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7/5/2017 Latest post:
Joelle came home from school on Thursday, April 13th and wasn’t feeling well, Friday was a good day and Saturday she had a migraine so bad we ended up taking her to the Emergency Room for some relief. Sunday she sang in church with the school choir and shortly after returning to her pew, she passed out , so we returned to the emergency room for evaluation. There they diagnosed Joelle with a syncopal (fainting) episode and recommended we follow up with her primary doctor.
We scheduled a follow up because I was concerned about the events and Joelle was due for a echocardiogram anyhow (she was born with a murmur and has an echo every two years). Joelle’s primary referred us to Gunderson Lutheran Cardiology to determine if any more echo’s were actually necessary, because the last one was unchanged from previous echo’s and her murmur appeared to be fine.
Gunderson Lutheran scheduled us to meet with a Pediatric Cardiologist and they did some EKG testing. During the EKG testing, we were suddenly greeted by a team of doctors who were reviewing the EKG - it was not normal, especially for a very physically fit 12 year old girl. More tests were scheduled on a different day including another EKG, ECHO, and Cardiac Treadmill. The cardiologist performed all the tests and they discovered Joelle has some deep grooves in her heart called Trabeculation. When this is seen, along with the abnormal EKG, they refer to this as the issue that causes sudden cardiac death in athletes. Joelle’s treadmill corrected her issue with exercise, so they had her change her diet and were planning a follow-up in 6 months - go one with life as normal.
Fast forward about two weeks… I received a random phone call from Joelle’s cardiologist who said she couldn’t stop thinking about Joelle and she wanted to do one more testing, a cardiac MRI. She also began to review my mom’s medical record, because my mother has a gene on her dad’s side of the family that causes cardiac issues. The cardiologist indicated with the findings in my mothers test combined with Joelle’s issues were very concerning and I really needed to be tested to see if Joelle might also need testing- so we scheduled a meeting with the genetic councilor.
Today, June 27th, I received the results of the MRI and they were not the results I had expected, in fact I was in shock for quite some time. Joelle’s results showed she has both left and right ventricular cardiomyopathy (her pump isn’t working properly). She has all they signs of ARVC, which is caused by the PKP2 gene my mom has. The cardiologist consulted one of her colleagues for a brief overview with a Pediatric Cardiology Specialist at Mayo Clinic in Rochester and Joelle will be referred to Mayo, as they specialize and have seen more cases of Pediatric ARVC. This is a very rare disease in kids and they have little information since most cardiac conditions are found during adulthood. My insurance denied the genetic testing for me, however they will likely approve Joelle for the genetic testing and we will proceed that route.
What does this mean? From the quick glance the Mayo cardiologist had at the MRI, he felt Joelle’s final destination will eventually be a heart transplant. We may be able to work on some sort of other option for the time being, such as an On Demand device like a pacemaker/defibrillator. We will meet with the specialist and begin preparations to get Joelle on a list, as her condition is serious, but not life threatening at this point (that could change very quickly if she over does it, due to the enlarged areas of her heart.)
Joelle is in good spirits, I think we are coming out of the shock state. She will be traveling to North Carolina to spend some time over the 4th with Theresa and family, then returning home to continue skating, enjoying being a kid, and take time out for a few medical appointments. She is looking forward to being a 7th grader this fall and learning more about her heart.