Young couple grapples with daughter's rare genetic disorder

There was something different about Marisa.

"The moment she was born, she was blowing bubbles," recalled her father, Joel Easterly, 32. "Some of the nurses were saying, 'Wow!' They'd never seen that before."

Bubbles seemed innocuous enough. The pregnancy had gone well, the delivery was quick and Marisa was a healthy 6 pounds 4 ounces.

But it was the first hint of an extremely rare medical ailment that has been reported in about 30 people worldwide. The problem, caused by a genetic deficiency, has exhausted the young family physically, emotionally and financially.

At two months, Marisa was hospitalized for a week. "She was having trouble eating," said her mother, Nikki, 23. "She kept spitting up." Doctors prescribed a change of formulas and Prevacid, a remedy for gastroesophageal reflux. And they advised the couple to slow down her feedings.

The couple, who grew up in Maryland, also noticed that Marisa's eyes would often roll upward and stay that way. Soon the baby began to lose her ability to swallow. She was getting sick, and began to experience seizurelike episodes where her eyes would glaze over.

More trips to doctors and emergency rooms, and twice-weekly hospital stays eventually led the Easterlys, in October 2009, to the University of Maryland Medical Center in Baltimore. Joel stayed by her side through two months of hospitalization there, and another month at the Mount Washington Pediatric Hospital. Eventually, doctors came around to their diagnosis: AADC.

AADC stands for "Aromatic L-Amino Acid Decarboxylase Deficiency." That means its victims can't make an enzyme needed to manufacture several neurotransmitters — chemicals critical to the conduction of impulses throughout the nervous system. Tests revealed Marisa's body makes no dopamine and very little serotonin.

Such deficiencies affect both voluntary movements and involuntary functions such as heartbeat, digestion, temperature regulation and more.

AADC is one of perhaps 10 similar genetic diseases that affect the production of neurotransmitters.

"Most are extremely rare," said Dr. Phillip I. Pearl, a pediatric neurologist at Children's National Medical Center in Washington who specializes in these illnesses.

"I'm sure there are that many [additional AADC cases] that have been diagnosed,but haven't been published," he said. "My guess is there are something like 50 to 100 cases worldwide."

Pearl has seen only about 10 AADC patients since he became involved with the disease in 1993. Most he met at meetings sponsored by support groups. He has had just two patients of his own, including Marisa and a boy, now 5. Pearl got his third with a new diagnosis on April 6.

In newborns, AADC is often misdiagnosed, Pearl said. "I have a case right now that, until he was 5 years of age, was coded cerebral palsy." His parents eventually saw a TV show about pediatric neurotransmitter diseases and asked for more tests, which revealed the child actually has AADC.

Neither Joel nor Nikki Easterly had ever heard of AADC before. Neither have most doctors. Marisa's doctors were baffled for months by her problems.

Routine lab work will not pick it up or provide a diagnosis. That requires a spinal tap and special handling of the spinal fluid as it is transported to one of the few labs in the world equipped to do the work, including just two in the U.S.

AADC is caused by a genetic defect inherited from both parents. When two such "carriers" find each other, there is a 25 percent chance that a child they bear will inherit copies from both parents, and with them the disease.

It is a tragic roll of the genetic dice. The defect causes a cascade of physical symptoms, with a complexity and severity that vary from one patient to the next.

"On the other hand, these children can have near-normal cognition" and intellectual development, Pearl said. "They may really understand what's going on around them. That's in a way part of the tragedy."

Now 2 years old, Marisa weighs no more than she did when she was diagnosed at 6 months. A sweet smile drifts across her face when her mother rocks her, and she can turn her head. But otherwise she moves very little. Her limbs are limp and atrophied. Her eyelids droop. She cannot hold her stuffed toys.

Nikki Easterly has a paper listing 22 symptoms that can appear in AADC children. Marisa has 20 of them.

"New stuff just kept happening," Nikki recalled. "The main thing was her not being able to eat." Marisa also has difficulty regulating her temperature; she is congested, has digestive problems, sleep disturbances, muscle spasms … Nikki's list goes on.

More hospitalizations followed as Marisa suffered one crisis after another.

Caring for Marisa is a full-time job for both her parents, who sleep in shifts. They feed Marisa through a gastric tube every hour during the day and every two hours at night. They inject liquid nourishment through an opening in her belly. Her medicines go in the same way — eight of them in all, given at 8 a.m., 2 p.m., 8 p.m. and 2 a.m.

Sometimes Marisa needs oxygen. And Joel has learned to slip a fine plastic tube into Marisa's trachea to enable a machine to suction her lungs. He tells her softly, "I love you. I love you. Now you can breathe!"

The tiny girl smiles. "She always smiles," Joel said. "She even smiled in the hospital; I think it was the third day."

Those are sweet moments, but the weight of the Easterlys' responsibilities is taking a toll.

"We're exhausted," Joel said. "I mean, literally."

In addition to Marisa, the Easterlys have a healthy 3-year-old daughter, Mila, to care for. And another child is on the way. "There are some days I'll go to Baltimore for something and I'll just sit in the car and cry," Joel said. "I feel bad for Nikki, for Mila."

Pearl has seen the family's stress before. AADC "either brings parents closer together, or to divorce," he said.

AADC children's prognosis, Pearl said, is "very variable." Some die in infancy or early childhood, but patients with relatively mild AADC may survive into early adulthood, some into their 20s and 30s. He is unaware of any who have lived beyond that.

Joel and Nikki both grew up in Maryland. He left Towson High School in 1997 and later got his GED. Nikki went to Loch Raven High but never graduated. She has been out of work since Mila was born in 2008.

Joel attended Baltimore County Community College's Essex campus. He also served for a time in the National Guard and says he has some managerial experience at chain restaurants. But otherwise it's been a hit-or-miss series of construction work and other odd jobs.

They met in 2006 and married in 2010. For a time after Marisa's birth, they lived with Nikki's parents in Bel Air. But six months ago they moved out, looking for "quiet" after all of Marisa's hospitalizations. Maryland seemed unaffordable, so they found an $800-a-month townhouse in York, Pa.

"Big mistake," Joel said. In addition to the long drives to Marisa's doctors at UM Medical Center, they were unable to find a home nursing care provider under Pennsylvania's Medicaid system so that Joel could work.

Michael Race, a spokesman for the Pennsylvania Department of Public Welfare, said he would have the department's local office reach out to the Easterlys to see what more might be done for them.

Nor has Medicaid covered all the costs of Marisa's other medical equipment and expenses, which Joel said total about $11,000 a month. The family's share comes to about $6,000 a month, he said.

"We're broke. We tapped out all our resources," he said. Unable to work as long as they have to provide all of Marisa's home care themselves, they are living on food stamps. The family's hopes hinge on moving back to Maryland, restarting the home nursing services for Marisa and both parents finding jobs.

There are no medical miracles for the family, either. Treatment consists of a variety of drugs designed to replace the missing neurotransmitters, or prevent the breakdown of whatever small amounts the patients are able to produce. Success is "mixed," Pearl said.

Her parents say Marisa seems to have some improved movement with doses of a vitamin B6 and phosphate mixture. "It's working a little bit," Joel said.

Treatments can partially relieve patients' symptoms, Pearl said. But he added, "They are not cured, and it is unlikely they will ever have close to a normal life."

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