In December 2006, Susan and Kent Arnold’s six-month old daughter, Courtney was diagnosed with Abetalipoproteinemia.  In trying to learn more about this very rare genetic disorder, it quickly became apparent that there was no single “clearing house of information” on this condition.  As the Arnolds tried to sort through the scattered information available on the web, more questions surfaced than answers. 
Questions such as:

• How many people have this condition?
• Are there any standard treatment and testing protocols?
• What research is currently being conducted?
• Who are the medical experts treating patients regionally and globally?

With a strong sense that they could do something to bring organization and structure to the pursuit of globally linking patients and families, as well as the treating physicians and researchers, the Arnolds reached out to Jean Campbell at NORD for suggestions.  Through this process the Arnolds learned about the many other organizations dedicated to rare diseases which were started as grass-roots efforts by the families of those affected.  Several organizations were contacted and the information exchange began.  For more information, please see: http://www.nature.com/nrg/journal/v8/n2/pdf/nrg1991.pdf  

From the beginning, Kent and Susan also discussed their goals and plans with Courtney’s treating physicians.  Based on their interest to learn more about how to care for Courtney, Cincinnati Children’s Hospital decided to join the quest for knowledge by dedicating resources to the development of The Center for the Testing, Treatment and Clinical Research for Abetalipoproteinemia.

Dr. Jane Henney, Senior Vice President and Provost for Health Affairs at the University of Cincinnati, Dr. David Stern, Dean of the University of Cincinnati’s College of Medicine and Dr. Patrick Tso, Director of The Center for Lipid and Arteriosclerosis Studies also met with the founders of ACF to discuss their involvement and how the University of Cincinnati could provide some resources for research.  It was ironic that Dr. Patrick Tso is in Cincinnati since he is a world recognized expert on intestinal lipid transport and apolipoprotein B secretion.  His center is one of only three NIH sponsored Mouse Metabolic Phenotyping Centers in the country.  Financially backing some of Dr. Tso’s research provided a logical starting point for the research projects.  Research Projects

Susan Arnold summed up her feelings by saying, “We are enthusiastic that in fact there is something we can do to improve the quality of life for our daughter and for those affected with the condition.  We look forward to uniting with other families and professionals on this journey.  There are a number of organizations after which we can model ourselves and we believe this is the first step.”