NO HARDER CHOICE Kathleen Kernicky, Staff Writer
Copyright 2003 South Florida Sun-Sentinel January 26, 2003 reprinted by permission
CHILDREN BORN WITH SPINAL MUSCULAR ATROPHY FACE A SHORT AND DIFFICULT LIFE. HOW THAT LIFE IS SPENT IS THE PARENTS' DIFFICULT DECISION. It is among the deadliest genetic disorders to strike children younger than 2. Yet most parents have never heard of spinal muscular atrophy.
Shaina and Adi Rappoport already had a healthy daughter, Jordan, when their second child, Jacob, was diagnosed with SMA last May. Debbie and Rob Freeman thought their beautiful baby boy, Payton, was "perfectly healthy" when he was born. They were told he had SMA in November 2000. Both Payton and Jacob were 4-months-old when diagnosed with type I, the most severe form.
The neuromuscular disease, which attacks the body's voluntary muscles, is caused by a missing or defective copy of a gene that controls nerve bodies in the spine. SMA is inherited by 1 in 4 infants when both parents carry the defective gene. Within a few weeks or months of birth, SMA infants are unable to master physical skills. Their chest muscles weaken, making breathing difficult or impossible without a ventilator.
Without respiratory intervention, 95 percent of type I SMA babies die before they are 2. That leaves parents such as the Rappoports and the Freemans with a terrible choice. Use a machine to keep their child alive longer, while living with a devastating illness. Or keep their child comfortable without respiratory aid, knowing he will die sooner.
Both families were forced to choose the course of their child's life. Here are their stories:
After waiting two months for the blood-test results, Debbie and Rob Freeman finally got the call from the neurologist while they were in the car.
"I'm sorry, but it's positive for SMA," he said over the cell phone. And that was it.
At the time, Payton Freeman was 4 months old. The doctors gave him no chance. His muscles would grow weaker, they said. He would lose the ability to swallow or turn his head or even smile. He would never sit up, crawl, walk or talk. When the end came, and it would likely come soon, he would just stop breathing or suffocate on his own secretions.
"Look at him," said another neurologist whom Debbie and Rob consulted for a second opinion. "He's so weak. I give him three months."
Look at him. Like, "he is so pathetic." That's the way Rob and Debbie heard it. They were angry. They weren't talking about their 90-year-old grandfather here. This was their baby.
Debbie and Rob had grown up together in Margate. Debbie was friends with Rob's sister. She'd known Rob since the fourth grade. They hadn't planned on a child just yet, but they'd welcomed Debbie's surprise pregnancy. Their dreams, like a million other parents' dreams. Crushed.
Maybe it was their own stubbornness. Debbie and Rob will tell you they are tough, mentally tough, not people to trifle with. Maybe it was the manner of the doctors, so matter-of-fact. Some would say stone-cold. The way the one dismissed their son so quickly, in between bites of his lunch. Whatever it was, it made Debbie and Rob stronger. Even if it meant postponing Debbie's career. With help from her family, Debbie, 32, still works as an assistant manager at Outback Steakhouse. Rob, 35, runs a T-shirt business. Even if it meant the pain of watching other children run and jump and play, while Payton is on the sidelines.
"Sometimes, I want to take my kid to school," Debbie says. "I want to take him to McDonald's. I want to take him to Disney World. And not in a wheelchair. And I have to put it out of my head. Because those were not the cards we were dealt.
"It's not something that we felt we had a choice in. But if there is something we know we can do for him, then we have to do it. It would have been more selfish of me to just say, `I can't do this. I won't do it.' And just let him go."
Within weeks of the diagnosis, the disease began to reveal itself. At 4 months, Payton was starting to aspirate. Debbie had to stop breast-feeding. At 5 months, he couldn't swallow. Doctors surgically inserted a feeding tube. At the hospital, an intensive-care doctor hunted Debbie down with a "do not resuscitate" form. Should Payton stop breathing, doctors would not revive him. He asked her to sign. She refused. He tried to talk her into it. She dug in her heels. Finally, she made Rob sit down with the doctor and set him straight. "We're not signing this form. Not now, not ever."
Payton was so weak they knew it wouldn't take much. But that's not what they wanted. They wanted to take him home. No matter what happened, they weren't going to let him die at that hospital.
"The baby is brand new and you picture this life of growing up and playing baseball and the whole thing," Rob says. "And this guy is telling me, `just let him go. It will all be over with really quick. Just let him go. We'll put you in another room and make him comfortable. And when he's gone, he's gone.'"
Debbie and Rob turned elsewhere for help. On the Internet, they found other parents with SMA children. Some parents take an equally harsh and opposite view of the doctors. Wait a minute, they told Debbie and Rob. Don't listen to the doctors.
