The Readers Digest version…

Sad but true, I don’t have enough time during the day to sit down and write a blog post from start to finish.  I very often begin posts only to find that days later they remain incomplete.  By the time I sit down to finish writing, I am often too tired to complete a thought much less write one down.  My lack of blogging is certainly not because of a lack of things to blog about…quite the contrary. Things have been busy in our house…I am hard pressed to think of a time when they have not been. In an effort to catch up, I am going to attempt to write the Readers Digest version of medical events.

Lucy an I are spending our afternoon at the hospital in day-med getting a blood transfusion, which is why I have time to write.  Nothing slows me down more than being on hospital time watching blood drip ever so slowly into our little one’s body.  Luc is in need of a boost that blood gives her, we are looking forward to rosier cheeks, lower heart rates, and hopefully a decreased need for oxygen.  Hematology-wise Lucy has developed some new issues, aside from her reoccurring need for blood, it appears that she has developed a clotting disorder that has us all wondering why.  A while back Lucy occluded all four of her IV lines while they were running, to quote our infusion nurse “That’s impressive, but then again it’s Lucy!”.  For the last month we have been running tests on Lucy’s blood to help us understand the cause of her clotting issues.  Dr. R is consulting with hematology in regards to all of this.  On the plus side, we got approval to use TPA ,the medication that is used to break up blood clots, at home which means that when Lucy’s line clots off we no longer have to sit in the emergency room or day med for hours on end waiting for blood to dissolve.

Lucy is battling yeast again still, she is covered in yeast from head to, umm... bottom. For the last month we added oral antifungals to Lucy’s g and j tubes as well as swabbing her mouth with the med in hopes of eradicating the yeast from her entire GI system. We’ve had Lucy on a daily prophylactic IV antifungal since July in hopes of keeping the yeast from entering her bloodstream thus preventing it from getting to her CVL, but it does not work in her stomach and intestines as it does not go through her GI system. Infectious disease has been consulted on this issue because in theory her IV antifungal should be preventing the thrush in Lucy’s mouth. It is thought that Lucy’s poor immune system is playing a role in this issue. We had recent discussions with Dr.R about adding IVIG therapy to Lucy’s list of therapies. In theory this could help to boost Lucy’s immune system, but as we have learned Lucy’s body has other theories.  

We have not had any sleepovers in the hospital as of late and for that we are very grateful!   That is not to say that you haven't seen us around the hospital, we are here at least once or twice a week sometimes more.  In an effort to keep us from sleeping over we continue to increase Lucy’s level of care at home, trying to be proactive.    When Lucy had her most recent central line(CVL) placed in October, our surgeon cautioned us that access is an issue for our girl, she is not easy to get a line into, as a result we need to do everything we can to preserve the integrity of  this line.  In an effort to keep the infections at bay, we began daily ethanol lock therapy on Lucy’s CVL.  This has added another step to our daily med schedule that makes things even more complex, our home nursing agency has expressed to us that they are in uncharted waters when it comes to staffing nursing at our house.  Lucy’s level of care is A LOT, but because we have all of the help that we do have we are able to continue to live our life at home!

When you have a child like Lucy you are always waiting for the other shoe to drop, so to speak…we know she is going to have another line infection,  get sick with another virus, and end up in the hospital again sooner or later.  Drew and I  have had some very serious discussions about life with Lucy’s team, we all hope to give Lucy “the best longest life”.  Mitochondrial disease is a very difficult disease to try and predict, nobody knows what the prognosis is for our girl.  Dr. R uses phrases like “she is not heading in the right direction”, or “she is my sickest patient at the moment”, or “Lucy is the one I am most worried about at the moment,”, but he will also be the one to tell you that you never know what can happen.  He is a glass half full kind of guy, we often refer to him as our eternal optimist, but even so he continues to tell us that he is worried about our girl.  She is very unpredictable, yeah she likes to mess with your mind and heart like that, after all she is a girl.  Knowing what we know about Lucy’s health, hoping for the best, and with the support  and encouragement of Lucy’s team Drew and I agreed to put Lucy on pediatric hospice.  I will write more about this in a later post, but know that this does not mean that we are giving up on treatments, or that we feel that Lucy’s time here on earth is coming to an end.  It is our hope that by adding hospice to our team we will be able to provide Lucy, our entire family for that matter, with supportive care in our home environment.  I would be lying if I said that this was an easy decision, nothing about Lucy’s life has been easy, but we have some peace and comfort in knowing that we have the resources available to us that hospice can provide.

Thanks as always for your thoughts and prayers, love and support, we could never do this alone.    

