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ian4real t1_iuutg6h 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

Wow. Funny story. When I was 22, I was told I had the bones of an 80 year old man (via an impromptu dexa scan, I worked there). I started treatment at that time. And quit a few years into it. I’m over 40 now and a new doctor ran a multitude of tests, and ruled out osteoporosis, instead diagnosing me with a very rare mutation of collagen. Referred me to the Rare Disease Clinic in LA (2 or so in the country). Just thought I’d mention.

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Abishek_Muthian OP t1_iuv522n wrote

Thanks for sharing, I have already faced consequences of brittle bones incl. nearly ending up as a quadriplegic as my cerebral spine fractured without even me knowing about it.

So there's no doubt whether I have brittle bones, The doubts are why I have them and which might very well be a rare disease like yourself instead of Osteoporosis. There are other comments which suggests Hypophosphatia.

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HMJ87 t1_iuvupdu wrote

>When I was 22, I was told I had the bones of an 80 year old man

I hope you gave them back

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ian4real t1_iuvyuvw wrote

Hahahahaha Unfortunately, they weren’t refundable

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shitmattsays t1_iuwnl8b wrote

Hi /u/ian4real - 45M here with similar T-scores as you. Is there a name for this collagen condition? Also, were there any markers in your blood work or specific blood/urine tests that helped with your diagnosis? I did two-years of parathyroid injections with no marked improvement and recently started bisphosphonate treatment. We still don't have cause yet, so we are treating the symptoms and I'm staying off ladders.

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Abishek_Muthian OP t1_iux0ska wrote

I'm getting treated only for the symptoms as well with biphosphate injection every year, Since I already have Achondroplasia(Dwarfism) I think there's no real interest to investigate the cause; Besides its the scientific rigor needed is not available where I live.

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ian4real t1_iuwpkrp wrote

Hi. Unfortunately there’s no blood work for mutations, other than genetic testing and biopsy. I haven’t gone to the rare disease clinic. He ran all the usual bone related work-ups, calcium, thyroid, ruling out bone loss etc, review all my many bone densities, looked at X-rays of my spine and hip. Also, the fact I have not broken any bones in my life. He’s a rheumatologist professor at a Medical school. I think my prior doctors were quick to diagnosed me and get me out of the way. In my case I was going to being treated and it wouldn’t have helped. These medications can be dangerous taken for a long time.

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shitmattsays t1_iux0qx5 wrote

Sounds all too familiar. We've done several rounds of blood/urine tests and our next step is genetic testing. I have an appointment with the genetics team at the Mayo Clinic early next year to see what they have to say. Cheers!

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