Devastated.

That’s the word Lori Gross, of Grabill, uses to describe how she and her husband, Scott, felt when the doctor diagnosed their 18-month-old daughter Mallory with Pompe disease.

“I looked it up on the computer,” Lori says. “It was devastating at first. You think, ‘Oh, my gosh. My little girl only has a few years to live.’ ”

Most children do not live to be older than 7 after being diagnosed with Pompe, a genetic lysosomal disorder that prevents the production of enzymes – proteins that aid chemical reactions in the body. Sugars are not broken down and instead collect in the muscles, which causes atrophy.

Lori and Scott knew something was wrong when Mallory was 4 months old and couldn’t lift her head off their shoulders.

Congenital anomalies, such as Pompe, are conditions present since birth. They’re the leading cause of death in children ages 5 to 9, according to the Institute of Medicine of the National Academies, based in Washington. Some of these diseases are rare. In fact, some are so atypical that doctors learn alongside patients, which can make hope waver for a mother and father.

But for Lori and Scott, there was hope in a new drug that might slow the effects of Pompe. It wasn’t a cure, but it could very well be a lifesaver.

The drug’s development is the basis of the recent film “Extraordinary Measures.” It is based on the true story of the Crawley family, who had two children with Pompe disease, and their fight to push forward research for a treatment.

Mallory’s hope

“What’s your last name?” Mallory asks.

It’s one of the many questions the 10-year-old asks.

“How do you spell it? How did you know where I live? Do you have any children?”

The fourth-grader with chin-length brown hair, freckles and red glasses moves a lot. She shows how she can wiggle out of her wheelchair. Once on the floor, she wiggles into a split.

Every two weeks, for four to five hours, the A- and B-student leaves school early and, once at home, is hooked up to a chemotherapy-like drip, which provides the drug that keeps her alive.

Mallory became a part of a drug trial for Myozyme in April 2003. She was 3 1/2 – technically six months older than the 3-year-old age limit.

There are side effects to taking the drug, but so far they have all been good. The most obvious: Mallory’s heart, which had been too big, has shrunk to normal size.

However, there also are signs that everything’s not normal. For one, Mallory is extremely thin.

“I weigh 50 pounds,” she says matter-of-factly.

But this is also a good thing, her mother says. Were she chubby, it would be harder for her to get around in her wheelchair.

Mallory’s voice takes a few minutes to get used to and can be difficult to understand. Her voice is nasally, a result of the soft palate in her mouth, which doesn’t move, Lori says.

It can be fixed, but Lori will leave it up to Mallory if that’s a surgery she’d ever want to have.

Mallory doesn’t like surgeries. Once doctors saw how well she responded to treatment, she went through a particularly brutal surgery to implant metal inserts into her hips after years in a wheelchair ruined her own. Doctors hoped she would react well enough to the Myozyme that she would start to walk.

She still can’t walk, and Mallory remembers the chest-down, pink body cast all too well. She might think about the soft palate surgery when she’s older – maybe 34, she says.

Because Pompe is a genetic disease, Mallory had to inherit a gene from both Lori and Scott for it to show up. Her older sister, Alyssa, 12, does not have Pompe.

The Grosses knew if they conceived again, their baby had a 25 percent chance of having Pompe. Evan, 3, does not have it, though he and Alyssa may be carriers.

Myozyme treatments are so new that doctors cannot predict how long the medicine will continue to help Mallory. They are optimistic, however.

“Now they say, ‘Save up for college,’ ” says the little girl, who wants to grow up to be a veterinarian.

“Can’t you just get a scholarship so I don’t have to pay for it?” Lori asks, teasing her daughter.

“You have to help me pay,” Mallory responds.

Matter of life

Chris and Michelle Ruppert, of Fort Wayne, did not have the hope of a drug for their daughter, Rachel, who was diagnosed with Tay-Sachs disease when she was a year old.

Thousands of children are diagnosed each year with a terminal illness. More than dealing with and preparing for an inevitable death, families with terminally ill children have a bigger struggle: day-to-day life.

Like Pompe, Tay-Sachs is a lysosomal disease, except the enzyme Rachel lacked would have broken down fatty acids that instead gathered in her brain.

Because there is no Myozyme equivalent for Tay-Sachs and no real treatment to extend life – such a remedy is at least five years away, Michelle says – the biggest choice was how far to take the medicine, Chris says. At some point, quality of life has to triumph over quantity.

“How long do you keep your child alive, versus do you give them the best life you can?” he says.

Chris saw parents go through various treatment stages that would nick away at their child’s quality of life, such as feeding tubes, blood transfusions, and spending weeks or even months in the hospital. Chris says he and his wife fell in the middle. They wanted to keep Rachel going as long as they could – as long as she was alert.

The quantity vs. quality debate is one that counselors discuss with parents, says Joan Haase Holmquist, professor of pediatric oncology nursing at the Indiana University School of Nursing.