Baby has a brand new set of wheels…

Lucy’s new wheelchair is here!  She has outgrown her old chair both in size and medical need.  Her new chair is bigger, heavier, more comfortable for her (not quite as comfortable for me to push), can support the weight of all of her medical equipment, has an IV pole, is pink, and has her name embroidered in pink letters on her seat to match her chair.  This is just a little something special that our wheelchair clinic likes to do for their kiddos  The first thing Lucy said when she saw her new wheelchair, “It my name!”, referring to the embroidery on the seat.   She just about feel out of her chair the first time she sat in it because she was so excited to show anyone and everyone her name.   

 

Her new chair has both tilt and recline, which means nothing to those of you who have never ordered a wheelchair before, but to those who have this is the reason that Lucy is more comfortable in her new chair, and also why her chair is so heavy(over 100 lbs.).  These two features combined mean that Lucy can be positioned in such a way that we are able to reduce the pressure on her belly, thus allowing her to be more comfortable.

Baby now needs a brand new ride for her new set of wheels.  We are nearing the end of the process of purchasing a wheelchair-accessible-van.  If you thought buying a car was a process, try buying a car with a wheelchair ramp!  Having a ramp van is going to make our life a whole lot easier when it comes to transporting our crew, especially Lucy!  We had some specific needs for our new wheelchair-accessible-van, mainly adding a fourth seat to the backseat as opposed to just having the third row back seats.  Because of this our options for what type of van and where we could purchase our wheelchair-accessible-van was limited and expensive, the ramp conversion costs almost as much as the van!

Our family has been blessed by the kindness, caring, love, support, and generosity of others in so many ways we feel humbled and honored!  There are several fundraisers occurring to “Help Us Lift Lucy into Her Van!”.  On Friday night The Hockessin Music School, a school that our family has been involved with for the last 10 years, hosted a family music night in honor of our family in hopes of raising some money for the cost of our van.  We never expected the outpouring of support that we received, it’s simply… amazing!  Additionally, Musikgarten, the music curriculum that our children have learned from, just released a new lullaby CD.  Jill, our friend and children’s music teacher, is selling the new CD for $12.00 as an additional fundraiser.  She and her husband are donating $5 for every CD sold, her sister who also teaches music classes offered to donate an additional $3 for every CD sold, and two very loving and supportive music school families each agreed to donating another $1!  This now means that for every CD sold $10 is going towards the cost of our wheelchair-accessible-van! I was told that at last count 90 CD’s have been sold!  If you are interested in purchasing a CD please leave me a comment in the comments section and we will make this happen.

 

If you live locally, there is another fundraiser occurring this Thursday, December 8th at  Wackadoodles Toy Shop. Betsy, the owner of Wackadoodles, heard of our story and very graciously offered to host a fundraiser for our family.   I cannot tell you how amazing it is that our family, our life, our littlest one’s heroic struggle with mitochondrial disease has touched the lives of so many.  It is every parents hope that their child make a difference in this world, we could never have imagined that ours would be doing this at such young age!   We feel so blessed to have the love and support of so many, to be living among those who care so much, to have a community that wants to reach out to those in need…we could never do this alone!  Thank you! 

Here are the details for the upcoming Wackadoodle’s fundraiser, feel free to spread the word!

Help us lift Lucy into her Van!

Lucy Marlett is a beautiful three year old girl with Mitochondrial disease. Lucy recently moved to a wheel chair that does not fold and weighs over 100 pounds, which makes a wheelchair-accessible-van a necessity!

Here is where you can help. Wackadoodles Toy Shop has graciously offered to donate a percentage of their total sales for one day to the Marlett family to help with the cost of their new wheelchair-accessible-van.

When: You are invited to attend a fun day of shopping at Wackadoodles Toy Shop on Thursday, December 8, 2011.

Where: Wackadoodle’s Toy Shop 61 Jenner’s Village Center West Grove, PA 19390 (Next to Giant) Phone: 610-869-2404

The Details: Wackadoodles Toy Shop will give you 10% off of your total purchase and donate 10% of your total sale to the Marlett family, or you can opt to have Wackadoodles donate the entire 20% or your total sale to the Marlett family. All you need to do is present this coupon to show your support.

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This coupon is good for 10% off of your total purchase at Wackadoodles Toy Shop on Thursday, December 8, 2011. Wackadoodles will donate an additional 10% of your total sale to the Marlett family or you can opt to have Wacakadoodles donate the entire 20% of your total sale to the Marlett family.

Total Sale*__________________________________________

*Offer not valid with any other coupons, promotions, or sale items. This offer is valid for in-stock items only. Total sale does not include tax.

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Happy Thanksgiving…

We have so much to be thankful for…

From our house to yours, Happy Thanksgiving!

Matters of the heart…

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. 

Letters to Santa…

Dear Santa,

     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! 

What comes around, goes around…

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.

Trick or Treat…

A snow storm, an autonomic storm, a pumpkin shortage, a migraine headache, fever, vomiting, and strep throat tried to trick us into not celebrating Halloween his year, but we managed to find the treat in celebrating. No, Lucy is not the sick one (yet), it’s Jack. 

Happy Halloween!