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.

Reversing the question – parents helping children; children helping parents. Is there a middle?

I just returned from a meeting in Europe and one of the best things about these meetings is hearing stories of families, listening to experiences, and learning about those special times when a child’s insight makes us stop in our tracks. It is not about criticism or what is wrong, right, or in between. It is just about those times when we find our hearts’ making a recording that we will remember all the days of our life.

One mom talked about all the things she was doing for her son. She described a pretty time consuming schedule that included supplements, stretching exercises, aqua therapy, as well as a very strict diet. It was pretty amazing really and I had the sense that she had achieved the perfect “10” as a mom, someone we would all look up to and wonder just how she fits everything into a 24-hour period or if she found some magic to stretch the few hours in a day. All of a sudden in the middle of her story, she had tears in her eyes as she talked about one particular evening when her son was grumpy as she started the stretching exercises. He had had a full day. As she started his stretches, he started crying. She asked if the stretch was painful. He said ‘no.’ Like all of us, she probed, asking if something went wrong at school, if his stomach was upset, if he was in pain, looking for something, anything to understand the tears. We have a natural tendency to try to ‘fix’ everything. He simply said he did not want to do the stretching tonight. With that, her fear increased and she tried to sooth him, tell him how important this was for his muscles, how much she was doing to help him. And in that very simple way that children have, he said, “You are not doing this for me, I am doing this for you.” She felt her heart breaking.

I also spoke with a father whose son is now in college. He discussed his son’s detailed agenda to include a variety of interventions squeezed in between college classes and studies. I asked about friends, about movies, about music, about laughter. This father said all that would come later. I wondered when ‘later’ was planned. This father was so worried that if something interrupted their rigid schedule, his son would lose function. He felt this regimen was essential to maintain the life his son had, the things his son was able to do at this very moment. One glitch, one change, and it would fall apart.

I remember hanging on for dear life, thinking that if I changed one thing, if I took time to breathe, time off, time to enjoy something or some activity from my previous life, things would fall apart. It felt like my life was hanging on a thread. I remember hanging everything on the future. I started sentences with ‘when this happens,’ thinking that a certain clinical trial would yield amazing results and then we would catch up on whatever it was that we missed.

Every once in a while, I think it is good to take a step back and remember, the life we are living is not a dress rehearsal, it is the real deal. There are no ‘do overs’ and no way to recover time lost. So, while we are all aggressively pursuing what we think is the best route for our sons and daughters, it is important to listen to their voice, to ensure the discipline of care includes their perspective and their opinions.

And as you make up the schedule, please include 30 minutes of laughter. It should be considered a therapeutic intervention!

Washington Week in Review

Did I miss Spring?    I spent the last week of May in Washington, DC.    I had meetings on Monday and Tuesday centered around regulatory issues (FDA and OOPD), compounds, small clinical trials, webinars, and workshops in the planning stages and tossing around some ideas about how to design new models for trials, or how we might encourage companies to think a bit outside the box.   Discussions like this are like taking a breath of fresh air into your lungs.  I find them invigorating, hopeful, and promising, incredibly thankful to see the results of our early investments in research now move from the bench to the bedside .   On the other side, I realize nothing will ever move fast enough for our boys.    

By midweek, the conversation changed slightly to include the range of interest, opportunities, and programs focused around  Rare Diseases (R.A.R.E,  Every Life Foundation,  Rare Disease Caucus, GrandRx, Cure the Process, etc), how the Rare Disease Community is focused on developing tools to streamline the drug development process for rare disease and the worldwide focus on RARE. 

At the end of the week, I participated in my last face-to-face meeting with the Institute of Medicine Committee.   I have been serving on this committee for the last year.   While some of the committee members knew each other in a past life, the charge of this committee was new and quite daunting.  We were  charged with writing a comprehensive paper on Accelerating Rare Disease Research and Product Development in Rare Diseases and writing recommendations that are expected to result  in legislation.  This experience has been intimidating, amazing, and wonderful all at the same time.   The committee is comprised of individuals representing a  broad range of expertise –academia (clinical trial experts, epidemiology, rare disease), researchers, venture capital,  drug/device executives, attorneys, and  foundations.   This last meeting was bittersweet. We came to the end of our investigation, reporting progress to date and making recommendations for changes that we hope will positively impact the trajectory of treatments and cures.   For me, it was a incredible learning experience, to systematically go through what we now know about rare disease, what we need to know, what tools need to be developed, what processes need to be streamlined, and where resources would be useful.  What was even more moving was to understand that each member of the committee had been impacted by a rare disease, that each member understood how rare disease isolates, how rare disease impacts individuals, and how we, as a country might work together to break barriers that get in the way.

 The report is expected to be published this Fall.