Fund in Memory of Echols Family

When I was 15 years old I started passing out repeatedly. The doctors did not know why. I was referred to a large children's hospital and a wonderful doctor was able to give me the correct diagnosis of Long QT Syndrome and got me started on beta-blockers. When I was diagnosed my family was tested and we found out that my mom and maternal grandfather also have LQTS. I did pretty well on the beta-blockers and got married and had four wonderful children.

Since I knew about my LQTS I knew to watch for it in my children. I had not had genetic testing done because my LQTS was very evident but in order to get a for sure answer on my children we had the testing done. It came back positive for type 1 for my self and my two boys. The boys were started on beta-blockers. My first daughter had a negative result. We thought everything was down hill from there.

My second daughter was born and had a very long QT interval and was started on beta-blockers immediately. We decided to wait on the genetic testing for her as we were sure we knew what we were dealing with. She did well until she was eleven months old and then she passed out for the first time. She went into the hospital and had her beta-blockers increased. We eventually decided to do the full genetic test on her to see if she had a mutation in addition to the type 1. The results came back positive for type 1 and type 5. Where did that come from? We decided that at the next follow up appointment we would have my husband tested to see if it came from him. We did not make it to the next appointment however, as two weeks later my daughter with the two mutations needed an emergency pacemaker.

We got through the pacemaker and hospital stay and got the test results back for my husband about two months later. My husband was positive for type 5! What are the chances? We found this out the same time it was decided I would need to have an ICD implanted. It was decided that my first daughter needed to be tested for type 5. Surely her test results would not be positive. We got her results back two months later and she too was positive. Now everyone in my family has been diagnosed and there will be no more surprises. We are so thankful for wonderful doctors and lifesaving treatment options!