The journey not alone of children with rare diseases

Persistently be with your child in the fight against rare diseases

Ms. Thao's life (An Giang province) turned in a different direction when her family discovered that her child had a rare disease MPS II (MPS II disease is a genetic carbohydrate metabolism disorder that mostly occurs in men due to genetic links to the X-sex chromosome). When giving birth to her third child, she noticed abnormal signs in the child's head, so she took him to Children's Hospital 1 for examination. Gene testing results determined that the child had a rare disease.

Previously, Ms. Thao's first baby boy had similar symptoms, but had not been definitively diagnosed. The second baby was lucky to be completely normal. Knowing that her child was sick, she was once devastated. "I cannot give up. My child needs a strong mother" - Ms. Thao emotionally shared.

Thanks to the advice and support of doctors in applying for treatment drugs, she gradually regained her spirits. The family lives in Phu Quoc, traveling far and hard. When she learned that her child had regular weekly infusions, she decided to move to Binh Duong before (now Ho Chi Minh City) to rent a house for convenient long-term treatment.

Currently, the third baby receives intravenous medication once a week, combined with periodic check-ups, so his health is more stable and alerter even though his brain is still damaged. The first baby, due to the worsening condition and difficulty walking, is mainly monitored and only admitted to the hospital when there are abnormal signs.

Not only Ms. Thao's family, Mr. Nguyen Van Thanh (Dong Thap province) is also going through a similar journey with his 7-year-old son. The baby was diagnosed with MPS II at the end of 2019. Before that, his family had lost their first son due to the same disease. After the incident, according to the doctor's advice, he proactively tested his second child and discovered the disease when he was very young. "It's very sad, but I don't allow myself to collapse. As long as there is a child, there is hope" - Mr. Thanh shared.

Currently, children maintain periodic drug infusions every 2 weeks. For Mr. Thanh, when rare diseases are more concerned by the community, children will have more opportunities to be supported with medicine and maintain regular treatment.

Need early diagnosis and long-term support policies

According to Dr. Nguyen Thi Thanh Huong - Deputy Director of Children's Hospital 1, for rare diseases, the concern of the medical team is how to diagnose children early, because early diagnosis is synonymous with early treatment and improved prognosis. It is necessary to improve the understanding of medical staff and the community about rare diseases so that when symptoms appear, children will be detected and taken to qualified medical facilities for accurate diagnosis and appropriate treatment. However, the big challenge is that the cost of treatment for rare diseases is very high. Therefore, treatment for rare diseases cannot only rely on families or hospitals but requires the joint efforts of the whole society and support policies from the State and the health sector.

Dr. Huong emphasized that children with rare diseases are not alone. Behind them are always families, medical staff and the community accompanying them.