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!

From this moment on our lives have changed forever….

I have been sitting here staring at the screen wondering how I am going to word this post and even what to title it….

After nearly a year of searching and wondering, we finally have our answer.  This is the first time that I have ever written this… Lucy has been diagnosed with mitochondrial disease.

We are feeling all sorts of emotions and  need some time to figure things out.  I  will post more later.  Please keep our family in your thoughts and prayers are we begin to grasp what getting this diagnosis means for Lucy and our family.

Weight Check

I am happy to report that Lucy is gaining not losing weight, albeit every so slowly .  I wish someone would tell me I’m not gaining weight  fast enough!  Lucy did lose weight post surgery, but has gained back what she lost plus an ounce or two!  Nonetheless, we need to get Lucy gaining a little faster.  Lucy has  moments during some days where she tolerates a higher feeding rate and moments where you just need to  slow down the rate or shut off her pump and give her a break.  In the beginning when we started all of this enteral feeding stuff it was not always easy to know when she has had too much.   Now, months of experience has allowed me to pick up on her “I’m too full, my belly really hurts me” cues.  Lucy can’t verbally tell us that her belly really hurts her, but can express herself quite clearly without words.  When she is full she has a very distinct cry/scream, she will often slow down and lay on her back, and or lay on me and just plain be miserable.  She can get fitful(no pun intended) when she feels full,  it is difficult to find ways to comfort her when she gets like this.  I wish we could avoid these moments all together, but unfortunately we need to try and push the rate on Lucy’s feeds to see is we can’t get her gaining a little faster.  We are going to give it another month and see what we can do about her feeding rate.  If this doesn’t work then I think that we are going to discuss converting her G tube into a J tube.   Lucy is unable to tolerate bolus feeds, this is where you push several ounces of food with a syringe into her tube every few hours, so she is on continuous feeds with her pump approximately 22 hours a day.  The down side to J tube feeds is that you can only do continuous feeds, but since that is all we are currently doing with Lucy than I think that this might be an easier option for her.

A long overdue update…

I know, I know I have been slacking in the blogging department.  I plead the fourth, that is four kids that are keeping me busy with camps, activities, medical appointments, and just life in general. 

I’ll start by updating on Lucy since her life is weighing the heaviest on my brain right now.  On Tuesday we had our repeat swallow study at DuPont with one of their senior speech pathologists who has experience with aspirations and breastfeeding.  I’ll just cut to the chase, the results from this study were the same, possibly a little worse than the first swallow study.  We confirmed again that Lucy silently aspirates all thin liquids even thickened liquids.  She did do better when lying down at a 45 degree angle which is similar to the position that she nurses, but she still aspirated after forty swallows from a Haberman bottle.  We learned that Lucy has a delayed swallow, she does not swallow until she has too much in the back of her mouth, which is contributing to her aspirating. We were told that this combined with her hypotonia are contributing to her swallowing issues.  Here’s the kicker, this speech pathologist advised us to stop breastfeeding as well.  Her fear is that Lucy could possibly be aspirating small amounts of breast milk every time she nurses, thus compromising her lungs and putting her at risk of having another aspiration pneumonia. Her fear is that kids with low tone who have repeated aspiration pneumonias are at greater risk of not recovering from the illness, possibly requiring a trach.  Yikes!    

We are disappointed, to say the least, with the results and recommendations from this study.   Lucy is a breastfeeding addict, because of this we have been modifying her nursing since we were given the results from the first study.  I have been pumping and then bringing Lucy to nurse on an empty breast. This way she is receiving the comfort and security she longs for but not the milk.  She does not seem to mind that there is little to no milk flowing when she is nursing, again another plus to her lack of appetite.  Very often Lucy comes to me to nurse for just a few seconds at a time when she is in a stressful situation, it’s her way of asserting her power and finding comfort when she knows she has very little.   I had the speech pathologist listen to Lucy when she was nursing to hear for any changes in her breathing and swallowing, thankfully she did not notice any problems. She observed that Lucy does very little swallowing when she is nursing, indicating that she is receiving very little milk.   Still there is really no good way of knowing if she is in fact aspirating when she is nursing.  We are going to need to work very hard with Lucy to find alternative ways of comforting her, this is NOT going to be easy, but hopefully she and I will learn.  I am feeling very defeated, but I will of course continue to pump and provide Lucy with as much breast milk as possible through her tube.   Got breast milk?  I am on a mission to find some lactating mamas' who are interested in donating any of their extra milk.

Yesterday and today we were at DuPont again to find Lucy some adaptive equipment that will hopefully make her life and ours a little easier.  I have been initiated into the world of special needs equipment, holy moley I had no idea that they had so many options available to us!  I was equally amazed and overwhelmed with what insurance will cover and all the restrictions and limitations that go along with that.  After weighing the pros and cons of  several systems, we are going to be getting Lucy a seating device that will support her trunk better when she sits thus allowing her to use both of her arms without using one arm for stabilization.  This seat has a combination hi/low base for indoor use as well as a pretty cool looking stroller attachment for use when we are out and about.   Lucy is small and still fits in most of her baby equipment, but despite her size she is growing up and wants to be more independent and interact more with her surroundings.   That being said, today we fit Lucy for a teeny tiny walker which will help her to get up and moving as much as her little heart desires!  I was not sure how she would react to using a walker and was VERY pleasantly surprised when she grabbed on and put one foot in front of the other.  We trialed both posterior(a walker that you pull behind you) and anterior (a walker that you push in front of you) types.  For Lucy it was more natural for her to use an anterior walker, she kept trying to turn around and push the posterior walker.   Lucy took to walking with a walker fairly quickly, she would walk a few steps than sit down to take a break.  At one point she pushed a walker out of the door of the therapy room and part way down the hall before she wore herself out.  She was so darn proud of herself and she smiled so big that her binky fell onto the floor.  After weighing the pros and cons of the three different walkers we trialed today we decided that the anterior walker with two wheels on the front and stoppers(now tennis balls) on the back was the best option for Lucy.  Unlike her adaptive seating system we ordered yesterday that will take three to four months to get, we were able to bring home her new walker today.  Now that it is in our home, she is not as interested in it as she was at DuPont.  Perhaps she saw the walker as a means of high tailing it out of the hospital and that is why she took to it as well as she did.

Today we have an appointment with Lucy’s GI nutritionist,  I am not expecting any surprises from this appointment it should be a routine weight check and eval.  We have had a whirlwind of appointments this week, we are going to take a break from all the appointments for the next month as we are “officially” taking a summer vacation!  We have a lot of things to cross off our summer fun list.  Of course if  Lucy or one of the other kids gets sick we will address the issue, but hopefully we don’t get sick of vacation.

Jack, Megan and Sophie have all been busy with various morning camps the last two weeks.  I organized a very complicated schedule of who’s going where on what afternoon this week with several of our friends.  Without the love, support, and hours of babysitting these friends have offered us we would be more insane than we already are!

P.S. I will post a slew of pictures just as soon as I charge the battery on our camera.