Newborn has rare blood disorder

"We want to make sure it's not her heart," the doctor explained when Steve returned to the hospital. Katie needed to be moved to the neonatal intensive care unit at Stony Brook immediately.

Stacy broke down and cried.

"You have to discharge me, because I'm going with her," Stacy insisted.

Stacy and Katie left in separate ambulances; Steve drove in his car. The intensive care unit was frightening. Beeping machines. Tubes and wires everywhere. Nurses and doctors bustling through.

The Trebings sat elbow to elbow with other parents holding vigil beside bassinets in the NICU. Parents who spend a lot of time in the unit call it the "Nick U" for short.

Doctors quickly ruled out a heart problem. Hemoglobin, the pigment in red blood cells that carries oxygen, continued to plunge. When hemoglobin drops, the heart pumps harder to circulate enough oxygen through the body. That causes stress on a healthy heart.

Katie's doctors wondered if the obstetrician might have lifted Katie from Stacy's body too quickly, which could have sent Katie's blood back into the umbilical cord. Maybe that explained her problem.

To fight the dropping count, Katie needed more blood. So on her first day on Earth, she had her first blood transfusion.

Steve pushed away thoughts his daughter was in mortal danger. For her part, Stacy saw something good in that Katie was bigger than all the other babies in the unit. They seemed tiny, while Katie weighed 8 pounds, 11 ounces, the biggest baby there.

As she tamped down fear, Stacy made a promise to her newborn. Over the next four and a half years, through all the hospital and doctor's visits, this promise would become Stacy's mantra, Stacy's prayer:

"Everything will be fine."

Cause for concern

Almost two weeks after her birth, Katie came home to Nesconset, just in time for Christmas. Everything seemed fine. In early January of 2003, a home health-care nurse made a routine follow-up visit to the house.

"Did you take Katie for a follow-up blood test?" the nurse casually asked Stacy.

"No," Stacy said, puzzled. "Why?"

The nurse pointed to Katie's discharge papers from Stony Brook University Medical Center. A scribbled note from the doctor read: "Suggest follow up CBC." The acronym referred to "complete blood count."

The next day, Stacy took Katie to her pediatrician, Keith Ancona in Smithtown, who sent Katie to a lab for the first of what would become weekly blood tests.

After one of those tests, Ancona called Stacy. "You have to take Katie to Stony Brook immediately," he said.

A normal hemoglobin count for a child measures between 12 and 16; Katie's had dropped to five. She needed a second blood transfusion right away. Stacy's hope that the transfusion after Katie's birth had fixed whatever was wrong crumpled.

"Do I really have to?" Stacy asked, crying.

"She could go into cardiac arrest," Ancona warned.

Now that her hemoglobin count was a recurring problem, Katie began regular visits to the hospital as doctors tried to figure out what was wrong.

Diagnosis: Rare disorder

In the back of his mind, Richard Ancona, the father and medical partner of Keith Ancona, suspected a rare disorder. But until he was sure, he didn't want to alarm the Trebings. When Stacy asked, "What do you think it is?" he would reply, "I'm not telling you because I don't want you to go on the Internet and become a lunatic."

The answer came in March, after doctors removed a piece of bone from Katie's hip. That biopsy confirmed Richard Ancona's fear: Diamond Blackfan anemia.

Two doctors at Children's Hospital Boston, Louis Diamond and Kenneth Blackfan, documented the disease in 1938. The Trebings learned how rare it is -- probably fewer than 1,000 people in North America had it the month it was confirmed in Katie. It affects boys and girls equally and is commonly diagnosed during a child's first year. In some cases it is genetic, in others it's a new mutation.

The disease robs a body's ability to make red blood cells. Red blood cells are created in bone marrow, so the disease is considered a bone-marrow failure syndrome. Red blood cells carry oxygen from the lungs through the body. Not having enough red blood cells is anemia -- hence the name, Diamond Blackfan anemia.

In a stroke of good fortune, the doctor who manages the Diamond Blackfan Anemia Registry of North America is based at Schneider Children's Hospital in New Hyde Park. The Trebings signed up Katie as one of Jeffrey Lipton's patients.

The Trebings boiled down their questions to one: How do we beat this?

