Ohio family faces uncertainty as 2 sons, husband diagnosed with rare genetic disorder – The Columbus Dispatch

Posted: December 27, 2019 at 1:44 pm

Nathan Anderson and two of his four sons, Griffin, 10, and Brennan, 4, have been diagnosed with a rare mutation on their Runx1 gene. Besides causing easy bruising, excessive bleeding and a tendency to develop hematomas, the mutation predisposes them to certain blood cancers. Wife and mother, Joy Anderson, has become an outspoken advocate for the condition and her family.

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 isnt allowed to play contact sports anymore.

Maxwell, 9, said hes worried about his siblings and parents.

Nolan, 8, said hes tried to be more compassionate, as you never know what someone is facing.

And then theres sweet-yet-rambunctious Brennan. At just 4 years old, he doesnt really understand whats been going on, only that hes had many doctors visits and needle pricks lately.

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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.

"Its 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 in 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 couldnt breathe, like I was having a panic attack," the 41-year-old mother said of the diagnoses. "I tried to Google everything to learn more about it, and there isnt really much out there."

Three people she loves dearly half her family now must 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," she said.

***

The Andersons had spent much of the first nine years of Griffins 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 couldnt help notice the extreme results that sometimes landed him in the hospital to ensure his 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 Childrens Hospital. However, the family still had few answers until a doctor suggested genetic testing in August 2018.

Thats when the Andersons met Elizabeth Varga, a genetic counselor at Childrens, 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. 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, thats 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 youre 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 dont have a great way to gauge who will and who wont."

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 and Brennans 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 its a bit of an odd blessing that two sons have the diagnosis as they dont have to be alone.

"I usually tell Brennan to be brave and we can do it," Griffin said, adding that his youngest brothers silly antics calm his nerves.

The mutation presents differently in Griffin and Brennan. Both bruise easily, but its 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 organizations annual conference. Shes become very active in increasing 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 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 Universitys Arthur G. James Cancer Hospital last December, doctors discovered he had myelodysplastic syndrome (MDS), or pre-leukemia. Hes 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 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 immunity-suppressing drugs is a procedure that wouldnt 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 were dying and some think were getting chemotherapy," said Nathan, who has taken up running to cope with the diagnosis and keep himself healthy. "Others think its 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.

"Were trying to monitor and learn more," she said. "Im 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 its so far into it, we cant do anything to help."

That attitude, Varga said, represents a shift shes detected.

"Previous generations, there was much more of I dont want to know," Varga said. "There was a fear of stigma or discrimination, but younger generations are more embracing (of) 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. Theyll fish and ride bikes and wrestle.

"Theyre boys still, and we want them to live a normal life," Nathan said. "We dont stop."

Griffin has recently fallen in love with playing drums and though his parents dont always appreciate the noise, theyre thankful Griffin has found an outlet other than sports.

The family is thankful for the power the knowledge of this diagnosis ultimately brings them, and with how strong it has shown the six of them to be.

"Its a reminder of just how precious life is," Nathan said. "You might live a long life or you might run into complications. Its a constant reminder to live every day to the fullest."

award@dispatch.com

@AllisonAWard

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Ohio family faces uncertainty as 2 sons, husband diagnosed with rare genetic disorder - The Columbus Dispatch

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