Along the SADS highway

From fainting to diagnosis:

• Fall/winter 2013: Jayden passed out during kickboxing class, initial EKG reveals abnormalities 
• January 2014: Jayden visits the pediatric cardiology team, bolter monitor shows a need for stress test in Louisville
• September 2014: Stress test at Kosairs reveals stress related arrhythmias, rhythm specialist gives initial diagnosis of CPVT, beta blockers prescribed, repeat stress test and genetic testing ordered.
• December 2014: Genetic test results confirm diagnosis
• February 2015: repeat stress test deems unfavorable results, admitted to Kosairs for med change and heart monitor, dad and sister tested for genetic markers
• March 30, 2015: stress test showed favorable results! The meds are working to the doctor's satisfaction!
• March 2015: Dad tested positive for CPVT, Family notified and stress test ordered.
• April 13, 2015: Sister tested NEGATIVE! No worries there! Family members are in the process of being tested to determine the origin of this condition.
• May/June 2015: insurance is denying requests for an AED. Fundraising efforts are underway to offset costs in purchasing a unit for Jayden.
• June 2015: free CPR event at Aurora Ross Fire station. 
• July 2015: genetics tests scheduled for paternal grandmother and father's siblings.
• August 2015: Results are in... Paternal grandmother and both siblings tested negative. Paternal grandfather is in the process of getting tested 
• July/August 2015: fundraising efforts were successful in getting Jayden's AED! We are also able to purchase an AED for another family in need!

Welcome

Our journey is just beginning, we are well on our way learning to navigate the SADS lifestyle.

Our story begins in the fall of 2012 when our 12 year old (seemingly healthy) boy passed out while running laps at his kickboxing class. The initial EKG revealed some abnormalities and more tests were ordered. We were not prepared for the diagnosis we received after many tests, and visits with heart specialists. In the fall of 2014, it was confirmed our son has a genetic heart condition called CPVT (catecholaminergic polymorphic ventricular tachycardia).

What is CPVT?

Catecholaminergic polymorphic ventricular tachycardia or CPVT is a condition that results in ventricular rhythm problems (bidirectional and polymorphic ventricular tachycardia and ventricular fibrillation) that can cause fainting or sudden death.  Events usually occur with exercise or during stress. CPVT is caused by abnormalities in the way the heart muscle cells handle calcium.

What are the symptoms of CPVT?

• Fainting caused by ventricular tachycardia. This usually occurs during exercise or other activities that are associated with high adrenaline levels.
• Cardiac arrest if the ventricular tachycardia degenerates into ventricular fibrillation. Cardiac arrest may be the first symptom in CPVT patients.  

What tests are used to diagnose CPVT?

• CPVT is diagnosed primarily by either treadmill stress testing to provoke rhythm abnormalities, or catecholamine provocation testing
• In children too young to perform exercise testing a 24-hour Holter monitor may help with the diagnosis. (In children with CPVT, the heart muscle function and the heart structure are normal).  Note:  a resting ECG that is usually normal in CPVT patients, and insufficient as a diagnostic tool.
• Genetic Testing

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