Sean Stutzman is a doting, proud father with a tattoo of his baby girl on his upper right arm.
The tattoo will be with him his entire life. Tragically, his daughter will not.
Stutzman and his wife, Jamie, are parents of baby Reesa, a 16-month-old who epitomizes the picture of health. She is a mesmerizing child with crystal-blue eyes, flawless milky skin and rose-red lips.
But Reesa is dying.
In April, the Stutzmans received the heartbreaking news from a doctor that Reesa has Krabbe disease, a rare, fatal genetic disorder for which there is no known cure. What's worse, the life expectancy for those with the disease is age 2.
Krabbe disease is one of a group of 34 known genetic disorders called "leukodystrophies," which impair or affect the growth of the brain's white matter, or myelin sheath. Eventually, brain cells die and nerves in the brain and body function improperly.
"When people see Reesa, if I'm out with her, she looks healthy to them. They don't know she's dying," Jamie says. But walk into the Stutzmans' Scottsdale home, and it's evident that an unhealthy child lives there. Taking the place of colorful toddler toys, sippy cups and bits of scattered crackers are a breathing machine, a suction machine, and other medical equipment.
Reesa cannot move her body or hold up her head. She cannot swallow. Several times an hour, Jamie and Sean take turns extracting her oral secretions with a suction machine. Nearby is a feeding machine connected to Reesa's gastronomy tube (G-tube) that has been surgically inserted through her abdomen to deliver medication and a continuous drip of formula to her 20 hours a day.
It has been at least six months since Reesa has eaten by mouth, says Jamie.
Reesa can't speak, and the Stutzmans think she is losing her vision and possibly her hearing. Her little body stiffens at times, and at other times is floppy. Her tiny hands are often clenched shut. She experiences occasional seizures, which seem mild to an outsider, but her mother is aware of each one. Her reflexes are slower now, too, says Jamie. If her parents coo her name, Reesa will eventually move her eyes toward them, but it's taking her longer stretches of time to do that.
Krabbe (pronounced crab-a) has also robbed this once-giggly, vivacious baby of her ability to smile.
"Having a child with Krabbe is a lot of work and stress," says Sean. "There are good times and bad times. ... It's a really tough disease. She's on the right medications, but she's always in pain and we're always trying to manage that. ... But especially at the beginning (after her diagnosis), there was stress."
A bright beginning fades
Reesa was born July 30, 2011, weighing 7 pounds, 13 ounces. She was beautiful and healthy, say the Stutzmans, who were thrilled to welcome their first child into their lives.
Sean's mother, Flo Stutzman, couldn't wait to care for the then-newborn Reesa while Sean and Jamie went to work in commercial real estate and dental sales, respectively.
"She's my first grandchild, and I wanted to spend as much time as I could with her," Flo says.
Jamie's father, Jim Samuel, says Reesa has always been the "joy in (his) life." He remembers the happiness he felt for Sean and Jamie and for himself when Reesa was born. "I just felt tremendous love."
Mike Stutzman says his role as Reesa's grandfather is "to do nothing more than love her."
"When she was 3 or 4 months old, I would do anything to make her smile and laugh, and it was easy to do," he says. "Those big blue eyes would look me in the face. It was incredible. For 6 months of her life, it was wonderful."
Then things started to change.
Jamie noticed that Reesa was not achieving the same infant milestones as her friends' babies, such as rolling over and grasping for items. When Reesa developed a stomach virus, Jamie took her to the pediatrician and, during the visit, voiced her concern about Reesa's delay in motor development. Though the doctor didn't seem concerned, Jamie remembers, he was, however, worried about the jump in Reesa's head size. So he referred the family to a pediatric neurologist.
After ruling out some other problems, the neurologist played with and observed Reesa for 20 minutes and then told Sean and Jamie, "with tears in his eyes," Sean says, that he would test her for a possible leukodystrophy, and the results would not be back for at least one month.
