Contributors
Amy Clugston
Amy Clugston is a mother of three children. Lorna, her oldest child was born with a congenital differences and has gained many signs and symptoms over the years. After 12 years her signs and symptoms still don’t fit into any known diagnostic label. This causes her to fall in the category of having a syndrome without a name (swan). Being in this situation inspired Amy to start a nonprofit organization, Syndromes Without A Name USA. For more information, visit SWAN at www.undiagnosed-usa.org.
Chris Hempel
Chris Hempel is the mother to 5 year old identical twin girls, Addi and Cassi, who were diagnosed in October 2007 with Niemann Pick disease Type C, a rare and fatal cholesterol metabolism disorder which is often referred to as the “childhood Alzheimer’s.” Before becoming a full-time Mom and self described “advocist” (parent advocate + medical activist), Chris had a successful career in public relations working for Internet companies including Netscape and co-founding Spark Public Relations, one of the leading hi-tech PR agencies in the country.
Vivien Keil
Dr. Keil received her Ph.D. in Clinical Psychology from the University of California, San Diego. During her graduate training and work at Rady Children’s Hospital of San Diego, she specialized in the area of child psychology, with particular focus on evidence-based treatment approaches for children and adolescents with emotional and behavioral difficulties. She completed her clinical internship at the Children’s Hospital of Orange County (CHOC), where she received subspecialty trainng in pediatric health psychology and neuropsychology. While at CHOC, Dr. Keil gained extensive experience providing therapeutic services for children with pediatric illnesses, supporting families adjusting to complex medical diagnoses, and providing consultation and liaison services to the multi-disciplinary medical teams. Dr. Keil completed her post-doctoral fellowship in clinical child psychology at the UCLA Semel Institute for Neuroscience and Human Behavior. She received her undergraduate degree from Brown University with a major in Cognitive Neuroscience.
Dr. Keil currently works as a Clinical Psychologist at The Neurobehavioral Clinic and Counseling Center in Orange County, CA, specializing in pediatric neuropsychology. Dr. Keil is passionate about providing supportive and therapeutic services for children and families adjusting to pediatric illnesses. She believes in a holistic treatment approach that considers not only the individual child, but also the family and extended network that participates in the life of a child. Given the profound impact of having a child with a rare disease, Dr. Keil believes that it is absolutely imperative that there are adequate support services for the siblings, parents, and other significant figures in the child’s life.
Carrie Ostrea
Carrie Ostrea is the mother of three children, including baby Hannah, who was recently diagnosed with neuronopathic Gaucher’s Disease, an incredibly rare and fatal genetic metabolic disease. Carrie is also a published book author and is an accomplished freelance writer. She currently lives in The Woodlands, Texas. For more information on her personal fight against neuronopathic Gaucher’s Disease, please visit www.littlemisshannah.com.
Catherine Calhoun
Catherine lives in Saint Francisville, Louisiana. She’s mom to Ella and Billy (both in elementary school). Billy has a rare condition and a working dog, Picasso, from Canine Companions for Independence (you might see Picasso’s photo posted on the blog from time to time, he is very agreeable to posing for the camera and doing neat tricks). Catherine volunteers for the MAGIC Foundation, Fibrous Dysplasia Foundation, and Children’s Rare Disease Network. You can find her on twitter as @supercatcalhoun or reach her by email at catherinec AT rareproject DOT org. {Catherine’s opinions are her own.}
Karen Owens
Karen Owens lives in Philadelphia, Pa with her husband Adam and 5 year old daughter Madison. Karen and Adam lost their little boy Gavin at age 3 1/2 after an intense life long battle with Mitochondrial Disease.
Karen is learning to redefine normal after the death of her son, using her love of design and photography to reach out to other families dealing chronic/terminal illness or disability.
She is cofounder of “Chronically Cool Families” a parent to parent support group for families dealing chronic illness and disability. CCF is currently based out of The A.I. DuPont Children’s Hospital in Wilmington, De but Karen hopes that this type of group would one day be available to families across the country.
The Owens Family journey through life, death and finding life again can be found at www.gavinowens.com.
Debbie Vaughn
Debbie lives near Atlanta, Georgia with her husband and two kids – a twelve year old son and an eight year old daughter. In 1998, she lost her first husband to a rare disease called Vascular Ehlers-Danlos syndrome (VEDS) when he was only 27. At the time her husband died, her son was just seven weeks old. Two weeks later he was also diagnosed with VEDS; a reality that even now she struggles to come to grips with.
