Titin Myopathy

All about Titin Protein, Titin Myopathy, Titinopathy, Titinopathies

Titin Myopathy - All about Titin Protein, Titin Myopathy, Titinopathy, Titinopathies

COVID-19 Resources

Greetings families affected by titin related muscle and heart disorders.  Our world is now facing the global health challenge of the Coronavirus pandemic (COVID-19).  Please keep in mind that there are special considerations for people with titin health disorders, including carriers.  Please see details below.

  1. People with neuromuscular disease are at risk for complications from COVID-19.  See here for more information from the CDC.
  2. It is VERY IMPORTANT to try to avoid getting COVID-19.  See here for tips on how to protect yourself and others from the CDC.
  3. CHEST Foundation Care Recommendations for Home‑Based Ventilation Patients can be found here.
  4. The World Muscle Society position and advice (look for updates as well) found here.
  5. Preparedness checklist from the Speak Foundation is found here.
  6. Advocacy letter for affected individuals regarding your civil rights can be found here.
  7. Some medications used to treat COVID-19 have negative side effects on the heart.Position statement from Elizabeth McNally MD PhD, Northwestern University”I think there is very little known about the potential cardiac complications of using hydroxychloroquine or chloroquine. I would not encourage people with TTN disease to use this to prevent infection, since there is not enough known yet. Some of the early efficacy was in the setting of using many other drugs including azithromycin, so it’s very hard to know.

    The most severe, lethal cases of COVID-19 do seem to have heart damage, and so those with TTN should work hard to avoid infection. Stay sequestered and avoid contacts, especially avoid younger people who may not be doing such a great job at avoiding contacts since some of these people are asymptomatic/minimally symptomatic carriers.

    Be well!”

    Position statement from Prof. Diane Fatkin, Victor Chang Cardiac Research Institute

    “First, people who have cardiomyopathies have an increased risk of complications of COVID-19. Family members who have DCM need to self-isolate and take every precaution to avoid contact with COVID-19 carriers.

    Second, there have been lots of drugs proposed for COVID-19 treatment. At this stage, there are no good clinical trials to provide hard evidence for selecting one drug over another. The anti-malarial drugs (chloroquine etc) may be useful but we don’t know yet how safe they are and there is an increased risk of long QT syndrome. Hopefully the situation will be clearer in the near future. There are a number of clinical trials under way that will help sort out what is both effective and safe.

    All this is changing rapidly and we need to keep updated!”

    8. NMD-Specific COVID-19 Video Tips from Lou Saporito, BA RRT

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.

The Care of Congenital Myopathy: A Guide for Families

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 to help guide them.  This work began as a translation into 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 every step of the way 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.Care of CM family guide for email