An update on today’s events

We are home and looking forward to going to bed.  Lucy is home and sleeping like a baby in her crib.  Sophie is also sleeping as she had an exciting day riding in an ambulance and being spoiled by the ER staff at DuPont.  Jack and Megan had no idea what happened until just a few minutes ago when Drew and I told them.  They are so relieved that Lucy is doing better and that we did not have to be admitted!

Experience has helped us to learn what is normal and what is not normal when it come to Lucy.  Because of this I feel that I was able to react quickly to what Lucy’s body was experiencing.  We believe that the combination of her body being tired and the lack of nutrients put her body into metabolic crisis.  When this happens she becomes extremely floppy or hypotonic, she has starring episodes in which she does not respond, and she becomes dehydrated very quickly.  It is so freighting to see her get like this!  Thankfully she perked up after several hours on D10 solution and full feeds!   It was difficult to get labs on her today because she was so dehydrated, having labs drawn is very traumatic for her.  I wish there was another way!   All of her abnormal labs where typical abnormal labs for Lucy, nothing we are not already aware of.  Our experience with Lucy’s issues, knowing that she has mitochondrial disease, our very dedicated pediatrician, Lucy’s ER protocol letter, and the staff at DuPont helped to get Lucy back to baseline today, for that we are so grateful! 

I also want to say a huge thank you to all of our friends and neighbors who have come together to help our family in our times of need.  It means so much to us to know that you are there for us ready and willing to support us in so many ways.  I posted this warning before, knowing us can be hazardous to your cardiac health just ask our close friends and family.

Metabolic Crisis?

Thought I'd let you know what we are doing right now. I posted this on our mito forum and thought that I'd do the same here since we caused quite a stir in the neighborhood this morning. We are currently waiting for labs to come back. I'll post more later...



We have experienced what I believe to be the perfect storm. Yesterday we were out and about most of the day which meant no long nap for our excessive sleeper. Then last night sometime during the night her feeding set came disconnected form her g-tube, we fed the bed and not the baby, that hasn't happen for us in a while. Not sure how long she went without food, I checked on her last when I went to bed at 10 pm and didn't notice any problems. This morning she woke up at 8:30am soaking wet and smelling of vomit and Elecare. After bathing her I gave her a bolus feed of 40 ml of her Elecare, she normally doesn't tolerate a bolus so I had to be careful how much and how fast it went in. She burped and hiccuped when I did it but did not throw up, thank goodness. I then started her at her normal feed rate of 33 ml/hr and decided to take her and her sister for a walk. While out walking Lucy became extremely floppy and distant, she could not hold her head up, she kept falling forward. My neighbor called 911 and we were brought to the hospital where they connected her to D10 solution and tried to draw labs. She is a difficult stick but it's even worse when she is dehydrated, we have not been successful in getting all of the labs yet. We have an emergency protocol letter that outlines what the er needs to do in case of metabolic crisis. We are doing what it says and sitting her keeping a close eye on our little Lucy.

Where does the time go?

Again I am way behind in updating you on what has been going on in our lives.  I just can’t seem to find the time to complete a thought.  I am going to be lazy tonight and just write in list format some to the things/issues/stuff/happenings/goings on in the Marlett  house recently:

Sophie had her first day of preschool yesterday!  She has been anxiously awaiting this day, well I guess…all her life.  She was so excited to ride in Daddy’s car to preschool.  Drew used to drive Jack and Megan to preschool in morning and so the tradition continues(It works for me;).  Sophie ran out of the garage door yelling back to me, “Now Mom don’t be sad, you still have Lucy!  See ya!”

Megan and Jack both have new glasses that have  transitions lens, they love them.  They think they are so “cool”, I think they are slightly “dorky”.  They told me “all the kids at school like them, and they know what is cool Mom”.   My response to them,  “whatever?”  Oh my someone please stop them, they are growing up way too fast!

Jack came home from school on Wednesday with a VERY loose tooth, within seconds of him walking in the door it fell out.  Sophie saw all the blood in Jack’s mouth when he walked in the door and then saw the tooth fall out and said very emphatically that she was NOT EVER going to loose a tooth!

Here’s a BIG one, Lucy is taking independent steps! !!!!  Yes you read correctly, I started writing a post about this but haven’t finished it so I am going to tell you now just in case I don’t get to finishing that post anytime in the near future.  Words can not express how happy we are for our little one.  Mito is a disease of energy metabolism, some days are better than others, that’s just the nature of this disease.  All of her attempts at walking have really wore her out this week, but at the same time she does not want to sleep because she wants to practice her new skill.  Today all her walking  finally caught up with her, she slept most of the day.

