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> Achondroplasia is prone to loss in bone mineral density & spinal stenosis. Discontinuing the supplements seems like it was an error. Were there symptoms tha

> Achondroplasia is prone to loss in bone mineral density & spinal stenosis. Discontinuing the supplements seems like it was an error. Were there symptoms that led you to fear the impact on your kidneys specifically? Having the luxury of hindsight it seems like it would have been much better to consult with a physician about changes to dosage or other treatments that would still preserve bone density. Also might be useful for physician to realize how critical it is to impart details about the supplements as treatment and risks of stopping to the patient.

jopsen 8y ago
In hindsight a DNA test might have revealed achondroplasia, at-least Wikipedia seems to suggest so.. I'll admit I'm tempted to strive away from DNA-tests because I'm not sure it would be nice to know if I'm high risk for something bad. But the this is a good example that we should do it anyways, because it might reveal a condition that can be mitigated better if caught early.
- Abishek_Muthian 8y ago
  (OP) >In hindsight a DNA test might have revealed achondroplasia It might have, but remember my diagnosis were conducted in 1994,2001 (though best hospital in India of that time) to conclude I was a normal kid with some vitamin deficiencies. Even now, I doubt whether even now pregnancy scans test for achondroplasia. I was informed recently that it was mentioned by a doctor in Singapore that, achondroplasia tests should be requested during pregnancy tests. I'm not sure whether it is part of pregnancy scans in Western countries & how common is the DNA tests for achdonroplasia.
  - jopsen 8y ago
    My point was that when discussing DNA tests, people often argue that they don't want to know if they are at a higher risk of cancer. But this is a good example of something that they would want to know. Because it can likely be mitigated. That's a good point to keep in mind next time someone says they are unsure if DNA testing is a good idea. -- To your point, I don't know if this disorder is something we screen for. But the cost of full DNA sequencing is falling fast, and it's just a matter of time before we start screen for genetic disorders. Thus, the future is bright.
Abishek_Muthian 8y ago
(OP) >Discontinuing the supplements seems like it was an error. Yes, it was foolish of me. But to cut some slack, I was starting my Engineering course; starting of my life outside hospital & I felt healthy. It wasn't like the doctor had detailed any supplement plan nor I was informed of the potential consequences. I have commented more details about that doctor here[1]. >Were there symptoms that led you to fear the impact on your kidneys specifically? Too much noise about kidney stones as a result of calcium in-take. I concluded it's time to quit, I didn't check with any orthopedic as I had cultivated a severe aversion to medical practitioners by that time. >Also might be useful for physician to realize how critical it is to impart details about the supplements as treatment Correct. [1]: https://news.ycombinator.com/item?id=17906297 https://news.ycombinator.com/item?id=17906297

jopsen 8y ago

In hindsight a DNA test might have revealed achondroplasia, at-least Wikipedia seems to suggest so.. I'll admit I'm tempted to strive away from DNA-tests because I'm not sure it would be nice to know if I'm high risk for something bad. But the this is a good example that we should do it anyways, because it might reveal a condition that can be mitigated better if caught early.

Abishek_Muthian 8y ago
(OP) >In hindsight a DNA test might have revealed achondroplasia It might have, but remember my diagnosis were conducted in 1994,2001 (though best hospital in India of that time) to conclude I was a normal kid with some vitamin deficiencies. Even now, I doubt whether even now pregnancy scans test for achondroplasia. I was informed recently that it was mentioned by a doctor in Singapore that, achondroplasia tests should be requested during pregnancy tests. I'm not sure whether it is part of pregnancy scans in Western countries & how common is the DNA tests for achdonroplasia.
- jopsen 8y ago
  My point was that when discussing DNA tests, people often argue that they don't want to know if they are at a higher risk of cancer. But this is a good example of something that they would want to know. Because it can likely be mitigated. That's a good point to keep in mind next time someone says they are unsure if DNA testing is a good idea. -- To your point, I don't know if this disorder is something we screen for. But the cost of full DNA sequencing is falling fast, and it's just a matter of time before we start screen for genetic disorders. Thus, the future is bright.

Abishek_Muthian 8y ago

(OP) >Discontinuing the supplements seems like it was an error. Yes, it was foolish of me. But to cut some slack, I was starting my Engineering course; starting of my life outside hospital & I felt healthy. It wasn't like the doctor had detailed any supplement plan nor I was informed of the potential consequences. I have commented more details about that doctor here[1]. >Were there symptoms that led you to fear the impact on your kidneys specifically? Too much noise about kidney stones as a result of calcium in-take. I concluded it's time to quit, I didn't check with any orthopedic as I had cultivated a severe aversion to medical practitioners by that time. >Also might be useful for physician to realize how critical it is to impart details about the supplements as treatment Correct. [1]: https://news.ycombinator.com/item?id=17906297 https://news.ycombinator.com/item?id=17906297