Debbie does as much as she can to raise awareness, education, and funding by volunteering with Ehlers-Danlos Network C.A.R.E.S., Inc. and by writing a blog about life with this disease called “Coming Unglued“.
She writes that “the only way she manages to hang on to any scrap of sanity at all is through connecting with other families going through the same thing -whether it is VEDS or any other rare disease.”
Howard Liebers
Howard began MarbleRoad as a blog in April 2009 in support of his three main interests: rare disease issues, community health, and national service & volunteerism. After connecting with several families that had been impacted by a rare disease diagnosis (or an undiagnosed disorder), he realized there was much more he could offer and has since taken MarbleRoad in new directions.
Howard also currently works for the DC Primary Care Association as Senior Policy Coordinator. He works with the CEO and Chief of Policy & Programs on community health center issues in the District of Columbia, including implementation of Federal health reform throughout the District. Previously, Howard served two terms of service in AmeriCorps with the Community HealthCorps program of the National Association of Community Health Centers (NACHC). He has also worked on policy, grants administration and communications for NACHC as their Senior Program Officer for Policy and Innovation.
Howard earned a Master of Public Health degree in Health Policy and Management from New York Medical College in 2007.
You can find him on Twitter as @MarbleRoad, reach him by email at howard @ marbleroad DOT org, or visit his blog.
Geeta Nayyar
As Principal Medical Officer of Vangent, Dr. Nayyar applies her expertise in clinical medicine, health policy, medical communications and public health to her role of directing innovative health information management and technology solutions for Vangent’s health care customers. Dr. Nayyar works with government agencies, states, hospitals and other health organizations to tackle some of the most challenging patient and healthcare delivery issues today.
Dr. Nayyar is a member of Vangent’s Health Strategy and Innovation Group, which helps Vangent’s customers to leverage the power of health care information technology and innovation to improve the quality and cost-effectiveness of healthcare for individuals and populations. Dr. Nayyar provides particular expertise in helping clinicians adopt and utilize information technology in ways that improve rather than detract from patient-provider encounters.
Prior to joining Vangent, Dr. Nayyar held the position of Chief Medical Officer, North America, for APCO Worldwide Inc., where she was responsible for providing strategic counsel concerning alliance development and health care issue management and advised organizations on health policy issues in the private and nonprofit sectors.
In addition to her role at Vangent, Dr. Nayyar continues to teach and practice medicine in her position as an Assistant Clinical Professor of Medicine in the department of Rheumatology at the George Washington University.
She is also an accomplished author and speaker on topics regarding medical care, health care reform and health policy. She has appeared on ABC, has been quoted by The Washington Post, and is an expert panel provider for the Agency for Healthcare Quality and Research.
Dr. Nayyar holds a Doctor of Medicine from the Miller School of Medicine at the University of Miami where she attended the Honors Program in Medicine, a six-year accelerated medical BS/MD program, and completed her Internal Medicine residency and Rheumatology fellowship at George Washington University. She will complete a Masters of Business Administration degree from George Washington University in 2010.
Heather Earley
Heather is a mother of three boys. Ian, her youngest child was diagnosed at 9 months with Russell-Silver Syndrome (RSS) – a rare undefined genetic form of primordial dwarfism which affects approximately 1/75,000-1/100,000 births annually. After a difficult path to diagnosis and lack of physician knowledge about the disease itself, Heather was inspired to create an organization to support RSS families (Russell-silversupport.org) as well as become an advocate and medical activist for rare disease. Heather is a published writer and is currently working on a book for special needs families. In addition, as an active member in her community, Heather acts as an advocate for children’s health and well-being by serving as Chairman for both the School Health Advisory Board and the Chickahonimy Health Advisory Boards in Virginia.
Lucilia Caramelo
Lucilia joined CheckOrphan in 2009. As a New Media Project Manager, she produces information and news about rare diseases for dissemination in social media outlets. In addition, Lucilia is the content curator of CheckOprhan and Wissen Heilt! (RDD Switzerland). She is also involved in the local organization of the Rare Disease Day event in Switzerland. Lucilia holds a BsC degree in Applied and Vegetal Biology by University of Lisbon, and a PhD in Biology by the Madrid Complutense/Spanish Research Council. She was born in Portugal but did most of her studies in Spain. Lucilia has lived in Switzerland since 2003. She speaks English, Spanish and Portuguese.
