“Even a light touch can cause a wound”… What’s the story of a baby who only has a few months to live?

The story of a baby born with skin so delicate that the parents couldn’t even hold him was introduced. He was born not long ago and had only a few months to live. The parents shared their story in hopes of getting some help for the baby’s rare skin disease.

According to foreign media reports, including the British daily The Daily Telegraph, Uzziah Bowman, who was born on the 24th of last month, has a rare disease called epidermolysis bullosa. The child’s skin is as delicate as a butterfly’s wings.

The parents were told at their 20-week pregnancy scan that their baby might have a chromosomal abnormality. From then on, they braced themselves for the possibility that their baby could be born with a mild disability.

Born on July 24th via cesarean section at 3 pounds 1 ounce, Uzziah had more problems than expected. The baby was born with the umbilical cord wrapped around her neck and had spots on her arms, legs, and neck. Her right ear canal was missing, with only a piece of skin in its place. The doctor said the baby’s problems could be due to a serious form of epidermolysis bullosa.

Ushiya is currently receiving treatment in an incubator. She has jaundice and is receiving nutrition through a tube. She needs surgery to repair her blocked intestines, but her body is too weak to withstand the surgery.

“In mild cases, the child usually has a chance of living a more normal life, but the doctors say our child will only live a few months,” said Lee (44), the child’s father. “We have very little time to spend with our child. I spoke out in the hope that other parents (who have children with the same condition) would tell us what they did for their children.”

The child is currently being cared for by a specialist epidermolysis bullosa team at Birmingham Children’s Hospital, and the parents are awaiting genetic blood testing.

A disease that causes painful blisters to easily form on the skin and mucous membranes even with minor trauma

Epidermolysis bullosa is a rare hereditary disease that causes blisters to easily form even with minor trauma, causing pain in the skin and mucous membranes. It is caused by genetic mutations that create proteins that make up the epidermis, epidermal-dermal junction, and the upper papillary dermis. In severe cases, it can affect the eyes, tongue, and esophagus, and cause muscle atrophy and deformities of the hands and feet. It is estimated that there are about 250 to 300 patients with epidermolysis bullosa in Korea.

Epidermolysis bullosa is largely divided into simplex epidermolysis bullosa, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa. Simplex epidermolysis bullosa is caused by an abnormality in the keratin fibers inside the basal cells of the epidermis, the outer layer of the skin, causing the basal cell layer to separate, resulting in the formation of blisters. When the blisters burst, they are very painful and sometimes itchy.

In the case of junctional epidermolysis bullosa, the separation of layers occurs beneath the basal plate at the junction of the epidermis and dermis, forming blisters. Extensive blisters appear on the skin from birth, peel easily, and are very painful. In infants, if blisters form in the upper respiratory tract, they are very dangerous because they can cause respiratory obstruction.

Epidermolysis bullosa is a disease in which blisters appear in the lowest layer of the epidermis. Blisters appear over a large area of ​​skin and easily peel off. Depending on the inheritance pattern, it is divided into autosomal dominant and autosomal recessive inheritance types, and in the case of the recessive inheritance type, more severe symptoms and sequelae occur.

There is currently no cure for the disease, and symptomatic treatment is mainly performed to alleviate symptoms and complications. Among these, it is most important to prevent infection of blisters that have already formed. Depending on the nature of the complications, surgery may be necessary, and genetic counseling for patients and their families is also necessary.

In order to prevent infection, it is important to eat enough nutrition, maintain a clean environment, and wash your hands. You should be careful because blisters can easily form even with a little pressure or friction, and to protect the skin from damage, you should keep the temperature of the room not too high and maintain skin moisture. In the case of a child who needs parental care, use a soft cloth to support the buttocks and the back of the neck when picking them up, and use a hand wrap to prevent scratching the skin.

If blisters form in the mouth and esophagus, chewing and swallowing food becomes difficult. For infants who drink milk, use a large, soft nipple with a large opening for the milk to flow out. For infants who drink food, crush the food into small pieces to make it easier to swallow. Never give hot food. When the esophagus is narrowed and the infant cannot swallow food properly, a tube may be surgically inserted into the stomach to provide nutrition.