Rare Impact

By Carol Dutch

“Not every doctor would go to such lengths to help a patient; thankfully, my doctor did.” Words like these captured the attention of dozens of healthcare providers and medical residents assembled at Children’s Hospital of Orange County (CHOC) and Rady Children’s Hospital-San Diego. Throughout 2015, many more physicians will experience RAREMed Forums, 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 sessions, speakers present on a wide variety of topics, such as outlining steps designed to speed accurate diagnosis and ensure timely care of people with rare disorders. Physicians are encouraged to “think, refer, integrate and challenge themselves” when diagnosing rare diseases. The program also stresses the importance of physicians giving these conditions the consideration they demand and referring promptly to specialists and centers of excellence.

The RAREMed Forums are only one example of patient advocates, medical communities and industry working together to support education and awareness of the porphyrias, a group of rare and debilitating diseases. The American Porphyria Foundation is training the next generation of physicians in the diagnosis and management of these conditions. 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. As with any family, our global rare disease community is strongest when united in a common goal. 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.

It’s my hope that programs like these will knock down some of the barriers to rare disease diagnoses for patients, reducing their suffering and helping them live fuller and healthier lives.

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 RAREMed Forums, contact Katie Mastro at katiem@globalgenes.org.


[Photo 1: For prominent placement near top of blog post] Global Genes was the catalyst for a RARE Rounds medical education session held at Children’s Hospital of Orange County (CHOC). Left to right: Carol Dutch, manager of advocacy at Recordati Rare Diseases and co-chair of the healthcare provider outreach committee at Global Genes; Raymond Y. Wang, M.D., director of multidisciplinary lysosomal storage disorder program at CHOC; and Andrea Epstein, executive director of Global Genes.

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[Photo 2: for secondary placement] Dozens of health care providers and medical residents attending the RARE Rounds session at Rady Children’s Hospital-San Diego.  

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