Franklin’s Community Spotlight —Annie & Wyatt Medlen

“Can you imagine? I fed my son toxic poisonous carbohydrates for two years without even knowing, and he has brain damage from it…” Annie Medlen’s voice trembles as she recounts the painful discovery that would change her life forever.

Annie carries a pathogenic mutation in the PDAH1 gene, a fact she was unaware of until her two-year-old son, Wyatt, was diagnosed with Pyruvate Dehydrogenase Complex Deficiency (PDCD). It’s a journey that began with the innocence of childhood. Annie remembers being a “clumsy” kid, the kind who’d wander off to the concession stand during soccer games. Yet, there were no early signs of a significant difference or issue.

As she grew older, Annie faced the heartache of struggling to conceive. Her doctors suggested a gastric bypass surgery, attributing her difficulties to her weight. Little did they know, this surgery would set off a chain of events that would forever alter Annie’s life.

“After I had a gastric bypass surgery, I know it sounds weird, but apparently I had this underlying mitochondrial change in my DNA,” Annie recalls. She started losing weight rapidly, her body consuming its muscles and organs shutting down. She found herself unable to walk, relying on her 18-year-old brother for assistance. Doctors were baffled, and after stabilizing her health as best they could, they sent her home.

Annie lived in a physically limited condition for years, enduring the agony of dying nerves and constant pain. Then, a miraculous turn of events in 2019: “I got pregnant. Out of nowhere. It had been 11 years of trying at that point.” The pregnancy was a ray of hope, a joyous occasion that seemed entirely typical. Her son, Wyatt, was born, and while there were some challenges, nothing appeared unusual.

“He was born at 37 weeks, so that wasn’t super uncommon. He had a slightly undeformed lung, but they said again, that he was born early and it would form while he was in the NICU… he had normal baby stuff like acid reflux, and we thought he was colicky because he wouldn’t sleep, but again, like, typical milestones, nothing out of the ordinary.”

Life was seemingly back on track until Wyatt’s second birthday when everything changed. “On his second birthday, we took a trip to Florida to see my mother-in-law. On our way home, he started collapsing.” Annie describes the terrifying moment when Wyatt’s legs gave way, and they rushed him to a hospital in Pittsburgh.

The initial diagnosis was “post-viral ataxia,” a term that offered little comfort as Wyatt’s condition worsened. Frustrated and fearing for her son’s life, Annie pushed for further evaluation. It was a decision that would unveil a baffling and rare condition. “They found he had bilateral brain lesions on his globus pallidus, which is super uncommon because that can’t happen from an external injury. That can only happen from very few things, like a metabolic disease.”

Wyatt’s condition confounded medical experts, leading to an extensive virtual medical conference with over 30 doctors from across the country. Nobody could pinpoint the cause until stabilized his health with steroids. Annie and Wyatt were sent home, awaiting the results of a genetic test.

In the interim, they received blood test results that revealed Wyatt’s significant B1 vitamin deficiency. Rushed back to the hospital, he was diagnosed with “Wernicke-Korsakoff” syndrome, a condition typically associated with alcoholism. Finally, the genetic test results arrived, unveiling two intriguing variants. One was an empty ND3, predicted as benign, while the other was the PDAH1 variant, classified as VUS (Variant of Uncertain Significance).

Despite the ambiguity, Annie’s persistence led her to a research doctor specializing in the PDHA1 gene. The moment of clarity came when the doctor ran the results through “Franklin.” “And sure enough,” Annie recalls, “he ran it through Franklin and was like, oh my gosh. This gene is so pathogenic! He was able to see where it’s located in the chromosome and everything that is definitely damaging.”

The diagnosis shifted from uncertainty to Pyruvate Dehydrogenase Complex Deficiency (PDCD), explaining Wyatt’s B1 vitamin deficiency and other symptoms. Annie explains the intricate process: “Carbs then go to this channel, this pyruvate channel, which we then use the vitamin B1 to, like, do a little mixture, turn into energy. Well, the reason he was out of B1 is because for the past two years, we didn’t know because we didn’t see signs yet. His body was just consuming all that B1 to try and process the pyruvate that his body had too much of, so that’s why eventually he ran out, and it wasn’t until he ran out and the damage was done.”

PDCD, an X-linked disorder tied to abnormal mitochondrial metabolism, prompted genetic testing for Annie. The results unveiled an additional layer of complexity. “82 percent of my cells have the mutation and 18 percent are called ‘wild type.’ So instead of being like 50–50 or close to it, I’m 82 and 18, which sets the protection for my cognitive and physical abilities.” The trauma of her gastric bypass surgery accelerated the disorder in Annie.

The genetic diagnoses offered clarity and understanding after months of dismissals by doctors. Yet, it also came with a harsh reality — there’s no cure for Wyatt’s rare disease due to its lack of profitability. The words, “it’s not profitable to cure,” echo in Annie’s ears.

But Annie is not one to give up. She turned to Facebook to find other parents facing PDCD, forming the Hope for PDCD Foundation. This foundation is on a mission to raise funds for research, advocate for newborn screening, create a patient registry, and spread awareness among clinicians, researchers, and hospital staff.

Annie’s tireless efforts, alongside other leaders of the Hope for PDCD Foundation, have raised over $500,000 through bake sales, campaigns, and support from friends and family. They’ve engaged with politicians and senators to lobby for change, opening channels of communication to ensure that other families don’t face the same hardships. Their latest success was gaining the commitment of the Florida State Senator for funding and advocacy, including PDCD in the National newborn screening recommendation panel.

Annie’s story is one of resilience, hope, and a mother’s unwavering love. It’s a reminder that even in the face of daunting odds and a system that prioritizes profit over people, the human spirit can drive change and bring hope to those who need it most.

To read more about PDCD, visit our latest “ShareForRare” blog

To read more about “The Hope for PDCD” foundation click here

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