Not your typical Thursday…

We are currently sitting in day medicine watching blood drip ever so slowly into our baby girl.  Dr. R  came over to discuss the details of the day, and reminded me again that transfusion is really our only option for alleviating Lucy’s cardiac symptoms.  On Christmas Eve we received a call from Lucy’s cardiologist.  The results from Lucy’s Holtor monitor revealed what we suspected.  Lucy is tachycardic (high heart rate), and her tachycardia increases even more with changes in position (orthostatic).  Lucy’s heart rate issues are as a result of her autonomic dysfunction, which is affecting her sinus node.  They have diagnosed Lucy with sinus tachycardia, and postural orthostatic tachycardia syndrome, POTS.  We discussed medications, specifically the use of beta blockers to help control Lucy’s cardiac symptoms; unfortunately, the side effects of the medicines would exasperate many of Lucy’s mito symptoms.  Beta blockers are heavy duty meds for “normal” people, but for a kiddo like Lucy they are very risky. 

Last week we learned, after several discrepancies, that Lucy’s blood type is not the same as mine or Drew’s.  Lucy is A negative, one of the rarer blood types in Caucasian people, leave it to Lucy to be different.  Because of this, we were unable to do a directed donor blood donation.  Lucy is receiving packed A negative red blood cells from the Delmarva blood bank, many thanks to those of you who donate blood!

After several attempts, IV team placed a peripheral IV line in Lucy’s left foot. It’s not pretty, but it gives us a point of access to transfuse the blood.  We are able to keep Lucy’s TPN running at the same time as the blood, which helps us avoid the whole hypoglycemia issue.

UPDATE

Everything went as well as could be expected today.  Lucy’s body appears to have tolerated the whole procedure.  It’s too early to say for sure, but it looks like her heart rate has come down slightly, we have not seen too many numbers above 170.  We will monitor her closely for the next few days so that we can get a better idea of where her numbers fall.

Many thanks to all of you for your thoughts and prayers, we feel so supported!  We would especially like to thank the brigade of loving friends who watch over our three other children so that Drew and I are able to sit bedside with Lucy.  Your love and unwavering support means the world to us!       

The Holiday Rush…

Christmas is coming, and with four little ones in our house you can imagine the excitement brewing around here!  Letters to Santa have been written and rewritten, finalized, and sent.  We have a visitor from the North Pole who has taken to hiding in various places around our house.  Jack thinks he is a spy of sorts, Sophie asked if he was a tattle tale, nobody wants Lucy to touch him because it is believed that he will loose his magic with the touch of a child’s hand, and Megan believes in the magic so much that she was upset when our little Elf on a Shelf was found to be in the same spot two days in a row.  She thinks that I ruined the magic because I set him on our mantel the first day he arrived, but what she didn’t realize is that the magic is not lost if a grown up touches the Elf on a Shelf, right!?!  Apparently, the Elf on a Shelf returns to the North Pole every night and then returns back to our house only to be found in a new location, his mission is to report back to the man in the big red suit all of the good, the bad, and the ugly.  So far, so much fun!

Most of our shopping is complete, our house has been decorated since the Saturday after Thanksgiving, and believe it our not I have most of our packages wrapped(a first for me).  I was on a mission, and a bit of an adrenaline high, after coming home from the hospital with Lucy the day after Thanksgiving.   I knew we had to get things done because you never know what life will be like in our house.

We are feeling the holiday rush in the medical world, even though sickness never takes a vacation, the people that treat it do.  We have made some decisions for Lucy this week that are impacted slightly by the holidays.  We are scheduled  next week Thursday to have Lucy transfused.  We are putting off doing it this week  because we want to be home for Christmas.  She has been anemic for a while but is showing more and more symptoms of anemia, and at this point we all feel that there is the potential to alleviate some of her symptoms  with blood transfusion.  Lucy’s body is not able to make enough new blood to make up for the loss from weekly blood draws.   This decision has not been an easy one to come to for us or Lucy’s doctors.  Our biggest concerns are vein access,  her hypoglycemia, and the risk of reactions.  Our hope to is to do a directed donor blood transfusion, which means that Lucy will receive my blood.  This is a process, that’s stating it mildly, but if it means that the potential for fewer reactions is there then we are willing to jump through the million hoops to get it done.  Of course the holidays fall right in the middle of our five business days to get things processed.  I have faith that things will work out…they have to!

In addition to a transfusion, we started Lucy on oxygen therapy.  I know…just what we don’t need more tubes!  Her pulse ox numbers are all over the place and her behavior has been…um…unusual for Lucy.  She is acting more antsy, shaking and bouncing her head on things, waving her arms in the air, and pacing back and fourth on her wobbly legs, we think that she is doing this because for some reason it helps her feel better.  Dr. R and I have had several conversations about this and we feel that her increased activity is moving oxygen through her body faster; therefore,we are starting oxygen therapy to see if it helps her to feel better and also stabilize her pulse ox numbers.  Mito is a disease in which the body does not convert the food you eat or the oxygen you breath into the life sustaining energy your body needs to function. Anybody have any suggestions on how to get a two year old to keep on a nasal cannula?

