From the moment he came into the world, Jacob Whelan wasn’t well.

His fingers were strangely swollen, and he had small puss-filled bumps on his hands. He cried out in constant pain.

The worst part was that nobody knew why.

“As a mother, it really tears at you because you feel so helpless,” Joyce Whelan says.

There was no breastfeeding, no hugging and no holding. No first photos, either, because Jacob’s small body was covered in oozing lesions that appeared like clusters of acne that would spread, break open, scab over, and peel off before more would emerge.

“The way we used to describe it was it was like he was dipped in a pot of fat and burned,” Joyce says.

Jacob was a New Year’s baby, one of the first children born January 1, 2007, and 10 months later, through the persistence of his parents and doctors, he would achieve another first – he would become the first baby diagnosed, and saved from, a devastating genetic autoimmune disease that attacks the skin, bone and connective tissues.

“I think what has happened is these children have been thought to have severe infections and because they died early, people thought they died of infection of the bone. But the cultures usually, if you go back, are negative,” says researcher Raphaela Goldbach-Mansky, MD, a rheumatologist at the National Institute of Arthritis and Musculoskeletal and Skin Diseases, in Bethesda, Md., who successfully diagnosed Jacob.

Dr. Goldbach-Mansky published a paper about Jacob's case and the cases of 16 other children in the June 4, 2009, issue of the New England Journal of Medicine.

Like Jacob, children with the disorder, called deficiency of the interleukin-1-receptor antagonist, or DIRA, begin to have symptoms from birth to two weeks of age that include swelling of bone tissue, bone pain and deformities, inflammation of a layer of connective tissue around bone and a rash resulting from pustules covering their bodies.

Jacob remained in the hospital for 10 months as his condition worsened. He developed internal bone lesions and such a bad case of reflux that he was put on a feeding tube.

“We thought he would die and there was nothing we could do,” Joyce says. 

As his parents hoped for a miracle, his doctors were desperately searching for an answer. They couldn’t identify his condition or explain it, so they were calling doctors all over the world searching for clues.

One of the groups Jacob’s doctor consulted with were specialists at the National Institute of Arthritis and Musculoskeletal and Skin Diseases, or NIAMS, part of the National Institutes of Health in Bethesda, Md.

Researchers there suggested finding a drug to make Jacob more comfortable while they tried to figure out what was causing his body to break down.

They suggested anakinra (Kineret), a drug normally used to treat rheumatoid arthritis that also helps with some kinds of juvenile arthritis.

Within 24 hours of the first dose, there was a remarkable response. Some of Jacob’s swelling started to subside, lesions on his skin started to fall off and Joyce could finally pick up her son.