Rare Disorder Roadmap to Testing Options and Answers

Although malignant hyperthermia (MH) is an uncommon disorder, when it happens to you or your family member, it becomes a frequent and common topic of concern and animated conversation.

Thus, when one of our family members requested the Malignant Hyperthermia Association of the United States (MHAUS) develop a resource to begin to answer questions that regularly rose to the forefront when a family is given an unexpected diagnosis of malignant hyperthermia. As this diagnosis could come from within the patient’s immediate family or their extended family members, the basic question seemed to remain the same, "I have been told I have malignant hyperthermia – now what does that mean for my life?" 

MHAUS felt this was a very important and recurring area of concern not only for the MH-susceptible individual, but also for their healthcare providers across many disciplines.  To address this need, in mid-September 2013, we gathered a group of dedicated individuals from both the healthcare professional and the patient side to work together on the project we called "MH Genetics 101".  The group contained MHAUS staff, a genetic counselor who was also an MH-susceptible individual, a parent who tragically lost his child to MH, personnel from one of the genetic testing centers and one of their genetic counselors, as well as a board member who happens to be a genetic expert and is known worldwide.  Additionally, the final document went through a number of iterations after receiving input and perspective from MHAUS Professional Advisory Council members and other MH experts.

The initial focus of the group was to:

1. Design a resource on the MHAUS website for patients to better understand what it means, in easily understood terms , when they are told they have MH, and include pertinent questions and answers.
2. Assure the resource offers MH-susceptible individuals a path to navigate through options within the medical community and avoid or circumvent possible barriers.
3. Model the resource to be easily shared with all MH family members and their personal healthcare professionals so they can use it to openly communicate surgical options for optimal patient safety.
4. Use internal and external insight to share a "suggested path" for patients to consider when deciding what, if any, testing options they may want to consider, and encourage them to consider joining the North American MH Registry of MHAUS , located in Pittsburgh, PA.
5. Offer other resources that are topic specific, like insurance coverage.

After nearly a full year of work by this focused, committed group on this particular project, the final resource document has very recently been placed on the MHAUS website for ease of access and can be downloaded by all visitors.  On the Patient’s Pages, look for the box entitled "I have MH – Now What?" The Roadmap is there!  The url for the page is http://www.mhaus.org/patients-and-families/now-what. You will find this resource offers MH clinical information as well as other resources to bolster understanding in areas such as genetic counseling, personal insurance coverage for testing, types of testing, and samples of the necessary forms that will be needed for testing, i.e., Letter of Medical Necessity required by insurance companies from the prescribing healthcare professional before they decide coverage and the level of coverage for the chosen test.

It is hoped the resource will also be used by healthcare professionals as a communication tool to share with their patients when explaining their diagnosis of malignant hyperthermia.  After reviewing the Roadmap , we request your feedback as to whether patients feel this has been helpful to their understanding of the options open to them and serves as a conduit to other specific resources that can more fully answer their questions that are outside our specific clinical expertise and from healthcare professionals as to whether the resource is helpful to their open communication with their patient(s).  

Check it out!  You will be glad you did.