By Henry Rosenberg, MD
The year 2015 was another busy, productive year for MHAUS. Dianne Daugherty, our executive director, and her staff deserve special compliments for ensuring that MHAUS runs smoothly and meets the goals and objectives set forth by the Board of Directors.
New programs are introduced on a regular basis while the basic work of the organization continues at a high level. Such programs include the very successful MH “Prep Check,” the MH Hotline, publication of The Communicator, and e-newsletter Hot Topics. In addition, there is ever increasing activity on social media such as Facebook and Twitter. Much time is spent in responding to requests for information from patients and clinicians, ensuring that material on the MHAUS website is up to date and accessible, while introducing new programs such as the “Ask the Expert” section of the website and the guide to testing for MH susceptibility.
Not to be overlooked is the ongoing effort to raise money to ensure continued operation of the organization. We are particularly indebted to the many members of MHAUS, the medical and nursing community who contribute to MHAUS, as well as hundreds of other donors. We were particularly happy to have raised over $15,000 by the year-end appeal. For a not-for-profit organization, fundraising for continued operations is a major challenge. We thank all those who have donated and continue to donate.
I would particularly like to acknowledge the efforts of the Keller family. The family initiated the annual Geoffrey Keller Memorial Swim in June 2014 in Marshall, Illinois, to raise funds for MHAUS and MH awareness. (Visit the MHAUS website for details on registering for these summer’s swim). Geoffrey’s family have been strong supporters of MHAUS and are convinced that MH education and awareness is crucial to preventing death and disability secondary to MH. Curt and Kathy Keller, parents of Geoff, are Board members of MHAUS.
Education on a clinical level is a main focus of MHAUS and to achieve this goal our MH experts speak at meetings all over the world. For instance, the Washington State Council of Perioperative Nurses heard an MH presentation from Dr. Greg Allen, and an MH Prep Check, designed to assess the MH preparedness of a facility and their staff, was held in several states, including Alaska. The Wisconsin Society of PeriAnesthesia Nurses invited Dr. Cynthia Wong to speak about MH at their meeting; after the meeting, they were confident that they knew more about their personal role in treating a patient when MH might unexpectedly appear. Dr. Sheila Riazi brought MH education to Canada by speaking on the topic at the Operating Room Nurses Association of Canada meeting and also at a large facility staff meeting in Sunnybrook. Both were very impressed with the quality of her presentation. Many other members of the MH Hotline and Professional Advisory Committee present lectures on MH at their own facilities as well as local anesthesia societies.
As the MHAUS website remains the “entry door” for MHAUS to many who are seeking answers, we felt we should make it as open as possible. Thus, we promoted the “Ask the Expert” capability on the website. Questions posted on the site by patients as well as professionals are answered within 48 hours if at all possible. This step alone has been a resounding success. The unselfish efforts of our MH experts who have taken their time to respond have been simply fabulous! The clinically-oriented questions were answered well over 500 times and those submitted by patients with concerns about their lives (or that of their loved ones) found answers through the Patient Liaison committee chairperson over 150 times! We continue to be there for those who need us. The data from the “ask the experts” site will be compiled into a searchable “knowledge bank “in the near future.
On an international level, several of MHAUS’ experts presented abstracts at the annual meeting of the European MH Group in Lille, France. The meeting summary is posted on the MHAUS web site under “Blogs” for June 2015.
At that meeting and at the annual meeting of the American Society of Anesthesiologists, Dr. Ron Litman, director of the MHAUS Hotline, presented a summary of Hotline calls received over a 16-month period. Because information from the recorded calls are now extracted and entered into a searchable database, Dr. Litman was able to analyze the elements of the 700-Hotline calls handled by our volunteer experts in more detail than previously. Many unusual calls to the Hotline are discussed among our experts in a closed, members-only discussion group so that all can learn from the experience of other Hotline consultants. The information is also discussed at our periodic meetings of the Hotline consultants, often resulting in recommendations for management of complex MH cases. For example, one significant lesson that we learned from the many calls to the Hotline is that dantrolene appears to be effective in lowering very elevated body temperature from many different causes, e.g., drugs other than anesthetics, infections and, maybe, solely exercise-induced heat stroke.
