Inspiring Story Sheds Light On Pompe Disease
A mom chronicles her daughter’s battle with rare neurological disease
A little more than a year ago, Ambrea Jones knew as much about Pompe disease as most of us who watched President Donald Trump’s first address to a joint session of Congress. During his speech, President Trump introduced Megan Crowley and, in the process, her rare disease to the world.
With Megan’s story, President Trump made Pompe a trending topic on the Internet. As Ambrea watched the speech, she could only hope it was the beginning of some much needed attention for the neurological disorder.
Ambrea’s daughter, Atia, was diagnosed with Pompe at Cook Children’s Medical Center when she was 5 months old. At the time, she had never heard of the disease that has forever changed her family’s lives.
“What is it? How do we fix it? Is it something easy?” Ambrea remembers asking doctors after being told of Atia’s diagnosis. “It absolutely has not been easy.”
Pompe, or Pompes, disease is caused by a lack of alpha-glucosidase (GAA). Without this enzyme, the body cannot breakdown glycogen which is the molecule that we use to store the energy from sugars. Glycogen builds up in muscle tissues, including the heart. It can present at different ages, depending on how much enzyme activity is present.
Infantile onset is the most severe. Without recognition and treatment, most infants will die of heart failure by 2 years of age. Older children and adults often have severe muscle weakness, affecting the muscles that allow breathing.
“As with many neuromuscular disorders, brain function is normal, leaving these individuals trapped in a body that is too weak to respond to commands,” said Warren Marks, M.D., medical director of the Movement Disorder and Neurorehabilitation Program at the Jane and John Justin Neurosciences Center at Cook Children’s.
Treatment involves at least biweekly intravenous infusions enzyme replacement (Lumizyme). Early treatment with enzyme replacement can slow the progression of the disease.
Dr. Marks was part of the trials to get the enzyme treatment approved. Atia is now one of three children currently participating in the therapy at Cook Children’s.
It was Feb. 23, 2016, when the Jones’ family journey with Pompe disease began. Ambrea picked up her daughter from day care and was told Atia wasn’t feeling well. Ambrea took Atia to Cook Children’s where she was diagnosed with RSV.
Doctors ran an X-ray and noticed their first clue to Pompe – an oversized heart. More testing continued and more specialists were brought in to care for Atia. “That’s such a good team at Cook Children’s,” Ambrea said. “They were the ones who put two and two together and suspected Pompe.”
Doctors sent tests to Duke University, one of the nation’s leaders in Pompe treatment, and it was confirmed that Atia had the disease. She was then put on Lumizyme.
For the next three months, the Jones family lived at Cook Children’s. Unfortunately, the answer of the diagnosis brought more questions and fears.
“Dr. Marks told us to prepare for the worst,” Ambrea remembers. “He said there was a chance she may not make it a year or even to 6 months because of the adverse effects of Atia’s heart. The fear of losing your child’s life was the hardest thing. But seeing our little girl fight … it drove us, my husband Tim too, to fight. Your child may have a death sentence … no one expects to hear that. But now look at us, a year later and so far, we’ve made it.”
Ambrea said each patient’s journey with Pompe is different. Megan Crowley is wheelchair bound. Atia has a G-button and a port, but right now she’s not sure what will happen in the future.
Tim and Ambrea are carriers of the gene that produces Pompe disease. Their oldest daughter, Amaria, has been tested for the disease and is a carrier, but will not be affected by the disease. Giving the family some relief in what has been a trying year.
Ambrea says the other saving grace for her family has been the care they have received at Cook Children’s. She calls pulmonologist, Karen Schultz, M.D., “my girl.” She says Matthew Dzurik, M.D., a cardiologist at Cook Children’s, helped to discover the diagnosis early and put her in touch with people at Duke for appointments with physicians there.
Dr. Marks has been the glue and constant throughout their daughter’s care and the physical therapists, speech and occupational therapists have “worked our little girl out” both at Cook Children’s and their home.
Atia has a long road fight in front of her, but Ambrea hopes that with the mention of Megan Crowley sheds new light on a devastating disease.
“I know the president can be polarizing,” Ambrea said. “But even if you aren’t a supporter of the president, without a mention of Megan Crowley most of us probably wouldn’t know about her and now Pompe disease. My prayer is now more people will be talking about Pompe. That maybe more people Googled it and that action to better care for our kids who have this disease.”