Jake Miller will celebrate his fourth birthday with a rip-roaring backyard carnival in Mount Prospect Sunday.

That’s because Jake has earned it.

Jake was born with a rare genetic disorder known as Isodicentric 15, now a diagnosable cause of autism, and he’s working hard to overcome its challenges.

“He couldn’t take a bottle or breast feed well because he couldn’t suck when he was born, so we were feeding him with an eyedropper. And, he was allergic to everything, soy as well as milk,” said Jodi, Jake’s mother.

“We knew something was wrong when he wasn’t reaching his milestones. For instance, he didn’t roll over. He never smiled; he was stoic. But he was such a ‘good’ baby, he didn’t even cry — not even for food,” she added.

Although both Jodi and Jamie, Jake’s father, told their physician that Jake was not progressing the same way as his older sister, Sarah, now a 10-year-old fifth-grader at Fairview School, the doctor told them not to worry because children develop differently.

However, when Jake was five months old, he suffered a seizure.

“We rushed to an emergency room and medical personnel began testing this, that and the other. We know now that poor muscle tone and seizures are indicative of a lot of genetic disorders, but they never wanted to test him for a genetic disorder,” Jodi said.

“They wanted to do invasive tests, like muscle and nerve biopsies, and a spinal tap, looking for a degenerative disorder before they ever did a blood test, which is how one tests for a genetic disorder. Out of ignorance, I said ‘What about genetic testing?’ and the geneticist asked, ‘Why? He looks fine,”she added.

Little known

However, that is what finally determined Jakes’s problem.

But even when the geneticists diagnosed his condition, they told the Millers that it was so rare that they know very little about it.

That didn’t provide much direction for Jake’s parents, neither of whom had medical training. Jodi was a marketing manager at Cahner’s Publishing Co., Des Plaines, before Jake’s birth. Jamie is a senior budget analyst at United Stationers, also in Des Plaines.

“We were left on our own and just desperate. We both come from large families that had no genetic problems. Since then, more than three years ago, we've met five or six other families whose children were diagnosed with Isodicentric 15 — and they also were told nothing is known about it,” Jodi said.

So the Millers did more than find out about it.

They joined IDEAS, an acronym for Isodicentric 15 Exchange, Advocacy and Support, which is a network of parents and professionals who provide information to families of those diagnosed with the condition or other abnormalities of Chromosome 15.

“Now, I am the editor of the newsletter and working on a brochure to educate geneticists, genetic counselors and parents all over the country about it,” said Jodi, also a member of the board of directors.

Chromosome 15

IDEAS defines Isodicentric 15 as a chromosome abnormality in which extra genetic materials from chromosome 15 causes a child to be born with 47 instead of 46 chromosomes in each of their cells — a condition that occurs in one out of every 8,000 live births.

The extra chromosome is made of a piece of chromosome 15, which has been duplicated end-to-end like a mirror image. The extra genetic material is thought to cause the symptoms seen in some people with the condition, according to IDEAS literature.

Although some people with small duplications seem to be unaffected by them, those with larger duplications may have poor muscle tone, developmental delay, seizure disorders, mental retardation, autistic features, speech and language delays, sensory processing disorders, small size for their age, scoliosis, ADD/ADHD and anxiety disorders, as well as widely spaced eyes with skin folds at the inner corners, unfolding of the ears’ edges, short, upturned noses with a flat bridge, and full lips.

“Since Jake was six months old, he has been fighting adversity. He has been taking speech twice a week, occupational therapy twice a week and physical therapy twice a week,” Jodi said.

“Jake also had developmental therapy, which is play therapy that encompasses multiple areas, but now he goes once a week to Gillet School, a special needs school in Arlington Heights, and has applied behavioral analysis, a therapy for children with autism, which breaks skills down to tiny steps and works through repetitiveness,” she added.

While all the therapy seems to be helping Jake, the prognosis for his future is uncertain.

“What the doctors have told us was ‘Jake will be the best indicator of what Jake will be.’ We didn’t like hearing that when we were first told, but we have found out that it is so true, because everyone who has it has such variations,” Jodi said.

Now Duke University researchers, who have been studying autism for seven years, have discovered Isodicentric 15 genes in 2 percent to 6 percent of autistic children, Jodi said.

“Usually autism has no explanation. So the researchers think they might find something in these children that will solve the mystery of autism in general. It is a real pioneering thing,” Jodi said.

Raising funds

So the Millers have been trying to raise money for research to help children like Jake and to help IDEAS spread the word about Isodicentric 15 across the country.

Pizza Huts throughout the Chicago area donated 20 percent of the sales of those backing the cause on April 9. The Millers also brought friends and family members to the Palatine restaurant, where they raffled prizes donated by community businesses.

“About 150 people came — some we barely knew! A waitress stayed after her shift to help us decorate ... When the Prospect High School Knights football team heard about it, they changed their plans to dine elsewhere and came to the Pizza Hut, too! People were so nice,” Jodi said.

The effort raised about $2,500 and donations are still coming.

“It is not that if I could change Jake’s condition, I wouldn’t, but I have never seen a child so tender,” Jodi said.

“He loves people and loves everything around him, although he has had to work so hard just to reach for what we take for granted. So when he turns 4, he will have the biggest, best birthday ever. Hot dogs! Pop corn! Cotton candy!”

For more information about the organization, visit its Web site at http://www.idic15.org/. Contributions may be sent to IDEAS, c/o Paul Rivard, P.O. Box 4616, Manchester, NH 03108.