Focus on Rare Disease - Krabbe's Disease

Xia Xia, the "Hiromi Girl"

Krabbe's disease is a rare disease, also known as "orphan disease". The World Health Organization defines a rare disease as a disease that affects 0.65% to 1% of the population. Krabbe's disease is one of more than 7,000 rare diseases worldwide. It is a rare autosomal recessive lysosomal storage disease caused by a deficiency of galactocerebrosidase (GALC), an inherited disorder that leads to progressive neurological damage, resulting in irritability, fever, stiffness of the limbs, and slowed mental and motor development. Xia Xia (a pseudonym) is a patient with Krabbe's disease.

For Xia Xia, the loss of her ability to walk independently only happened in the past two years. Nevertheless, her body showed some symptoms early on. Her walking posture was a bit abnormal when she was studying in college, but she didn't pay attention to it. A year after she joined the workforce in 2010, Xia Xia realized that she would regularly fall every three to four months, and after she gave birth to her child in 2018, she had already lost the ability to walk independently. After many unsuccessful attempts to seek medical attention, Xia Xia was diagnosed with Krabbe's disease in 2021 at Huashan Hospital.

Krabbe's disease often occurs in infancy and early childhood. Those younger than 12 months of age are categorized as infantile, while those older than 12 months are categorized as late-onset. Patients with Krabbe's disease that develops in infancy can be treated with bone marrow transplantation or hematopoietic stem cell transplantation, while its use for adult-onset disease is rare. Current treatment is limited to medication for the appropriate symptoms and some physical activity to slow down the symptoms of muscle deterioration.

For 35-year-old Xia Xia, she is the rarest of the rare and the most unfortunate of the unfortunate.

Most patients are less likely to take medication. "For example, our lower body may sometimes spasm, and the medication given by the doctor is actually just for some of the spasm to improve, but if you take this medication for a long period of time, your body will actually become dependent on the medication." Xia Xia explained.

However, adult Krabbe's disease is not without the possibility of being cured in the future. In China, people's attention to rare diseases is gradually increasing. Data from the China Rare Disease Comprehensive Report (2021) released in March 2021 shows that there are 130 rare disease patient organizations with fixed names and regular activities in China. Among them, 37 (28.5%) are initiated by patients, and the rest of the organizations are co-sponsored by family members. As attention to rare diseases increases, so does research based on rare diseases, and patients with rare diseases may be able to have more chances for healing as a result.

For example, the prevalence of Krabbe disease in parts of Israel is very high compared to other regions, as high as 6 per 1,000. With so many patients in need of treatment, Israeli researchers have conducted extensive studies on Krabbe disease. Combined with state-of-the-art artificial intelligence detection platforms and deep computer learning technology, Hadassah Hospital in Israel helps patients with Krabbe's disease to be diagnosed more accurately and quickly, in order to buy more valuable treatment time. For Krabbe disease, Hadassah Hospital has exclusively developed targeted gene therapy to treat the disease by fine-tuning the disease-causing genes to restore normal cellular function.