ARLINGTON — As Joy Anderson tucked her four boys into their beds one recent evening, she asked each of them to reflect on the difficult year the family has had.
Oldest son Griffin, 10, expressed anger and sadness, especially because he isn’t allowed to play contact sports anymore.
Maxwell, 9, said he’s worried about his siblings and parents.
Nolan, 8, said he’s tried to be more compassionate as you never know what someone is facing.
And then there’s sweet, yet rambunctious, Brennan. At just 4 years old, he doesn’t really understand what’s been going on, only that he’s had many doctor’s visits and needle pricks lately.
A little over a year ago, the Anderson family received news that rocked their world: Brennan had tested positive for the Runx1 gene mutation.
It was the third such blow for the family, who hails from Arlington, a village in Hancock County outside of Findlay, in just a few short months. Griffin first received the same diagnosis in August 2018 followed by their father, Nathan, in November that year and now Brennan.
Maxwell and Nolan, fortunately, do not share the mutation.
“It’s like a 50-50 chance of being passed down,” Joy said. “In that case, I felt like we were a living statistic.”
But their situation is anything but routine: Only 120 individuals across the world have been diagnosed with the mutation.
Visible symptoms of the disease, which causes platelet abnormalities, include easy bruising, excessive bleeding and a tendency to develop hematomas. But the most distressing part is its predisposition (40% to 70%) to certain blood cancers.
“I felt like I couldn’t breathe, like I was having a panic attack,” the 41-year-old mother said. “I tried to Google everything to learn more about it and there isn’t really much out there.”
Three people she loves dearly — half her family — must now be followed regularly by a hematologist and undergo bone marrow biopsies annually to monitor for cancer.
“Little did I know we would have such a domino effect after we all got tested.”
The Andersons had spent much of the first nine years of Griffin’s life trying to figure out what caused his bruising and the huge goose eggs that would form on his body.
Sure, he was an active boy, but with each small accident, his parents couldn’t help notice the extreme results that sometimes landed him in the hospital to ensure the blood had clotted.
Doctors in Toledo offered a general diagnosis of low platelets and a blood disorder when Griffin was 3 and prescribed special medication to use during surgeries.
He began seeing various hematologists at Nationwide Children’s Hospital. However, the family still had few answers until a doctor suggested genetic testing in August 2018.
That’s when the Andersons met Elizabeth Varga, a genetic counselor at Children’s, who counseled them what results might yield.
Four weeks after Griffin had blood drawn for the genetic tests Varga called to say they found something.
Runx1 is a gene involved in the making of blood cells so if there is an abnormality, it can impair the production of platelets, which help blood clot.
Patients are predisposed “to something called myelodysplastic syndrome, which is essentially a pre-leukemia state that can evolve and change to be a cancer of the blood.” Varga told the family.
Typically, that’s acute myeloid leukemia, which is most common in adults over 60, but the Runx1 mutation increases the risk for AML in all ages.
“So basically from the time of birth you’re kind of set up to have that evolution,” Varga said. “However, not all patients that have a Runx1 abnormality will ever get cancer … right now we don’t have a great way to gauge who will and who won’t.”
To deliver this news to Joy, was very difficult, said Varga, who has three young sons.
Each phone call, Joy said, felt like a “sucker punch,” as she struggled to learn what this would mean for their family.
In the days leading up to Griffin’s and Brennan’s first bone marrow biopsy in December 2018, the elder brother watched YouTube videos of the minor, but uncomfortable procedure, which is the best way to monitor changes.
“I was interested in it,” the fifth grader said. “I want to be an ER doctor when I grow up.”
Joy and Nathan Anderson said it’s a bit of a blessing two sons have the diagnosis as they don’t have to be alone.
“I usually tell Brennan to be brave and we can do it,” Griffin said, adding that his youngest brother’s silly antics calm his nerves.
The mutation presents differently in Griffin and Brennan. Both bruise easily, but it’s much more pronounced in Griffin.
Brennan has dealt with a slew of pulmonology issues — asthma, seven bouts with pneumonia — that may be linked with the gene mutation.
Discovered only 20 years ago, very little research has been done on the mutation, making it difficult to discern what symptoms are caused by it, said Katrin Ericson, executive director of the Runx1 Research Program, a California-based nonprofit group that funds research and provides patient support.
Earlier this year, Joy Anderson was the first patient family representative to speak at the organization’s annual conference as she’s become a very active advocate to increase awareness of the Runx1 mutation, which is underdiagnosed, Ericson said.
Based on epidemiological estimates, between 2,000 and 18,000 people in the United States could be living with it.
Ericson said the organization is thrilled that in May the National Institutes of Health (NIH) launched the first longitudinal, natural history study of Runx1. The Andersons are one of 25 or so families participating and they traveled to Bethesda, Maryland, in June for testing.
“These patients have really been struggling with this most of their lives,” Ericson said. “They had no idea they had this mutation. Maybe they were misdiagnosed at first.”
There can be guilt felt by parents for passing it unknowingly to their children, and Joy said her husband feels this way.
Nathan — his parents tested negative — never experienced symptoms, he said. However, looking back, routine blood work often showed low platelet counts.
“Shortly after the diagnosis, I was at a charity event for work and I was chopping wood,” Nathan said. “I noticed that I had bruises up and down my arm.”
During his first bone marrow biopsy at Ohio State University’s Arthur G. James Cancer Hospital last December (where he is treated), doctors discovered he had myelodysplastic syndrome (MDS), or pre-leukemia. He’s unsure what this means for the future, except continued monitoring.
Nathan and his two sons will travel to the NIH in the summer for follow-up biopsies. (Griffin and Brennan had a second one in June with zero changes.)
The boys also have blood work drawn every few months.
“Our hope is if we do more frequent surveillance for MDS, that we will hopefully be able to be preemptive,” Varga said. “If we do see any progression, the only cure right now is a bone marrow transplant.”
However, a bone marrow transplant — which requires chemotherapy and a lifetime of immune-suppressant drugs — is a procedure that wouldn’t be done without good reason, Varga said.
One of the biggest challenges of having a genetic disorder, Joy and Nathan agreed, is explaining it to others.
“Some people think we’re dying and some think we’re getting chemotherapy,” said Nathan, who has taken up running to cope with the diagnosis and keep himself healthy. “Others think it’s not a big deal.”
People have questioned the necessity of “putting our kids through all this,” Joy said. Others have said that everyone would find something wrong if they did genetic testing, she said.
“We’re trying to monitor and learn more,” she said. “I’m all about being proactive. I feel like what if we never even did anything about it, and then one day this has progressed to leukemia and it’s so far into it, we can’t do anything to help.”
That attitude, Varga said, represents a shift she’s seen.
“Previous generations, there was much more of ‘I don’t want to know,’” Varga said. “There was a fear of stigma or discrimination, but younger generations are more embracing knowledge and being powerful.”
For now though, the Anderson boys will continue to climb on top of their swing set and run in the field behind their house. They’ll fish and ride bikes and wrestle.
“They’re boys still and we want them to live a normal life,” Nathan said. “We don’t stop.”
Griffin has recently fallen in love with playing drums and though his parents don’t always appreciate the extra noise, they’re thankful Griffin has found an outlet other than sports.
They family is thankful for the power the knowledge of this diagnosis ultimately brings them and with how strong its’ shown all six of them to be.
“It’s a reminder of just how precious life is,” Nathan said. “You might live a long life or you might run into complications. It’s a constant reminder to live every day to the fullest.”