Yesterday, we had an impromptu visit to DuPont to get Lucy’s belly scanned yet again, and also to have her blood typed and screened, one of the many hoops that needs to be jumped in order to get her transfused.  While we were at day medicine getting blood drawn from her line, Dr. R came over to take a quick look at our girly and her bile output.  On Monday Lucy had close to 600mls of thick, dark green, smelly, bile pour into her drainage bag.  We are again dealing with small bowel bacterial overgrowth(SBBO) and this time it is back with a vengeance, we have only been off of an antibiotic for one week.  We are putting Lucy on a new regimen of  antibiotics, what Dr. R is calling the “big guns”, these meds are generally given as IV meds but we are going to be mixing them and administering them via her j-tube.  Speaking of her J-tube, another KUB scan of her belly revealed what we were afraid of, her J-tube that she has had in place for all of six days had migrated out of her jejunum and into her stomach.  We suspected this because of the  dramatic increase in bile output and also because when we administered Lucy’s meds through her J-port meds came pouring out her G-port into her drainage bag.  Ugh…for the third time in three weeks, we had to have another J-tube replaced in IR.  This placement was by far the worst we have had to go through, as Lucy’s belly did not empty at all for the procedure and they had to suction out the contents in her stomach all the while trying to place a new tube in position.  We are going to discuss with Dr. R what our options are for tube placement and come up with a better plan than what we are doing currently, weekly trips to IR.

In addition to all of the medical drama around here my parents, my brother, sister, brother in-law and the twins came  for a visit.  We have thoroughly enjoyed their visit, in spite of Lucy’s newest medical issues and Megan being home sick with a fever since Monday morning.  Tomorrow morning if Megan’s fever still persists, then I will take her in to have her looked at.

Tomorrow is the last day before Christmas vacation for our kiddos!  We are planning a surprise for our kiddos tomorrow night that I will tell you about later.  For now, I am going to leave you to digest all that I have written, and thank you all yet again for all of your thoughts and prayers.

More appointments…

Today was filled with even more appointments, this time at DuPont.  Last Thursday when we met with Dr. R it was determined that we needed to see Lucy’s cardiologist a.s.a.p.  We received a call yesterday saying that they could see Lucy today at 1:30.  I know, I know, we are gluten for punishment.  Two days in a row where our girly had to forgo her typical four hour nap, it has been rough, and not just on her.  However, seeing cardiology was of the utmost importance so we took it.  Lucy has been dealing with tachycardia since the beginning of November, her average heart rate is in the 160’s, much higher than the average 33 month old’s heart rate.  Her dusky blue spells and mottling have only increased and her pulse ox numbers are just plain crazy.  We had a repeat EKG and echo today because it is apparent that something has clearly changed since her last set of tests in October.  On exam Dr, B, Lucy’s cardiologist, detected a very loud murmur when Lucy was upright, but when she was laying down she was unable to detect it.  She told us that this could be because Lucy is anemic, apparently this type of murmur is a symptom of anemia. 

Lucy’s EKG showed her to be tachycardic, but thankfully her echo was normal .  Dr. B agrees with Dr. R that Lucy’s cardiac issues are related to her autonomic dysfunction, and not her heart muscle per say.  She is concerned that Lucy’s heart muscle is tiring out, as some of Lucy’s lab work is indicated this.  She is describing Lucy as having sinus taychcardia.  She is monitoring Lucy’s heart rates over the next 24 hours with a Holter Monitor.  When the results are back, she and Dr. R will discuss what the next steps will be.

As if we have not had enough medical appointments, we had an urgent need to go back to interventional radiology (IR) to attempt to fix Lucy’s J- tube.  Last night we were unable to push in or pull back anything with Lucy’s tube.  I spoke with Dr. R this morning about this and all of our appointments yesterday,  and he put the orders into IR today.  Fixing the tube was no longer an option when, while trying to transfer my baby to the IR table with all of  her numerous tubes and wires hanging off of her body, I accidently snagged her J-tube extension on her wheelchair and pulled the whole thing out.  Anyone want to nominate me for mother of the year?  We had to go ahead and replace the tube.  Drew had never been through a tube placement before, and for good reason.  Let’s just say that he did well for the most part, but had an encounter with the floor that left him needing some medical attention himself.

It’s late and we are tired, too tired to go into detail about our day at CHOP.  I will write later about those appointments.  Thanks as always for your thoughts and prayers.       

Appointments…

Last week Thursday we had through and emotional appointment with Dr. R….I am working on a post about that appointment that I will post when I am finished. 

In the mean time, we are scheduled to see the top motility specialist at CHOP today.  We were originally scheduled to see this specialist on October 26th…well, we know what happened then.  We are hoping that they will have some valuable insight into Lucy’s issues.  This will be the first time that we meet with this doctor, please pray that Drew and I are able to convey all of Lucy’s pertinent medical information to this new doc.  It is never easy for us to meet with new doctors, Lucy’s medical file weighs more than she does!

