Press: This is the story of an athlete killing a professional medical staff. Instead of climbing and skiing, which she is good at, It is a diagnosis of genetic diseases. Kim suffers from two different genetic diseases. Most doctors at the visit believed that there was no what link between the two diseases, but Kim did not think so. She searched PubMed’s relevant literature and found that LMNA gene mutation may be the common cause of the two diseases, and then insisted on confirming her inference through gene sequencing. (Fortunately, she did not use Baidu.)
Kim Goodwell, an athlete, suddenly sprained her foot while running on a mountain path one day. A few weeks later, she found that she had difficulty lifting her foot after exercising, her toes scratched the ground, and then began to suffer from pain in her back and joints. All these symptoms occurred in 2002, when Kim was 44 years old and was already a very successful endurance athlete.
Kim rides bicycles, runs, climbs and skies in the Rocky Mountains for several hours every day, and is a veteran triathlon. Since childhood, she has been the best physically fit in the family. At the age of 4, she can let her teenage uncle stand on her belly as a party trick. In high school, Kim became a versatile gymnast and cyclist. In college, she ran half a marathon almost every day. The above list is not to express how good Kim is and how competitive she is, but she loves sports too much.
So, when these minor abnormalities occur in her limbs, She didn’t care. In the summer of 2010, Things are getting worse and worse, The more serious the illness, But Kim did not plan to go to the doctor, Instead, they are going to go to Lake Superior with her husband for vacation. They plan to camp there, canoe there, If we can catch more fish, They even plan to live in Lake Superior for a long time. Just one day before departure, Kim’s condition has become so serious that she can’t even catch a pen or fork. A person who pursues extreme sports every day can’t even take care of his daily life. Kim and her husband did not go to Lake Superior, but came to Mayo Clinic in Rochester, Minnesota.
After four days of examination, The neurologist told Kim he had Charcot-Marie-Tooth disease, This is a hereditary disease, It mainly affects the signal transmission of peripheral neurons between spinal cord and limbs. The disease is relatively rare, The clinical symptoms are different, but Kim’s symptoms are very typical. At first, it is difficult to stand on tiptoe, then it develops upward. Hearing these Kim collapses, neurologists suggest Kim should return to the hospital for examination within one year to see how fast the disease progresses. It is almost certain that the disease will deteriorate and cannot be cured.
Kim and her husband came back from the hospital feeling exhausted, She slept for two days. When Kim woke up, she told herself that since the disease could not be removed from her body, she should adapt to it and understand it. She began to understand the disease, and when she looked through her medical record, she found a very strange place: why the medical record did not mention her history of heart disease.
In fact, Kim had already suffered from another hereditary disease, arrhythmogenic right ventricular cardiomyopathy (ARVC), before fibular muscular atrophy was discovered. The disease is characterized by normal myocardial tissue being replaced by fat and scar tissue, and the heart beats without normal rhythm. Kim now relies on a built-in defibrillator to keep her heart beating. [Even if she has the disease, it doesn’t have to be mentioned in the medical record], Kim told herself.
What really bothers Kim is not that his heart disease history is omitted from the medical record, But she suffers from two hereditary diseases-one of the heart, one of the nervous system, It seems that there is no connection between the two diseases. In other words, she is a double loser in terms of heredity. The probability of suffering from two hereditary diseases at the same time is too low, just like a person has been struck twice by lightning. It cannot be so coincidental. Kim believes that there must be some connection between the two diseases.
Both of Kim’s illnesses are rare, The incidence rate of fibular muscular atrophy in the population is about 4 million/1 million, The incidence rate of ARVC is about 2-4 million per 1 million. However, hereditary diseases are common in the population. At least 8% of people suffer from a hereditary disease. The combination of these two contradictions has produced many online dating communities. Through the community, People with the same disease can communicate with each other. Heidi Rehm, a hereditary patient from Harvard, established such a community. Patients in this community all suffer from Norrie disease, where they can share their experiences with each other and even some symptoms are ignored by doctors. Through this community, they found that almost all male Norrie disease patients have erectile dysfunction, which is exactly ignored by doctors.
Kim also joined a patient communication community after the defibrillator was implanted. But she soon found herself unsuitable here-the community is always full of rubbish, asymmetric information, The explanation of diseases in it is often incorrect, As a result, she wanted to find out for herself. She started searching PubMed for articles about fibular muscular atrophy, but because she had not received formal medical training, she was very confused about the professional concepts and terms that appeared in it. Kim once described them as “reading professional concepts and terms is like reading Chinese.”
But she persevered, She knows all the genes associated with fibular muscular atrophy, There are about 40 genes. One of them is LMNA gene, which is initially translated into precursor protein prelamin A and then encoded by different alternative splicing to generate Lamin A/C protein. Specific mutations of Lamin A/C protein may destroy nuclear function and lead to the death of immature adipocytes. Its mutations can lead to at least 15 different diseases. At this point, Kim seems to know the cause of the disease.
Kim is convinced that she has found the common cause of the two diseases. But whether there is a mutation in her DNA, You have to do LMNA gene sequencing to know. First of all, She had to convince scientists that she was right, and she handed Grogan her research. Indeed, Grogan was deeply impressed by Kim’s research, but he believed that even if Kim was right, even if the pathogenic gene was found, it would not change her fate-defibrillators might control her heart rhythm, but fibular muscular atrophy could not be cured.
In November 2010, Kim handed her medical record to Ralitza Gavrilova of Mayo Clinic, but Ralitza Gavrilova told her that the chances of judging correctly were slim. She recommended Kim to do seven other ARVC-related genes, and this part of insurance can also be reimbursed. If she insisted on sequencing LMNA gene, she had to pay 3,000 US dollars. Why should she spend so much money on sequencing an unlikely gene? However, Kim still insisted on her own idea and insisted on sequencing LMNA gene. She knew that ARVC gene could only explain some other symptoms, but could not explain why she had neurological symptoms. Only LMNA gene mutation could explain.
The final examination results proved that Kim was right. Her LMNA gene did have mutations. Kim’s research notes are 36 pages long. Her work shocked many people. When most people do not know about these two diseases, Kim can tell doctors what kind of genetic examination to do, which I think can be praised by 10,000.