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! 

We’re still here but…

Here, meaning in the hospital but hopefully not for much longer.  We are still here because Lucy’s first culture grew positive for staph aureus, aka MRSA , in addition to the strep A bacteria.  We are waiting to get the results back from her second culture to see if that too grows the same staph bacteria.  Hopefully, tomorrow we will find out those results.  We had to switch Lucy’s antibiotic tonight to a medicine that will fight the two kinds of bacteria.  They were hoping to be able to administer a few more doses of IV antibiotics, but Lucy’s IV quite on us again and this time it was in less than 24 hours!  Thankfully we were all in agreement to switching  her to oral antibiotics instead of torturing her by placing another IV.  She is a very difficult stick , on top of that her veins are shot from her last admission at CHOP. 

We had her EEG done this morning which will hopefully come back normal.  If it doesn’t I wonder if acting like your head is going to be severed from you body just minutes before having the test preformed can have any effect on the results.  If so, than that could be a reason for the abnormality.  Oh my did she ever carry on and on and on… I can’t blame her one bit, she has been through way too much!

Now for the best part of this post, Lucy appears to be feeling better.  She is acting silly again and doing more smiling tonight than crying, hooray!  Her stoma looks better, not great, but better than it did even this morning.  It’s still oozing but not as much as it was even this afternoon.  These are all good signs that the medication is working.  If she continues doing this well, we should be discharged tomorrow and sent home on oral antibiotics!   I have packed our bags every morning this week in anticipation of going home, I think that’s a bad omen.  Instead, I will wait until I sign the discharge papers to pack us up.  Hopefully I will be able to update you from the comforts of our own home!  Thanks again for your continued support, your thoughts and prayers mean so much!

Aaahhh….choooo….

  

 

 

So funny!

What day of the week is it again?

You can really loose track of time when everything you need to do revolves around someone else's schedule.  This afternoon Lucy’s nap was not as long as I hoped it would be, who was I kidding, nobody sleeps when they are in the hospital.  We met with the infectious disease team this afternoon.  They took a look at her site and even commented on how “oozy” it looked.  They are concerned that the strep bacteria could stick to her current PEG tube, and despite giving her antibiotics the strep could return because it is on the tube.  Just when I was celebrating yesterdays victory we are again faced with the possibility that this tube may need to go.  I am going to take the wait and see approach with this one, the infectious disease folks are not so much the optimistic types.  I understand, being realistic just goes with their territory.  They were also leaning towards staying on IV antibiotics for 48 hours vs. 24  hours.  This means possibly having to stay another night, ughh.  Speaking of IVs, we had to place a second one tonight because when we administered the first does of antibiotics her IV quite on her, big surprise.  Right away Lucy made it know what had happened by screaming out in pain.  Apparently the medicine has a burning feeling when it touches the skin, and after the silver nitrate experience today lets just say she has had her fair share of burning sensations for one day.

We had a visit from our neurologist today.  She came up to see us and discuss briefly Dr. Shoffner’s report.  We were able to discuss some thoughts on what to do next.  She is going to look into getting Lucy started on the mito cocktail.  We discussed starting each medication individually to see how she responds, if all goes well than we will be able to compound all the meds into a “cocktail” of sorts.  She has seen great  improvement in some patients who have been on some of the supplements in the cocktail, specifically CoQ10 and carnitor.  She is also onboard with starting the Leucovorin for treatment of the cerebral folate deficiency. We will see her in clinic on Monday to discuss further what Lucy’s needs might be in the future.  As for her immediate future she has ordered a EEG of Lucy’s brain tomorrow to see if we can detect any changes from her last EEG in September.  Lucy appears to be having a type of seizure known as petit mal seizures, brief staring spells.  Drew and I think that she has been having these types of seizures her entire life but now that she is older they are becoming more obvious to us.  Dr. Shoffner commented to us that it is very difficult to detect these types of seizures on an EEG or even a 24 hour EEG ,but just because you can’t detect them does not mean they are not happening.  Our nero agrees with Dr. S but does feel that doing an EEG could still yield valuable information when you compare her two results.

Drew and the kids came and had dinner with us tonight and boy were they a sight for sore eyes!  I know they feel so much better seeing where Lucy and I are staying.  They are always full of questions when they come and when they leave.  They picked out balloons for Lucy in the gift shop as well as a stuffed doggie because they know that Lucy loves balloons (Sara,if you are reading this she signed the word bubble for balloon;) a doggies. 

Well that about sums up the rest of our day, time for me to go to sleep.  I’ll update again tomorrow.  

