“It feels like a dream to be able to have a second child.”

The voice of Mr. Kim (32), an elementary school teacher, was filled with regret and hope. The pain of losing her first child, Sol (pseudonym), is buried deep in her heart. On the other hand, she is full of dreams that her second child will come. Mr. Kim sent Sol-i first in April 2021. She was less than 100 days old. When she had her baby, she did the usual prenatal tests plus the detailed tests that high-risk mothers do. She found nothing abnormal. But as soon as her Sol-i was born, she was taken to the intensive care unit and put on a ventilator. Her brain and heart were not functioning properly and her hands and feet were deformed. Because of COVID-19, she couldn’t even hold her hand or talk to her. Sol left like that. Without knowing the name of the disease, she visited five hospitals before and after giving birth, but to no avail. Her examination fee cost about 4 million won.

Work as a team of clinical experts and life scientists

“We found a genetic mutation.” Last November, new hope came. It was the result of a genetic test conducted about a month before Sol-i left. They searched through the genes of seven people, including the blood of Sol-i and Kim, who were taken to Seoul National University Hospital, and the blood of the grandparents of both families, and discovered the gene deletion in question (some parts were missing) after about a year and eight months. The name of the disease was ‘callosal aplasia and gyrus hypertrophy.’ Chae Jong-hee (Professor of Pediatrics and Adolescents), Director of the Rare Disease Division of the Pediatric Cancer and Rare Disease Support Group at Seoul National University Hospital, said to the surprised Mr. Kim, “Why don’t you have a second child now? “We will conduct pre-implantation testing and prenatal testing so that you can give birth to a healthy child,” he persuaded.

Before receiving her professor offer, Mr. Kim had not been able to recover from the shock of sending Sol-i away. She persevered with only the belief that she would be a good mother, but when she suddenly let Sol-i go, she had nothing to do. She doesn’t even know why she sent Sol-i, and she never even thought about having children. Instead, she focused on preparing for the employment exam. Mr. Kim’s life has changed since November of last year. She focused on building her body, and earlier this year she was assigned to teach at an elementary school in Seoul. She is now trying to get her pregnant. Once her pregnancy is confirmed, she plans to run to Professor Chae.

Mr. Kim’s hope began with a donation from former Samsung Chairman Lee Kun-hee. Former Chairman Lee’s surviving family donated 300 billion won to Seoul National University Hospital in May 2021 as a fund to overcome childhood cancer and rare diseases. The hospital formed a diagnostic research team for rare pediatric diseases, and began digging into Sol’s case in earnest.

Professor Chae said, “Only about 10 people in the world have a rare disease like Sol-i’s,” and added, “We found it with great difficulty, analyzing genes on a large scale, developing algorithms, and combining them with foreign ones.”

This is not possible with pediatric clinicians alone. Clinical experts with extensive experience in genetic analysis, bio-information processing experts, diagnostic laboratory medicine experts토토사이트 who are well aware of the limitations of various testing methods, and life scientists who are familiar with gene function must work as a team.

Trio exome testing (whole gene testing) is basic. We analyze the genetic mutations of parents and grandparents and look for mutations in pediatric patients. It takes about 6 months and costs 5 to 10 million won. It took Sol-i even longer and cost over 10 million won. Health insurance does not apply.

In this project, Seoul National University Hospital, along with 16 children’s hospitals across the country, including Samsung Seoul, Kyungpook National University, Yangsan National University, Chonnam National University, and Chungnam National University, tested the genes of 737 patients and 1,422 guardians whose disease names were unknown. Of these, results were released for 424 patients and 810 guardians, and the cause for 150 cases was revealed. Sol’s case is one of these. Out of 150 people, only 4-5 have the same disease, the rest are all different. Baraitser-Winter syndrome , Arboleda – Tham syndrome , Bosch-Bunstra-Schaaff optic atrophy syndrome (Bosch-Boonstra-Schaaf optic atrophy syndrome ), etc. You can tell what a rare disease is just by looking at its complex name.

Many of them were first discovered in Korea. Sometimes it takes more than 10 years to find the genetic mutation, and sometimes it cannot be found. Parents of children with rare diseases describe this process as ‘diagnosis wandering.’ 150 patients put an end to their ‘wandering’. Parents are first relieved to know the cause. The medical staff takes the next step in exploring treatments.

It takes 10 years to find the ‘diagnosis wandering’ mutation.

Lee Jin-sook, a clinical professor in the Pediatric Rare Disease Division at Seoul National University Hospital, said, “There is a 30-40% chance of finding an answer through the trio exome test, but we do not give up just because we cannot find the answer. “She continues to do cell and animal research, which takes much more time,” she said. “When necessary, I also collaborate with zebrafish and fruit fly experts across the country.” In this project, 42 cases in the field of pediatric cancer, 19 cases of rare diseases, and 105 joint research cases will be conducted. 100 medical institutions and 1,059 medical staff are working together.

Professor Chae Jong-hee said, “All of this is possible thanks to donations. “There is an opportunity for Korea to become a center of global clinical research in the field of undiagnosed and rare diseases,” she said. Kim, who has revisited her dream of becoming a mother, said: “I was scared to have a child again, but former Chairman Lee and the medical staff gave me hope.”

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