Toddler, family deal with blood disorder
MAHOMET — A happy Joe Heath doesn't want much for his second birthday — just blood.
A bone marrow donor is also on his wish list, but if he can't find a match right away, he and his parents would be thrilled with gifts of blood so others may have the life-saving opportunities Joe has had in the last year.
The Mahomet toddler is afflicted with a rare inherited disorder called chronic granulomatous disease, which up until a few years ago would probably have kept him from reaching adulthood.
His parents, Jeremy Heath and Jennifer Difanis, are slightly less worried about his life expectancy now that they have become walking encyclopedias of information on CGD.
"It's not a developmental or degenerative disorder. Aside from a pee bag, Joe is a totally normal toddler. This is a quality of life issue for Joe," Difanis said.
"It's considered treatable," Heath added.
That's a great relief for them, especially since they learned two days before getting Joe's official diagnosis that son No. 2 is on the way in May. And they now know that he too will have the disease.
An online explanation from Medline Plus describes CGD as a "genetic disorder in which certain immune system cells are unable to kill some types of bacteria and fungi, leading to long-term and repeated infections."
Before they received the diagnosis in late July, which took almost nine months to pinpoint, the family had been in and out of doctor offices and hospitals, both locally and in Peoria. They heard possibilities like Crohn's disease, rheumatoid arthritis and, eventually, cancer.
When an inflamed mass was found on one of Joe's kidneys, doctors determined the kidney had to come out.
Heath and Difanis are both police officers. Heath works for the village of Rantoul and Difanis, a daughter of Champaign County Judge Tom Difanis, for the city of Urbana. Used to dealing with the seamier side of life professionally, they reacted as most parents of sick children do.
"It started off with frustration because no one could figure out what was wrong," Heath said. "Then, when he was diagnosed with cancer, pretty much just anger. Then, a little bit of relief when they finally gave us a definite answer that this is what he had. It was not a great answer but at least it was an answer.
"I can't tell you when but at some point I made up my mind, it is what it is. I'm not going to let myself get down. It doesn't help Joe and it doesn't help Jennifer. It doesn't help any of us. We just have to make the best out of it."
With their regular work schedules, the patrol officers don't see much of each other. However, they've been together a lot in the past year because of Joe's illness. Heath estimates that they've spent at least two months either in hospitals or at doctor appointments.
The frequent visits began when Joe was 10 months old. A routine checkup revealed he was severely anemic. When two months of iron supplements didn't work, they started seeing specialists in cancer and autoimmune disorders.
In June, a childhood rheumatoid arthritis doctor in Urbana "took one look at Joe and said there's something wrong," Difanis said.
As first-time parents, Difanis said they considered Joe "a stoic little man," not a gravely ill child, even though their 16-month-old son was pretty small and had not walked.
"We'd been living with the anemia so long, we didn't think this is a lethargic child. The doctor recognized it more readily than we did. He also caught a heart murmur in Joe.
"What else?" Difanis said they thought.
The "what else" was a tumor on Joe's right kidney that had also attached to his upper thigh, explaining why he hadn't walked.
"Every time he moved his leg, he yanked his kidney," Difanis said.
The tumor discovery by a doctor in Urbana led to an immediate admission to OSF St. Francis Medical Center in Peoria on June 21. But before surgery could be done, Joe's blood level had to come up.
"Halfway through the first transfusion, for the first time in months, my child got up and wanted to play," said his overwhelmed mother.
"I didn't cry but it made me very happy," said Heath, who was used to his son playing for 15 to 20 minutes, then sleeping a couple of hours.
Getting two blood transfusions gave Joe the strength to get through the battery of tests to find out if he had cancer, then to get through the surgery to remove his kidney.
Only two weeks after the kidney removal, doctors found that Joe's other kidney was shutting down due to a blockage in a ureter between his kidney and bladder. Since then, he's had a nephrostomy bag to keep the urine from backing up.
All those things combined made another infectious disease doctor in Peoria take a closer look "because so much of what was going on with Joe was not typical," Difanis said.
In late July, they got the preliminary diagnosis of CGD.
No. 2 on the way
Learning that it was inherited — it's generally passed from mothers to sons — both Difanis and her son had more blood tests. The disease had not surfaced in previous generations.
According to the National Institutes of Health, CGD is estimated to occur in 1 in 200,000 to 250,000 people worldwide.
"I got my blood results back that I was a carrier. By that time, we already knew I was pregnant," she said.
Joe's doctor began a regimen of powerful antibiotics and steroids that have kept his inflammations and infections pretty much in check since summer.
Since his release from the hospital in Peoria after the kidney removal and the scare with the other kidney, Joe has gained six pounds and grown three inches.
He gave his mother one of her best birthday presents ever on Nov. 21, when he walked alone for the first time.
"The week before he was crawling. The next week he went up the stairs by himself," she said.
As Joe held his own, his doctor in Peoria contacted a colleague considered the country's leading expert on rare immune disorders, who got Joe into a clinical program at the National Institutes for Health in Bethesda, Md. The family has made two visits there with Joe so far. They do not have to pay for the research-based treatment at NIH as the doctors there are learning from Joe.
They've also had the conversation about what they can expect with son No. 2.
"He'll have the disease," Heath said. "The way the doctor put it, is that Joe is a worst-case scenario. Since we know (the second child will have it) we can keep up with the disease. As soon as he's born, he'll go on antibiotics, then later on steroids."
As of today, the only known cure is a bone marrow transplant, and Joe has about a year before that becomes critical.
"We haven't started the search for bone marrow," Difanis said.
Since granulomas can attack almost anywhere, the first order of business was to keep them from cropping up.
"His were very isolated in the urinary tract. We wanted to get a handle on these before we branched out to do anything else," Difanis said.
"He's doing well on medication. He's not an emergency case. That gives us the luxury of getting the best-case scenario lined up. We have this window of opportunity. We don't know where we'll be this time next year."