Life With ALD: Parenting Two Boys Who Have a Life-Threatening Disease
Suzanne Flynn, a mother from New York, is raising two boys with Adrenoleukodystrophy. Here's her story about the discovery and management of a disease that—without early identification and vigilant monitoring—could be fatal.
When Suzanne Flynn welcomed her son Patrick into the world three years ago, she and her husband Ken were overjoyed. Patrick, their third child, was a big, beautiful boy and a miracle after four miscarriages. Suzanne and Ken were ready to bring Patrick home to big sister Charlotte and big brother Gavin and start their family of five.
Two weeks later, the pediatrician called to say baby Patrick tested positive for Adrenoleukodystrophy (ALD), a potentially deadly genetic brain disorder that destroys myelin, the protective coating that surrounds neurons. The most devastating form of the disease, which most severely affects boys and men, occurs in childhood: According to The Stop ALD Foundation, "normal, healthy boys suddenly begin to regress." Symptoms first show up as behavioral problems like withdrawal or difficulty concentrating. But then the disease ravages the brain; symptoms include blindness, deafness, loss of muscle control, and dementia. Once discovered, the disease "leads to either death or permanent disability, usually within 2 to 5 years from diagnosis." Patrick would grow, walk, talk, play, learn to read, and then have it all taken away. Suzanne and her husband would very likely watch Patrick die.
But initially, Suzanne had hope: This newborn test was brand-new (in accordance with Aidan's Law, it had been added to the newborn screens in New York only two months prior to Patrick's birth) and Patrick's results were borderline, meaning it could be a false positive—which is exactly what Suzanne believed. She had seen Lorenzo's Oil, an Oscar-nominated film about a family who searches for a cure for their son who suffers from ALD, so while she knew that ALD, which strikes roughly 1 in 18,000 people, could be a death sentence, she chose not to worry. A pediatric nurse herself, Suzanne knew that new blood tests often had errors. Additionally, the Flynns had no family history and Suzanne already had two healthy babies. Surely, the follow-up test would come back negative.
Two weeks later, after a great day with the kids—painting with Charlotte, taking Gavin to LEGOLAND, Patrick still being an easy, perfect baby—Suzanne got the devastating news. Patrick did indeed have ALD. Her pediatrician advised Suzanne to call the genetics department at Columbia Presbyterian first thing on Monday morning. Suzanne told Ken and watched him crumble, a 6'6" usually stoic man in the throes of despair, barely able to stand.
A week later, Suzanne and Ken received even more crippling news: Their older son Gavin also tested positive for ALD. Moreover, the disease generally appears in boys between the ages of 4 and 10—and Gavin was already 4 and a half years old at the time. Suzanne feared she would lose both her sons. She contacted Dr. Gerald Raymond, a Minnesota-based pediatric neurologist and an expert on ALD, who assured her it wasn't too late for Gavin. Gavin got an MRI immediately and Suzanne overnighted the disk to Dr. Raymond. The reult: the disease hadn't set in yet. "It was a miracle," Suzanne says.
Life After the Diagnosis
Since the diagnosis Suzanne has learned everything she can about this potentially life-threatening disease. (Learn more about ALD.) The boys get MRIs every six months. If an anomaly appears, they'll need a bone marrow transplant—but the good news is that their sister, Charlotte, is a perfect match for both brothers if they need transplants. And in what Suzanne considers another miracle, Charlotte is not a carrier for the genetic disorder, meaning she won't pass it on to her own children (since ALD is x-linked).
As the Flynn family manages ALD, daily life for Gavin and Patrick looks similar to that of healthy boys. They are growing well. Gavin is thriving in second grade; he loves his friends and playing sports. Both sons adhere to a low-fat diet and take Lorenzo's Oil, combination of fats extracted from olive oil and rapeseed oil that reduces the levels of very long chain fatty acids (VLCFA) that cause ALD.
Suzanne is candid about life with kids who have this rare disease. She's open with friends and the surrounding community because she doesn't want her boys to get the message that having ALD is something to hide. "Gavin and Patrick should know that being different is good—and it's exactly how God made them," she says, adding that she wants her children to embrace the disease, love themselves, and take responsibility for their care.
"It's not an easy journey. We live our lives in this holding pattern," she says. "But we're going to make good with this disease. ALD reminds us to mindful about the way we live and to cherish each moment."