Their son was about 6 months old when they finally got a diagnosis.
Jake, the couple was told, had Pallister-Killian Syndrome, or PKS, which is such a rare chromosome abnormality that there were only 50 known cases in the world at the time.
All Michael and Nicole Zane could find online about PKS was a grim little entry from an old medical journal.
There was no collage of smiling kids, as there is now. No uplifting stories of joy and perseverance. No calendar of fundraising events like golf outings, bike runs or carnivals.
There were no bi-annual conferences in Chicago, where the Zanes, who live in East Islip, would later meet some of the most inspiring and loving, caring human beings they believe exist in this world.
Just that grim little paragraph from the National Organization for Rare Disorders.
Today there’s no trace of that entry on the internet for families that might have just received a PKS diagnosis.
Today, these families quickly learn that life goes on, and that happiness is not only possible, but — if realized — can be more profound than they might possibly imagine.
The Zanes and the other founders of PKS Kids 10 years ago have everything to do with that.
months of uncertainty
Nicole Zane was 29 and had a normal pregnancy with no signs of complications until a few hours after Jake was born.
The doctors and nurses knew something was wrong.
Actually, a lot was wrong, but since PKS isn’t detectable in the blood, no one knew what was causing the abnormalities — such as (what they thought was) a cleft palate, as well as a large fontanelle
For six months, as Jake failed to progress as most infants would, his mother held onto a somewhat painful hope that everything was going to be OK.
“I was very detached for the first six months before I got his diagnosis, because I had it in my head he was going to be fine, because they found nothing,” she recalled.
Still, he wasn’t making eye contact, had hearing loss and low muscle tone.
“I was hanging onto the fact that all the chromosomal tests came back normal, so I thought we were out of the woods when it came to any kind of syndromes or anything like that,” she recalled.
Then at 5 months old, Jake started having seizures, even though his EEGs didn’t show any seizure activity.
It was their geneticist who had recalled reading something about PKS, which could only be detected through a skin biopsy. Pallister-Killian Mosaic Syndrome is a chromosome abnormality when a tetrasomy of the short arm of chromosome 12 (12p) occurs for no known reason.
After being told of it, Nicole Zane read the description of symptoms online (in that previously mentioned journal entry) and among them was hypopigmentation.
“Jake has this mark over his eye,” she said she had realized, “and I panicked. I ran back up to the computer and I just broke down. This was it; this is what he’s going to have.”
After the tests came back, the geneticist called and asked Nicole Zane if she was sitting down.
The Zanes have a sign that hangs in their eat-in kitchen that reads Life is Good, but they don’t need to repeat this over and over to believe it.
They know it, and Jake, now 13, as well as their very patient younger twins, prove this to them every day.
“When you hold his hand, lay with him, play with him, kiss him, hug him, tickle him, get that quick few seconds of direct eye contact,” Nicole Zane said. “And you see and feel him respond to you, and see him smile and hear him laugh, it makes everything worthwhile.
“His laugh and smile are infectious – a true gift that warms your heart and makes your day brighter.”
These are words she and Michael Zane have been sharing with other families whose children have been diagnosed with PKS.
That number has grown to an estimated 300, thanks to the increased awareness, since for so long the syndrome had gone undiagnosed.
Michael Zane — who serves as president of the PKS Kids, which is a not-for-profit group that the Zanes and five other families formed in 2006 — said the group makes sure the PKS Kids website appears at the top of any online search for PKS. (As opposed to something more bleak.)
Reflecting on a decade of work, Michael Zane said he’s most proud of the immediate availability of information for parents of recently diagnosed infants.
“Not a scary medical journal entry from 40 years ago, which is all we came across,” he said.
Then there are the conferences in Chicago.
“That really is a game changer for the families,” he said. “We’ve made lifelong friends that we consider family now. And there is nothing that compares with being with those kids and these parents who are exactly in the same boat, and they’re from all over the world.”
Thirdly, he said the group has helped in medical research. There are now at least four published studies on PKS, he said. Before 2006 there were none.
He also noted the diagnosis makes things much easier for parents seeking services.
“It’s just harder to get services and fill out paperwork and forms and apply for grants — which we all need to do — when you don’t have a diagnosis,” he said.
what a smile
Something clicked for Nicole Zane after Jake’s diagnosis. She no longer lived in a sort of state of denial — or mourning, as a therapist had told her.
“You’re mourning the loss of the baby you were supposed to have,” the therapist had said.
For the first time, she let the true love of a mother flow through her.
“I had been trying to fix him in my head,” she said, but now she was realizing that wasn’t possible. “And I just wanted to do anything I could to make his life better, to make him comfortable.”
That’s what she and her husband, and their 11-year-old twins, have been doing ever since,
What they might not have expected is the joy Jake would bring to all their lives, as well as the lives of teachers, doctors and aides — even strangers they’ll meet as they go about their lives.
As for his needs, Jake is non-verbal, though has been responding for requests for high-fives and other forms of communication.
He can see, but has trouble processing what he sees. He cannot walk or sit up — though he is making slow progress toward sitting up. He also suffers from frequent seizures and acid reflux.
As for an everyday routine, Jake stays up late — and with that, often keeps mom up — and sleeps in. He sleeps with a pulse oximeter alarm because during some seizures, he stops breathing.
“Thankfully this only lasts a minute, but it feels like an eternity,” Nicole says.
He receives physical therapy every day, eats pureed foods, plays with toys and watches TV.
And he likes to smile.
And when he does, everyone in the room smiles with him — because they can’t help it.
“It’s hard to explain,” Michael Zane says, “But when it happens, you get it. And it changes you, even if only for an hour or a day, or perhaps longer for some people, we hope.”
“Jake has taught us a whole different perspective on life,” he continued. “We don’t get stressed about the things other people have time to worry about.”
In the next 10 years, Michael Zane said he expects the PKS Kids group, as well as the doctors — primarily those at the Children’s Hospital of Philadelphia — to continue sharing research and experiential knowledge to help kids’ and families’ lives be more comfortable.
“I wouldn’t say there will be a cure — but you never say never — but it’s all about minimizing hardships,” he said.
“We knew our lives were forever changed the day Jake was born, but God had a different plan for us,” said Nicole, who readily admits how exhausting and demanding Jakes’ care can be.
But, “Jake helps put things into perspective,” she added. “He has taught us the true meaning of unconditional love, and we honestly couldn’t imagine life without him.”
“We love him beyond words just the way he is,” she said, “a true angel on earth.”
Top photo: Nicole and Jake Zane at their East Islip home. (Credit: Michael White)
Read more about Jake and his progress at the Jake’s World blog.