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Experimental Therapy Saves Boy With Rare Disease

From VOA Learning English, this is the Health & Lifestyle report.

It is one of the worst things a parent can imagine.

Your child is sick, and suffering in terrible pain. No medical treatments seem to help.

That was the condition of a 9-year-old boy with an incurable skin disease. The father says his son was near death.

"He was in severe pain and asking a lot of questions I could not answer: 'Why do I suffer from this disease? Why do I have to live this life?'"

Today, the boy is no longer suffering like that. In fact, he is healthy and said to be living a normal life. His recovery shows what gene therapy can do.

This boy, whose parents do not want him identified, had until recently been suffering from a rare genetic skin condition.

The disease is called junctional epidermolysis bullosa. It causes painful wounds and blisters all over the body. The skin is so fragile that it tears and damages easily.

Experimental Therapy Saves Boy With Rare Disease

The child’s doctors in Germany said that none of their treatments was working. Left with no other choice, they said they simply wanted to ease the child’s pain and suffering as much as possible.

However, the boy’s parents did not accept that. They begged the doctors to look for experimental treatments.

One of the German doctors is Tobias Rothoeft at Ruhr University in Germany.

Dr. Tobias Rothoeft and others helped to save a boy's life with experimental <b>gene</b> therapy.

"So then we thought we could do nothing for this kid and opted for a palliative care approach. We discussed it with the family, and they begged us to do something about it or to try anything we could."

The boy’s father researched gene therapy on the internet. He told the doctors about his findings. They had never dealt with genetic therapy. The parents urged the doctors to consider the experimental treatment. When the doctors saw that experiments were being carried out, they reached out to another medical expert.

"Then we got in contact with Professor De Luca and we discussed this case, and he offered us to give us skin to cover the whole body of this kid."

Michele De Luca works with the Center for Regenerative Medicine in Modena, Italy. De Luca says the German doctors tried everything they could to help the boy. But the doctors had few real choices.

The German doctors asked De Luca if he and his team could try the genetic treatment on the patient. They called it "an act of compassion."

De Luca explained gene therapy was still experimental. However, he agreed to try it as a treatment of last resort for the boy.

De Luca's team used a virus to put a healthy gene into cells taken from the boy’s skin. Some of those cells can multiply indefinitely. So, De Luca was able to grow new, healthy skin for the boy which he then sent to doctors in Germany. The German doctors used this genetically engineered skin to replace most of the skin on the child’s body.

De Luca says the child appeared better in October after the first transplant on the four limbs. The second operation was on his back and was a bigger transplant.

This is when doctors saw that the regeneration, or restoration, of the skin did something to the boy. He got better right away. The child's vital signs, such as body temperature and blood pressure, began getting better. That is when the doctors realized that the operation was a success.

Again, here is one of the boy’s German doctors, Tobias Rothoeft.

"We're happy that it worked. This kid is back to his normal life again. That's what we dreamed of doing and it was possible."

Two years later, the boy is now back in school, and no longer takes special medication. However, his doctors will have to watch him closely over time to watch for skin cancer or other problems.

For the Health & Lifestyle report, I'm Anna Matteo.

Kevin Enochs reported this story for VOA News. Anna Matteo adapted it for Learning English using additional information from several websites. George Grow was the editor.



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Words in This Story

gene therapymedical n. the transplantation of normal genes into cells in place of missing or defective ones in order to correct genetic disorders.

blistern. a raised area on the skin that contains clear liquid and that is caused by injury to the skin

fragileadj. easily broken or damaged

optv. to make a choice; especially : to decide in favor of something

palliativemedical n. : something that reduces the effects or symptoms of a medical condition without curing it

compassionn. a feeling of wanting to help someone who is sick, hungry, in trouble, etc.

last resortn. something done only if nothing else works


transplant – medical : to perform a medical operation in which an organ or other part that has been removed from the body of one person is put into the body of another person

vital signsn. important body functions (such as breathing and heartbeat) that are measured to see if someone is alive or healthy

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