X marks the spot — but doctors don't always listen
Why the dogma about genetic illnesses is changing
Hello, and welcome again. After a long hiatus—I had a baby and wrote a book (the latter of which takes a lot longer to gestate, I learned)—I have two new articles to share with you.
In my latest story for The Atlantic, I wrote about generations of women with genetic diseases who have been denied care. Doctors once believed that most X-linked diseases—such as Duchenne muscular dystrophy and multiple forms of hemophilia—essentially only affected males. But increasingly, it’s apparent some females also suffer from these illnesses, too. Now women are speaking up, and challenging the medical dogma. Our understanding of the genetics of these illnesses is undergoing a seismic change. Here’s the story and how it affects one family fighting for their girls:
Doctors Said These Women’s Mutated Genes Wouldn’t Harm Them
My second new article describes a puzzling illness plaguing children across the globe. Most people have never heard of the facial disease called 'noma', but somewhere between 40,000 to 140,000 new cases of it occur worldwide each year. The illness, which most commonly affects children, has no confirmed cause, and can destroy the tongue and cheeks, robbing them of the ability to speak for life. Those who do not receive antibiotics in time die from a the body-wide infection known as sepsis. I wrote about the urgency and mystery of noma this past summer for Nature's Outlook series on neglected diseases:
Thank you for taking the time to read this update. And please do share these articles if you have friends or colleagues who might be interested to hear about these overlooked conditions. You’ll hear more from me soon about my forthcoming book (which is in the editing stage, and covers a big new idea within genetics).