A new book is being released on March 21st, 2017 by New York Times bestselling author, Gina Kolata.
The book, “Mercies in Disguise: A Story of Hope. A Family’s Genetic Destiny, and The Science That Rescued Them” tells the story of CJDF Board Member Amanda Baxley Kalinsky and her family, the path to diagnosing the disease (GSS) that affects multiple family members, and how Amanda changed the future of prion disease in her family.
You can purchase this book through Amazon Smile using this link: Amazon Smile CJD Foundation Donation. Amazon will donate 0.5% of the book price to Creutzfeldt-Jacob Disease Foundation Inc.
Turin, 15 December 2015
Humanity and participation that Roberto has always put into relationships with people and family members, who called him to speak about their difficult situations, made him a family person, a support and a comfort. He has always been an active person, cheerful, helpful, optimistic, and to speak about him in the past now seems impossible.
For him we will keep the smile, the great vitality and enormous availability.
The AIEnP will remember forever the tenacity and determination with which he helped give birth to the Association: we hope to have learned from him and continue our project with the same enthusiasm he showed.
Dear Roberto, wherever you are, we remember you with great affection and gratitude.
The A.I. En P. is an association founded by a group of people who lived through the experience of a family member suffering from a prion disease and have become aware of the need to address the problem in all appropriate locations and have merged and formed the A. I. En P.
Our main aim is the promotion of scientific research on prion diseases. We aim to provide a viable interface for family members of those affected by prion diseases towards competent institutions
MADRID, 12 (EUROPA PRESS)
The Spanish Association of the disease of Creutzfeldt-Jakob (CJD) has organized this Saturday the I meeting of families affected by prion diseases, a meeting first in Europe, in the Hotel Novotel Madrid Puente de la Paz, to help the families of the patients, promote unity among them, inform those affected and give visibility to this medical condition.
“This meeting, which has been a huge effort, is organized altruistically to help families. “It is important to give visibility to this type of rare diseases, since one or two people of every million population suffers”, explained the head of the laboratory of Proteomics of CIC BioGUNE and creator of the Association, doctor Joaquín Castilla, in an interview with Reuters. About 70 cases of prion diseases are diagnosed per year in Spain.
During the event several lectures and presentations are held to share the personal experiences of the families concerned. It also boasts the presence of leading experts in the study and research of prion diseases, as the own Castile or neurologist Adolfo López de Munain.
“We want to help families informing them about such diseases, explaining the palliative treatments that are conducted with talks. “In addition, we wanted to share experiences and information on prion diseases, providing among all new ideas to improve the situation”, said Castilla.
Prion or encelopatias spongiform diseases are life-threatening ailments for which there is no cure or effective treatment. Considered group of Graves disease, these include Creutzfeldt-Jakob disease, the Fatal familial insomnia or Gerstmann-Straussker-Scheunjer syndrome.
They can be inherited or genetic diseases. In the case of hereditary, if one parent has a dominant gene there is a chance of 50 percent of newborns suffering from a prion disease, as explained by the expert.
TOGETHER WITH ISABEL GEMIO FOUNDATION
Type neurodegenerative, progresses very quickly, “with a six-month median survival,” Although some cases may be 3 months or 2 years, it has pointed out Castilla. It usually affects individuals around age 60, although in the case of the hereditary pueden dar from age 30 to age 60-70. There are also exceptions, as the case of a 12 year old Spanish girl, to which four years ago was detected of Creutzfeldt-Jakob disease and became the youngest case worldwide.
In addition to meeting this Saturday, the Spanish Association of the disease of Creutzfeldt-Jakob (CJD) tomorrow will be with Isabel Gemio Foundation, which is holding a charity weekend to raise money to investigate and give visibility to rare diseases.
To bring the best review of Prion 2015 in Colorado last month, Deana Simpson and I, on behalf of the CJD International Support Alliance, asked Sonia Vallabh and Eric Minikel to share their blog with you all.
Personally affected by prion disease Sonia and Eric have become prion researchers and their passion, dedication and hard work towards finding a cure provides a lot of hope for other families.
The CJD International Support Alliance would like to welcome 4 new members to our Friends and Advisory Group:
- Professor Andrew Hill, Principal Research Fellow, University of Melbourne,
- Associate Professor Michael Geschwind, Memory and Aging Center, UCSF, San Francisco,
- Dr Kevin Keough, Executive Director, Alberta Prion Research Institute,
- Associate Professor Gianluigi Zanusso, Neurology and Movement Department, University of Verona, Italy.
It is with great pleasure that I announce the appointment of Deana Simpson to join me as co-chair of the CJD International Support Alliance (CJDISA).
Deana is the representative for ‘CJD Insight’ which like the CJDSGN and the CJD Foundation USA, is a founding member organization of the CJD International Support Alliance which began in 2006. The CJDISA now consists of 11 member organizations covering 10 countries and Deana and I are both keen to encourage and support the formation of more networks/foundations so that CJD families are assisted and supported globally.
The CJDISA also has a Friends and Advisory Group (F & A group) that is made up of 31 of the worlds most renowned prion disease experts, researchers and professionals. We are currently in the process of inviting 4 more experts to join this group. Members of this group have all shown enormous commitment by sharing their vast knowledge of prion disease and sharing information on current research. This assists us to provide CJD family members and people at risk with up to date and accurate information.
The CJDISA has been invited since 2007 to bring the faces of people personally affected to the International Prion conferences and we hope you will continue to support us in doing this in the future. Sharing of personal stories is something that touches the hearts of the researchers and experts and brings a true understanding of the importance of their work to find a treatment or cure for this devastating disease.I are both keen to encourage and support the formation of more networks/foundations so that CJD families are assisted and supported globally .
Deana shares her personal story:
“My family has the genetic form of CJD. We have lost 13 family members spanning 5 generations. After the loss of my mom in 1998 I felt I needed to do something so that other families did not have to feel as alone as we did. I am a nurse so I know how to navigate the healthcare system in the US but we had many challenges. I did not want that to happen to others – if I could help even one person it was worth it. I have become an international speaker on CJD, educating many types of healthcare professionals about CJD, caring for patients and families effected by CJD, infection prevention and other topics. I support many families both during and after their interaction with CJD. I am a board member of the CJD Foundation in the US and a member of the CJD International Support Alliance.”