Speaking of exercise-induced heat stroke and muscle breakdown, in September 2015 the Korey Stringer Institute at the University of Connecticut hosted a workshop sponsored by the National Athletic Trainer’s Association to explore the relationship between MH and exercise-induced heat stroke. The Institute, headed by Dr. Doug Casa, has been examining the underlying causes and consequences of heat stroke for many years. A summary of that meeting was published in the previous issue of The Communicator and will be published in the Journal of the National Athletic Trainer’s Association.
Exertional heat stroke is a significant problem for the military and leads to several deaths in young athletes each year, despite a well-defined regimen for treatment of the disorder based primarily on rapid cooling with surface ice and tepid water. Meanwhile, recent research suggests that the newest formulation of dantrolene, Ryanodex®, not only is effective in treating anesthesia-induced MH in animals and humans but also reverses signs of MH precipitated by exercise and/or heat in MH susceptible animals. A recent study of heat stroke in humans, featured on our blog in January 2016, suggests that Ryanodex® can also mitigate the physiologic effects of heat stroke in humans. Perhaps Ryanodex® will be a useful adjunct in the treatment of exertional heat stroke. In response to these studies, MHAUS is planning to reach out to athletic trainers and emergency medicine physicians to apprise them of the features of MH and the recommended diagnostic tests and treatment. This will be a major effort since there are over 60,000 certified athletic trainers in the U.S. and 40-45,000 emergency medicine physicians and tens of thousands of emergency medicine technicians.
One of the major advances in our understanding of the prevalence and incidence of MH derives from the growth in knowledge of the molecular genetic changes that underlie MH. There are DNA variants in three genes that are predictive of susceptibility to MH. However, changes in the DNA of one, the Ryanodine Receptor type 1, is most often associated with MH susceptibility. Testing for mutations in this gene is often used to diagnose MH susceptibility. However, genetic testing must be used selectively. At times it is more important to use the muscle biopsy contracture test to assess susceptibility to MH. To help navigate the difficult decisions in deciding which test is appropriate for a particular patient, MHAUS developed a guide or “roadmap” for testing. This helpful guide may be found on the MHAUS website under the Patient tab. It has now become standard practice to include genetic testing for mutations in the Ryanodine Receptor gene in cases of unexplained hyperthermia and muscle breakdown.
Another effort involving members of the MHAUS Professional Advisory Committee in conjunction with scientists from the National Human Genome Research Institute is a detailed examination of the several hundred changes in the DNA of the Ryanodine Receptor to determine which are likely to be predictive of MH susceptibility. Such research will, it is hoped, lead in time to the introduction of a DNA-based test rather than the muscle biopsy contracture test. Part of this effort entails not only analysis of the genetic changes but also relating them to the “phenotype” of the patient. That is, the clinical manifestation of genetic changes. For this effort, data contained in the North American MH Registry of MHAUS is especially valuable. The Registry has detailed clinical records on over 2,000 MH episodes and is now collecting not only clinical histories but also genetic information with proper patient consent. I would like to recognize, in particular, Dr. Barbara Brandom, director of the Registry, and her staff. Not only do they ensure that the data in the Registry are accurate and properly protected, they also report on findings drawn from the data in the Registry in medical and nursing journals.
Finally, I would like to mention one of the highlights of 2015 that was especially important for me personally. I was honored to receive the Distinguished Service Award of the American Society of Anesthesiologists at the annual meeting of the society in October. The award recognized my contributions related to raising awareness about MH and promoting educational programs for clinicians and patients. In truth, my award is mainly a result of the work of the MH experts who volunteer their time and expertise on behalf of MHAUS as well as the hard work of the MHAUS staff and the Board of Directors.
In conclusion, this is a very exciting and dynamic era in the history of MH and MHAUS. I have only touched on a few of the main themes and accomplishments of the past year. I anticipate many more advances in knowledge and improvements in patient care in the coming years, which will lead to better care of MH patients and their families.
MHAUS has come a long way over the past 35 years. Care of the MH susceptible patient and their family members has improved significantly; however, deaths and disability still do occur from MH and from syndromes that are related to MH. Your continued support is critical for us to continue our major educational and scientific advances in the future.
Thank you in advance.