Where do I start?

// this is a dumping ground of notes, one day to turn into something more

Below is basically what Dr. Powers does for ~80% of new patients with this set of complaints along with custom labs based on specific complaints such as Vitamin D, autoimmune, thyroid, etc or anything highlighted by the genetic results.. The remaining 20% would revolve around what other issues they are having (like this completely omits my mast cell or IBS workups or other related things to MPS)

1. Get your genetics done.
2. Ancestry.com or 23andme.com is the cheapest way to get a lot of genetic testing done on yourself with somewhat decent accuracy. If money is no object, get a https://dnacomplete.com/ 100x whole genome.
3. The cheapest one is fine.
4. You can do this anonymously. Make a new email under a fake name, and send in the kit linked to that email, you can call yourself "lois lane" they won’t know. You give them all the info they have. Get the result, download the raw data.
5. Download your raw dna file
6. Genetic analysis
7. Upload the file into genetic genie under the methylation / detox / variant report.
8. Look for methylation defects in the B12 / Folic acid pathway, you probably have these, most of the hypermobile ones do if not all.
   1. My own fiance is a carrier for FKBP14 kyphoscoliotic EDS. Has a stop codon gain heterozygously. Should be "asymptomatic" according to EDS overlords. She's very clearly not. Had a ton of MTHFR and MTR issues. After starting her on a methylated B supplement 2 years ago, she's like 80% better, it's insane. She de-aged like 5 years. Took years for it to correct though as collagen has to be turned over.
9. If you need help understanding your DNA reports, plug the genotype result into chatgpt and ask it to give you a clinical explanation of each one, it does a decent job of this about 99% of the time. 1% of the time it confabulates nonsense, so double check its work always.
10. Get Lab work Done
11. Get the "CAH Steroid Panel" ordered for you at quest diagnostics
12. Get an ACTH and an LH/FSH so the doctor interpreting it can understand where you were in your cycle.
13. Estradiol, and my "androgens" panel which is basically all the androgens in the human sex hormone synthesis pathway.
14. I prefer to draw this 7-10 days after the last day of bleeding at peak on those who have hirsutism (like a hairy upper lip or something). You probably do if you report dysphoria. For those without sex hormone issues, it's less of a concern on timing.
15. On a normal, non-stressed out day, go give the blood in the morning.
16. If you have some synthesis defect, it will likely show up on this test.
17. Lab work analysis
18. Many MPS people have trouble making cortisol and end up making a bunch of androgens when they are stressed out. As a result, I often see young cis women in their 20s and 30s go through stressful things, and suddenly become a LOT more gay or develop dysphoria. If you have this, and the androgens do not correct with treatment of whatever enzyme anomaly you have, low dose bicalutamide (50mg or less) daily is great to correct the hyperandrogenism problem in a patient who does not intend to get pregnant or doesn't have penetrative intercourse. Bica will make you more fertile, and it's a category X, so you absolutely cannot let a patient get pregnant on it.
19. Review old labs
20. Sodium value is often less than 140, and usually lives in the 134-138 range. Most of these people with "POTS" don't have pots. Pots is an autonomic disorder. These people just get stressed out and dump sodium in their urine due to the adrenal defect they have, and subsequently have their symptoms resolve by taking an extra 1gram of salt 3x daily assuming they don't have any contraindication from doing so.
21. Vitamin C 1g up to 3 times daily as well is beneficial for anyone who can tolerate it with any sort of collagen defect.

Researching Your Genetics

NCAH - Meyer-Powers Syndrome
COMT - Meyer-Powers Syndrome
Gut - Meyer-Powers Syndrome

Estrogen Signaling -
MTF

• AR
• Kallmann’s Syndrome