For Pompe baby, trial leads to triumph
Grante Robert Nikolaus “Nikko” Elmore, age 2 1/2, keeps doing things he’s not supposed to do.
To begin with, he wasn’t supposed to have been born. His mother, Carolann, was told that she would never get pregnant because of having fibroid tumors. When Nikko broke that “rule,” doctors warned Carolann there was a good chance she’d lose the baby, and she spent much of her pregnancy in bed or in the hospital. But Nikko hung in there.
Nikko was supposed to have been born via surgery, but noooooo! He and Carolann pushed their way through childbirth, breaking her tailbone in the process.
And then everything was supposed to be fine. Nikko broke that rule, too.
A 'floppy’ baby
Most parents of babies with Pompe’s disease come home from the hospital not knowing their newborn has a fatal disorder and will likely die by toddlerhood (see “Pompe’s Disease”). The infantile form of the disease reveals itself fairly quickly, however.
“About 2 months old, we started seeing signs,” Carolann recalls. The family lives in Concord, Calif., near San Francisco. Nikko couldn’t breast-feed and sometimes choked on his bottle.
“He couldn’t stand to be on his stomach and he couldn’t push up,” his mother says. “I started asking my friends about their babies, did they push up at this age?
“Another thing is that he was very warm all the time. I especially noticed it when I pulled him out of his car seat. The doctors said that Pompe babies — because their hearts are enlarged and their respiratory systems are challenged — they’re working so hard to breathe it’s like an adult running a 10-mile run.”
By the time Nikko was about 5 months old, “the doctors were all calling him a ’floppy baby,’” says his father, Robert. “They thought there might be something missing and they were running some tests.
“But in the middle of that, he got sick and was rushed to the emergency room. They did an X-ray and saw his enlarged heart. With the enlarged heart and the floppiness, the doctors put it together and said they thought he might have Pompe disease. They hit it right on the head.”
The formal diagnosis was officially delivered in a hospital conference room, at a long table surrounded by a team of medical experts — a cardiologist, pulmonary specialist, genetics team and a social worker. Carolann remembers the row of tissue boxes down the middle of the table. The doctors said there was no treatment. Their prediction: Nikko would die by his first birthday.
Obviously, they didn’t know Nikko.
A moment in time
First the Elmores hit the hospital chapel, then they hit the Internet. With the help of friends, they learned about Genzyme’s potentially lifesaving trials to replace the enzyme missing in Pompe (see “Pompe Disease: A Killer Yields to Modern Medicine”). Only eight babies from around the world would be given this promising new miracle.
The cut-off age for eligibility was 6 months old. Nikko was 6 1/2 months. Under the FDA-approved protocol, Nikko wasn’t supposed to be in the trial. Another rule.
His parents were incredulous. “There’s an enzyme out there that could save him but now he can’t have it because he’s two weeks too old?!” They pressed their case and realized that the FDA had lifted the protocol. Nikko, at 8 months old, became one of the oldest babies in Genzyme’s second Pompe’s disease trial. The seven other babies came from China, Colorado, Ohio, South Africa, Germany and France.
On June 8, 2001, Carolann and Nikko flew to Duke University in Durham, N.C., and settled in for a five-month stay. Robert ran his sheet metal, heating and air conditioning business for three round-the-clock days, then flew out every single weekend.
Once a week, Nikko got an infusion of the enzyme. “With the first infusion, we saw a difference,” Carolann says.
“I’ll never forget it. It was day 6 after the infusion, in the middle of the night. Nikko woke up and I picked him up and he pushed off my shoulder and looked at me for a brief moment in my eyes. He couldn’t do that before!! It was such a moment in time.”
Nikko has done well in the trial. His heart has reduced in size by 50 percent. He can sit up, play with toys, roll over, move his legs — a lot of things he couldn’t do before the treatment. He can speak a few words and signs 45 more.
Despite a number of serious bouts with pneumonia, his respiratory system has held off a tracheostomy. His medical team in California “has been amazed. He’s just a different baby,” his mother says.
