Rare disease perspectives from patients and caregivers


pharmaphorum interviews rare disease patients and caregivers


Our focus this month is on rare diseases and patients, and so on the run up to rare disease day, we asked several rare disease patients and caregivers to share their experiences with us.


We spoke with several rare disease patients and caregivers and asked them to share their personal experiences with us.


They share what it felt like when they first received the rare disease diagnosis. They also discuss the biggest obstacle to living their lives with their rare condition and what they have learnt through their experiences, and what advice they can share with other rare disease patients and caregivers.


To listen to the full interview, please click on the play button below.




00:15 – How the patients and caregivers felt when they first received the rare disease diagnosis.

03:07 – What the biggest obstacle is to their lives with this rare disease.

05:54 – What they have learnt and what advice they can offer to other rare disease patients and caregivers.

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About the interviewees:


About Tony Heffernan


Tony set up the charity Bee for Battens after his daughter passed away from the disease in 2011. Tony’s son Liam has subsequently been diagnosed with Batten disease.


Batten Disease is a rare neuro-degenerative condition that affects babies, young children and juveniles. It is always fatal.


The charity is growing and branching out into the general area of rare disease.


You can view their moving YouTube Battens video here or follow Bee for Battens on Twitter or facebook.


About Marianne Vennitti


In July 2010, Marianne Vennitti was diagnosed with Mixed Cryoglobulinemia (MC), a type of vasculitis that is also an autoimmune disease. Because the disease is rare and poorly researched she was at a loss to find materials to educate her. She viewed the void of information as a challenge and dove into the web and social media in an attempt to understand her rare illness.


The drive to support and learn drove Marianne to volunteer and assist in the Rare Disease Education and Awareness Day February 29, 2012 promoting especially for CVO Facebook support group which was her first venture in advocacy.


She can be followed on Twitter here.


About Ilana Jacqueline


Ilana Jacqueline’s blog www.letsfeelbetter.com offers a lot of tips and advice on how to deal with everyday life with a rare disease.


About Carri Levy


Carri Levy is Ilana Jacqueline’s mother. Carri is the Senior Associate Producer for The Balancing Act. As a mother of a child with an undiagnosed rare disease, she knows firsthand the heartache of searching for an answer.


About Heather Earley


Heather is the mother of an almost ten-year old son with a rare disease – Russel-Silver syndrome. He was diagnosed at nine months. She is a supporter and advocate for rare disease - specifically Russell-Silver Syndrome. She is President of the Goochland Educational Foundation, Inc., active member of the Global Genes Project, as well as Chair two health advisory boards in Virginia. In addition, she manages a support and educational company for those who are either affected with Russell-Silver Syndrome and SGA (small for gestational age) or who wish for referrals and / or access to physicians and education relating to the disease.


About Melissa Hogan


Melissa Hogan is an advocate for rare disease diagnosis, treatment, research, and patient/family support. Her son Case was diagnosed at two years old with Hunter Syndrome, a rare genetic disease that normally causes progressive mental and physical effects with a dramatically shortened life span. After his diagnosis, Melissa's experience as an attorney and management consultant took a new turn as she began documenting their journey through the health care and educational systems, as well as her son's participation in a groundbreaking clinical trial.


About Diane Dike


Diane was diagnosed with cryoglobulinemia 23 years ago. Diane Dike, Ph.D. is an award-winning speaker, singer, author, certified foster / adoption mom and humanitarian who is known for her inspirational, humorous, and joyful spirit! Dr. Diane is a radio host who is regularly featured in a wide variety of print, radio and TV syndications around the world. As founder and president of Second Chance with Saving Grace and the Cryoglobulinemia Vasculitis Organization, Diane is impacting the world for good and helping people cope with medical issues. She is Oprah’s OWN and Discover Health’s Mystery Diagnosis TV, “The Woman Whose Legs Turned Black.”


What do you think it’s like to live with a rare disease?

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28 February, 2013