Rare disease diagnosis made possible by Samsung Group donation eases family’s pregnancy fears

Her first visit to a hospital was in September 2023, when she was just 16 months old, and her parents noticed she was developing more slowly than her peers. 

Doctors conducted several initial tests, including brain imaging scans, but they were unable to determine the cause.

Months passed without answers.

A turning point came in February 2024, thanks to a 300 billion won ($200 million) donation from the family of the late Samsung Group Chairman Lee Kun-hee. Through Seoul National University Hospital’s Lee Kun-hee Child Cancer & Rare Disease Project, she was able to undergo Trio Whole Exome Sequencing, which simultaneously analyzes the genes of the child and both parents. The test typically costs several million won.

Doctors finally were able to identify her condition — Joubert Syndrome caused by a Ciliogenesis and Planar Polarity Effector Complex Subunit 1 (Cplane1) gene mutation. Joubert syndrome is an autosomal recessive neurodevelopmental disorder characterized by malformations of the cerebellum and brain stem, manifested only when a child inherits mutated genes from both parents. It is a rare disease with more than 40 known causative genes identified to date, making it uncommon worldwide.

Diagnosis is also difficult through standard testing alone, and accurate genetic diagnosis is necessary to systematically monitor and manage accompanying abnormalities affecting the eyes, kidneys and liver.

Children of the couple have a 25 percent chance of developing the condition, which added major concern at the time of the first child's diagnosis: The mother was already pregnant with a second child.

The relief of finally identifying the first child’s illness was brief and quickly gave way to anxiety over the unborn baby.

“I was worried the second child might have the same disease,” said her father, surnamed Lee.

The medical team moved quickly to determine whether the unborn child had the same condition. A multidisciplinary system involving pediatrics, clinical genomics and obstetrics was immediately activated under the leadership of Chae Jong-hee, director of Seoul National University Children’s Hospital and professor of pediatrics and clinical genomic medicine.

Emergency genetic counseling and amniocentesis were conducted to determine whether the fetus had abnormalities.  

“Because we had already identified the exact causative gene, we were able to confirm whether the fetus had abnormalities through emergency amniocentesis,” Chae said in an interview with JoongAng Ilbo on May 22.

The test results showed no genetic abnormalities in the fetus. Only then was the family finally able to let go of months of anxiety.

“I was finally able to feel relieved after hearing the test results,” Lee said. “Being able to welcome our second child without fear was already a huge gift for our family.”

The family welcomed a healthy second child in the spring of last year.

“Parents often feel overwhelmed because rare diseases are difficult to diagnose and the financial burden can be significant,” Lee said. “Thanks to the Lee Kun-hee donation, we were able to receive an accurate diagnosis and be free from worries about our second child.”

Chae noted that it is not uncommon for parents to give up on having more children in families affected by rare genetic diseases because they fear another child could be born with the same condition.

“However, if the causative gene is clearly identified, parents can have additional children through various methods, including prenatal diagnosis and preimplantation genetic testing,” Chae said.  

“Many families have overcome their fears and gone on to have healthy and beautiful babies and live in happiness,” Chae added. “I hope more families can share in that happiness.”

For rare diseases, accurate diagnosis is the beginning of treatment, according to Choi Eun-hwa, head of the Child Cancer & Rare Disease Project.

“We will continue providing support so families can identify recurrence risks in advance through genetic diagnosis and have healthy pregnancies and births.”

Choi also stressed that it is important to have available professional support at multiple stages, including genetic counseling related to pregnancy and childbirth and prenatal testing, for families affected by rare diseases.  

“We will strengthen close multidisciplinary cooperation systems to create an environment where families with rare diseases can receive the medical support they need when they need it,” Choi said.

This article was originally written in Korean and translated by a bilingual reporter with the help of generative AI tools. It was then edited by a native English-speaking editor. All AI-assisted translations are reviewed and refined by our newsroom.

BY RHEE ESTHER [[email protected]]