A few weeks ago we had an appointment with a cardiologist who specializes in pediatric cardiac arrhythmias, also know as a cardiac electrophysiologist for those of you medical junkies out there. Dr. R likes to harass quiz me on my medical knowledge anytime he can, I have to remind him that I specialize in Lucy, not medicine.
For over a year we have observed changes in Lucy’s cardiac health. She was diagnosed with tachycardia, accelerated heart rhythm, last year around this time in addition to postural orthostatic tachycardia syndrome (POTS), in which Lucy’s blood pressures and heart rates would change over 20% with changes in position. We originally thought, more like hoped, that Lucy’s tachycardia was related to her chronic anemia. If we corrected her anemia then we hoped we would see an improvement in her heart rhythms. Sadly, we did not see much of an improvement in Lucy’s heart rates post transfusion. After wearing a 24 hour Holter monitor, Lucy was diagnosed with having sinus tachycardia, tachycardia resulting from the sinoatrial node due to autonomic dysfunction. Little did we know how chronic Lucy’s anemia was, her bone marrow is affected by her mitochondrial disease and as such does not have the ability to make an adequate amount of blood for Lucy’s body. Couple that with weekly lab draws and daily procedures in which blood is taken from her body, and she loses more than she can make up for on her own. Lucy becomes symptomatic of anemia(accelerated heart rates, neurological changes, and oxygen dependent just to name a few) anytime her hemoglobin falls below 10g/dL, her need for blood transfusions is now about every four to six weeks, sooner with illness.
Changes in Lucy’s blood pressures, dramatic edema, and heart rhythms, had us all scratching our heads trying to figure out what could be going on with our girl. Lucy was diagnosed with hypertension during her acute illness in April/May which has proven to be persistent. Clonidine is working to keep her pressures low. We had nephrology do a full work up on Lucy’s kidneys to rule out kidney disease as a cause for Lucy’s hypertension. Although Lucy’s kidneys are affected from her mitochondrial disease, they are not the cause for her hypertension. In July, Drew and I noticed prolonged periods in which Lucy’s heart rates were even more elevated than her normal(140’s/150’s). These prolonged periods appeared to be causing her some distress as she seemed agitated and was unable to sleep well during these times. After discussing these symptoms with Dr. R and Lucy’s cardiologist, we decided to do another Holter monitor test. The results from this test showed changes from her pervious Holter monitor done in December, it showed that Lucy had multiple episodes of premature ventricular contractions (PVC’s), in which her heart would skip multiple beats in a row. We look for trends in Lucy’s labs or tests that indicate change, since this was a dramatic change from December we decided to monitor Lucy again in eight weeks to compare the data. The results from this Holter monitor showed what we feared, Lucy has ventricular tachycardia, a type of tachycardia that can be fatal. It was at this time that our cardiologist referred us to the Dr. T, who specializes in these types of arrhythmias.
Before our appointment with Dr. T, it was decided that Lucy would need to wear a cardiac event monitor which recorded her heart rates over a thirty day period of time…oh yeah, we took that monitor with us to the beach. As if Lucy does not have enough stuff coming off of her torso, we had to find room to attach three cardiac leads and pager like device which recorded every beat of her heart for THIRTY days. At the end of each day, or whenever the monitor alarmed we had to call into the monitoring station to transmit the data.
On the day of our appointment with Dr, T, he ordered a repeat EKG and echocardiogram of Lucy’s heart to compare it with her previous tests. Our reason for meeting with Dr. T was to discuss with him what, if any, medical interventions could be done to lessen or improve Lucy’s cardiac issues. It is always difficult meeting new doctors at this stage of the game, granted if you are having to see a sub-specialist cardiologist you have to have some pretty significant medical issues occurring. Dr. T is not new to complex medical train wrecks like our daughter, but he is also not an expert in mitochondrial disease. During our appointment Dr. T discussed with us the reasons for Lucy’s tachycardia and other cardiac issues. First off, he confirmed her diagnosis of dysautonomia, adding to it that it is severe! Your autonomic nervous system is responsible for controlling things such as heart rate, body temperature, blood pressure, and digestion all areas that Lucy’s body clearly struggles with. Lucy’s dysautonomia is as a result of her primary mitochondrial myopathy. Secondly, Dr. T also discovered that Lucy’s heart is significantly undersized for her body, but is not atrophying! He told us that this is not an uncommon finding in kids with severe dysautonomia. Lucy’s heart has to pump faster to circulate blood throughout her body, one reason for the tachycardia. Finally, small heart size is not the reason for Lucy’s arrhythmias, these are caused by failures of Lucy’s autonomic nervous system to signal her brain to tell her heart to beat regularly. Lucy’s heart muscle is “normal”, albeit undersized, for lack of a better description. She does not have a cardiomyopathy(muscle disease) which is what most mitochondrial patients with cardiac disease have, instead Lucy’s cardiac issues are as a result of a cardiac neuropathy (nerve disease).
