Monique Griffin, finding purpose in patient advocacy and education
Monique Griffin always lived an active and busy life, whether it was competing in gymnastics as a child or her demanding career, leading communication efforts for a large hotel and resort brand. This constant, on-the-go lifestyle led Monique to dismiss symptoms of Pompe disease for years as what she thought was normal fatigue.
She initially went to her doctor in her early 20’s after she began waking up with headaches. Together, Monique and her doctor compiled a list and began testing for various possible explanations for her symptoms, including environmental issues such as gas leaks at home and allergies. It was not until a follow up visit to her doctor that he noticed she had to push up on the chair armrest in order to stand up. Additional tests were ordered, and an initial diagnosis of inflammatory myopathy was made.
Monique accepted this diagnosis and her prescribed treatment plan of steroids at face value. She didn’t delve further into other options despite continuing symptoms. Over the next decade her disease progressed to the point that she needed handrail assistance to climb a flight of stairs and watched closed captioned TV as her chronic extreme pain was worsened with sound.
Monique attributed her worsening symptoms to her diagnosis of inflammatory myopathy coupled with a demanding job working 60-100 hours a week. Finally, after a fall at her house resulted in a concussion, she decided to seek additional opinions and potential treatments. After nearly a decade of progressive symptoms, a subsequent genetic test revealed that the diagnosis of inflammatory myopathy was incorrect, and, in fact, Monique’s experience was due to Pompe disease. Because Pompe disease, a lysosomal storage disorder and neuromuscular disease caused by mutations in the acid alpha-glucosidase (GAA) gene, is rare and symptoms are not always obvious, it can often be misdiagnosed.
“Getting diagnosed was a relief, because not knowing what I had was so much scarier,” said Monique, who is now successfully able to manage her disease and is no longer in constant pain. “With a correct diagnosis and treatment plan in place now, it’s a much better life.”
Monique now uses her experience as a lesson and hopeful story for other patients who might be in the same position. She has found that misdiagnoses are common for Pompe disease due to the fact that doctors simply do not know much about the disease and symptoms can mimic more common conditions and may present differently in each patient.
Understanding the disease and being able to help others with this knowledge now drives Monique in her patient advocacy work. She participates in clinical trials and has become an advocate for patients, speaking at meetings with elected officials and traveling around the country to engage medical professionals as well as individuals living with Pompe disease. From her first experience in a clinical trial, to becoming the first patient in the United States to receive a new, commercialized treatment for Pompe disease in 2010, Monique has taken advantage of her experience to help others.
“I share my story to give other patients hope while educating medical professionals to make diagnosis easier for others. It’s given me a sense of purpose,” Monique said. “Doctors need more education on this disease, especially with how it presents in adults. They must routinely offer the one-time genetic test for Pompe disease in order to diagnose in early stages.”
As a fierce patient advocate, Monique encourages patients to be their own champion and manage their own healthcare experience by coming armed to appointments with questions and research and looking into second opinions when necessary.
“There is a lot of help to be had, but you need to know where to look and shouldn’t be afraid to get that second opinion or do your own research,” said Monique. She especially sees the patient online and social media community as a tremendous asset. “For Pompe disease patients who have been diagnosed, they’ve been through it. They’ll understand your questions and concerns because many have been in that same situation.”
Monique continues to stay positive and enjoys the welcoming and supportive community of patients with Pompe disease. “I’m optimistic about the clinical research in Pompe disease underway and planned for the future. It creates hope for the Pompe community that research may advance our understanding of Pompe disease and how to best manage, treat and hopefully one day cure this inherited condition.”