Parents need to determine their priorities and goals for their child: Is it to hope for a cure? To slow the growth of the disease? Prolong life? Have a good time with the child?

“There’s a lot of decision-making involved with (this),” Haase Holmquist says. “The earlier (parents) can begin to talk about these things, the better. I can’t say this strongly enough: Hope is really, really an important thing to sustain.

“Parents tell us a lot that they wish they had talked sooner about what their decisions might be and always underscoring the hope that there’s a cure. If that doesn’t happen, what other options are there, options to control the disease so they can have good, quality time with their children?”

Parents also should have these discussions with their children. How kids deal with this news depends on their age – older children are better able to understand what is happening than younger children – and they will often take their cues from mom and dad regarding how to handle themselves, Haase Holmquist says.

“Children often have a lot of things they want to ask about and say,” she says, “and parents sometimes need some help to learn how to open dialogue with children about their illness.”

One way the Rupperts chose to deal with Rachel’s disease was to have a giant party for her fifth birthday.

“She’s never going to have a wedding,” Chris says, “so let’s make this her wedding.”

There were 300 people and a three-tiered birthday cake. There were clothes – enough for five or six children, Michelle says. Stuffed animals. And there were Dr. Seuss books. Rachel loved Dr. Seuss books, Chris says. He read them to her all the time.

‘Worst’ diagnosis

When Rachel was about 7 months old, her parents noticed development problems. She cooed and laughed when her brother Alex would make funny faces at her, but she couldn’t turn over.

The family brought her to Riley Hospital for Children in Indianapolis two months later where doctors tested for muscular dystrophy. They didn’t consider Tay-Sachs because it is most common among Jewish families. Indiana doesn’t have a large Jewish population, and neither Chris nor his wife is Jewish.

“There’s about one case (of Tay-Sachs) every other year in Indy,” Chris says. “(Doctors) didn’t even have any good background. You view the medical world as all-knowing. They were looking things up on the Internet like we were.”

The first inkling came from the eye doctor, who found a cherry red spot on Rachel’s eye, a common indicator of lysosomal diseases. She shared her Tay-Sachs suspicion, and Michelle started to research the disease. The more she learned, the more Rachel’s symptoms fit.

That evening, the neurologist called the Rupperts with results from Rachel’s blood tests. She confirmed the eye doctor’s suspicion. It was Feb. 9, 2005.

“They tell us it’s nothing and then come back and say it’s the worst thing it can be,” Michelle says.

The family had just moved into a new home. Michelle sat in the furniture-less living room and cried.

Michelle quit work as a part-time dental hygienist to take care of her daughter, and day nurses would fill in to help. In their downtime, Michelle would ask the nurses to read to Rachel.

Rachel attended school – something rare for Tay-Sachs children, Michelle says, but she wanted her daughter to do as much as a “normal” child would. The family never intended to shelter her; she accompanied them on Disney cruises, to New York to see the pope, to the Bahamas and Mexico.

“People we met (who had a Tay-Sachs child) would keep them at home,” Michelle says. “We took her everywhere. We didn’t really act like she was sick.”

In baby pictures, it’s impossible to tell that Rachel is sick. A progression of photos through the years, however, shows that it became increasingly difficult for Rachel to hold up her head. Her hands drew in toward each other at the wrist. Her eyes started to wander, and she lost the ability to make eye contact.

The day Rachel died started like any other, Chris says.

“It was actually kind of sudden,” he says. “I always imagined she’d decline (slowly). She had an episode in the morning. I had already left for work. All the monitors starting beeping and ringing. (Michelle) called 911.”

Rachel died of cardiac arrest May 1. Her heart stopped.

Cardiac arrest is the leading cause of death among adults older than 40 in the United States.

Rachel was 5.

‘Sent to heaven’

For what would have been Rachel’s sixth birthday, the gathering on this cold January day is considerably smaller than last year’s.

Friends and family gather at St. Patrick’s Catholic Cemetery in Arcola for a balloon release. The cemetery is a small piece of land with a muddy U-shaped drive and few plots. Rachel’s large headstone stands out, as Michelle said it would, because it is covered with birthday balloons.

It is here that Chris talks about his daughter.

His voice cracks only once, when he explains that she is buried beneath a tree because she loved trees. Because when he would take her outside, she’d look up and her eyes would get as big as saucers.

Michelle passes out 16 brightly colored balloons that have a note card attached at the end of each ribbon. The card reads “Sent to heaven for Rachel Ruppert” and lists the Web site NTSAD.org, the National Tay-Sachs & Allied Diseases Association Inc. Michelle hopes people will find the balloons and visit the site.

Each person shares a memory of Rachel before releasing the balloon. Michelle is the last to release hers.

“My favorite memory is of Rachel laying on my chest at home, and I remember how much I wanted a baby girl.”

In less than a minute, the balloon is a pinpoint in the sky.

jyouhana@jg.net