Considering the options

Two options treat the disease -- monthly blood transfusions or oral steroids, Lipton told the Trebings at their first appointment, which lasted for hours. Only one treatment could cure it. Katie needed a bone marrow transplant from a sibling who had inherited a specific portion of DNA that exactly matched hers -- the portion that tells the immune system that other cells belong and are not foreign invaders.

Katie already had started blood transfusions. Lipton told the Trebings these transfusions would cause iron buildup in Katie's organs. That's because more iron is deposited in Katie's body with each transfusion and it accumulates.

To combat iron buildup, within 24 months Katie would have to be hooked up five nights a week to a pump that would release a drug called Desferal into her system as she slept. The pump would be connected to the body by a needle inserted into Katie's thigh or abdomen. The drug would pick up iron and discharge it each time Katie urinated, a process called chelation. She would have to use it for the rest of her life, or until scientists came up with a better alternative.

Current studies showed more than 40 percent of Diamond Blackfan patients undergoing transfusions died by their 40s, Lipton said, their internal organs worn down and eventually wiped out by the toll of the excess iron.

Lipton wouldn't try the second option, oral steroids, which could trigger the body's ability to produce red blood cells, until Katie was at least a year old, because they also inhibit growth. Only 20 percent of Diamond Blackfan patients go into extended remission without needing any further treatment. Moreover, how long such a remission could last was anyone's guess.

Even if Katie were one of those lucky ones, taking steroids would have long-term side effects that could include weight gain, high blood pressure, increased susceptibility to infection, glaucoma, cataracts, severe mood swings and premature osteoporosis, or weakening of her bones. Some patients on steroids have needed joint replacement surgery while only in their 20s.

An option that could be a cure

The final option was a bone marrow transplant from a sibling with exactly the same human leukocyte antigens as Katie. These antigens are, in effect, the secret password that tells the body's immune system not to attack.

Every cell in a human body has a DNA code on it identifying it as a member of the club, so to speak. If another cell appears in the body that does not bear that identical pattern, the immune system treats it as a foreign invader. That's why bone marrow transplants using exact antigen matches are the most successful.

Lipton then broached the idea that the Trebings consider having another child -- a specially selected child.

But a bone marrow transplant from that new child would be a perilous procedure for Katie, Lipton cautioned. She would be isolated in a hospital room for at least a month while her body worked to accept the new bone marrow. She would be susceptible to disease for months; even a common cold could kill her. She'd be isolated even after returning home from the hospital; she'd have to take immune-suppressing drugs for almost a year. In the long run, she'd likely go through premature menopause and never have biological children. But she would have a greater than 90 percent chance of being cured.

And what about their new child?

Transplant from donor child

After the birth of the donor sibling, the umbilical cord is saved. At the appropriate time, the cord blood is transplanted intravenously into the sick child to produce new, healthy bone marrow. In the best case scenario, the donor child isn't called upon again. But in cases where the cord blood isn't sufficient, the new baby's bone marrow would have to be removed from the hips and transplanted, a potentially painful procedure performed in an operating room under general anesthesia.

Steve and Stacy worried most about whether removing a cell from an embryo would be harmful to the child that grew from it, causing unforeseen health problems in the future. The Trebings learned there was no way to definitively answer the question: preimplantation genetic diagnosis was only a little more than 14 years old, so the oldest people born from the process were younger than 18. On top of that, there was no official database they could consult to address their concerns.

First donor child in 2000

The stacking of the three procedures -- fertilization, diagnosis and then a bone marrow transplant -- was first done successfully in 2000, when a Denver boy named Adam Nash was conceived as a match for his then 6-year-old sister, Molly. Molly had a more dangerous bone marrow failure syndrome than Katie -- Fanconi anemia -- and was close to death at the time of her transplant.

The whole concept was mind blowing to Steve. All along, the Trebings, both 33, had wanted to have three children. But after Katie was diagnosed, they put that dream on hold. Now that third child could -- if everything came together perfectly, if one piece of the puzzle clicked into another -- cure their daughter. It felt to Steve like a gift.

Having a 3rd child

Steve and Stacy thought about it for months. Then they made their decision.

"Every child is a miracle," was the way Stacy saw it. "This child would be a miracle just like my other two children are. The fact that this child would be a match for my daughter is just another miracle. So we would be doubly blessed."