What if anything can be done about all of this? Dr. T told us that there is an experimental surgery which to his knowledge has never been preformed on a child as young as Lucy. This is where Drew and I stopped him, we are not looking for Lucy to become the first of anything in cardiac surgery, our goal for Lucy is to give her the best quality of life that she can have in her time here on this earth. Dr. T was relieved to hear this, he agreed that any experimental surgery would be just that, an experiment. The first creed in medicine is to do no harm, he believes that if we attempt to correct Lucy’s cardiac issues either by surgery or with medications that we could be doing more harm than good. All of the medications used to correct the cardiac issues that Lucy suffers with have serious side effects, and will interfere with many of Lucy's existing metabolic and cardiac issues. We must continue to monitor Lucy’s cardiac issues closely with regular Holter monitors, and bi-annual cardiac event monitoring. Due to the progressive and degenerative nature of mitochondrial disease, it is assumed that Lucy’s cardiac issues are not going to get better.
Drew and I were not expecting miracles from this appointment, and we very much liked Dr. T. We along with Dr. R were “hoping” that something could be done to improve Lucy’s cardiac symptoms with little or no side effects. When discussing this appointment with Dr. R, he commented that it was “disappointing but not surprising”. The decisions for Lucy are increasing in difficulty. As a mama, it is heart breaking to know that this disease is overtaking our little one’s body, one organ system after another.
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Our daughter, Kristen (now 21), also has mitochondrial disease with significant cardiac arrhythmias and dysautonomia. She has required cardiac pacing and medication since she was 3 (and multiple cardiac arrhythmia ablations in 2008). If you ever want to speak with a mom who understands please feel free to contact me by email, on FB or by phone. Joanne K servedogmom@yahoo.com
I'd been wondering how all of you were doing. I'm sorry to hear of more progression for Lucy.
Eithene's cardiac issues were almost identical to what you described. We had the same experience, that it is very hard to find the balance of what is worth treating and what will just do more harm. We had Eithene on clonidine for most of her life (first by patch, then by IV the last 8 months). For about a year we added a beta-blocker to that, to reduce her tachycardia, and help with her arrythmias. It worked, but as her autonomic dysfunction progressed we saw too many episodes of sudden low blood pressure in addition to the high pressures, and had to stop the beta blocker. For the last year of her life she struggled intensely with soaring and plunging blood pressures and heart rates that made all of our medication choices very difficult. She ended up needing daily IV clonidine to lower pressures and heart rates, and daily IV hydrocortizone to keep her pressures from getting too low. She had life-threatening arrythmias due to autonomic issues, one of her pain meds, and her severe electrolyte problems (that were related to her severe fluid balance problems, which I know Lucy also has some issues with). All of the IV diuretics that she needed to keep those in check just made the heart problems worse!
In the end, there just wasn't a "right" choice of how or what to treat.... we just did what you are already doing: We tried to make her as comfortable as possible for the time she had. It is very hard, but we can affirm what you already know, there just aren't clear treatment choices for kids as complicated as ours.
One simple "low-risk" treatment that worked for Eithene to lower her heart rates and relieve some of the stress on her body, was full-time O2. We just left 1-2 L on her no matter what her O2 sats were (often they were 98% or above), and this really did help. It's another tube, but was relatively easy to manage. Just something to think about.
Happy Thanksgiving. :)
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