We also have an appointment with Lucy’s metabolic doctor today.  CHOP aspires to be one of the top mitochondrial research centers in the country.  They recently recruited one the top mitochondrial researchers in the field (Dr. W), and we are hopeful that life saving research so close to home will eventually be in the future.  As for now, we will continue to follow with metabolism in hopes that we can have access to some of this life saving research.

Lastly, we are meeting with the Pediatric Advanced Care Team (PACT) at CHOP.  They provide palliative care, “Pediatric palliative care is a comprehensive approach that focuses on the psychological, social, and spiritual needs of patients with life-threatening illnesses and their families.'”  We are looking to the experts to help guide our whole family through some of the varied emotions and experiences we are facing with Lucy’s life.

It is going to be a long day…we know that! 

Thank you in advance for all or your thoughts and prayers!  For all you prayer warriors out there here are some specifics that you can be praying for.  Please pray that it will be a productive day, that Lucy has the ability to tolerate such a busy day, that Drew and I are able to advocate for our daughter and family effectively so that our needs will be meet.

Some things…

I know, I am behind in updating.   A friend asked me recently if no news was good news?  I think, that recently, no news means that I have been too tired to blog and I don’t know how to put into   words all of the things that have been going on in our world.  I want so badly to write about nothing…about mundane everyday things… about how the stress of the holidays is overwhelming right now.  In reality, the stress of the holidays is a welcome stress, it is something that most everyone is feeling at the moment, and sharing feelings that most people are experiencing makes us feel “normal”.  It is something that we can talk to others about, because we know that what we are living with, feeling, and experiencing is so very different and difficult to talk about.

We often get asked how we are doing, Drew and I, and how the other kids are handling things.  It is impossible give a simple one word answer to this question. There are moments where I want to shout to the world “don’t you know our daughter is very sick and ‘blank’ doesn’t matter” and other times I just want to go on living like none of “this” is even  happening. Some moments are better than others; but, overall we are all leaning on one another, gaining strength from one another.  I love how when one of us is down there always seems to be one of us who is there to pick the other one up, I guess you can say that this  is one of the many blessings of having a large family, someone is always there for you when you need them and vice versa. 

Again we were at DuPont yesterday, this time to get yet another KUB (kidneys, ureters, and bladder)scan  of Lucy’s belly.  Dr.R wanted this scan to examine Lucy’s bowels, tube placement, and to see how constipated she is.   Lucy has been experiencing increased belly pain in the last few days that has been consistent; in short, she is miserable.  Her bile output is yucky, and she is vomiting when we try to push her meds into her j-tube.  When I spoke with him later in the day in regards to Lucy’s scan he said that she has stool that is impacted on her left side but is not totally impacted, however, it needs to be remedied.  By this he was telling me that we need to go back to using enemas and suppositories to get things moving and keep her from getting totally impacted.  Ugh…this is a regimen that neither she nor I like to do.

In addition to all of the belly pain, Lucy’s autonomic dysfunction has progressed, Dr. R is describing Lucy as having  an “autonomic storm”.  Her pulse ox, which measures the amount of oxygen in her blood, is all over the place but lower than we have ever seen it.  Her heart rate continues to remain high, and her coloring well…she looks pretty pale.  She is having more periods where she looks dusky and her skin is mottled.  Discussions about transfusion and just how exactly we are going to do this for Lucy were had.  Vein access and hypoglycemia are some of the hurdles to getting Lucy transfused. 

We are scheduled to see Dr. R tomorrow,  my list of things that we need to discuss with him is growing every day.

Thank you as always for your thoughts and prayers.        

So much change, so little time…

To write that is, life has been busy in the Marlett house.  I want to apologize to anyone who has called, e-mailed, texted, or tried to communicate with us in, let’s just say,  the last month or so, it has been difficult to find the time to talk , type, or get together.  Please, please, know that we love hearing from you and  will get back to you…soon, I hope.

There are so many thoughts and feelings floating around my head,  sometimes I worry about sharing too much, as a way of protecting everyone around us from some of the intense and varied emotions that accompany what we are living with.  On the other hand, it is the intense emotions that make our life our life. 

We have come to expect challenges everyday… and challenges are what we have been dealing with on so many levels.  For instance, today, Thursday our craziest busiest day of the week, we had an urgent need to get to DuPont to have Lucy’s GJ-tube replaced in IR because her J-tube migrated out of her intestines and into her stomach, causing our girly to have many issues.  We have been dreading a tube change for Lucy because for Lucy it is a very traumatic experience, add to that the fact that we could not use any sort of sedation medication and it made for one stressful afternoon. 

Tomorrow’s another day, and hopefully I will have some time to write more.  I will say that we are adjusting to some of the new challenges in our life and that feels pretty good.  The kids are really doing well and are adjusting to all of these changes,each in their own way.