On each day leading up to Stacy's first attempt to get pregnant through in vitro fertilization, Stacy injects herself in the stomach with a hormone to stimulate her ovaries to mature far more than the normal one egg per menstrual cycle.

At the end of the month, Steve and Stacy drive to the offices of Reproductive Specialists of New York in Mineola. There, reproductive endocrinologist James Stelling sedates Stacy and surgically withdraws eggs from her ovary. The eggs are fertilized with Steve's sperm.

But a glitch occurs.

Stacy's ovaries, Stelling determines, have become hyper-stimulated by the hormones and need time to settle down before she can be impregnated.

So Stelling freezes the embryos in his laboratory and the process stalls for a month.

Katie's hospital ordeals

While the embryos lie frozen, Katie has her 20th blood transfusion at Stony Brook. Her lips are trembling so much her binky is in danger of tumbling from her mouth. Her brown pigtails bob up and down as she squirms in Stacy's lap, first struggling to escape, then melting backward into her mother's chest.

At 18 months old, Katie is too young for bravery. She's afraid of what's coming. She has a name for it: her "boo-boo."

"Let's sing 'Barbara Ann,'" Stacy suggests to the two nurses who surround Katie in the pediatric hematology unit. They begin to warble the Beach Boys' classic.

As the singing distracts Katie, nurse Pattie Losquadro -- whom Stacy has gratefully nicknamed "one-shot Pattie" -- inserts a needle into the crook of Katie's right elbow.

"All done, all done," Stacy whispers to Katie.

On each drive to the hospital, Stacy and Katie pass a playground. On this day, as Stacy saw all the children playing on the swings, she had the same thought she had on her earlier trips: "That's where we should be, instead of heading to the hospital."

On this muggy June day, when thunderstorms are threatening, Katie settles down to spend most of the day in the hospital. After so many visits, Katie has mastered the secrets of a unit designed for sick children. She wriggles off Stacy's lap and walks to a gray metal file cabinet. She pulls open the second drawer from the bottom, where she knows there's a cache of Cheetos, Three Musketeers bars and Reese's Peanut Butter Cups.

Katie's intravenous line is hooked to a rolling stand with a suspended bag of blood that is pumped over several hours into her body. Stacy's challenge is to keep her daughter -- who gets more and more energetic as the new blood revitalizes her -- entertained for hours.

They play hide and seek with the nurses, Katie too young to realize that her rolling IV stand is a giveaway. Sometimes Stacy sits Katie on the box in the middle of the IV pole that measures the rate of blood flow, one leg on each side of the pole, and pushes her around the hematology unit as if the IV stand is a go-cart. They meander the hallways, counting the fish in the colorful pictures on the walls.

In between transfusions, Katie seems like a healthy child. One sunny June evening she's playing in the backyard with Calvin and the Trebing's lumbering Saint Bernard, Hobbes. The yard is adjacent to where Stacy grew up.

Stacy's grandparents bought all the land on her block in the 1950s, so now Stacy, her parents, her two sisters and her brother all own houses next to each other. It turned out to be a blessing to have family so close by to help baby-sit Calvin when Stacy has to take Katie to the hospital.

Steve grew up on the South Shore, in North Babylon. His dad worked for NYNEX. Seven years ago, his parents bought a house on Fire Island, in Ocean Bay Park, and now Steve's dad is retired and Steve's parents split their time between North Babylon and the beach house.

"Dad fishes, mom walks the beach," Steve says.

Both sides of the family will need to pitch in as the next few years unfold. Steve owns a business that he started in 1994 putting up party tents for weddings at North Fork wineries and political fundraisers in the Hamptons. During the peak summer season, he all but works around the clock. Stacy worked as a physical therapist until Calvin was born.

Steve stands in the kitchen watching Katie play with Hobbes in the yard. He cups his hands on either side of his eyes as though wearing blinders. "We're doing it for her," he says, looking at his daughter.

Stacy feels the same way. At the core of it all is their child. This plan might give her a normal life.

"Although I'm not a very religious person," Stacy says, "I thought, 'Should I be doing this? It's new. It's controversial. There are people who think it's not the right thing to do.' Then I look at Katie."