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CheckRare Featured Podcasts

Cyndi Frank, of the Gaucher Community Alliance explains her long diagnostic journey.

 

 

David Dale, MD at the University of Washington Medical Center in Seattle, discusses some of the challenges in diagnosing WHIM syndrome.

Individuals with WHIM syndrome have severe congenital neutropenia. In addition, because they also have profound white blood cell (WBS) deficiencies characterized as panleukopenia, WHIM syndrome is also classified as a severe combined immunodeficiency. B lymphopenia is particularly severe, and this probably accounts in part for hypogammaglobulinemia. Somepatients also have developmental defects of the cardiovascular, urogenital, and nervous systems, although only the cardiovascular defects appear to be clinically significant.

The first symptoms that appear in very young patients are recurrent bacterial infections (especially respiratory infections like sinusitis, otitis media, and pneumonia) and cellulitis. Another challenge to diagnosis is the transient normalization of white blood cells during acute infections, which is the moment when patients most commonly seek medical attention. This can lead clinicians into missing the key sign of low neutrophils. As a result, diagnosis is often delayed until other characteristics of WHIM appear, and delayed diagnosis challenges the initiation of appropriate treatment.

For more information on WHIM syndrome, visit the WHIM Syndrome Learning Center.

 

 

Heather Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, provides an overview of how to manage a person with Gaucher disease during the current COVID-19 pandemic.

Gaucher disease is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen.

Many Gaucher disease symptoms, comorbidities, and treatment options can complicate how these patients are managed during the current pandemic. In this webinar, Dr. Lau explains the:

  • Multisystemic manifestations of COVID-19
  • Impact of COVID-19 on Gaucher
  • Impact of COVID-19 on access to therapy
  • Exposure to COVID-19. What to do?
  • Ethical considerations of COVID-19 in Gaucher disease patients

To learn more about Gaucher disease and other lysosomal storage disorders, visit https://checkrare.com/gaucher-disease/ or https://www.gaucherdisease.org/

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