Galactosemia Family Stories

Parents of two young patients with Type 1 galactosemia tell stories of their children’s diagnoses, and their own experience with classic galactosemia. A 28-year-old patient with classic galactosemia offers his thoughts on living with the disorder and how he meets those challenges every day. His father provided additional perspectives.

Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.[1] Type 1 galactosemia is caused by mutations in the GALT gene, leading to a profound deficiency of the GALT enzyme. This enzyme is required to break down galactose, a simple sugar endogenously produced by the body that is also found in dairy and other foods including breast milk.[1,2] A diet that restricts lactose and galactose is lifesaving in the first weeks of life. However, dietary intervention is inadequate in preventing long-term complications of the disease. The body produces significant, continuous levels of galactose, which is hypothesized to contribute to the long-term complications.[1]

Galactose plays a key role in the production of glycolipid and glycoproteins and is also involved in energy production, protein utilization and transport, and tissue synthesis. Without sufficient functional GALT enzyme, patients with galactosemia can experience excessive blood and tissue concentrations of galactose and its metabolites including galactose 1-phosphate (Gal-1p) and galactitol. This accumulation can be toxic and may harm organs and tissues throughout the body.[2,3]

To learn more about this rare genetic disease, visit our Type 1 Galactosemia Roundtable Discussion and Type 1 Galactosemia Resource Center.

 

Allison and Brooks Woodfin

Allison Woodfin told the story of her son Brooks, who was diagnosed days after birth with classic galactosemia. Allison described the shock of hearing the news that her seemingly healthy baby had jaundice and liver damage, possible infection, blood clotting issues, and abnormal blood sugar levels. Brooks needed intensive, team-based care to recover from the initial neonatal crisis.

Once stabilized, the health care professionals told Allison that “all you need to do is stick to the diet, and Brooks will be fine.” Allison emphasized that this is not the case. “Dietary restriction is not a treatment. It is the bare minimum. All our bodies naturally produce [galactose]. Unfortunately, he doesn’t have the ability to break it down.”

 

Megan and Ava Lilja

Megan Lilja described her daughter Ava’s journey through her pediatric development. “School is a struggle for Ava,” she said. Ava receives special education services, occupational therapy, speech therapy, and daily assistance at school.

Megan, based on her occupational therapist training, hoped to avoid the many neurological, cognitive, and developmental impairments associated with Type 1 galactosemia as Ava’s birthdays passed. However, these problems became apparent and seemed to accumulate over time. “Sometimes, it feels like it just doesn’t stop,” said Megan. “Unfortunately, I don’t think we’ve reached the end of that yet.” She is very concerned about Ava’s future: her cognition, her vulnerability, gaining basic life skills (e.g., to gain and hold a job, being able to pay her own bills, simple organizational skills), the effect of galactosemia on fertility. “I believe we need to advocate for this disease—it is more than just a dietary restriction,” concluded Megan. “Galactosemia has affected just about every part of our lives and our daughter’s life.”

 

David and DJ Trainor

David Jr. (DJ) Trainor is a 28-year-old with classic galactosemia. He and his father, David, provided a glimpse into how DJ meets the challenges of everyday life with the effects of galactosemia, including speech apraxia. DJ spoke about his disease, a metabolic disorder, and his dietary restrictions. “It is hard to talk to people,” DJ said, when asked what was one of the major effects of his speech disorder, a complication of galactosemia. Today, he likes going to the desert and operating remote-controlled cars.

Around the time DJ reached puberty, his absence seizures and tremors became more prevalent. Based on a neurological exam and MRI, it was apparent that DJ had changes to his brain’s gray and white matter, a neurologic complication of his galactosemia, which was not going to get better but could worsen over time.

His dad, David, said, “DJ has been a classic galactosemic young man, little boy, infant, who since 9 days of life, has overcome, surpassed, proved people wrong, and just trudged on through life as if there were no issues. He’s an incredible young man, who keeps it up daily with a smile on his face, all the time.”

 

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