Titin Families and Researchers are Pioneers

New genetic technologies have made recent expanded diagnosis of titin related muscle and heart disorders possible.  We are at the tip of the iceburg as far as these discoveries.  That makes our families and researchers pioneers in the age of discovery in regards to titinopathies.

Please check out this 3 minute video: 

2018 Update: The Care of Congenital Myopathy: A Guide for Families

This is a wonderful resource for families to learn more about getting the best care in a wide range of clinical areas. Click below for a PDF version of this document.

2018 Family Guide

The Care of Congenital Myopathy: A Guide for Families is a comprehensive care guide developed for families and people with congenital myopathy (CM) in response to community requests for useful information.  This work began as a translation into more easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies medical document that was published in 2012 by Wang and colleagues in the Journal of Child Neurology.  As the guide for families took shape, it was apparent that the guidebook would include much more than basic medical information, since we had terrific input from the very people living with and caring for someone with CM.  The family guide became testimony to many of the challenges, joys, concerns, and triumphs that are typical for those living a not-so-typical life.  Our sincere appreciation goes out to everyone that contributed to what we hope will be an engaging, informative manual for families and individuals with CM.

Where to get good cardiac care?

Variants in the Titin gene are known to cause some heart problems in some people.  If you are wondering where to get a good heart evaluation and treatment here is a great resource available for you.

The Children’s Cardiomyopathy Foundation has recognized medical centers with expertise in pediatric cardiomyopathy. A designated CCF-accredited center of care provides high-quality cardiac care and specialized disease management to children with cardiomyopathy.

Click below for more information as well as a list of centers:

Children’s Cardiomyopathy Foundation’s Accredited Center of Care Program 


Respiratory Management

Managing breathing is one of the most important factors to maintain overall health and longevity for people with muscle weakness.  Because titinopathies cause such a wide variety of health issues in different people, it is good for most people to get a regular evaluation of respiratory (breathing) health.

This is a link to a great video made by Dr. Reghan Foley from the National Institutes of Health.  In this video she covers a lot of critical information!  Please watch: Proactive Respiratory Care in Congenital Muscle Disease.


Vaccinate your family

The year my son got the flu he missed 63 days of school.  He was exhausted for months afterwards.  It was a very difficult time for our family and not one we’d like to go through again.  The flu can make you miss work, school or even be hospitalized. People with muscle disease are at high risk for complications from influenza.

There are 3 main actions to you can take to fight the flu and the spread of germs to others this flu season.

1. Take time to get a flu vaccine.

2. Take preventive actions to stop the spread of germs.

3. Take flu antiviral drugs if your doctor prescribes them.

Please ask family and caregivers of people with muscle disease to get vaccinated, it’s important!

The CDC recommends that patients at high risk for complications (like those with muscle disease) from influenza and patients with severe, complicated or progressive illness should be treated with antivirals as soon as possible!  This may include getting prescription over the phone.  You can learn more here: Flu Treatment Flowchart.

People with muscle disease may need special interventions to help them manage influenza. This short, 7-minute video helps explain some specific strategies to manage if you or a loved one does get the flu: 3 Tips: How to Get Through Flu Season.

Thank you for learning about the 3 main actions you can do to fight the flu this winter!

Wishing you all the best of health.