A son's disease puts a family back in the fight

It was only after her 3-year-old daughter was gone that Stacy Saville noticed how loudly the clock ticked in the family room.

Tick. Tick. Tick.

Suddenly, that was all she could hear.

Before Dec. 4, 2005, there were Morgan's noises.

The rumble of the machine that forced air in and out of her lungs, to keep her diaphragm muscles working. The beeping of the monitor when her heart rate dipped too low. The whoosh of the suction machine that cleared her lungs.

The sound of her laugh.

Morgan died that December day of spinal muscular atrophy, a neuromuscular disorder that had defined the Savilles' lives since she was diagnosed at 8 months old.

They had lobbied tirelessly for more research funding and had enrolled Morgan in an experimental treatment they hoped could stave off her decline.

Days away from starting the treatment, Morgan died.

Stacy felt the silence closing in. Her husband, Bill, felt the same.

In their grief, the Virginia Beach family wanted to move on. They still supported the cause and participated in fundraisers, but the battle weighed heavily on them.

The Savilles' youngest son, Clayton, who was then 4, turned to his mother one day shortly after Morgan died and said, "Mommy, I'm tired of fighting SMA."

Stacy was too.

One aspect of SMA, though, would keep them from leaving it completely behind.

The condition is inherited.

Even though SMA kills more babies and toddlers than any other genetic disorder, many people have never heard of it.

One in 6,000 children are born with it. It strikes down so many in childhood that the population of people living with it is small.

Motor neurons, the cells in the central nervous system that send signals to the muscles, shrink and die off. As the body grows, muscles in the legs, arms and diaphragm weaken, which affects crawling, walking, swallowing and breathing.

The most severe form, Type 1, is diagnosed earliest, usually by the time children are 6 months old.

Type 2 is usually found by the age of 2. Some of those children learn to walk with braces. Some live into adulthood, but others die sooner when weak chest and respiratory muscles can't fight infections.

Type 3 is an even milder form that may not show signs until later in childhood, or adulthood. Some people with the disease have so few symptoms they can live a normal life.

Morgan was diagnosed with Type 2, and the Savilles believed that gave them time to fight for a cure.

One of the most hopeful things Stacy learned is that researchers had isolated the problem to a single gene, which produces a protein to make motor neurons work properly. Other genes make the same protein, but in much smaller amounts. The severity of the disease is linked to how much those other genes pick up the slack.

The National Institutes of Health had singled out SMA, among more than 600 neurological disorders, as a disease that's very close to treatment.

Researchers at the University of Utah were studying whether certain medications could increase production of the protein the children are missing, stemming muscle deterioration.

Stacy attended conferences about the research, met with nationally known doctors, coordinated fundraisers for research, and was getting ready to take Morgan to a hospital in Detroit to participate in one of the clinical trials.

Then one morning three days before she was to leave, Morgan was playing with her Polly Pocket dolls as she stood in a device that held her upright to keep her leg muscles from degenerating.

Bill glanced at her and noticed her head had dropped, and her face was blue. Morgan's heart rate would often dip unexpectedly, a fairly common symptom of SMA. She slept with a heart monitor at night but didn't use it during the day.

That day in December, her heart had slowed so much, she lost consciousness.

Bill started CPR while Stacy called an ambulance.

At Children's Hospital of The King's Daughters, doctors said she had suffered brain damage.

The next day, before Stacy and Bill could decide whether to remove her from life support, Morgan died.

Stacy vowed to keep fighting SMA:

"I will go at it even harder," she said a few days later. "I want to do that for other children like Morgan, and for children who aren't even born yet."

But as the days passed, the ticking of the clock grew louder, and the empty spot at the table loomed large.

Stacy organized a fundraiser and then took a break.

"You think you're doing it for all the children, but I realized... I was doing it for Morgan," Stacy said. "It was all for her."

She and her husband decided to focus on their family. They wanted another child.

"Three just felt right," Stacy said.

The number 25, though, also played into the equation.

The defective gene that causes SMA is passed down from the mother and the father, which meant the Savilles had a 25 percent chance of having another child with SMA.

In the months after Morgan's death, her parents struggled over that.

In their eyes, Morgan was perfect, and completed their family. She made Stacy and Bill a team in a way they had never experienced. She gave her older brothers, Zeke, now 16, and Clayton, 7, a sense of empathy and appreciation of simple things - like walking and even breathing.

