There have been so many times in life that I have wondered why things have happened the way they do. Sickness strikes out of nowhere and flips your entire world upside down. Once you start to recover from that and all that entails, something new happens and it just seems like the cycle never ends. Especially in our lives where we have 3 boys diagnosed with Autism. Initially this was a shock and we were overwhelmed on how we could accommodate the needs of three uniquely different individuals. Once the new wore off, an action plan was created and life began to go about 110 miles per hour with therapies, more therapy, doctor appointments, more doctor appointments, tests, more tests, I mean you name it and at some point in the last 3 years we have probably done it or something close.
November 20th was a typical morning in our house. I had got our oldest off to Kindergarten and rushed home to begin our 2 hour therapy appointment with the twins. The twins were doing therapy in home and had separate individuals who worked with them. We would break for lunch and Peyton would have a 2 hour afternoon session. It was smack in the middle of our morning session when my phone rang and for some reason, I had it on me and answered. Normally I hid my phone from Peyton who would get easily distracted by electronic devices. Dr. Harris, our geneticist was on the other end of the phone and I could tell from the moment I picked up that something was wrong. I had been anticipating this phone call for months as we were awaiting genetic results to find out if our family had any genes that were linked with Autism. With three boys diagnosed, our family of all families was one they were eager to find out about. Dr. Harris proceeds to say hello, who she is and immediately jumps into “nothing genetically came back autism related but something much more serious has surfaced that deals with the heart, Peyton is showing a positive genetic result for Long QT syndrome and Dad is showing it as well.” She then gave me a brief rundown of Long QT and to be honest I don’t remember much of this conversation. I just remember, my heart racing and at the end of the conversation she had told me to get Brody and Chase and bring them down immediately to get blood work. Because Peyton was positive for the gene and he was an identical twin, we were aware of the results we would get for Chase. Brody had a 50% chance to be positive.
You see Brody and Chase were not a part of the genetic testing because they wanted the child who was most symptomatic and the parents. So Brody and Chase hadn’t been tested yet. I grabbed Chase and checked Brody out of school early and raced to Columbia to have the test performed. Then, the waiting game began. We waited for 7 weeks to receive results for Brody and Chase and during that time Peyton was referred onto a Cardiologist to be seen. Peyton does not like to be touched and he flips out at the sight of a doctors office. So two failed attempts at an EKG, they decided to sneak a 24 hour monitoring device to him to see what the results would show for this. After the 24 hours were up, we took the device back and began to wait some more. The next set of news we found out was that Chase and Brody were both positive for Long QT Syndrome and now they were being referred onto Cardiology as well.
And then, we waited some more.
February rolls around and we finally have appointments for all three boys at the same time only to be told that we need to be referred onto a doctor who deals primarily with this specific condition.
This doctor is called and Electrophysiologist.
5 months later lands us at today where we finally got some peace of mind from a doctor who not only took us serious but advocated for Brett and the type of care that he needs. We have been told by previous medical professionals that because he has a normal EKG that he is fine. He was referred onto a Cardiologist and because he had a normal EKG, they wouldn’t even see him. This is a life or death matter. Just because he has went this long with no issues doesn’t mean that he should be pushed off to the side. Brett is now being referred onto an adult Electrophysiologist who is out of St. Louis to monitor him. The thing is, just because you present yourself with a normal EKG does not discount the fact that you have the gene. Therefore, this gene can be triggered by anything. Brett needs to establish care with a doctor, get a baseline and move forward as they monitor him. I am thankful for that information today.
Brody, Chase and Peyton all had their appointments today with Dr. Dalal. She is the Electrophysiologist that the boys were referred to by a Cardiologist we were referred to after their genetic testing. She reviewed Long QT Syndrome with us, which is completely confusing but I will try to break it down as easy as I can. Long QT Syndrome is a delay in the Q & T portion of your heartbeat. If you are a patient that does present a delayed QT it can cause fainting spells or sudden cardiac arrest. A side effect of this condition can be a fast beating or racing heart.
With that being said, we had testing done on Brody and Peyton in February with the Cardiologist we saw. We never got an EKG on Chase because he wouldn’t sit still or calm down long enough to get it accomplished. Brody’s EKG in February appeared normal. Peyton had the doctor concerned and was questioning a couple things on his tests. He was not entirely comfortable advising us and even told us this at that time. He kept reassuring us that we would get better answers from Dr. Dalal.
Today, Brody was the only child who tolerated the EKG and Brett and I were not all that worried on him specifically because he had just had this done and it looked fine. We were more anxious to get some education from a doctor who specialized in this field. We were aware that just because the boys don’t have symptoms didn’t discount the condition and that it was still to be taken very serious.
And here’s where the curveball started…
Brody’s test today showed that he does have a delayed QT on his EKG. This is a different ballpark than the one we were previously in. I can’t explain it but we knew the boys all had this condition. We knew it was there. But up to this point, no one was showing any type of symptoms. So we truly felt like, maybe we were going to be the family that had this strange set of circumstances but no real worries. But I truly believe that up until today, we have just been completely and falsely advised and I think this may play part in why the delay on Brody’s EKG came as such a shock. It’s hard knowing, maybe we just had to truly face the music today after 5 months of worrying and anxiously waiting. Maybe, we’re just overloaded.
Going forward, we will have an Echocardiogram for Brody to get a view the heart and its entirety. After this, since Brody did show a delay in the QT, he will most likely start beta-blockers for routine maintenance. The twins will continue to try and get more EKG’s and we will move forward at that time for them. The three boys will see Dr. Dalal two times a year for care and they will be under the care of an Electrophysiologist for the rest of their life. We were advised all the challenges we may run into and all the outcomes that could bring. At this time we are trying to become more educated as this is a new territory for our entire family. I don’t know. I honestly don’t.
Tomorrow is another day and just like everything else, we will get through this as well. Sometimes I don’t know how but we always do.
Because of Autism, we did genetic testing. Because of genetic testing we found out this life changing information.
Autism saved our lives.