The wait was excruciating for Reesa and her parents. Not only did the Stutzmans spend day after day not knowing what was wrong with their daughter, but Reesa's condition worsened rapidly. She would scream at night and was inconsolable. She didn't sleep. She began having feeding difficulty and lost weight. The Stutzmans took her to Phoenix Children's Hospital, where she was put through six days of grueling tests and fitted with a nasogastric tube (NG tube) that carries food and medicine to the stomach through the nose.
Still, the Stutzmans did not know what was causing their baby's downward spiral.
But the unknown became their worst nightmare shortly afterward. Sean remembers the April afternoon that changed the lives of everyone who loves Reesa. "I was at work when the doctor called (with the leukodystrophy test results). As I called him back, I had a horrible sinking feeling," he says. "I don't even remember the drive home. It was really brutal."
With confirmation that Reesa had the worst of all the leukodystrophies, the Stutzmans were devastated. "(Our) dream died. All of our plans for life changed," Sean says. "I remember being so angry, (knowing) I won't be able to watch her go to prom or walk down the aisle."
Reaching out for support
After processing the realities of Krabbe, Sean and Jamie were determined to make their daughter comfortable, her life meaningful and to celebrate every moment they have together, Jamie says.
One of those celebrations included Reesa's recent Jewish baby-naming ceremony. Jamie, who is Jewish, reflects on that special day and the bigger picture, which explains how this family is coping with a parent's nightmare.
"We continue to be strong and to be good parents to Reesa," she says. "We enjoy every moment with her because we don't know (how much time she has). ... We've been positive, and we keep each other strong."
The couple agrees that an outpouring of support from friends and family has helped them endure their lowest days. Even families who didn't know the Stutzmans before Reesa's diagnosis have offered emotional support.
Through persistent Krabbe research, the Stutzmans connected with people throughout the country whose children have Krabbe or have died from the disease. They learned of Jim Kelly, former NFL quarterback, whose son, Hunter James Kelly, died of Krabbe at age 8. Kelly and his wife, Jill, created the Hunter's Hope Foundation (huntershope.org) to raise awareness about Krabbe and help people afford the hefty medical bills associated with the disease. The Stutzmans estimate it will cost approximately $700,000 a year for tests, occupational and physical therapy, and medications that keep Reesa comfortable. Medical insurance covers only a portion of these costs.
"People who have been through this kept telling me, 'You have to set up a fund,' " Sean says.
He and Jamie formed the Baby Reesa Fund through the Southwest Institute for Families and Children in Scottsdale. Donations help the family pay Reesa's medical bills. When Reesa dies, the fund will become the Baby Reesa Foundation, with any remaining funds used to help other Krabbe families, Sean says.
"We've been lucky to have friends help us, but we've seen other families (dealing with Krabbe) who have nothing."
Quality of life
Since there is no cure for Krabbe disease, the Stutzmans want to provide a pleasant, pain-free life for Reesa, Jamie explains.
Soon after Reesa's diagnosis, the couple scheduled an appointment with Dr. Maria Escolar, one of the leading experts and researchers of Krabbe disease in the country.
Escolar is director of the Program for the Study of Neurodevelopment in Rare Disorders at Children's Hospital of Pittsburgh, and associate professor of pediatrics at the University of Pittsburgh School of Medicine. She has spent more than 13 years studying Krabbe.
"It's one of the most horrific diseases I've ever encountered," Escolar says.
Last May, Sean, Jamie and Flo Stutzman accompanied Reesa on her first trip to Pittsburgh to visit Escolar. Over a period of several days, Escolar and her team of experts tested and observed Reesa so they could adjust her new medications that control pain and spasticity. At the time, the drugs also somewhat restored Reesa's former, cheerful disposition, as she was no longer in pain, Jamie says. Reesa continues to visit Escolar occasionally for an examination, to keep track of her regression, and to adjust her medications.
"Taking care of a child with Krabbe is very difficult for a family," Escolar tells Jewish News. "We help families by being available to them 24 hours a day, once they have been through our extensive evaluations to help us understand where they are in the disease progression. ... We try to expedite research and get therapy to patients as fast as possible."
Escolar's patients are mostly babies and very young children, as early-onset Krabbe typically affects infants by the age of 6 months, according to the U.S. National Library of Medicine.