Just when we thought we were going home…

After another restless night of sleep we woke this morning looking forward to going home and sleeping in our own beds.  Plans were being made for discharge when our pediatrician came in and said “there’s been a change of plans”.  Lucy’s culture of the inside of her stoma grew positive for strep bacteria.  We are now going to start her on a course of IV antibiotics .  Our pediatrician is consulting with the infectious disease team here to see what antibiotic they recommend and how long they recommend her to be on the IV antibiotics before we can switch to oral antibiotics(via PEG tube for Lucy) and go home. 

Surgery came in at noon and took sliver nitrate to the tissue that was coming out from Lucy’s site, yikes was that every painful!  That procedure was the last straw for Lucy, she announced loud and clear that she is done, done, done, with people doing things to her!  They ordered her some Motrin for her pain, and I gently patted her to sleep.  I feel like a mama pit bull right now, guarding the door for fear that someone will wake my sleeping baby.  Hopefully, she will sleep most of the afternoon. 

Drew is home with the other kids today, which is a very good thing.  Megan needs a nap, Jack is tired too but won’t admit it, and Sophie is in dire need of spending time with daddy.  He and the kids will come here tonight and have dinner with Lucy and me.   I can’t wait to see them, I miss them.   All of these hospitalizations and attention focused on Lucy is taking a toll on Jack, Megan, and Sophie.  They are AWESOME  kids, but they are kids and they are reacting to all of the stress in our lives too.   Megan had a fit this morning because she did not have any clean underwear to wear.  Drew put a load of laundry into the machines so that Megan would have some clean underwear to wear soon when she carried on and said “but daddy mommy fired you from ever doing the laundry!”  He knows and I know that she was not really upset about not having clean underwear, she could care less at times if she has on clean anything, she misses mommy and wants our family to back together doing what we do “normally”.  These are the times that make “this” so “real”.

Save the Tube!

A lot has transpired throughout the course of the day which has made it difficult for me to post any updates. Surgery came back again this morning and took a look at her tube site. They verified that it must be in her stomach because when they opened her port it leaked stomach bile. What we were unsure about was whether or not the tube was pulled partially out of the stomach. In order to determine this a dye study needed to be performed. This study is done by injecting barium through her tube and then scanning her belly to get a better picture of the inside workings of the tube. We had the dye study done at 3:00 pm, and good news everything looked like it was where it should be. Now here’s the problem, her tube site is obviously very sore, oozing “yucky” stuff, and has tissue growing out of it, disgusting I know. One of surgeons came by and took a look at her site and agreed that she could have pulled her tube just tight enough that it is causing her pain and discomfort. He loosened the T-bar that holds the tube to her skin being careful not to loosen it too much for fear that it could leak food. There are several theories behind the tissue that is coming out of the stoma one is that it could have been pushed out by just the slightest tightening of the tube, or two it could be that perhaps the tissue is a very very red granulation tissue. In any case, all of the scenarios mentioned have ruled out the need to replace her tube, hip hip hooray!!!
We are relieved that it appears that there is nothing inherently wrong with her tube, but regardless something doesn’t seem right with our girl. Lucy has just not been acting like her normal self. All who have seen her agree that she is not looking or acting like the little Lucy we know and love so much. We are waiting on cultures to see if she has an infection of some sort. The plan for now is to start her back on her feeds tonight and see how she handles it. They want to monitor her over night to see how she is doing in the morning. Our hope is to be back home sometime tomorrow, because you know there is just no place like home!

G Tube Trouble and/or Something Else?

Well it’s 2AM and I am writing to you from room 3 at the DuPont ER. We have been here most of the night trying to figure out what’s going on with Lucy. She has been “off” recently, very irritable and sleeping excessively 18 to 20 hours a day! She is experiencing pain around her tube site, and oh my if you saw it you would know why. It does not look good, some tissue has oozed out from the stoma site as well as some blood and green gooey stuff. I am well versed in the medical terminology used to describe Lucy’s condition, but honestly these are the terms that the doctors and nurses are using to describe Lucy’s stoma too. For those of you G tube experts out there, they do not think that it is granulation tissue. On Saturday she pulled on her site while crawling, and now we suspect that her tube has come partially out of her stomach, but not through the stoma. We did x-rays tonight to see if they could detect anything abnormal with her site, unfortunately that is not the best way to detect if in fact it has pulled out from her stomach. We need to do a dye test tomorrow to really get a good look at what it looks like on the inside. Good news however, her chest x-rays looked great. The fear that she could possibly have another aspiration pneumonia has diminished. Tons of labs were drawn to look for any abnormalities, so far what has come back abnormal are what we always have come back abnormal. I guess you could say they are normal abnormal labs for Lucy.
We have been admitted tonight and will have more tests done in the morning to see if we can’t get to the bottom of what’s going on. Surgery is going to come and take a look at her site as soon as possible. As for now, she is hooked to a D10 solution and not being fed via her tube until we figure out what’s going on with it. We’ll see what tomorrow brings. Lucy is sleeping now and Drew went home to get some zzz’s as well as some supplies for Lucy and me. The kids are sleeping at the Puff’s tonight and we feel comfortable knowing that they are in loving hands!
Update 3:45am:
Surgery just came in to see her and they want a scan with contrast done first thing in the morning. If in fact her tube is pulled out than they will need to place a new one. Ughh…

Where do we go from here?