After I posted about not having any doctor’s appointments this week or last I jinxed myself.  Last Thursday afternoon I ended up taking all the kids to our peds. office for round one of the flu vaccine thanks in part to their office calling me right away when the vaccines came in.  Lucy’s g-tube site was starting to look icky again on Thursday, how convenient we were already going to the peds office.   Fearing another infection we did a culture which indeed came back growing staff  and some other stuff again.  After the long holiday weekend her site progressively started to look worse.  Why do kids always seem to get sick over a weekend, or holiday, or a holiday weekend?   It looked oozy and yucky and was obviously painful.  On Tuesday when I went to lay her down for her nap her site started bleeding a lot!  With some quick thinking I called my neighbor who happens to be a nurse and asked if she would come and take a look.  In all honesty, I was probably a little more panicky sounding than that, it was a lot of blood.  She came with all three of her kids right away (amazing) and helped calm my nerves.  By the time she arrived the bleeding had subsided, she took a look  at her site and agreed that it did not look like normal granulation tissue, it looked unusual .  After talking with our ped. we decided that I should take Lucy to CHOP to see the GI stoma nurse practitioner.  On Wednesday morning I took Lucy back to CHOP  where the nurse practitioner looked at her site and thought it looked pretty unusual as well, sometimes I just wish someone would say, “oh, that’s so normal” when they  look at Lucy.  She talked with me for over an hour about g-tube sites and granulation tissue.  She was very compassionate and knowledgeable and I greatly appreciated all of her time and information, Lucy on the other hand did not.  She took silver nitrate to her site again and prescribed an antibiotic as well as trimcinolone cream to control the growth of the granulation tissue once the infection is gone.  She agreed that the sooner we can switch Lucy’s tube the better.  We are scheduled to see our GI in the next week or so, at that time we will discuss all of our options.

My sister came to visit over the weekend, we had fun staying up late and talking about “stuff”.  We did a lot of nothing and had a relaxing time doing it.  She watched the kids for us on Monday afternoon while Lucy took a nap.  Exactly twelve minutes after we left our driveway she called us saying Lucy was awake and that there was no way she was going into her room to get her.  Who knew someone so small could be so intimidating?  I told her to leave her in her crib as long as she was happy and to call me when she started getting upset.  Drew and I were just around the corner at our local Starbucks and could be home in a few minutes.   So there we sat trying to talk about everything while gulping our Starbucks and looking at the clock, not exactly what you would call a relaxing date but it was a date nonetheless.

We are looking forward to yet another weekend.  My grandparents are visiting us on their way back to Florida.  We are going to slow down and take the weekend to enjoy having them in our home, I just hope the rain stops tomorrow so that we can play outside.

I have fragments of posts that I have started over the past few weeks but have not had time to complete.    Hopefully you can look forward to reading a few of those in the the upcoming week or weeks.  I have so much I want to say but not enough time to write it down. 

School Days

School is back in session for our “big kids”.  I have to admit that I  have mixed emotions about school starting, I am sad that another summer is over and our freedom of doing what we want when we want to do it has ended.  School starting means we have to change gears and go back to a strict schedule again.  On the flip side, this year for the first time; I have to say that even thought I am sad about summer being over, I am happy to have a routine again.     It’s going to be a good year for them, I can feel it!  Jack is in the third grade this year.  How can I be the mother of a third grader?  His best friend since babyhood and he are in the same class together for the first time since preschool.  It’s a good thing.  Paul once said to Jack, “Jack you and me are like peas and carrots!”  They really are, they complement each other well and I  am so glad that they can share this experience.

 

Megan is in the first grade this year, she is gone from home all day for the first time in her life!  Megan has the same teacher that Jack had for first and and second grade and we are thrilled that she will be in this class for the next two years!  Half of her class knows Jack because he was with them last year, they have said to Megan that she looks like the girl version of Jack.  She loves school, especially being able to eat lunch at school.   I must confess that I miss having my “little mama” with me during the day.

Sophie and I have had some extra “special” Mommy and Sophie time this week.  On Monday she and I had a great time baking cookies and other goodies  for an afternoon snack for the kids, we played with puzzles, and went out to lunch together and Lucy too.  Lucy has been sleeping a lot recently, waking up for the day at around noon which gives Sophie and me some quality time.  On Tuesday morning she waved good bye to the kids and than turned around and said “Now we can have some special Mommy and Sophie time” and slammed the front door.  Sophie starts her preschool next week.

Lucy is not in school obviously, but we have therapy three times a week which is a commitment.  She is making progress and we are so proud of our girl!  She is really learning and retaining the signs we are teaching her each week.  It is so amazing to see her sign for help when she needs it!  Her six month review for therapy is coming up, when I think back we have really come a long way in the past six months. 

Next week we add after school activities to our schedule, at least we don’t have any doctor’s appointments scheduled.