"They basically told us, `Just because your child is sick doesn't mean you take him home and let him suffocate,'" Debbie says.
Debbie and Ron were skeptical at first, but they listened to what other parents had to say. They figured some of them were a little wacky. Because once you start living with SMA every day, "you get a little wacky.
"You can't help it," Debbie says. "You're dealing with emotional trauma and grief every day. You've got nurses in your house every day. You're dealing with your child who stops breathing and you've got to do CPR to revive him. In the end, what happens is you get kind of neurotic with all these people telling you different things."
By 7 months, Payton was struggling to breathe at night.
Debbie and Rob had already purchased a Bi-Pap, which is worn as a nasal mask with a cap that fits over the head and feeds oxygen through a small hose.
"It wasn't even like, `Should we use the Bi-Pap? Should we prolong this?' It was never like that," Debbie says. " It was, `He needs air.'"
Payton started wearing the Bi-Pap at night to help him fall asleep. Gradually, he began wearing it all night. With the Bi-Pap and a rotation of nurses, Payton and his parents could sleep through the night. But the disease continued its course. At 11 months, Payton lost the ability to smile. That seemed especially cruel to Debbie. Already, her baby couldn't swallow or move from the neck down. And now, he couldn't smile?
"SMA is vicious," she wrote to other parents on a Web site.
For Payton's first birthday, Rob and Debbie took him to Universal Studios in Orlando. A milestone the doctors thought he'd never reach. Now 2 1/2, Payton continues to outlive the expectations. His eyes are bright blue, like Debbie's. He expresses himself through his eyes and his facial movements. He works with a physical, speech and occupational therapist as well as a teacher who comes to their Margate townhouse. He likes to watch children's videos with the volume turned up loud. Lilo & Stitch. Shrek. And his favorite, Toy Story. Last month, his family took him to Disney World. He likes playing with his dad, deliberately setting off the beepers on his monitors so he can watch everyone come running.
"If he's watched a video 50 times, the 51st time, he may not want to watch anymore," Rob says. "So he lets you know. He'll look at you, he'll pick the one with his eyes. If you put the wrong one in, he'll cry.
"I treat him like most dads would treat their sons. I know that he's handicapped, but I still treat him a like a little boy. He wants to play."
"Payton is somebody now," Debbie says. "He has a personality. He has a purpose." (Through a non-profit organization, he helps raise money for SMA research.)
Debbie and Rob believe Payton is happy, that he doesn't know any different. He can't tell them so.
"Grandma will be here in a little while. Grandpa stops by every day. Everybody loves Payton. There's never pain or suffering," she says.
Debbie and Rob get excited by the small things. Payton waves bye. He moves his legs back and forth. He moves his wrist a little to hold his Beanie Babies. They don't know what happens next, or for how long. They appreciate every day with Payton. They see other people yelling at their kids, caught up in the stress, the day-to-day routine. Unfettered by the "emotional life and death realities" that they live with every day. And they say they are better off because of it. Better off because of Payton.
"We were people who lived in the dark like most everybody else," Debbie says. "Now we're better people, better parents, better children. We're better everything."
Payton Freeman passed away on January 15, 2006 at 5 1/2 years old.
Looking back, Shaina and Adi Rappoport see the telltale signs.
Jacob never kicked out of his swaddles. He didn't lift his legs. He felt slouchy and floppy. At the time, though, they saw no sign of the choice that lay ahead. Only a perfect baby boy, Jacob Isaac, who shared his grandfather's birthday, Dec. 27.
Adi, 30, a tax attorney, and Shaina, 29, a graphic design professor, were high school sweethearts. When they married 6 1/2 years ago, they wanted three or four kids. They bought a home in a suburban Lake Worth subdivision filled with playgrounds and kids. Their daughter, Jordan, is 3.
Jacob, their second child, was born in 2001. When he was 2 months old, they began to notice things. He didn't move the way his sister had. Or hold up his head. When he was 3 1/2 months, Shaina took him to the pediatrician. He sent them to a specialist.
"The doctor said `Sit down,'" Adi recalls, "and you knew it was going to be bad."
Shaina's mind was racing ahead. Would Jordan be OK? Could she and Adi have more children? Questions followed by grief and shock. And finally, resolution that they would cherish each day they had with him. Jacob was laid-back, go with the flow, like his father. Anyone could hold him. He'd fall asleep on anyone's shoulder. He was easygoing, never fussy or colicky.
Jacob didn't look sick. Adi would look at his son and think there must be a mistake. His baby pictures, framed in the living room, show a happy, smiling Jacob at 3 months. Jacob loved to look at Jordan and balloons. His parents sang and read to him. He liked being outside in a stroller. He was fascinated by his sister. And Jordan delighted in her new brother, clowning around to make him laugh.