Nikko’s progress has been different from that of younger babies in the clinical trial. Those who were infused around 3 to 4 months old are walking and eating table food, Carolann reports (she regularly keeps in touch with other families in the trial via telephone). Nikko can’t walk and has a gastrostomy-jejunostomy (G-J) tube for food and medication.
“I wonder if it will just take him longer or if his muscles were just too damaged,” Carolann says. “The leg muscles are the biggest muscles in the body, so they’ve stored the most glycogen. He keeps making milestones but then he gets sick and it’s like two steps forward, one step back.”
Nikko uses an in-exsufflator (a machine that assists in coughing) four times a day, a nebulizer for respiration medications up to nine times a day, and is on a BiPAP machine for breathing help when he sleeps. At other times he gets oxygen delivered by a tube in his nose.
Nikko appears to be cognitively normal; in fact he seems a little brighter than normal, his mom says. He sits and studies his books, is learning sign language at the rate of about two signs a week, “and when we say our prayers, the first ones we pray for are Genzyme and all the scientists.” Carolann does physical therapy and speech sessions with him every day.
“He’s the greatest kid, has the greatest temperament, puts up with everything we do to him,” she coos warmly. “He’s just a great, happy kid who tolerates a lot of the pain very easily. We always try to instill fun in all his treatments, look at the bright side during his infusion. My attitude is, let’s have a party, make it fun, laugh, do something stupid. My husband and I are on the same page that way.”
Carolann, who used to ice-skate on a national synchronized team in the U.S. Figure Skating Association, laughingly admits some of her diversions during the tedious infusion process can become “like a Broadway show.” (Her party-throwing attitude won her the surprise award of Parent of the Year at Oakland Children’s Hospital last year.)
Until the beginning of this year, Nikko was getting an enzyme infusion once a week. The day-long procedure recently was changed to a larger dose every two weeks.
The enzyme, which used to require storage in a special extra-cold freezer, is so limited and hard to make that hospital staff wouldn’t begin the three-hour defrosting process until Nikko arrived at the hospital, to ensure it never went to waste. Now, however, Genzyme has switched to a freeze-dried version of the same formula — “another step forward in getting it manufactured more economically and making it easier to store,” Carolann says optimistically.
||Carolann and Nikko do physical and speech therapy every day. Nikko, who is very bright, loves books and is learning two new sign language signs a week.|
Every 12 weeks, Genzyme comes out and evaluates Nikko’s status via blood tests, urinalysis, CT scans, EKG, videotaping and a variety of other tests. He’ll continue receiving the enzyme for free through all phases of the clinical trial.
The next phase of the trial will enroll 16 babies ages 6 months through 36 months. Carolann is hopeful the scientists will learn more about treating older babies with Pompe’s, and is grateful that 16 more lives could be saved.
The personal cost
Like most parents of medically fragile children, the Elmores are exhausted.
They’ve had insurance battles, Medi-Cal (state health program) tussles and, sometimes, wrestling matches with the angel of death. Nikko has “coded” (stopped breathing) three times.
“We’ve spent many, many, many nights on the floor by his bed in ICU,” Carolann says. “We’ve never left his side for 24 hours. One of us is always there. It’s like my husband and I don’t know each other anymore. We miss each other greatly.
“Fortunately we’ve been together a long time and our goal is focused on the baby and putting our needs aside as much as we can. We both just feel so blessed.”
As for Nikko, he’s still happily doing what he’s not supposed to do.
When Nikko turned 2 on Oct. 7 — living twice as long as predicted — his birthday happened to be an infusion day. Carolann threw a big party in the hospital and even had a guy in a dinosaur costume come in, in honor of Nikko’s adoration of the Barney character.
“It was a big deal when he turned 2. Every day is a big deal for him,” she said.
“Science is incredible, all the research. Who knows, tomorrow could be the biggest breakthrough. You just grasp every day,” she adds.
“Everybody has somewhere between an hour and 100 years to live. Every day is the gift. I hope he is with us each day and that the scientists each day are learning something new. I hope someday my baby will be my ice-dancing partner. I never want to give up because you never know what great news tomorrow will bring.
“So let’s party now!”