Diagnosed Families
Newly Diagnosed Families
All of our families at some point have been in your shoes on the receiving end of a TBCK diagnosis. The first thing to know is that you and your family are not alone and that you can do this.
Here are some possible resources to help you and your family get better connected:
Complete our TBCK Community Registry questions so that we can build a rich network of information to better understand the disease.
Join our TBCK Parent Facebook Group to be introduced to other families and learn from their experiences.
Researchers at Children’s Hospital of Philadelphia are working to organize a patient registry. Contact the Neurology department: tbckresearch@email.chop.edu
Contact us through our TBCK Foundation website.
Become familiar with our TBCK Information Sheet with your own clinicians and educators
Recommended Medical Monitoring
Most affected families are connected to medical intervention that leads up to genetic testing for TBCK. Scientists and medical professionals (with the help of our families) have identified the following medical evaluations that are appropriate and helpful for TBCK patients.
Sleep study (to check for sleep apnea).
Physical therapy assessment.
EEG (to check for seizures, they can be subclinical and only detected on EEG).
Cholesterol levels monitoring- if cholesterol levels are elevated, check TSH thyroid level there is sometimes been a correlation noted.
Liver levels monitoring.
Swallow study (to evaluate for possible aspiration).
Monitor thyroid levels.