And she was Morgan, a clear-eyed, happy little girl who greeted them in the morning with, "It's a beautiful day."

She loved telling knock-knock jokes and painting her fingernails. She'd tease her mother by pretending to eat glue during playtime and laugh when her mother wiped the glue off her hands.

Stacy had accepted the fact that Morgan might never walk, but she did not plan on her dying. She was already designing a wedding dress in her mind that Morgan could wear in a wheelchair.

"I remember thinking that when she had her children, I would stay with her, and change her babies' diapers, burp them and give Morgan her babies to hold," Stacy wrote in an online journal. "I would go to her house and hammer the nails where she wanted to hang pictures, do her laundry, wash her dishes, whatever I could do for her. I had plans. I just knew that everything would be OK."

Her death brought a darkness, a quiet, the family wanted to escape. Bill and Stacy wanted another child, not to replace Morgan, but to bring light and laughter into the house again.

They worried, though, about putting another baby through what Morgan had endured. A wheelchair at 2. The 911 calls. Gastric tubes that had to be snaked down her nose and throat when she was too sick to eat.

Plus, the emotional toll on Morgan of watching her body fail, even as her mind soared.

They also did not want to suffer the death of another child.

So they decided to try in vitro fertilization, in which their embryos were screened to see which ones had the SMA gene. Those without it were implanted in Stacy's womb in October 2006.

Stacy miscarried at six weeks.

They went through a second IVF round in February 2007.

Again Stacy miscarried, at the same stage.

The treatments were wearing on them emotionally, physically and financially. They decided not to try IVF a third time.

"After that, we thought if we were meant to have a baby, we would. We just let life take over."

The next year, Stacy found out she was pregnant.

"We figured the chances were greater than not we would have an SMA-free child," Stacy said.

When she was 10 weeks pregnant, she had a prenatal test that would give the family some genetic clues. Every time the phone rang, Stacy's heart jumped.

The first round of results brought this bit of information: The baby was a boy.

Because Morgan had been a girl, Stacy somehow worked the idea around in her head that a boy was a good sign.

Five long weeks followed before the results of the SMA gene test arrived.

On May 16, the phone rang.

It was the geneticist.

"I'm sorry," she began, and Stacy knew what would follow.

The test showed a high likelihood that the baby had the SMA gene. He would need to be tested after birth for confirmation. The geneticist asked whether Stacy and her husband wanted to continue with the pregnancy or terminate it.

Stacy knew the baby was a boy.

She had seen him squirm on the ultrasound screen.

She answered the geneticist's question with another question.

"Do you know if there are any research trials going on?" Stacy asked.

After she hung up the phone, she didn't cry. But she felt like all the oxygen and hope and optimism she'd been trying to hold inside came out with every breath.

Within 30 minutes, though, she got on the computer to look up the latest in SMA treatment.

She told Bill when he got home from work as an engineering consultant, and she told her sons the next day.

"I had to get straight in my head before I was ready to tell them. And they were OK. They were fine. When you hear something like that, you have to move forward, you can't just stop."

Which is how Stacy, once again, landed on the front line of the battle against SMA.

She was five months pregnant when she called Dr. Kathy Swoboda at the University of Utah.

The pediatric neurologist has spent the past decade studying SMA and researching ways to slow the progression of the disease.

Swoboda oversaw the study that Morgan was getting ready to participate in when she died. The children who did participate had varied results from the combination of medications. Those 3 and older, like Morgan, had an increase in muscle fat, which worked against their motor function.

But younger children showed improvement, leading Swoboda to believe early treatment, before symptoms surface, is critical.

"Once they have lost motor neurons, getting them to come back is difficult," Swoboda said in a phone interview.

In 2007, she began another study, this one called STOP SMA, using a drug called sodium phenylbutyrate in babies who had the gene for SMA but had not yet begun to show symptoms.

The same drug has been used in clinical trials to slow the progress of amyotrophic lateral sclerosis, more commonly known as Lou Gehrig's disease.

Swoboda compared babies in the trial to the case history of their older siblings who had the disorder.

