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.”

Megan and her brother Patrick battle Pompe disease, a rare neuromuscular disorder. Her father has spent nearly two decades raising money to fund research for drugs to fight Pompe. A story told in the movie, “Extraordinary Measures.”

The use of an experimental drug isn’t an uncommon practice at most major hospitals, including at Cook Children’s, including for Pompe disease.

For more than a decade, Cook Children’s has been involved with research for Pompe disease. Testing and treatment are available at the medical center. Treatment involves frequent intravenous infusions of enzyme replacement (Lumizyme). Enzyme replacement can slow the progression of the disease, as it has in many Cook Children’s patients.

Alglucosidase alfa was an approved drug indicated for use in patients with Pompe disease and marketed in the United States as Lumizyme and as Myozyme. Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control.

The drugs used for treatment for Pompe, like most of experimental medications under research at Cook Children’s, were pursued because our physicians wanted the capability to treat their patients in the best way possible. Most of the time, they weren’t opening a trial and then looking for patients to participate. They sought out the medication that would make a difference for their patients.

What is an experimental drug?

An experimental drug is a substance which may be useful to diagnose or treat disease or preserve or enhance health, but has not yet been approved by the U.S. Food and Drug Administration for the specific purpose of treating a patient.

“The drug might or might not be approved for one or a number of conditions, but it becomes ‘experimental’ when used to systematically investigate treatment for an unapproved condition,” said James Marshall, M.D., Chief Research Officer at Cook Children’s.

The importantance of 'informed consent'

The data obtained from the use of experimental drugs can be useful to future patients as doctors can see how beneficial they are the next time they are treating a patient with a similar condition.

At Cook Children’s, children participate voluntarily in all experimental drug investigations. Patients and their families, particularly in the case of minor children, must volunteer to participate in any experimental investigation through a process called informed consent.

Informed consent for children is regulated heavily by the U.S. and international governments. This type of consent is managed by a local board concerned only for the safety of research subjects, and far more comprehensive than the normal treatment consent process. Informed consent for children has several key elements:

• Education by the investigator and his/her team regarding all aspects of the research.
• Informed consent or actually signing a legal document by a minor child’s parent or legally authorized representative.
• Assent or documenting that a minor child understands and agrees to participation, and a continuous, open and welcome ongoing conversation between the participant/family and the investigational team to assure understanding through all phases of the research.

The initial consent/assent process can take several hours, and investigators never really consider the conversation to be closed. Patients and their families often learn more about their condition during the consent/assent process than they would by receiving treatment only. Patients and families can decide to stop participation even before the experimental drug is administered.

However, many patient families see the importance of participating in these experimental drugs and the benefit it may bring to not only their child, but to patients in the future.

“At Cook Children’s, we believe that all children deserve the best, evidence-based treatment strategies available to manage their illnesses and maintain good health,” Dr. Marshall said. “Cook Children’s patients have the opportunity to contribute to the health of other children through safe and ethical clinical research. We treasure the fact that clinical research is the essence of people voluntarily caring for the future of mankind.”

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