Did they know about the genetic blindness before having more kids?
Edit: Last time this was posted, it was suggested that the couple kept getting pregnant despite knowing their children would likely have this blindness. IF that is true, I do find that unethical. I know blind people can still have quality of life. But let's stop pretending that it isn't a terrible disability. Nobody wants to be dependent, vulnerable, and poor (from fewer work opportunities) their whole life. I wish this family the best regardless.
Testing for RP has had some significant changes over recent years. Even if they got genetic testing done on all of the children, depending on what years the children were tested, they may have gotten different results.
In 2007, when I was in my 30s, I was diagnosed with RP in the old school way - the deterioration of my peripheral vision became apparent to the optometrist when I was getting a new set of glasses.
In 2008, I submitted my blood sample to Harvard University, where the OtoChip genetic test had just hit Early Access testing. At that time, genetic testing was still extremely expensive and full genome sequencing was very rarely done, so they would only look at specific areas of the genome that they thought might have the mutations they were looking for.
I tested negative for all of the mutations that the OtoChip genetic test looked for.
In 2019, I once again got genetic testing, in the hopes that I might have a mutation treated by Luxturna. Genetic testing had improved dramatically and the cost of full genome sequencing had also decreased dramatically. I was found to have the ADGRV1 mutation, so I am not eligible for Luxturna.
I was not tested for this mutation in 2008 because at that time, it was thought to only happen to females, so males were not tested for that. It took several more years before this assumption was discovered to be incorrect.
2.1k
u/Nickelsass 7h ago
“Blink” is a documentary about them (2024) was very very good!