I want to be generally well-informed about the disease that I have, but it turns out that’s not realistic—there are too many variations of it, what’s known about it is evolving and hard to keep up with, and my perspective changes as my symptoms worsen. Most of the information out there doesn’t apply to me, and trying to keep track of it all is not meaningful to me.
Would someone diagnosed with breast cancer feel compelled to learn just as much about leukemia as about breast cancer, because both are cancers? It seems unlikely to me. But let’s say you have breast cancer and someone asks you what the prevalence of breast cancer is compared to the prevalence of leukemia, or how each would affect your life, and how each responds to chemotherapy. You don’t want to be unaware of how your own disease fits in with others that are in the same family. So, you try to keep yourself reasonably informed.
I can’t fit into these genes
There are 40+ classified genetic variants of spinocerebellar ataxia:
For some genetic variants of ataxia, there are a few subtypes. The subtypes evolve over time as more and more people with the genetic defect are observed, and the observers see that there’s a spectrum of experiences that cluster together at certain points.
Can you repeat that?
There are also genetically similar diseases (e.g., Huntington’s disease), symptomatically similar diseases (e.g., multiple sclerosis), and at the root of it all is the science of genetics (or not; ataxia is also the symptom of many nongenetic ailments). The more (or less) one knows about any of these things will contribute to (or detract from) one’s complete understanding of ataxia.
If you have the disease, dealing with it is less about understanding the general science behind it and more about accommodating your condition as it worsens. Caregivers don’t need to know what you have, they only need to know what you need.
It’s much more likely that your experience will be closer to that of other family members than to that of the entire range of experience out there. But because of the rarity of the disease and thus the lack of deep knowledge out there about the range of experiences, you might find that the details of your experience will be unlike everyone else’s who came before you, including the experiences of other family members with the same genetic defect and similar CAG repeat counts.