The disease is rare, appearing in only 1 in 100,000 births in the country, and it is most common among people of Scandinavian descent. Neither of the Stutzmans is Scandinavian.
Krabbe has no apparent ties specifically to those of Jewish descent, and is not currently one of the diseases screened for by the Jewish Genetic Diseases Center of Greater Phoenix's Ashkenazic Jewish genetic diseases screening , according to its director, Debra Kleinberg. However, the center currently offers an optional "universal panel" that includes 100 diseases, including Krabbe.
Both parents must be carriers of a certain faulty gene in order for a child to have Krabbe. And, even then, a child has a one-in-four, or 25 percent chance of getting it.
"We had no idea we were carriers," Sean says, and adds that no one in his or Jamie's families, to his knowledge, has ever had the disease.
Genetic counseling is recommended for people with a family history of Krabbe disease who are considering having children. Prenatal tests done by amniocentesis can detect the disease in an unborn child, according to the National Institutes of Health.
If caught before symptoms occur, a bone marrow transplant or stem cell transplant may significantly reduce the severity of the disease, and may even prolong a child's life, confirms the Mayo Clinic website. Once symptoms are present, it's oftentimes too late for either of these procedures to make a difference.
One test, numerous road blocks
How can parents with no known family history of Krabbe know if their child has it before it's too late?
A newborn screening test involving a heel prick to collect droplets of blood is used to test for various severe genetic diseases, such as Krabbe. Each state mandates its own list of genetic diseases that it tests for through a newborn screening test. Out of 50 states, Arizona is third to last with regard to the number of diseases on its newborn screening test. The state tests for 28 diseases, including a hearing test. Krabbe is not on that list.
Reesa was born in Arizona. Had she been born in a state such as New York, where 50-some diseases, including Krabbe, are part of a newborn screening test, the Stutzmans would have known very early on that Reesa had the disease. All of this frustrates her family, they say.
"As a grandparent being confronted with this, I can't crawl away and hide," says Mike Stutzman. "Krabbe was new to us, we had never heard of it. Now we (the family) think it's unofficially our job to get the state to include Krabbe in its (newborn) screening."
Adding a disease to a newborn screening test is a multi-step process, including federal and expert medical recommendations and finances, says Ward Jacox, office chief of the Office of Newborn Screening of the Arizona Department of Health Services. One part of the process is that the Newborn Screening Advisory Committee provides recommendations to the Department of Health Services about tests that should be included in the newborn screening. A disease has to meet three general criteria to be considered as an addition to the list. Krabbe does not meet at least one, he says.
Mike Stutzman has worked tirelessly to push for adding Krabbe to the Arizona newborn screening test. He's contacted state politicians. He, Jamie and Sean together visited Gov. Jan Brewer's office (though they did not meet her). Mike Stutzman has spoken to Beth Mulcahy, state director of program services and public affairs at the March of Dimes, to see what can be done to add the test for Krabbe. The March of Dimes is included on a panel of experts that suggests what diseases should be among those on the newborn screening test. Mike believes that discovering the disease before the onset of symptoms can provide a different outcome for a family from the one his own family faces.
"It's heartbreaking," Mulcahy says of Baby Reesa. "This is a very important issue, and unless you have a child who is sick, you have no idea what these families go through. These (newborn screening) tests are so important. They save lives. They save hundreds of millions of dollars each year on health care costs across the country."
All of this especially stings Reesa's family because Mike Stutzman and Flo Stutzman are originally from New York, which screens for Krabbe.
"God planned for Reesa to be born in Arizona. So there is a purpose and a reason for this," Mike says. "We're working on awareness to try to help as many other people as possible."
Legacy of love and purpose
The Stutzmans say they view Reesa's illness as something that will have a positive outcome for families down the road. They will fight for others, though they cannot fight for themselves. And they will celebrate their baby while she is here, and when she is not.
"There still is light for us," Flo Stutzman says. "We know that Reesa is not only special to us, but she will be a miracle to so many people who have never heard of Krabbe, and would never think of having their child tested."