A scientist to himself
I recently heard a very interesting story that I want to share. If you speak English, I advise you to read or listen to the original. I will retell it in a very abbreviated form.
Jill Viles was born a normal child, but at the age of four she began to show an unusual form of muscular dystrophy. The doctors couldn't figure out what was wrong with her. By the age of 11, she looked like this:
By college, her height was 160 cm, and her weight was 40 kg. In college, she started going to the library and independently studying textbooks and scientific journals, trying to find the cause of her illness. But she did not find herself in them, but her father, although no one had suspected before that he also had muscular dystrophy. He turned out to have a mild form of Emery-Dreyfus myodystrophy, the hallmark of which is general thinness, but at the same time the shoulder muscles disappear faster than the forearm muscles, which looks like a "Popeye sailor's hand".
Jill found many of the symptoms of Emery-Dreyfus, but the doctors did not believe the self-diagnosis of a 19-year-old girl who claimed that she had found a very rare disease, which also (as it was then believed) occurs only in men. Disappointed in doctors, Jill directly contacted a group of scientists in Italy studying the heritability of Emery-Dreyfus dystrophy and arranged to send them blood samples of her entire family.
It took the Italians four years to sequence (it was in the 90s), but the results completely confirmed Jill's correctness - she, her father, two brothers and a sister had a mutation in the LMNA gene. Mutations in this gene have also been found in other families with Emery-Dreyfus dystrophy.
Jill was 25 years old. For the summer, she was taken as an intern in the laboratory at Johns Hopkins University. She continued to actively dig into the scientific literature and stumbled upon another extremely rare disease – partial lipodystrophy. With this disease, fat cells disappear in some places on the body of patients. Jill (and her relatives) also had problems with the disappearance of fat cells on her arms and legs, so that all the blood vessels were visible under the skin. Jill went to the doctors again, and they again did not believe her – well, okay, she was lucky to diagnose one super-rare disease, but also the second one? There are no such coincidences.
This time Jill believed them. She abandoned her medical research and began to live. She got married, gave birth to a child (he was born healthy, although he had a 50/50 chance of inheriting her illness). After giving birth, her condition deteriorated sharply.
One day, Jill's younger sister, Betsy, showed her a photo of the Olympic champion, Priscilla Lopez-Schlip. The fact was that Betsy always had good muscles on her body and people asked her how she achieved this. Jill advised Betsy to study lipodystrophy, but the doctors told Betsy that she did not have lipodystrophy. Nevertheless, she went to a meeting of people with lipodystrophy, where they discussed Priscilla, because she also always had very little body fat, so she was even constantly examined for steroid use much more often than other athletes. And Betsy, looking at the photos of Priscilla, saw signs similar to those of Jill.
I must say that in order to see anything in common between them, it took a fair amount of imagination. Here are their photos:
Jill initially rejected this idea, but then curiosity overcame her and she began to look at the photos carefully. And I really found a lot in common, not only from the manifestations of lipodystrophy, but also some signs of Emery-Dreyfus. She came out to Priscilla and she confirmed that she had had problems with fat since childhood and that her children also teased her for the veins protruding on her hands. After quite a long unsuccessful attempts to interest doctors or scientists in this similarity (again, no one took her seriously), Jill finally found a laboratory where they agreed to do a genetic analysis of her and Priscilla, as well as test them for the manifestation of lipodystrophy. Well, you already understand how it ended, yes – they both found the same subspecies of partial lipodystrophy, and genetic analysis showed that Priscilla also has a mutation in the LMNA gene, although not in the same place as Jill. But for some reason, this mutation does not lead to the disappearance of muscles, but to their increased growth.
This is the whole story, in my opinion, quite amazing. There are many more interesting details in the original, for example, about how the diagnoses made by Jill saved her father and Priscilla from serious health problems. So once again I advise you to read or listen.
Portal "Eternal youth" http://vechnayamolodost.ru
29.01.2015