So far all but one of the babies who received the drug are doing better than their older siblings at the same age. Some are even walking, a milestone their older siblings never achieved. Twelve children are enrolled in the study, and Swoboda plans to enroll 12 more.

The children with Type 2 SMA will be part of the clinical trial for two years, but they can continue to take the medication after the study is over, in an "off label" use.

"It's not a cure," Swoboda said, "but we're trying to keep them functional in whatever way we can."

She also hopes the study will lead to newborn screening for the SMA gene, so treatment can begin before symptoms arise.

The way Stacy looked at it was if she could keep this baby from losing too much ground early on, maybe he would make it to the day when a cure was found.

It was with that hope that Jackson Saville was born Oct. 14.

He looked normal in every way - Morgan had, too - though the doctor did make this observation:

"He has dimples."

Testing in November showed he had Type 2 SMA, the same as his sister.

Days later, Stacy and Jackson sat in an airport waiting for a plane to Utah.

Jackson cried so loudly, people moved away. Morgan's cry had been weak, symptomatic of the disorder, so Jackson's lusty wail heartened Stacy.

"I was so happy he disturbed somebody."

Jackson fit the criteria for the clinical trial and was immediately started on sodium phenylbutyrate.

At a six-month well-child visit in late April, Jackson waved his chubby arms, chortled and squirmed on the exam table. He's a busy guy, wanting down when his mother holds him, and wriggling away when he's left to his own devices.

He looks like his father, with a mischievous smile that dimples his face.

"So dude, you're growing," said pediatrician James Mink, checking Jackson's growth charts.

It was an important visit, in Stacy's eyes, because this was the checkup point when she began to sense something wrong with Morgan. She had told Mink that Morgan had not started sitting up, which seemed odd to her.

"Is she floppy?" he had asked.

Stacy thought the word perfectly described her daughter.

Morgan's lack of muscle tone led Mink to suspect SMA, so he referred her to a neurologist.

Soon Stacy and Bill sat in another doctor's office hearing the most devastating news of their lives. Stacy shook so badly, Bill had to lift Morgan from her arms.

But Jackson, so far, has been different.

He's sitting up. He rolling over on his own, both ways. When he's on his stomach, he can lift his head up and look around.

"I do watch and I worry about everything. When he didn't lift his head, I thought, 'Oh gosh, is this the beginning of it?' "

But normal milestones keep arriving. "I'm so grateful for everything he does - even when he screams, it's great." When she tries to put him in his car seat, he pulls back his arms and refuses to settle in.

Stacy revels in his obstinacy.

Every six hours, Stacy or Bill feeds Jackson the sodium phenylbutyrate. Jackson is starting to rebel against its bitter taste. She mixes it with corn syrup and formula and yogurt to make it more appealing.

Every two to three months, Stacy and Jackson travel to Utah so he can be tested. A visit there the last week of May showed no drop in his motor neuron levels, which was a positive sign. A bone density scan and physical therapy evaluation came back normal, also good news.

The medication was increased because Jackson is growing and building muscle and bone. She believes the medication is making the difference, but she also knows that Jackson could be one of those lucky people who have the SMA gene but show no signs of it.

In her online journal, Stacy credits Morgan with helping her brother.

"I know that she is the reason that Jackson is doing so well, because without her, he would not have been able to be part of the STOP SMA study - so, thank you, Morgan! We love you!"

Stacy, who is now 39 and a stay-at-home mom, also has thrown herself back into the fight against SMA. In April, she and Jackson visited legislators in Washington to lobby for support of the SMA Treatment Acceleration Act, which would speed research with more federal dollars and resources.

Stacy doesn't hear the ticking of the clock in the family room so much any more, because she's too busy tracking the latest research. And lobbying legislators to consider more funding. And watching Jackson reach milestones.

"I'd like for him to live a happy, normal life. A life where he can walk and move around, where life would be easy for him," she said. "I think it's possible."

There were times, with Morgan, when Stacy felt like she was putting her through "sitting-up boot camp," when the drive for a cure propelled the days rather than the scenes of childhood.

With Jackson, she's trying to find a balance between fighting for the future and appreciating the present. Between accepting the reality of the disease and hanging onto hope that Jackson's life will be different from Morgan's.

"I'm trying to make every moment count for more."

Elizabeth Simpson, (757) 446-2635, elizabeth.simpson@pilotonline.com