First off, I want to thank all of you who have reached out to us this past year, particularly these past few days. Your support is so valuable to us, I know that we would definitely be more insane without the love and support we receive from all of you! Getting this diagnosis doesn’t really change what we are doing as far as Lucy’s care goes. There is currently no cure for mito, there is something called the mito cocktail which is a very specific compound of vitamins and enzymes that are said to help assist the mitochondria function and possibly slow the progression of the disease. Lucy is currently not on the mito cocktail, we will discuss with her doctors whether or not they feel this will be beneficial to Lucy. The effects of this disease are very individual and no two mito patients present the same, this makes this complicated disease all the more complicated. As for Lucy we know what her specific symptoms are for now, and now that we have an idea what is causing these symptoms we can make better decisions regarding her treatment. Knowing a cause does help!

I have met many families this year who are living with mito, some much more severe than others. We are blessed in so many ways that our Lucy is really quite healthy in spite of all of her issues. I know now more than ever that this could change in an instant, and because of this we are really trying our best to LIVE life to its fullest. No we are not taking out our life savings and squandering it on some elaborate family vacation, rather we are taking extra moments to be more loving towards one another and to be grateful for the everyday moments that we have been given! I’m not sure when it happened or how it happened, I think that it was something of an evolution, but at some point we have settled into our new world of having a very “special” child. All of our children are special, each one of them makes our family what it is today and who Drew and I are as parents. We have learned so much from each and everyone of them; and sometimes, as in Lucy’s life, the learning curve is steep.

I know many of you must have questions about this disease, I know we do and we have been learning about it for quite sometime. If you have questions please feel free to e-mail us or post a question in the comments section at the end of this post. If I get enough questions and I have or can find out the answers, than I will write a special mito questions and answers post. Who knows maybe we can all learn a thing or two about this disease that is said to be more common than childhood cancer. I have found the United Mitochondrial Disease Foundations web site to be the most informative resource http://www.umdf.org for information on mito.

We were able to schedule an appointment on August 10th with Lucy’s neurologist. We are hoping that she will be able to help us formulate a more organized plan, if such a plan exists, for treatment of Lucy’s symptoms. She is willing to take the time to discuss Dr.Shoffner’s report in detail with us, for that we are so grateful. She is familiar with his reports as she herself has sent patients to him for diagnosis. In addition to the mito diagnosis Dr Shoffner detected, in Lucy’s spinal fluid, an abnormality in her 5-methyletrahydrofoalate level, which is considered a cerebral folate defect(CFD). He has prescribed folinic acid for treatment of this disorder. He does state in his report that “about 10% of patients with mitochondrial disease of various types and etiologies will have cerebral folate defects.” I promise this is about as technical as I will get with you right now, the report is lengthy and full of biochemical information and testing, all of which is very interesting but extremely scientific. We are going to discuss these findings with Lucy’s neuro before we start her on any medication, mainly because we don’t know very much about this disorder or the medication. Our metabolic group at CHOP has advised us to follow up with our neurologist as well, we have decided to wait to see our metabolic group until all of the testing comes back from Dr Shoffner. There are still tests out that will help further with the diagnosis, specifically DNA sequencing as well as several others. We have learned recently that two of the nation’s leading mitochondrial researchers are likely to be coming to CHOP. We are keeping our fingers crossed that all the negotiations for this go smoothly and that a CHOP mito clinic will open soon.

We have been on such a roller coaster ride this past year, and I feel like we have taken many of you with us on this ride. How are you handling things? There are days were we are just tired of the whole thing! It takes a toll on you, but like I said we have learned to value each and every day more in this past year than at any other time in our lives. I want very much to blog about less concerning matters in the future and hope to be able to do that soon! Lord knows we have lots of less concerning matters to deal with on a daily basis, just look at the piles of mail I have to sort through on my dining room table and the piles of laundry on my bedroom floor that need folding. I will get to these less concerning matters soon I hope, but right now my priorities are focused on my family. The laundry will still be there tomorrow in greater number mind you, and the mail can hopefully wait just a little loner!

P.S. The pictures are just random pictures from the past few weeks. They make me smile!