- Joined
- Mar 16, 2019
Thanks a lot for providing detail! Yes, what I read is the last part - that what’s primary or not primary is not determined yet - which is why the claim seemed to be incorrect to me. But I’m also not exactly proficient in medical terminology to interpret this.Thanks for the updates on Polina's situation.
Slightly OT, I realised 'Koenig's disease' is a synonym for 'osteochondritis dissecans', which I actually had heard Polina had - there is a Wikipedia page for it under this name: https://en.wikipedia.org/wiki/Osteochondritis_dissecans#Causes
It sounds like a multifactorial disease, with possible genetic predisposition + environmental causes. The mechanism is not as simple as e.g. cystic fibrosis which follows Mendelian inheritance, where you know that a specific mutation in the CFTR gene inevitably cause the disease phenotype. Rather, it's more like cancer (e.g. BRCA mutations increase risk of breast cancer but it doesn't mean you will get it).
Or to use a closer example which is also related to immunity, Crohn's disease (dozens of genes are associated with higher risk, but so are factors like smoking, diet and prior gut infection) - one of my parents has it, but not me, although studies have shown that as a close relative my risk is substantially higher than the general population.
So yes, it's not wrong for Eteri to say that Polina has a 'genetic disease'. However, Polina's mum is also not wrong to say that genetics is not the 'primary cause' of osteochondritis dissecans (in fact the Wiki article also implicates repetitive strain, which also makes sense for a young athlete). If its etiology is similar to Crohn's, debating whether genetic or environmental factors carry more weight is probably something best left to medical academia rather than the general public.
My main point was that it seems like a complicated topic and that no one had a goal of lying or making things up.
Even Polina herself says the doctors tried to explain it to her, but she didn’t fully understand what’s going on with her.
Slightly OT, I realised 'Koenig's disease' is a synonym for 'osteochondritis dissecans', which I actually had heard Polina had - there is a Wikipedia page for it under this name:
