Within 48 hours, Joyce says that Jacob was like a completely new child. He shed a whole layer of skin, like a snake, his pain appeared to lessen and his reflux started to improve.

“He was happier,” Joyce says. He started to do normal things, like he was wanting to play and he was wanting to roll.”

Within a week, Jacob seemed nearly normal and today, at 2-and-a-half years old, you’d never be able to guess he was once so sick. “If you were to see him today, you’d think he’s a normal little child with no medical issues whatsoever,” Joyce says. “It’s so nice to see that because where he came from and where he is now are two different worlds.”

Dr. Goldbach-Mansky says all the children with DIRA have inherited mutations in the gene that encodes for a protein known as interleukin-1 receptor antagonist or (IL-1Ra). Without it, their bodies can’t control systemic inflammation.

“To the physicians who have taken care of him in the ICU, it was like a miracle,” Dr. Goldbach-Mansky says. “They kept telling me how incredibly moving it was to the entire team that had taken care of this child for months and had been very frustrated with him not getting better and being in pain. And then to see the turnaround – he was out of the ICU in two weeks. So it’s pretty amazing.”

So far, scientists have confirmed 17 cases in Newfoundland, the Netherlands, Lebanon and Puerto Rico. Those who survived were treated with anakinra, because it’s a synthetic form of human IL-1Ra. Most have responded like Jacob – quickly and successfully.

“Whenever we discover a gene it’s actually like a big hint to what pathway is involved. It’s almost like opening a dark box and seeing a light at the end of the tunnel because you know what immune pathway is involved so you can develop treatments,” Dr. Goldbach-Mansky says. “What has been so remarkable is the protein these kids are missing is the very protein we are giving them for treatment.”

The gene mutation is rare, but does seem more prevalent in certain populations particularly in northwest Puerto Rico. Dr. Goldbach-Mansky says newborn screening may be needed in these places.

As for Jacob, he’s now taking the medication every day. His blood work has normalized; the bone lesions throughout his body have resolved; he only needs to use the feeding tube occasionally; and he’s walking, talking and starting to run. His Mom says her biggest challenge now is trying to teach him to draw a straight line because he likes to scribble.

“Because Jake is the first one diagnosed with it, it’s hard to know what the future holds for him,” Joyce says. “Everyone is learning as Jake progresses how this illness will unfold.”

But the family is very hopeful – for their own son and any other children who get the condition. “Jake is definitely a miracle, considering he was almost at death’s door and now he’s an angel,” Joyce says. “It’s mind-blowing. It’s incredible. We give so much thanks to Dr. Goldbach-Mansky and her team. They’ve discovered Jake’s problem and now they’re willing to not only help him, but also hopefully to help so many more.”