Live and Learn (a long over due update)

We are still here, I just haven’t had much time to blog recently.  To be honest, I have had a difficult time finding the right words to describe what we have been feeling.  We are working at grasping what getting Lucy’s diagnosis means.  Since I last posted we saw Lucy’s neurologist.  She discussed with us what she thought of Dr Shoffner’s report, she agreed with his recommendation to start Lucy on on the Lecovorin as well the mito cocktail.  She also discussed the results of Lucy’s EEG.  Seriously, I was kidding when I wrote about  her EEG coming back abnormal because she had a tantrum when they placed the leads on her head, but abnormal findings are what we have.  We discussed doing a 24 hour ambulatory EEG in the next month or two to get a better idea of what Lucy has going on inside her head.  We all agreed to give Lucy a break from the hospital setting as well as any testing for the next few weeks,  she deserves one! 

Since her neuro appointment I have spent A LOT of time trying to get Lucy the medications she has been prescribed.  You would think that I could just go to the pharmacy, drop off the scripts, and pick them up when they are filled, think again.   Lucy has been prescribed a very specific brand of CoQ10, she can only use this brand as it is the only CoQ10 that is absorbed correctly in mito patients.  Of course our pharmacy does not carry this brand, we need to go through the process of having them supply it so that insurance will pay for it.  We need letters of medical necessity for the CoQ10 so that insurance will cover the cost of the medication.  Dr Shoffner’s office has sent us the needed documentation for our insurance, now we need to contact our case manager at Blue Cross and have her do her job.   We have also had issues with the Leucovorin, it comes in two forms a pill and an injectable.  After many conversations between her doctors and the pharmacy, it has been decided that we will use the pill form of the Leucovorin which means that we will need to grind the pill into a fine powder, dissolve it in water, and push it through her g –tube three times a day.  I ordered a pill grinder from a medical supply company, hopefully we can start Lucy on the Leucovorin just as soon as our pill grinder arrives.  Live and learn, right!

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On a totally different subject, Sophie celebrated her fourth birthday last Wednesday!  Four, oh my where has the time gone?  Sophie had a very royal (and very hot) birthday, she celebrated her day at Dutch Wonderland a local children’s amusement park.  Sophie is growing up and is a very beautiful, courageous, strong willed, very funny,  intelligent, determined, loveable little girl!  Her fourth year has a lot in store for her and we are looking forward to experiencing with her all that life has to offer her!

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The last few weeks have been full of events and activities in our house, again another reason for my lack of blogging.  We have been to museums, parks, pools, playgrounds, gone on picnics, the movies, the beach, eaten numerous ice cream cones, had our fair share of pizza, visited the inner harbor in Baltimore, went to Erie to visit family, biked, walked, strolled, and scooted around our neighborhood.   We are learning to adjust to Lucy’s needs and adjusting our daily life to fit her needs as well as meeting the needs of our other kids.  We avoid the heat as best as possible,  allow her to sleep as much as her body requires, and keep her daily routine as routine as possible.  Some days are better than others, but hey live and learn.  We have done our best to eek out the last few weeks of summer before the kids go back to school tomorrow!

Antibiotics are a Good Thing

We are all singing the praises of antibiotics in our house this weekend!  Lucy is feeling better than we have seen her in a while.  Her mood is better which makes all of us feel better even me who has been sick all weekend.  The moment we left the hospital on Friday afternoon I told Drew that I was wiped, little did I know how wiped I was.  I woke up Saturday morning with a fever, feeling achy all over, and feeling like I swallowed a golf ball.  I spent Saturday afternoon in urgent care where they diagnosed me with strep throat and sent me home with antibiotics.  After sleeping most of the weekend, drinking plenty of fluids, and three doses of antibiotics, I am feeling much better.  The moment I announced that I was feeling better tonight everyone in our house cheered, especially my husband.   He deserves a medal of honor for all of his energy and efforts given to our children and house this past week! 

Tomorrow is another big day, I have a weeks worth of household responsibilities to catch up on and an appointment with Lucy’s neurologist.  We are going to discuss how we are going to start Lucy on the mito cocktail.  I also need to make a call to Lucy’s GI doctor to get some advice on how to control the granulation tissue that is growing back around her tube.  From what we understand granulation tissue is the body’s natural response to a foreign object in the human body.  I am hoping that we can figure something out so that we don’t have to reapply silver nitrate to control the tissue.

We are going to try to catch our breath and enjoy the last few weeks of summer vacation before school starts again.  The weather here is extremely hot so anything we do is going to have to involve staying cool.  I predict that we will eat our fair share of ice cream and popsicles in the next few days, which will certainly make Jack, Megan, and Sophie very happy.  Drew was planning on taking some vacation time this week but after last weeks unexpected turn of events we are going to have to reevaluate our vacation time.  Drew works for an incredibly generous company who have said to him time and time again to take what ever time you need.  He has been able to do this but at the same time he needs to get done the same amount of work. We will hopefully be able take one day this week  to make some memories and go on adventure with the entire family.  

Home Sweet Home

I am happy to be typing to you from the comforts of my own bed!  We are so happy to be home!   All of our children are nestled sung in there beds(well except for Sophie who has popped out of bed at least a half dozen times tonight) and I too am going to do the same just as soon as I tuck Sophie in bed again.   Good night, sleep tight!