Shaina and Adi didn't tell her that Jacob was sick. They didn't want her to think when she got sick, she might die. Jacob had weak muscles and she has strong muscles, they said. They had conversations about heaven. They tried to keep life normal for Jordan. They sent her to preschool even though she could bring home a cold to Jacob. They taught her to take precautions and wash her hands. Still, Shaina and Adi rarely left the house together. One was always at home, in case Jacob stopped breathing.
If Jacob was to survive his first year, he would need help breathing. Doctors could make a surgical incision in Jacob's trachea to allow breathing through a portable ventilator. Or Jacob could use a Bi-Pap (Biphasic Positive Airway Pressure), which feeds oxygen through a small hose and is worn as a nasal mask with a cap that fits over the head. The Bi-Pap is favored by many parents because it is less invasive than a tracheotomy. Some children use it only for sleeping or when they are sick.
Adi and Shaina had another choice. Do nothing, except keep Jacob comfortable.
"Basically, what doctors can do is lay your options in front of you," Adi says. "None of them could say, `If I were in your shoes, I would do X.' Most of them are honest about that."
Shaina and Adi weren't counting on the doctors. They were Jacob's parents. The two people who loved him most. Now they were forced to confront the cruelest of choices. Neither choice would make him well. Neither choice would give him a life with the most rudimentary activities. It was a choice of "horrible vs. terrible," Shaina says. And it was theirs alone.
In June, Shaina and Adi took Jacob to Chicago to a conference of FSMA, Families of Spinal Muscular Atrophy.
"We talked to people who had made different decisions," Shaina says. "We met families with children who were still alive and those who had children who had passed away. We learned as much as we could."
They heard from parents whose children had outlived the grim statistics. "Our son turned 4 today," they would read on Internet message boards, when turning 4 meant more than just another birthday.
"I remember right after Jacob got his diagnosis," Shaina says. "I took him to physical therapy and I came out and there was a man in a wheelchair. He was talking to another man and he was laughing. And I thought to myself, a month ago I would have pitied this person. And now I think how lucky he is. That he is able to interact, have relationships with people and he has a full life."
At first, that gave them hope. Maybe Jacob could have some sort of a life. OK, he's going to be in a wheelchair. He's never going to play Little League. Maybe not the kind of life they'd imagined, but at least they might be able to give him a full life. Over time though, that fragile promise began to fade. Jacob had good days and bad days. Good hours and bad hours. The balance began to shift. When he couldn't swallow anymore, doctors surgically inserted a feeding tube. He couldn't lift his head or turn over. He never made babble sounds. Because their chest muscles are weak, SMA babies are vulnerable to colds and respiratory infections. They can choke on their own secretions. They need frequent suctioning to remove the mucus in their lungs.
Twice, Jacob got pneumonia and recovered. Just before Labor Day, he stopped breathing and Shaina had to revive him. After that, she and Adi threw blankets on the floor and slept beside him. Shaina was up every hour to reposition him or suction out the secretions. Sometimes, when he struggled to breathe, they turned on the oxygen as a comfort measure. Sometimes they didn't know if this was a bad stretch, or the end. They tried to put themselves in Jacob's shoes. Would they want to live like that?
What would Jacob choose?
"What was particularly hard for me was that I knew that if we did decide to use the Bi-Pap, for a short period of time, it would make Jacob feel better," Adi says. "It would have improved his quality of life somewhat. But then the question is, at what cost? We had to ask ourselves, then what? Is it just going to keep him hanging on?
"Jacob would be a brain trapped in a body with a machine helping him breathe. Respiratory intervention is not a cure or a treatment. It's a machine to help him breathe. Your child still very much has SMA. It's difficult because you don't know what your child would choose. But you know that this is your child and you think that your child is part of you. And that he would make the decision you would make because he is your child."
Jacob died in October. At home, with his family. He was 9 months old. His parents and sister miss him terribly. Adi misses their bedtime routine. The highlight of Adi's day. He'd come home from work and sing to Jacob, pat his tushy and comfort him until he fell asleep.
"One of the hardest things was, we couldn't hold him at the end. He'd have to be lying down flat. It was easiest for him to breathe when he was lying flat."
In those last weeks, when he couldn't hold Jacob anymore, Adi knelt beside him and read him stories. He did puppet shows.
"He was my hero," his father says, fighting back tears. "He was very courageous. You see these kids, how courageous they are. I think all the time about what he would be like. I think he was very smart. His eyes, the way he would draw you in with his eyes and express himself. He was good company. He was a good person to spend time with."
Staff Writer Nicole Sterghos Brochu contributed to this report.