We have so much to be thankful for…
From our house to yours, Happy Thanksgiving!
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.
For Christmas, we would love to be able to give a fraction of what we have been given…
Here’s a wonderful way of showing your support for an organization that is near and dear to our hearts! Thanks to Macy’s for supporting the Make-A-Wish foundation!
I am referring to germs, they found us and apparently are tough enough to stand up to the copious amounts of Lysol used in our house. Jack has been sick for the better part of a week, he has been struck with what we thought was strep throat and some sort of upper respiratory virus (para virus) that is lingering and according to our pediatrician has the reputation of causing secondary pneumonia. The poor kid has not been feeling well at all, but I sent him back to school on Wednesday after being on antibiotics for 36 hours, and no fever for 24 hours. He looked awful and had no appetite, but we worry about him getting too far behind. I know, I am a contender for “worst mother of the year” for sure. The kid is smart, really smart, but slow, really slow. Yesterday, he came home from school and it was just the two of us sitting at the kitchen table sharing a bowl of soup. He was so tired he could not hold his head up. He shared with me that he did not feel well, but he liked that it was just the two us at the table. We talked about some very intense stuff, he cried, I cried, and told him that I was happy that he talked with me. I am not sure if it was the fever or the emotions brewing inside, but he needed me and I was so glad that I could be there for him. His fever is better today, but his symptoms are not. I will bring him back to our pediatrician on Monday morning if he is not any better.
Miss Sophie woke us in the middle of the night on Tuesday stating, “I don’t feel good…”, which is code for I am going to throw-up all over you in less than ten seconds. Thankfully she was on Drew’s side of the bed because it is closer to our bathroom. I yelled at him to get her to the bathroom a.s.a.p, since he was in a deep slumber. Just as he got her there, he yelled back to me “good call babe!”. Poor Soph, she practically turned inside out that night. Drew had to leave for work at 4 am for a very early morning meeting which meant that neither he nor I got any sleep. I washed five loads of laundry between the hours of 2 am and 7 am all the while attending to Sophie, doing Lucy’s 5:30 med schedule, and washing and cleaning. Sophie’s GI bug lasted only 24 hours, but it had me doing a subterranean cleaning for 48 hours. She was back to her happy perky self by Thursday morning.
Germs are the enemy in our life! Illnesses surround us this time of year, and we have to try our best to keep them away as any illness can be detrimental to Lucy’s life! Lucy’s immune issues are severe not only because she has mito, but because of the fact that she has secondary hemophagocytic lymphohistiocytosis (HLH), or macrophage activation syndrome (MAS). What happened to her in April as a result of coming in contact with the flu B virus can and most likely will reoccur when her body comes in contact with another virus. It is a difficult balance of living life and living in a bubble. We isolate our kids when they are sick as a way of protecting Lucy, but as you can imagine it is difficult. Lucy wears a mask whenever she is out in public, it always amazes me that she never complains about it, it is her norm. I have tried wearing a mask for an hour or longer, it’s uncomfortable not to mention hot. Our kids are programed to wash their hands the minute they walk in the door, eat, or want to play with their sister. We use copious amounts of soap, hand sanitizer, and Lysol products. We are aware of the literature out there that states anti bacterial products are to blame for the resistance to antibiotics, I don’t disagree that there is probably some truth to those statements. However, in our situation it is our best defense at keeping Lucy “healthy”.
So far Megan has been spared of any illness. She and Sophie share a bedroom, and on Tuesday night Megan woke up and moved herself to our bed saying that she did not want to breath in whatever Sophie was throwing up. Lucy too has not shown us any signs that she has what Jack or Sophie has, but she is “off”. We were at DuPont on Friday for an appointment with the cardiologist who specializes in arrhythmias(I’ll update in another post about this appointment), while we were there Dr. R saw our girl and ordered labs and blood and urine cultures, he agreed she does not look good and is concerned.
We are praying for good health all the way around, that Jack starts feeling better, and that whatever is causing Lucy’s symptoms disappears without a trace.
Thanks as always for your thoughts and prayers.