Harlequin ichthyosis

By Makoto Hara

Aug 19, 2020

Harlequin ichthyosis

Harlequin Ichthyosis is an incurable disease of the human skin. The name of the disease contains the Chinese characters for clown and fish scales. One in 300,000 people in Japan suffers from the disease, but a three-year-old boy in Matsusaka, Mie Prefecture, is battling it.
The boy's mother, Yui Hamaguchi, has published a book. The title of the book is "The son who was called a clown as soon as he was born”. Her pen name is "Clown’s Mother”.

Mrs. Hamaguchi’s only son, Gaku, was born in December 2016.
He was diagnosed with an incurable skin disease; Harlequin Ichthyosis.

In the book, Mrs. Hamaguchi describes her feelings at the time of his birth.
What is that... What did I give birth to? ...not a person.
When I saw the Chinese characters for 'clown and fish scales', I thought, "What is this? scales...what does that mean?" *

Ichthyosis is a congenital disease with a genetic abnormality that causes skin all over the body to dry up and flake off like fish scales. Harlequin Ichthyosis in particular is the most severe form of ichthyosis, and although the exact number of cases in Japan is not known, it is estimated to be one in 300,000 people.
Gaku was born in a state of suspended animation and was immediately moved to the intensive care unit after he was found to have skin abnormalities all over his body, adhesions on his fingers and a deformed ear.

According to Mrs. Hamaguchi, "He was born with jagged red and white skin, which definitely resembles the clothes worn by clowns”. His skin resembles the 'clown suits' worn by clowns, hence the name of the disease.

Gaku is now three years old. His skin has lost most of its ability to retain moisture and itches all over his body.
His skin's ability to repel bacteria and viruses is extremely weak, so he has to apply Vaseline frequently to prevent infections.
And he always wears long sleeves and long pants, even in the summer and wears braces on his both legs because of the hardening and deformation of his skin. Mrs. Hamaguchi says that there have been times in the past when she has been almost crushed by the cold stares.
“Because this incurable disease is almost unknown, and you can tell by the way it looks... Sometimes when I went out, people would scare my son because of the way he looked, like, 'This mother gave a son burns,' or something like that”.
The Hamaguchi couple published this book last year because they wanted people to learn as much as possible about the disease.

The hospital where he was born was the Mie-chuo Medical Center in Tsu.
His doctor, Dr. Masahiro Ogawa, explains: "Skin is made up of water, protein, fat, and many other ingredients, so we need to supplement our skin with nutrients. It is important to take good nutrition as well as moisturizing care”.

It is said that Gaku needs more energy than an adult male, which is 2,400 calories per day. (Ministry of Agriculture, Forestry and Fisheries data)
The amount of calories Gaku takes in depends on how much he eats and drinks, how his skin falls off and how well he feels that day. He eats six to ten meals a day. Breakfast, lunch, and dinner is not enough for him. He also eats onigiri (rice balls) between meals to supplement the calories.
The hardest part is taking a bath in the morning and evening. When he gets wet, it seems to sting and he cries out for help or to stop. Still, it is necessary to keep the skin clean to prevent infection. And after a bath, moisturizing care is required. Vaseline should be applied all over the body, several times a day, and one or two bottles should be used up.
According to the doctor, "The disease itself is not cured, but the moisturizer must be continued”.
In her book, Mrs. Hamaguchi writes of the time when she gave birth: "His whole body has no normal skin, not one millimeter of skin. There was not a millimeter of normal skin on his entire body”.
It took a lot of patience and symptomatic treatment.

This spring, Gaku will start kindergarten. It's a big step for him. They were hesitant to enroll him in the kindergarten because of concerns about infection, but his parents decided it was better for him to play with other children his own age.
He will be attending a kindergarten in Matsusaka City, near their home, called Yamamuro Kindergarten.

The kindergarten director, Mr. Nishida, said that when Gaku was enrolled in the school, he wanted to make sure that he would be able to play with children his own age.
Before he entered the school, his mother, Mrs. Hamaguchi, and the staff held a study session together.
For example, they disinfected his hands with alcohol before school lunch, but Gaku feels that the mist of alcohol hurt him. His fingertips, which are hard and damaged, are especially painful. In that case, they need to use alcohol disinfection sheets as a substitute.

In addition, the teachers were told how to apply Vaseline and how much food Gaku should eat.
The director of the school said, "Other children can learn from other children, too. The main premise is that the other children can learn from each other.

In April 2020, the first day of the school entrance ceremony was a great sunny day, which is not a "nice weather" for Gaku. He walked to school for about 20 minutes under the ultraviolet rays, which are his greatest enemy.
For the first time, Gaku was in the presence of his peers, though he had had little contact with people outside of our family in the past to prevent infectious diseases.
However, after this, the kindergarten was closed due to COVID-19 and kindergarten reopened two months later.

At the kindergarten, the teachers provide moisturizing care and consult with the weather to decide whether or not to play outside.
Gaku's small challenges began to add up.

Mrs. Hamaguchi said, "I don't feel now that there are many places that he himself cannot do or go due to his incurable disease. I hope that he will understand his disease and, although he will not be cured, he will be able to cope with it well and grow up to be a dependable child".

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