7-year-old with rare disorder eats after three years following surgery

At the age of five, Angelina Mukhin was diagnosed with Alexander disease, an extremely rare disorder of the nervous system that destroys the white matter that protects the nerve fibres in the brain, resulting in delays in mental and physical development.

February 15 this year was a special day for Andrei Mukhin as his seven-year-old daughter could eat properly without throwing up for the first time in more than three years.

Before she was diagnosed with Alexander Disease and undergoing surgery to improve feeding and nutrition, Angelina Mukhin would refuse to eat and was losing weight fast. (Getty Images / Representative Photo)

At the age of five, Angelina Mukhin was diagnosed with Alexander disease, an extremely rare disorder of the nervous system that destroys the white matter that protects the nerve fibres in the brain, resulting in delays in mental and physical development, and often leading to death by the age of 10, say doctors. Signs of this disease start showing in children as young as two years. According to doctors, only about 400 cases have been reported of the disease since 1949.

As a result, Angelina is slowly losing the ability to function, and has symptoms such as developmental delays and difficulty in eating and sleeping. While the disease is incurable, Andrei said the journey has been made simpler since she underwent a surgery in a Gurugram hospital to improve feeding and nutrition.

“We also found that Angelina had developed hiatus hernia, which causes the stomach to move up to the chest. As a result, she would throw up almost 80% of the water she consumed and had survive on the rest. She was severely underweight,” said Dr RK Jain, paediatric neurologist at Fortis Hospital, who treated her along with Dr Arvind Sabbarwal, who conducted the surgery. Dr Jain added that Angelina had to be fed through tubes before the surgery, but was able to eat almost everything afterwards.

“Although Alexander disease is a rare progressive neurodegenerative disorder, much can be done to treat and manage the symptoms. I have come across only about three to four cases of the disease in my medical career. Because it’s so rare, it is difficult for families to come to terms with it,” said Dr Jain, adding that raising awareness is a great way to overcome fear.

However, the surgery was only the first step in coping with the disease for the family, said Andrei in an email interview. “There is not much awareness about Alexander disease in our country(Russia). Not everyone in the society understands what her needs are,” he said. That and affordable medical treatment are the prime reasons they chose to come to the city, he said.

The Mukhins returned to their country around the last week of February, and now plan to put their daughter back in school. “Before she was diagnosed, she would refuse to eat and was losing weight fast. We thought those were just tantrums. We had no idea how serious the situation was,” Andrei said, adding that the surgery was a ray of hope for them. “We want to make the surroundings conducive for her, and want to help others understand what it means to live with a disease like hers,” he said.