Organization: Recordati Rare Diseases

“Not every doctor would go to such lengths to help a patient; thankfully, my doctor did.”

These simple words captured the attention of dozens of healthcare providers and medical residents assembled at Children’s Hospital of Orange County (CHOC). Throughout 2015, many more physicians will experience RARE Rounds, a series of medical educational sessions prompted by Global Genes and hosted by academic centers and hospitals across the country.

I’m deeply grateful for the physician experts, patient advocates and industry colleagues who are bringing this idea to life. As co-chair of the healthcare provider outreach committee at Global Genes, I’m also tremendously inspired and encouraged by the dialogue at these sessions. Patients are sharing stories of courage and perseverance, and physicians are learning the nuances of diagnosing and managing rare disorders.

During the session, Dr. Jose Abdenur, chief of the division of metabolic disorders at CHOC, outlined steps designed to speed accurate diagnosis and ensure timely care of people with rare disorders. He urged physicians to “think, refer, integrate and challenge themselves” when diagnosing rare diseases. He also stressed the importance of giving these conditions the consideration they demand and referring promptly to specialists and centers of excellence.

RARE Rounds

Dozens of health care providers and medical residents attending the RARE Rounds session at CHOC.

 

There are other examples of patient advocates, medical communities and industry working to support education. The American Porphyria Foundation is training the next generation of physicians in the diagnosis and management of the porphyrias, a group of rare and debilitating diseases. Called “Protect Our Future,” this program allows younger physicians to learn from the small number of world-renowned experts in the field. I am proud that my company, Recordati Rare Diseases, supports this program as part of our commitment to the rare disease community.

These programs – and many more – show the power of banding together to overcome challenges that seemed impossible just a decade ago. When patients, families, physicians, academic centers, policy makers and industry work together, we can improve our understanding of rare diseases, advance research, and improve diagnosis.

As with any family, our global rare disease community is strongest when united in a common goal. Consider the tremendous momentum we’ve gained since the first Rare Disease Day in 2008. We have grown into an international movement determined not only to raise awareness, but also improve outcomes and ensure access to treatment.

While we are making great progress, there is much to do and no time to rest. I can hardly wait until next year to see how far our community will go!

About Carol 
With 20 years of experience working with rare disease communities, Carol Dutch manages patient advocacy programs at Recordati Rare Diseases, a biopharmaceutical company that specializes in providing high-impact therapies for high-impact rare diseases. The company is passionate about partnering with rare disease communities to help restore the lives of people affected by these disorders.

For more information on RARE Rounds, please contact Katie Mastro at katiem@globalgenes.org

 

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