Lee S. Ciciarelli

Timothy Syndrome (LQTS 8) became a part of our life on April 25, 2011. Our son (12 months old at the time) was under anesthesia for bi-lateral hand surgery to separate his syndactyly (webbed fingers) that morning when the anesthesiologist noticed a slight arrhythmia in Lee's heart rate. A pediatric cardiologist was brought in and decided to run an ECG, thank goodness for that decision or we may have been a story on the Healing Wall instead of the Living and Thriving Wall.

Lee was born on April 5, 2010, 7 weeks early due to pre-eclampsia and IUGR on my end. For the first year of his life, he lived symptom free from LQTS. Lee had been diagnosed as "failure-to-thrive" but we never knew why... we spent a lot of time visiting different pediatric specialists, but never the cardiac team. As it turned out LQTS 8 is the cause for his issues; from severe vomiting issues to speech delays, gross motor delays. The type of LQTS that Lee has been diagnosed with is one of the rarest and most unknown mutations. LQTS 8 / Timothy Syndrome affects the calcium channel which in return affects every organ of the body. We have been fortunate enough to visit the right doctors who decided that an ICD was a necessity for Lee to avoid a sudden arrhythmia death event. That surgery took place at the Mayo Clinic in September 2011. Lee has recovered from that surgery well and I'm sure he doesn't even know that he has a palm sized device in his abdomen that could save his life one day if needed. We are so thankful for the SADS Foundation who have been with us through every step of Lee's diagnosis. We look forward to continuing to work with them to help spread the word about Timothy Syndrome and LongQT!