Skip to content
Link copied to clipboard

Mom’s heartbreaking request: Help our sick kids save future children | Ronnie Polaneczky

"Our children can be part of the studies that save future children."

Mindy and David Hoffman snuggle daughter Ruby, 4, in their backyard.
Mindy and David Hoffman snuggle daughter Ruby, 4, in their backyard.Read moreAVI STEINHARDT

Mindy Hoffman lives in York, Pa. Laura Mellor lives 8,600 miles away in the South Pacific islands of New Caledonia, just east of Australia. They've never met in person.

But the well-being of some very sick kids hangs on whether Hoffman is able to bring Mellor and her daughter to Philly next month for a medical conference at CHOP.

"This is life and death," says Hoffman, 29, of her frantic mission to help the Mellors raise $8,000 to fly here from halfway around the globe.

Hoffman, 29, knows about life and death.  She and her husband, Dave, 31, are parents to Ruby, 4, who has leukodystrophy — a rare, degenerative, and incurable neurological disease. Kids with leukodystrophy lose the ability to walk, talk, and eat independently.

As for a prognosis, the earlier a child is diagnosed, the shorter the life expectancy.

Ruby was diagnosed at just 16 months old. She can no longer speak, feed herself, or move on her own. The Hoffmans know what's coming, even if they don't know when.

"When she was first diagnosed, our goal was for her to walk," says Mindy. "Now, we focus only on today so she can just be a child and have fun."

Like so many parents of kids with diseases too rare to inspire massive research, the Hoffmans have had to become experts on Ruby's disease via kinship with families they've met online through leukodystrophy support groups.

"We post pictures and videos of our kids — we carry each other," says Hoffman. "This dark diagnosis has brought so many good people together."

Laura Mellor is one of them. A single mom of six, her youngest child, Tabriz, 4, has the same form of leukodystrophy that Ruby has, known as H-ABC (there are 50 varieties). Only about 100 children worldwide are known to have it.

Mellor befriended Hoffman through the parents group. She was riveted by photos of Ruby.

"She reminded me so much of Tabriz – a beautiful little girl you just want to hug and kiss!" Mellor says.

Mellor was envious of the world-class treatment Ruby was receiving at CHOP, home of the Leukodystrophy Center of Excellence. In New Caledonia, Tabriz is seen at a community hospital.

"They're doing their best with the information we have; if I ever need anything, I just ask and someone tries to help," says Mellor.

"But it would mean everything if Tabriz could finally meet doctors who know more than I do about her condition and could give me some idea of where we are now, where we should be going and how to best help her live the fullest, happiest, and most comfortable life."

This is where you come in, Philly. You have the chance to help improve odds for little kids with leukodystrophy – if not for Ruby and Tabriz, then at least because of them.

On Oct. 27, CHOP's leukodystrophy center is holding its first-ever conference on the H-ABC form of the disease. The center needs as many H-ABC kids as possible to journey to CHOP, where they'll be evaluated by clinicians who've seen enough children with leukodystrophy to recognize the disease's many nuances.

Many of these kids, like Tabriz, have never been seen by a leukodystrophy expert — and their families can't afford to travel to Philly.

The staff will use the data they collect via family histories, testing, and exams to design a clinical trial of H-ABC treatment. This would be huge: So few children have H-ABC that it has been difficult to gather enough data to design a trial the Food and Drug Administration will approve.

New trials are needed to build upon massive breakthroughs in leukodystrophy research in the last five years alone, says Maria Kefalas, cofounder with her husband, Patrick Carr, of Bala Cynwyd's Calliope Joy Foundation. Named for their daughter (who's nicknamed Cal),  it raises funds to help children living with leukodystrophy through improved care, research, and family support.

"When Cal was diagnosed in 2012, there was nothing on the horizon – there was no hope," says Kefalas, whose daughter is now in hospice care.

In worldwide clinical trials since, though, gene therapy has shown a thrilling ability to "slam the brakes" on the disease, says Kefalas, especially in children who carry the genetic mutation that causes the illness but have not yet developed symptoms.

"It's astounding," says Kefalas. "We're witnessing the creation of a completely new era in medicine."

Hoffman knows that these breakthroughs will be too late to save the lives of Ruby, Tabriz, and Cal.

"But our children can be part of the studies that save future children," says Hoffman, with an aching generosity.

So far, about 50 families are expected to attend the conference, says CHOP's Omar Sherbini, a leukodystrophy project manager.

Hoffman wants the Mellor family to be among them. If you do, too, you can make a tax-deductible donation to the Calliope Joy Foundation's page and designate that your donation is for "CHOP-conference family travel expenses."  (Unlike, say, GoFundMe donations, all donations via Crowdrise go directly to a designated charity, not to individual recipients.)

"I live only two hours from the best pediatric hospital in the world," says Hoffman. "Tabriz and other children are not as fortunate."

Let's change that.