6/25/09 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.
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.”
I saw Joyce and Kevin in agony, helpless to help their little boy. At the same time they also have Emily, then age 5, and the role of trying to keep her life as normal as possible in this upside down world. Seeing Jake in the hospital with the many tubes connecting him to things that we all hoped would help was extremely hard but through all the pain and discomfort he could still give you a smile that would lighten your heart. He was able to make you feel better then anything you could ever do for him. It was horrible not having a diagnosis. We all kept hoping and praying that the doctors would figure out something because if you have a diagnosis then you have part of the answer and can work on a treatment. With no idea of what was wrong with Jake treatment was at best an educated guess. Through all of the months Joyce and Kevin remained the most devoted parents to both Emily and Jake. I can honestly say that I do not know where they got their strength and perseverance. They virtually lived at the hospital but were still home for Emily and all that kindergarten, Sparks and other activities included. Emily wanted Jake home as well and I remember she once asked her mom when was the hospital going to let Jake come home?
Things started getting really bad. The situation was critical and we were all afraid of the outcome. Then a miracle happened. Jake was given the new drug and as is stated in the article he shed his skin like a snake. The sores and rash that had covered his body were gone and replaced by beautiful, fresh, new baby skin. He was pink and adorable. The external changes were only the visible signs of improvement. All the underlying problems, abnormal blood work etc all changed to normal. It was Thanksgiving weekend and we all truly had something to be thankful for! Even today when I visit Emily and Jake it blows me away at how normal of an almost three year old he is! He does not stop. He plays, and laughs and colors and torments his big sister and shows that trademark Jake smile that charms everyone he meets. People actually randomly walk up to Joyce to comment on how sweet he is because of that adorable big smile. I am slightly bias but he is the smartest, sweetest, cutest, happiest little boy I know. Miracles can and do happen and thank goodness Jake is proof of that!
Jessie
To Jacob's family: your story brought tears to my eyes. I hope Jacob continues to have good health. He looks adorable!
always in severe pain, so my DR.& me always
thought it was my sactic nerve. So I worked 8 hrs to 16 a day & lived on Vicodin. once i was diagnosed with Fibro then came degenrated dics
disease, osteoporosis,osteo arthritisis, benign
famular tremors,chronic pain syndrome, I get about 2 hours sleep a night. When I take my meds during the day sometimes I can sleep 2 hrs
or 3. I'm tired all the time no matter how many supplements I take. I tried taking Lycria
75mg it made my head fill like I was flipping out. Also ended up with CHF in ER. I pray this new drug will works. I have been reading the research they are doing on Fibromyalgia, that it steams from the central neverous system. Please forgive my spelling.
I suffer from RA and I'm always in pain. Like George I'm on Naproxen. I'm going to ask my doctor about Kineret. George you should as well. I'm 70 and I want to live my life to the fullest and without pain. Don't give up so easy you may live to be 100 and in pain. Give it a try...
I thank Joyce for the story and for the hope of not living in pain. Naproxen doesn't work period.
I am now 74years old and I do not know how many more years I can survive, so I just let fate decide it.
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