Local family struggles with Sanfilippo

Shannon Tootill was a beautiful baby. Always smiling, the blonde-haired cherub walked and talked right on schedule, and learned the alphabet by age 2. But by age 4 she began lagging behind other children, talking less and forgetting skills once learned.

As Shannon got steadily worse, An and David Tootill found themselves enveloped by a health-care whirlwind, with diagnoses flying at them from every direction: It was a hearing problem. A behavior problem. Autism spectrum. Attention Deficit Hyperactivity Disorder. Retardation. Child disintegrative disorder.

"Every year, it was something worse, a more damning diagnosis. ... I think we got every diagnosis known to man before they found it," An said.

"It" was Sanfilippo syndrome, one of several dozen progressive metabolic disorders. Typically, children with the rare disorder die before their late teens after a relentless degeneration robs them of their cognitive functions, their ability to talk, walk and even chew. There is no treatment.

Shannon, who still walks and can talk a bit, isn't able to understand why she and her family are leaving Mercer Island on Sunday for the University of Minnesota in Minneapolis. There, she'll undergo three days of rigorous tests in the first U.S. clinical study of patients with the disorder — even though her parents know any treatment may come too late for Shannon.

"Upfront, we tell them, and they understand it, that this may never help their child," says Dr. Chester Whitley, the study's principal investigator.

In Minneapolis, Shannon will endure lumbar punctures, MRIs and various neurological and physical measurements, some under anesthesia. Over the next year, she and her family will return twice for additional rounds of tests.

David and An Tootill know these won't be easy trips.

Going anywhere with Shannon, who can be as balky and obstinate as a 2-year-old, shouting "No!" and pouting when she doesn't get her way, can be taxing. And worrying: She's a beautiful, lithe teenager with the mind of a toddler. Strong and willful, she can disappear in a flash — and has done so on two outings, requiring police searches and hours of frantic worrying by her parents.

Most difficult is knowing that because this is a study to learn more about how the disorder affects patients — not to test a treatment — it may yield nothing in time for Shannon.

Even so, the Tootills have no doubts about enrolling.

"It's a big deal," An Tootill concedes. "But if we don't do it, who will?"

Courageously facing obstacles

Dr. Michael Raff, medical director of the new MultiCare Genome Institute in Tacoma, says he's always struck by the selfless attitudes of families affected by Sanfilippo syndrome.

"They are very generous with their time and efforts, which is all the more remarkable because they're already dealing with so much," he says. "Even if they can't do things that will make a difference now, they want to do things that will make a difference later" — for others.

Like the Tootills, many have endured a diagnostic odyssey as they go from specialist to specialist, without answers, as symptoms steadily worsen. The misdiagnoses pile up — accompanied by pills, more pills and new pills — but never any relief.

Sanfilippo syndrome, which affects about 1 in every 70,000 live births, is technically known as a lysosomal storage disease, a group that includes Tay-Sachs disease. Although individually each disorder is rare, together they affect perhaps 1 in every 5,000 to 10,000 babies.

Each disorder has its own progression, and with a few exceptions, outcomes are dismal. In part because there's no treatment — although a potential therapy is now in early tests in Europe — Sanfilippo syndrome is not included in routine newborn screening.

The disorder comes from a recessive gene, so both parents must be carriers.

Raff likes to remind parents that we all have wayward genes. "Everyone on this Earth is a carrier of some potentially severe genetic disorder — there is no such thing as a perfect set of genes."

"A medical hero"

An, then a graphic artist, and David, a software architect, met in an elevator in California and married at ages 35 and 40. They had no idea they were carriers. Nobody in their respective families had ever had a child with another carrier, so the gene remained hidden from view.

After 21 hours of labor, An delivered a perfect, beautiful baby.

For the first few years, Shannon was a curly blonde-haired delight.

But by preschool, she began to change — subtly at first, then more rapidly, regressing and becoming alternatively hyperactive and sullen.

Shannon was 9 when the Tootills finally got the diagnosis, which both relieved and horrified them.

"It's such an ugly process over the years," An Tootill says. "First we lost the child who was going to write book reports and try out for the school play ... and then you get this diagnosis and find you're going to lose the child who even recognizes you before you lose her altogether."

Now, the Tootills go back and forth about the future.

On one hand, "I think it's a miracle she's doing as well as she is," says An.

She's stayed relatively stable for years, they both say, with the help of an attentive public school and a private special-education program called CHILD (Children's Institute for Learning Differences) on Mercer Island.

Progress is measured in small increments.

An calls Shannon, who is in the other room.

"Whaatttt!?" Shannon answers irritably, sounding like any teenager.

"That's a miracle right there!" An says, happily.

Other children they've known with the disorder — if they're still alive at Shannon's age — are unable to talk or walk.

"She will end up in a wheelchair," David says.

The bottom line: "We don't know for sure what's in store for Shannon," An says.

Except for next week: three days of testing, one of them beginning at 5:40 a.m.

Like other parents of children with such rare disorders, An Tootill has long been frustrated that the research world hasn't helped Shannon and others like her.

The heartbreak of such parents caught the attention of actor Harrison Ford, who produced a recent film called "Extraordinary Measures" about one father who quit his job to find a cure for his kids.

Now, An is thrilled that there is finally a study — even if it is just preliminary.

"Going from nothing to something is one of the biggest jumps you can make — and there's been nothing for so long."

No matter what, their daughter's participation will help other families someday, An Tootill says.

"Shannon is going to be a medical hero."

Carol M. Ostrom: 206-464-2249 or costrom@seattletimes.com