Each year, the Aldrian family makes a long journey. They fly from their home an hour north of San Diego to Children's Hospital of Pittsburgh of UPMC.
The person they travel so far to see is Maria Escolar.
Dr. Escolar is director for the hospital's Study of Neurodevelopment in Rare Disorders program. For about four years, she has been the primary doctor for Trevor Aldrian, an almost-5-year-old who has one of those disorders, a diagnosis that is terminal.
Steve, an airline pilot, and Nicole, a sales representative, said Dr. Escolar gave hope to two parents faced with a hopeless situation.
"She has been the turning point for us," Mr. Aldrian said, as he sat near his son and his wife in a small room at Children's. "When we met her, we were like, 'OK, we can do it.' It hasn't been easy. Every day, it's extremely difficult."
In November, it will be five years since Nicole Aldrian gave birth to fraternal twin boys, Tyler and Trevor. For a few weeks after they were born, everything was fine. But then, when Trevor was about 4 months old, he stopped gaining weight while Tyler kept progressing normally. Doctors at first thought Trevor had infant acid reflux, but soon they delivered the devastating diagnosis.
Trevor had Krabbe disease (pronounced KRAH-buh), an inherited disorder that causes an enzyme deficiency and can result in symptoms including eating difficulties, stiffness and inability to move muscles. Like many children with Krabbe disease, Trevor also went through about five months of irritability where he would scream for up to 15 hours a day.
Doctors initially told the Aldrians that Trevor wouldn't live past 2, so they should take him home and treat him with sedation and hospice care.
"We weren't happy with them telling us to sedate our child," Mrs. Aldrian said. They wanted Trevor to be comfortable, but they also wanted him to be a part of their lives, to be able to do activities such as join them at a restaurant for dinner, as the family did in Pittsburgh this week.
The Aldrians eventually connected with Dr. Escolar, whose practice at that point was located at the University of North Carolina. The Aldrians, along with 8-month-old Trevor, traveled to see her.
"It was obvious that she knew how to care for him," Mr. Aldrian said.
Since that meeting, Dr. Escolar has been Trevor's primary doctor. She sees him once a year for in-person visits, then communicates with the family by phone or video conferencing.
One of the most important things she has done is to help them with the psychological aspect of a terminal diagnosis, Mr. Aldrian said. But she also has taught them how to feed their son, how to carry him and how to deal with the routine childhood illnesses, such as an earache, that they may encounter.
Dr. Escolar said that when working with children with Krabbe, she tries to prevent complications, to make sure their hips are not hurting, that their spines are straight and that they do not have seizures. She also must adjust their medication so that they are not rendered completely asleep, but also not awake and in pain.
In all, she sees about 110 families who have children with Krabbe disease. Her interest in the disease started about 13 years ago, when she met a family whose daughter had the disorder. It was, she said, a "really awful" fate for those families.
"Somebody had to help," she said, and so she started researching the disease and possible treatments, a mission she has continued since arriving at UPMC two years ago.
In some infants, especially those with older siblings who have already died from Krabbe, the disease is detected through newborn screening. Treatment is possible for those children, since a transplant of umbilical cord blood can replace the enzyme they are missing, Dr. Escolar said. Outcomes for the transplant vary, but some children who receive the treatment will be capable of interaction and even walking, able to lead a more normal life.
For Trevor, diagnosis came too late to make the transplant possible.
California, where he was born, does not include Krabbe disease among the screenings given to newborns. The Aldrians, as well as Dr. Escolar, advocate for the disorder to be included in newborn tests in all 50 states.
But the Aldrians' main focus, for now, is on Trevor and children like him, who are unable to receive the transplant treatment and are living with the disease. In 2010, the Aldrians created an organization called The Peace, Love & Trevor Foundation (peaceloveandtrevor.com) to support families whose children have Krabbe. The Aldrians recommend Dr. Escolar to each family they contact.
Educating parents about what the disease entails and how to respond to it is a large part of her interaction with families, Dr. Escolar said.
Steve, Nicole and Tyler Aldrian have a mutation that causes Krabbe, although none has the disease. Since Tyler is genetically similar to his twin brother, Dr. Escolar has involved him in her research, tracking his typical development so she can compare it to Trevor's progress.
Trevor, who weighs 35 pounds, uses a wheelchair. He is nearly blind, but he responds to sounds and he has cognitive function, Dr. Escolar said. He cannot talk or move, and he receives his medicines and food through a stomach tube. Every few minutes his mother uses a suction tool to clear the saliva from his mouth.
At home, Mr. Aldrian said, "it takes an army to take care of him." Recently, Mrs. Aldrian had breast cancer, an additional challenge.
But in November, they will celebrate the twins' fifth birthday, a moment Mrs. Aldrian called "a huge, huge milestone."
"It's an absolute miracle that he's made it this far," she said.
The Aldrians said they do everything Dr. Escolar tells them to do, including physical therapy and carrying Trevor carefully and making sure he is protected from infections. At their annual appointment, Dr. Escolar commended their care.
"He looks great," she said.
The oft-quoted life expectancy for Krabbe disease is two years, but Dr. Escolar said most of her patients live about five to seven years after birth, often dying from infections such as pneumonia.
She thinks, because of the care the Aldrians are giving their son, that he will live for a few more years.
At Children's Hospital, the Aldrians were focused on their son's life, and the love they have for a child who Mrs. Aldrian said "has been an absolute blessing to our family."
"We don't dwell on ultimately what's going to happen," Mr. Aldrian said. "We just appreciate the fact that he's here each and every day."