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lyinghorizontally t1_iuvk4v6 wrote

Reply to comment by Abishek_Muthian in When I was 32, I was told that my bones were like that of an 80 year old. I have built a web application to track bone health and monitor treatments for those like me. No sign-up, No personal data collected, Completely Free and Open-Source. by Abishek_Muthian

Thanks for the kind words and I hope I can bring about awareness. I went through the process of getting diagnosed myself not long ago. There are a few groups on Facebook, if you search for Softbones or Hypophosphatasia, that have a really great community. There are many people on there that say they've been diagnosed with osteoporosis, but it's actually hpp. I haven't had Dexa scanning done yet, but when I do I'll be sure to come back and use your site. If you have any questions let me know and I can try and help in any way.

If you're located in the US, https://www.invitae.com/en offers generic testing and even has a free program to test you for this. https://www.invitae.com/en/discover-dysplasias/

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Abishek_Muthian OP t1_iuvua1y wrote

Thank you for those resources, I'm in India but it would help others from US here.

What triggered you to get diagnosed for HPP?

Edit: Typo

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lyinghorizontally t1_iuyzzxh wrote

Honestly, I had yearly blood work done for probably about the past ten years. Some for my work's health insurance and some for personal reasons. I noticed that my ALP seemed to be low every year. I spoke with my Dr. and he wasn't worried about it at all. He even wrote on the results ''OK'' next to it. Usually my Alp is in the 15 range.

At the beginning of February, I was working on some mental health issues that never seemed to really respond with medication and I went back to look to see if maybe my blood work could provide some answers. I started digging deeper into ALP because that was really the only thing that was constantly low. When I started doing some research I came across Hypophosphatasia.

I spoke with my Dr. and they told me they personally really don't know much about it, but they had looked it up after our first meeting and knew there wasn't much as far as treatment goes. Following my research I requested to get vitamin B6 testing and that came back as abnormally high. I kind of figured I was on to something then and requested the genetic testing.

As far as B6 goes, it is no wonder that this disease can cause some mental health/energy issues. Even though B6 may be abnormally high, someone with Hypophosphatasia doesn't process it correctly and it may not make it to where it needs to go. This is the way I understand it, but I'm not that great at understanding the scientific reports.

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Abishek_Muthian OP t1_iuzrskn wrote

I feel you've done well by indulging in your research instead of blindly relying on diagnosis of a medical professional, There seems to be a general lack of scientific curiosity among medical practitioners treating bone diseases; I believe this comes from the fact that it's usually the elderly who come seeking treatment from them.

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