Jennifer Bertrand
Hi, my name is Jennifer Bertrand and life threw me a left hook!
Two years ago, I had the most surreal moments of my life, at least for now that is…… Within a year and a half, I had won an interior design reality show (HGTV’s Design Star, Season 3), found out I was pregnant with our first child, was told Winston had a tumor while five months pregnant, delivered Winston via an EXIT surgery, was given a new diagnosis, became a NICU mom for 7 weeks, watched our son receive a trach and mic-key button, was initiated into the world of in-home health care for 16 hours a day, experienced Winston coding on us once and my lovely English husband saving him, have had various PICU stays, and have recently become a seasoned traveler to NYC for Winston’s treatments………………… Yep, that’s our life and I have to say, I love it!!! : )
Now would I choose to do things differently, of course. But I can’t— so why not enjoy the positives, which is what I’m going to share via my podcast series.
Winston was born with a mixed Lymphatic and Venous Malformation. Doctors can give us no reason as to why it happened, its pure luck of the draw……..a lightning strike as we were told. Of course I would have preferred the lightning strike of winning the lottery but in a weird twisted way, I think we have…..won the ‘life experiences’ lottery that is.
I am married to a lovely Englishman, Chris, and we co-own our business Bertrand Designs. We both have spent years working in the field of kids and education and met at Camp Lake Hubert/Camp Lincoln in Northern Minnesota. I have a Bachelors of Arts Education (with an emphasis in Ceramics) and a Masters in Teaching & Leadership from the University of Kansas. I taught elementary art (k-5) in the Blue Valley School District in Overland Park, Kansas.
My goal is to share everything I learned the hard way so I can make someone else’s journey a little bit easier. I know time is a luxury so I promise to make my podcasts education, light hearted and make every moment you listen worth it!
So nice to meet you and thank you for wandering my way!
jen : )
Gina Gareau-Clark
Gina is mother to 5 year old identical twin girls Julia & Maya, who were born with a rare disorder called twin-to-twin transfusion syndrome, and have been diagnosed with mitochondrial encephalomyopathy & autism spectrum disorder. She is co-founder of the Georgia-based Dare To Hope Foundation, which offers services to undiagnosed, rare disease and medically complex affected children, as well as promotes global rare disease awareness. She has been a parent support & resource advocate for 4 years, founded the volunteer group F.A.N.S. of Autism Speaks of Georgia which provides local resources and support for families dealing with autism, and volunteered with the Make A Wish Foundation for the 4 years prior to her daughters’ birth. She holds the firm belief that no parent should walk alone. Find Gina, www.juliaandmayaclark.com and www.dare-to-hope.org.
Theresa Zimanske
Theresa is a wife, mother, and founder of Be the Change, a movement aimed at strengthening the patient, family and provider relationship in health care. In 1999, her son Michael was diagnosed with a rare genetic disease called Schimke Immunoosseous Dysplasia (SIOD). After a courageous battle against the disease, Michael died in 2005 at the age of 13. His life is the inspiration of Be the Change, which believes that in sharing our medical experiences, both good and bad, we give a voice to real life stories and the importance of the human experience, which is a crucial piece of the medical experience. Our message is simple, honest and hopeful just like Michael was. We need to strengthen our health care relationships in order to nurture the human experience.
You can read more about our family’s story on my blog. It is driven by the hope of what is to come and gratitude for the love that surrounds us. You can also email me at theresazim@charter.net. I consider it a humble privilege to be a contributor for the R.A.R.E. blog, and I am encouraged by the stories of other rare disease heroes.
Janis Marie
Janis Marie is a full-time mom, freelance writer and blogger. Highly regarded and respected for her ‘tell it like it is’ approach; she created and maintains a blog, Sneak Peek at Me to chronicle her son’s life and medical journey.
Along with being a featured blogger on Support for Special Needs, she has written numerous guest posts for popular special needs blogs such as Praying for Parker and the award-winning Love That Max.
Through her blog and affiliations, Janis works year-round to promote awareness and acceptance for those living with a rare disease diagnosis.
She’s also a contributing writer to several online media outlets. Her published work can be found at She Posts, 5 Minutes for Special Needs, Hopeful Parents, Kidz, Complex Child and RARE Blog (Children’s Rare Disease Network).
