Woman suffering from Pompe disease

Living with Pompe Disease

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Recognizing International Pompe Day

Pompe disease is a genetic, progressively debilitating and often fatal neuromuscular disease that affects an estimated 1 in 40,000 people around the world1 and can occur at any age from infancy to late adulthood. Pompe disease occurs both in men and women equally.

Due to the rarity and similarity of Pompe disease to other neuromuscular conditions, significant delays in diagnosis can occur.2 Raising awareness about the disease is key, which is why the International Pompe Association (IPA)1, with the support of the global Pompe community, launched International Pompe Day in 2014. The day, marked on April 15, aims to make a difference in the lives of people like Tiffany who was just 13 when she was diagnosed with Pompe disease. Despite the limits the disease puts on her life, Tiffany remains determined to pursue a career in acting.

Caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA) that results in the buildup of glycogen in the muscles’ cells, Pompe disease is classed in two groups, late-onset or infantile-onset. Patients with late-onset Pompe disease typically present symptoms any time after the first year of life to late adulthood and rarely manifest cardiac problems. The hallmark symptom of late-onset Pompe disease is skeletal muscle weakness, which often leads to walking disability and reduced respiratory function. Patients often require wheelchairs to assist with mobility and may require mechanical ventilation to help with breathing.

For infantile-onset Pompe disease, symptoms begin within a few months of birth and there is impact to the heart in addition to skeletal muscle weakness. Other symptoms include difficulties breathing, frequent chest infections, problems feeding that result in failure to gain weight as expected, and failure to meet certain developmental milestones.

Disease Progression and Diagnosis

The progression of the disease varies widely. Untreated infantile-onset Pompe disease remains rapidly fatal, despite supportive and palliative care.3 Left untreated, late-onset Pompe Disease is relentlessly progressive – patient mortality is accelerated mainly by progressive loss of muscle function preceding respiratory failure.4

Newborn screening for Pompe disease can readily identify patients and early diagnosis is crucial, especially in the most severe classic infantile form of the disease. Without treatment, these children often die before two years of age.4, 5 Testing for Pompe Disease starts with a rapid and reliable blood test.6

“We are committed to supporting the Pompe community and patients like Tiffany who aren’t letting their disease stop them from pursuing their dreams. On International Pompe Day and every day we are proud to tell their stories and continue to raise awareness of this progressive disorder that can be challenging to diagnose,” said Sébastien Martel, Global Head of Rare Diseases, Sanofi.

Through the eyes of a patient

If I stop fighting for working in the movie business, it’s like admitting that my disease has won, and I’m not prepared to do that right now.
Tiffany (Belgium) who suffers from Pompe disease

Watch Tiffany’s testimonial

References

  1. International Pompe Association, http://www.worldpompe.org/index.php/international-pompe-day. Accessed April 2018.
  2. van Capelle C. I. et al, Orphanet J Rare Dis. Childhood Pompe disease: clinical spectrum and genotype in 31 patients. May 2016; 11: 65.
  3. Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, Bauer MS, et al: Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatric Res 2009, 66:329–335.
  4. American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease.
    Muscle Nerve. 2009;40(1):149-160.
  5. Evidence Report: Newborn Screening for Pompe Disease. 2013 Available at:
    https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/rusp/previous-nominations/pompe-external-evidence-review-report-2013.pdf. Accessed April 2018.
  6. Sanofi Genzyme Data on File_Pompe Ped LOPD_Brochure_2014 3:3