Kendall Gastelu and Rebeca Mead had easy pregnancies, and they were looking forward to becoming moms.
Neither had an inkling her son would be born with a rare blood disorder – one so unusual that their doctors didn’t even think to test for it when the newborns were fighting for their lives.
For Kendall and Gary Gastelu, the nightmare of pyruvate kinase deficiency (PKD) began the day after their son Roman was born one year ago.
“We woke up the next morning and the doctors told us he was in the intensive care unit with a serious case of jaundice and he’d have to stay there under the lights until they could get his bilirubin number down,” said Roman’s father, Gary, who is the leisure sections editor for FOXNews.com.
“We took him home a week later, and went to the hematologist the day after that, where they determined he had a very low hemoglobin number and needed an immediate transfusion. At that time, they still didn’t know the cause of his trouble.”
Alexander Mead faced similar complications when he was born eight years ago. His kidneys and liver were failing, and his heartbeat was irregular.
“They told us there was a good chance he would not make it,” said Rebeca Mead, 39, of Geneva, Ill., referring also to her husband Matt, 38. “It was completely unexpected.”
A blood transfusion saved Alex’s life, but the Meads did not have a diagnosis. Doctors chalked his illness up to a virus or a fluke. But by six weeks, Alex had stopped eating and his red blood cell count was 2.5. The average is 4.8 – 7.1 million red blood cells per mcL or 4.8 – 7.1 x 1012/L.
“That’s how they knew something was wrong,” said Mead, who works as an independent contractor. “But, he wasn’t diagnosed until he was 9 months old.”
In both cases, the diagnosis turned out to be PKD — a hemolytic anemia, or a disorder of the red blood cells, said Dr. Suchitra S. Acharya, a pediatric hematologist and oncologist at New York Presbyterian Hospital/Weill Cornell Medical Center.
The lack of pyruvate kinase causes the red blood cells to break down easily, resulting in low levels and chronic anemia, said Acharya, who treats 1-year-old Roman Gastelu.
Newborns should have hemoglobin levels of more than 14 grams per deciliter, Acharya said.
Like Alexander, Roman’s hemoglobin count was low – six to be exact.
By chance, the Gastelu and Mead families connected in an online support group. Much of PKD remains a mystery, and little research is being done. But both mothers have a public plea: Healthy blood donors are needed. In fact, they are essential to keeping PKD babies alive.
“When Alex was born, it was such a surprise situation,” Mead said. “He was able to get a transfusion within minutes, and we were so grateful for that. It struck me that if someone hadn’t gone in and donated that blood, he wouldn’t have survived. I always hear about people who need [transfusions] because of surgeries or car accidents, but I never pictured a baby needing it. I didn’t donate before; now I host blood drives regularly.”
“I don’t know that you ever know what to expect as a mom,” said Kendall Gastelu, 41, the Northeast bureau chief for FOX News Channel. “You find out and then you deal with it. It’s all new to me.”
Until he was 5, when doctors removed his spleen, Alex received a blood transfusion every few weeks. Now he can go longer intervals without them, Mead said.
“The red blood cells tend to gather in the spleen of PKD patients, and the spleen enlarges,” Acharya said, explaining why many patients need their spleens removed.
Roman usually requires transfusions every seven weeks; his parents anticipate he will someday need his spleen removed.
“We’ve been really lucky, compared to other stories,” Kendall Gastelu said.
In the Meads’ case, the ordeal wasn’t over. A genetic counselor tested Rebeca and Matt, who are carriers of the disorder (like the Gastelus), and they were told they had a 25 percent chance of conceiving another child with PKD.
“It was a leap of faith,” Mead said of deciding to become pregnant again. “One counselor asked us if there was a 25 percent chance of rain, would we still go on a picnic. We decided it was a low risk, but this time if there were symptoms, we had a place to start.”
So, five years ago, Mead got pregnant. Again, it was an easy, normal pregnancy. But within seconds of her birth, baby Claudia was put on life support. She had PKD.
“It was heartbreaking," Mead said. "We had that sinking feeling – ‘oh my gosh, it’s starting again.’”
It was challenging, Mead admitted, having two children under the age of 3 who needed frequent trips to the hospital for blood transfusions. But she wouldn’t change anything if she had to do it over.
“Today, they are fabulous,” Mead said. “They are happy, well-adjusted kids. You would never know they have been through so much. They are ordinary mischievous rascals.”
Individuals with PKD can live normal lives; the Mead family is involved in Tae Kwon Do, and Alex is testing to receive his black belt.
Alex also plays soccer, and Claudia is learning how to ride horseback. Roman, who is starting to walk, is an active, cheerful toddler who is interested in books and anything weather-related. He has been very healthy, but he must keep up with his transfusions.
“He loves books,” Kendall Gastelu said of her son. “It’s the funniest thing; he’ll laugh at all the funny parts.”
But there are risks and precautions. Roman, Alex and Claudia are prone to infections, and they can tire easily, especially when their red blood cell counts drop.
Statistics of PKD
Medical experts weren’t aware of PKD until the 1960s, Acharya said, and because of its rarity, little research is being done.
It is estimated that one in 20,000 white people have the disorder, she said, but “no one has a good estimate.”
“There is a lab in California doing research. But I don’t think they’ve made a whole lot of progress. Roman is my second patient with the disorder in the six years I’ve been practicing medicine.”
Importance of Donating Blood
What's most important for the Gastelus and Meads is that blood is available for their children.
“There’s almost always a shortage of blood products,” said Dr. Robert Jones, president and CEO of the New York Blood Center. “It’s very difficult for us to keep up. It’s a chronic problem across the country. Unfortunately, there are so many genetic blood disorders.”
Kendall Gastelu can donate her own blood to Roman, since they are a perfect match for his A Rh positive blood. But she is allowed to donate only every 45 days.
That’s why it’s so important for healthy individuals to go out and donate blood, she said.
Mead – whose blood matches Alex’s – does not donate her blood to him, because her doctor does not want him to build up immunity to it in case he should someday need a bone marrow transplant.
“People always wonder if a bone marrow transplant could be helpful,” Acharya said. “There are only a few case reports. Only one or two; not more than that. So, it’s hard to say.”
Luckily, a bone marrow transplant is unlikely for the Mead children, since the spleen removal worked so well, Mead said, and family friends regularly rotate donating blood.
“You want to do the best thing for your child – and no one seems to know what that is,” said Kendall Gastelu. “That’s the hardest part.”