Ashkenazi and French Canadian Genetic Disease

What is worse than being born before one's time? To suffer from a disease and to die before the remedy is discovered? In our miraculous time, when we are almost all-powerful and there are remedies for almost all the diseases, nothing is sadder than to see people suffering and dying when the remedy is surely be available in a few years or months. I remember Dr Idelsohn of TAHAL, his two daughters carried some fatal mutation and he dedicated his life to create incentives for the disease be studied in the universities. In a few years, the disease became curable but he saw his daughters succumb one after the other and later he himself was no more. 

The nice Moroccan (Sepharadi) Jewish girl spent ten years trying to give birth. They tried everything, IVF and Georgian surrogates, and nothing.  Her husband is Ashkenazi but she is not, but anyway they underwent the routine genetic counseling in Israel. No rare Ashkenazi mutations were suspected because she is "Oriental".

But in the end they paid 6000 dollars for a complete analysis and the rare Smith–Lemli–Opitz mutation was discovered. The carrier frequency is highest among Ashkenazi Jews (1 in 43) and Northern Europeans (1 in 54), and almost nil in Mediterranean and African populations. For some reason, the Cajun-French Canadian population carrier frequency is similar to the Ashkenazi (BTW, the Israeli Rabbinate believes in genetic profiling to decide who is a Jewish descendant and therefore entitled to Israeli citizenship. I wonder if French Canadians may pass for Jews, should they want to. They don't want to.) The mutation affects the cholesterol metabolism and has no cure. The healthy boy in the pic was conceived thanks to in vitro selection of fetii. 

She was born just in the right time: if born ten years before, she would have no chance to be mother at all.