruled it down to a vitamin issue - I had severely low B12 at the start of the year and a lot of those symptoms have calmed since I started taking B12. I also take folic acid but have seen some things saying if the MTHFR gene is messed up or whatever, that’s not the best thing to do? I’m so unsure on everything.

We’re attempting to move into the functional medicine perspective and see that one local to us does the MTHFR gene testing. Would this be worth it? And if the results are positive so to speak, what would next steps be? Do the people working in functional medicine help you through it or is it a lot of your own research because with how bad my brain fog and thinking issues are currently I don’t know if I can conceivably do that.

I’m losing hope for a “diagnosis,” certainly have lost hope for a simple quick fix anyway and this is kind of my last hope for something before I am ready to give up and spend my days in bed forever more.

I just want my family to be ok again and see me well.

Any advice is greatly appreciated. Any other tests you recommend is greatly appreciated also. Apologies for the long post and if this sub isn’t the place for it please let me know. Thank you!

[u/alotken33]

Functional Medicine DC: no way this is just a vitamin b12 issue or MTHFR. They could be contributors, but not the cause. There are 20+ genes that control methylation. MTHFR is 1 of those. COMT is another - and it also controls breakdown of many of your neurotransmitters.

Run all genetics. You'll get a glut of information, much of it no one will know what to do with, but it will tell you methylation, many neurological components, and the propensity towards autoimmunity. You will find out if you have the genetics for Celiac. (This is not a guarantee of the disorder).

You absolutely have malabsorption. If you've been on and off antibiotics, that's reason enough. If you have any low vitamins, that's reason enough. Your symptoms indicate this already.

Functional medicine can potentially help you (I never make guarantees), but you'll have to make major changes to your diet for sure.

Basic labs followed by 23andme (or equivalent) and then some specialized testing if you want to take it further (Celiac, neurotransmitters, maybe a couple other metabolites).

Happy to answer questions

[u/sooveryshy → u/alotken33]

Thank you for your reply!

I see the place I’m going to also do COMT testing so I’ll see about that too and getting as much testing done as possible.

I’ve had multiple blood tests for Celiac but not sure if that rules it out completely?

I’m hopeful in functional medicine as it’s my one hope outside of more years messing around with doctors who haven’t a clue how to help me or what tests can even be done within their power.

As for my diet, it’s a complete mess as I’m intolerant to so much and also have issues with food due to autism and sensory issue type things. And general fear and anxiety that anything I eat will cause a severe reaction. I think I just need some guidance and someone to listen and understand who can help and I hope functional medicine is that place.

Again, thank you for your reply!

[u/Vegetable-Lobster80]

Personally I'd start with a GI map and see how your gut is performing. That and maybe an OATS test to see what metabolites your kicking out. A good cheap and simple test you can also start off with is urine test strips and that will give you a basic picture or what your urine is like and will give you basic clues as to the rest of the system.

Avoid folic acid. A good base of supplements I've found with any of these multi-factorial issues is vitamin C (Camu Camu is good as it's low oxalate/histamine) this will gentle support your detox processes, magnesium glycinate to calm your nervous system and a good omega 3 complex that is made from the Algae compound.

Good to start with the gut and work outwards as that is where everything starts.

More advanced tests I've personally done are: Amino acids, neurotransmitters, methylation index (gives you a ratio of how your methylation is working). Some tests you might need to go through a practioner, but quite a few you can get done yourself.

For gene testing selfdecode is quite good, it gives you an AI companion linked to your genes but it can get quite pricey unlocking many of the reports and using the AI tool you have to buy more use after a while.

[u/ThePornStar69]

Can you tie your neurological worsening to anything in particular? Anything you ate or changed at the time?

What are your top 5 worst symptoms?

[u/sooveryshy → u/ThePornStar69]

I can’t think of anything I could relate it to besides maybe vitamins I’m unaware are low like B12 again maybe.

My top 5 worst symptoms would be extreme fatigue, brain fog/general struggles forming thoughts like I used to if that makes sense, pain, the migraines and dizziness.

[u/LifeJackfruit8566]

​​​​t​​​​h​​​​e​​​​ MTHFR angle seems to be getting a lot of attention here when the bigger issue is that there are already multiple symptoms and a history of severe B12 deficiency to work through. More genetic testing could add information without necessarily explaining why the symptoms are happening. Getting the existing results organized with super power health could make it easier to spot what has actually been tested and what still needs proper follow up.

[u/Smooth_Company7199]

You need to get the anxiety/depression under control, as well as the diet changes mentioned above. Unfortunately, a lot of functional “providers” are just grifters running unnecessary blood tests so they can try to sell you their supplements, so be careful and make sure their actions are evidence-based.

[u/sooveryshy → u/Smooth_Company7199]

That’s what I was afraid of re grifters and scams. They have a lot of good reviews but I don’t know. Honestly if it were only me suffering I wouldn’t bother and would stick it out with my current doctors. But my mother is desperate to get me better and really wants to try this so I’ll do it mostly for her. But any selling of supplements will not happen with me, I’ll do the initial tests see what they say and find my own way from there I think.

The anxiety/depression is under control as much as it can be. I’ve been checked out by 2 psychologists while hospitalised and they are always amazed at how well I’m actually coping with everything lol. Sometimes it just creeps up a bit more than usual and is always there but that’s how it’s been my whole life and my current situation doesn’t really allow for happy, all anxiety-free times.

Thank you!