@swpocket any general practitioner or primary care provider (pcp) can order a CMP
( comprehensive metabolic panel)
and i had to do my own research, due to doctors not being equipped to know about every disease in the world(its fair, i guess) but i didnt like doctors dismissing my low ALP levels (alkaline phosphatase) and i had to also prove my ehlers danlos in order to receive the formal diagnosis of it. which i do have now, but it takes time because you have to learn how to research and advocate for yourself. but i dont think anyone should have to do that, so i plan on helping others as much as i can whenever i see someone describing anything that seems familiar to me. here are some articles on hypophosphatasia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658462/
https://softbones.org/
(here is diagnostic criteria for hpp done by an actual medical professional, showing you the many ways HPP can present on blood work and the ranges and cut offs for an ALP level) he shows a few cases, and explains their chief complaints that led to the diagnosis of HPP
you can have either juvenile onset HPP or Adult onset HPP, infantile wouldve been diagnosed in your mothers womb. but if you check any recent testing from the hospitals youve been to , they may have ordered a comprehensive metabolic panel as a part of your work up. this checks your fluids, electrolytes, liver and kidney function. if your kidneys are fine then its even more of a reason to assume HPP if the ALP (which is a liver enzyme that is responsible for helping your body break down proteins) other causes of a low ALP are wilsons disease, kidney or liver issues(but usually the ALP is high if you have liver or kidney disease) another cause of low ALP is malnutrition but if you have results before you lost weight of a low alp and having this low bone density you can take all of this to a doctor and they will have no choice but to send your butt to genetics. lastly get a b6 test, it will corroborate the very idea of you even having hypophosphatasia. feel free to private message me for any more questions, im not an expert but i can share the knowledge ive learned along the way.
im seeing every specialist under the sun at this point at the age of 25. the day you start questioning your doctors is the day you start to chip at finding true preventative healthcare and find out how much they delay your care when you dont advocate for yourself or atleast dont know how. thanks to people like us, we are giving out warning signs to prevent it for everyone else