Sunday nights.

Happens every time. Mom gets on the phone. Some light goes on and your children have a question or problem that needs immediate attention. "Let me call you back."

Same with acute illness. It’s Sunday evening and you wrap up the weekend. And suddenly, your little one complains. Sometimes it is a stomach ache, easily explained by a weekend of activity and a little too much of something. Other times, it is more serious, something you cannot put your finger on, but you have the sense that this is more than you can handle.

On Sunday evening, Jen - a PPMD mom and a friend - called me. Danny was complaining of chest pain. He just celebrated his 8th birthday and in our head, should be too young to connect this with cardiac anything. But then, he has Duchenne and we have learned anything is possible. We have learned that we need to know a lot more than we do about Duchenne hearts. We have learned not to ignore the complaints of our son. While we were on the phone, I could hear Danny cry, but the cry had a little squeak to it and I felt a certain panic creeping in. It was the sound that occurs when people (adults and little ones) make when they are short of breath. We talked about the last few months, rapid progression, weight gain, going off GH and then resuming. We talked about diet, activities, fatigue, increased weakness. Jen mentioned an irregular heartbeat. If I was there, I would wish for a stethoscope or put my ear on his heart in an attempt to diagnose the rhythm. Jen and Dan left for the hospital with Danny.

In the meantime, I called our experts, Linda Cripe, Larry Markham, and Brenda Wong. Linda called immediately. Larry emailed me a bit later. We discussed the events leading up to the chest pain, discussed the last few months. And while this was later considered a ‘cardiac event’ - it was not a heart attack and not congestive heart failure - what did it mean?

The truth of the matter is that we just don’t know. Danny’s troponin levels were elevated. Troponin tests are ordered for people with chest pain, to see if they have had a heart attack or other damage to their heart. Troponin tests are used to detect and evaluate mild to severe heart injury. Normally, cardiac troponin levels are so low that they cannot be measured and in instances where there has been a heart attack, sometimes remain high for 1-2 weeks after. The test is not affected by damage to other muscles. Danny’s troponin levels increased. CK-MB also increased. CK-MB is a more sensitive marker for myocardial injury that total CK activity because it has a lower basal level and a much narrower normal range. CK-MB levels become elevated in 4-6 hours after a heart attack and peak at 10-24 hours. CK-MB measures small, but significant changes during the early hours following onset of chest pain. But here’s what we do not know. We did not have baseline tests. Trophonin and CK-MB are not done with the typical evaluation, so there is no baseline. We don’t know where Danny’s levels started, we simply know they increased. His echocardiogram was unchanged from previous.

What we can say is that Danny had a cardiac event. There was no damage to the heart. Echo was unchanged. And levels decreased.

Here’s the take-away message.

1. Kids (all of them) get sick when we feel least prepared or connected.
2. No matter where you take your son for care, take home information about the hospital’s emergency system. All hospitals have contact information on the doctors – home phone, mobile phone. Cincinnati Children’s is developing a card with exactly this information – it will be given to every patient/family.
3. If you take your son to the ER, ICU, CCU, hospital (anywhere), insist that the doctor connect with his Duchenne doctors. I realize that this request may not sit well with the ER doctor …. Excuses “I treat kids all the time, this is a busy ER, I have heard about Duchenne, I know about steroids,” but this just does not cut it because we know Duchenne is very complex, that there are few experts in the world and likely none at the ER near your home, and that there is significant clinical variability (each child is different). And the heart is a muscle too.
4. Cardiac workshop. We held a cardiac workshop several years ago to discuss what we know, what we need to know, and what we might do now. We are interested in proactive care, hopefully to prevent, slow, or stop dilated cardiomyopathy.
5. Advocacy. We are working on a pilot telemedicine project – hub and spoke – to connect experts to families /doctors. As clinical trials open in the US and elsewhere, close connections need to be in place for those very late nights.

Danny is home now. There are still answers Jen and Dan are waiting on. But Danny is okay, his parents are okay, and we will keep doing what we can to share any pertinent information with you.