by Marsha Peterson
After my sister, SM lost her last baby at birth, she was diagnosed with Long QT Syndrome. She had been passing out for unknown reasons. None of us knew anything about it and I didn’t have any literature about it. All I knew was that it was probably genetic. I made an appointment with a cardiologist in Topeka and was declared fine. Done with it then.
In November, 1993, my very sports minded daughter, KM, collapsed at basketball practice on a Saturday morning. When I picked her up, her mouth did look a bit blue and her face was pale. The coach told me that she had to be checked out before she could come back to practice. It was Saturday so our only option was the ER. I kept asking KM if she had eaten breakfast that morning, thinking her blood sugar was probably off.
The hospital hooked KM up to an EKG. As they watched it, their eyes widened as they looked at the screen. A doctor was called. Our doctor was not on call so his partner saw her, and she was admitted. They thought there was something wrong with her heart. The next day, Sunday, another doctor was called in to check KM. He heard something fluttering with her heart. It was then that I called my sister, SM and asker for the name of what she had. It was Long QT Syndrome.
With that information, doctor #2 called an electrophysiologist that he had gone to med school with. KM was then taken by ambulance to Kansas City for doctor #3. (I was later so very grateful that the right doctors were present at the right time!) She was admitted before we got there. Once we arrived, doctor #3 met us. He had gotten our family history from my sister, who had gotten there first. He had done an EKG on KM and calculated it. She was diagnosed with LQTS. I was told that I didn’t have epilepsy and my oldest brother and mother’s deaths were probably due to untreated LQTS. KM had been started on beta blockers and was monitored closely.
It was decided that the beta blockers were not enough and a pacemaker was implanted. KM was 16 years old at the time. She was dismissed on Thanksgiving Day, 1993. Ever since, I hosted Thanksgiving because I was grateful for a correct diagnosis for KM and other family members.
Old medical records for my mom, my oldest brother and myself were retrieved from KU Med center. Old EKGs were read and calculated. It was determined that my brother, mom and myself were diagnosed with Long QT Syndrome. I had never
had epilepsy after being misdiagnosed for 23 years. I was started on beta blockers and got to wean off of Dilantin and Phenobarbital. Our new doctor #3 became our life saver. I will call him Dr. B.
Dr. B saw my brother, RA and his children to test them. RA was diagnosed and several of his children. Things just kept getting more interesting. A nurse from our home town told me about the SADS Foundation. I was grateful to get more information about LQTS and be in touch with people that knew what we were all going through. Dr. B. had sent our information to the Long QT registry in Rochester, NY. It was begun under Dr. Arthur Moss.
After a year, there was a sort of race to identify genes in DNA. I had calls from 2 different researchers, wanting blood samples from our family. My mom came from a family of 9. Large families gave researchers a greater chance of discovering a new gene. I honestly didn’t know how to handle this so I called Rochester and told them my dilemma. Boy, did they get back with me!
It was a Saturday morning when I answered a phone call with Dr. Moss on the other end of the line. Oh my goodness! He had a plan in mind. He wanted my opinion. Dr. Moss planned on flying a team to Kansas City. They would test everyone in our extended family and take two blood samples. Each researcher would receive the samples. NIH would pick up the costs. All I had to do was contact as many family members as possible and have them show up. I did what I could and just over 100 people were tested.
My Grandma E. was thought to have passed the gene to us. Since she had been married twice and was still alive, it was crucial to have her tested as well to determine if she was the carrier. Grandma E was in a nursing home. A doctor and nurse traveled there was my Aunt J. About 2 years later, we learned that Grandma E. had indeed inherited the gene for LQTS Type 2 and passed it on, unknowingly. Five of her 9 children were identified as carriers. Genetic testing found multiple family members with the gene and cleared others. Those cleared were able to relax again. Those diagnosed were treated appropriately.
We all knew now that some of those earlier deaths were absolutely due to LQTS. And some of those deceased prior to this were known to have had the gene because their children had inherited it. I celebrate the fact that no more lives were lost in our family to undiagnosed, untreated LQTS. Research had finally caught up with us!
My oldest brother, RC, had died suddenly at age 18. He was thought to have had a cerebral hemorrhage. Uncle BA had died suddenly in his early 20’s and my cousin, DH, died a few weeks after child birth. They had both been misdiagnosed as a cerebral hemorrhage as well. Genetics proved otherwise. Thank you, Dr. B., Dr. Moss, Rochester, New York and the SADS Foundation for helping our family. No more young family members dying suddenly, for no reason.
My Grandma E, she lived to the age of 102 and was never treated for LQTS. Thankfully, she never knew she had passed on this gene.
My name is Marsha Peterson and this is my LQTS story.