This is why I haven’t had time to blog…

May has been a busy month for appointments, activities, meetings, and random things that don’t normally occur on our calendar but have this month for one reason or another.  We have had A LOT of appointments recently, so many that I made the decision to cancel one of them this week.  We were scheduled to meet with a new GI who has some experience with mito, but after thinking about it, Drew and I felt that we could hold off on seeing this specialist just a little longer.  In all honesty, the thought of retelling Lucy’s lengthy medical history to a new specialist was just too much for either of us to take this week.  Going to appointments for Lucy is not like taking one of our normal healthy kids to an appointment.  What I mean by this is that you don’t just go, treat something, and then come home and resume your daily living.  Appointments for Lucy consume every ounce of energy and brainpower that we have.  We don’t just leave appointments for Lucy and go on with daily living, daily living is what gets altered after we leave these appointments.  Lucy has a chronic progressive disease that has no cure… yet, we understand this. However, somewhere deep down inside I am silently hoping that one of her many doctors will say to us “we can fix that”.  It is different going to appointments with a chronic child who has a progressive degenerative disease.

Weight gain has been a life long battle for Lucy.   She has not gained in several months, and now we are talking about what we are going to do if this continues.  We are considering trying Erythromycin to help speed up her motility.  Erythromycin is an antibiotic that has the added benefit of speeding up motility.  We are fearful to mess with the bug world by using a common antibiotic when we don’t really need it to fight off any infections.  It will destroy all of the good gut bacteria that we have worked so hard to provide her through all of the breastmilk.  For right now it is an option, and options mean that we still have another choice.  We are hoping that by getting Lucy’s bowels emptied more regularly we can increase her feeding rate, and in turn give her the extra calories her body needs to grow.  I am thrilled to say that after over a month, we have our girly going almost daily this week!   Yes I am celebrating this, you would too if you were using three times the daily dosing of Miralax to get your little one to produce any results.  I could say something cliché like it’s the little things, but this is HUGE so that saying just doesn’t apply here. I have been playing around with her feeding rate, increasing it at times when I know she has been off of her pump for a while and has had time to digest, and decreasing it when she is showing signs that she has had enough.  This week we are not seeing the bile backup in her tube that we were seeing last week.  Lucy was “off” last week and we could not put our finger on what it was. Whatever it was it appeared to slow her entire body down, digestion and all.

Our road to getting a diagnosis has been a journey to say the least.  We have a mito diagnosis, but no genetics which tell us where a mutation exists.  Mitochondrial disorders can either be primary, which is what Dr. Shoffner believes Lucy’s is, or secondary meaning the mitochondria are affected as a result of another disease.  In order to rule out the possibility that Lucy could have a secondary mitochondrial disorder due to some other unknown genetic disease we went to see a geneticist at DuPont, different from our metabolic geneticist.  We did this based on the recommendation of Lucy’s metabolic doctor at CHOP.  At first we thought why should we do this, but after talking it over with Dr. R we agreed that it was worth our while.  We all think that it is a shot in the dark if it is something other than primary mito, but testing Lucy’s blood for any other abnormalities that fit her list of symptoms seemed relatively simple compared to all of the other testing she has had in her life.  Lucy is so used to lab draws that she knows and understands that she has to do them, but know she does not like it!  When it’s all over she expects not just one sticker, but as many stickers as her little hands can hold for the torture that she has just had to endure.  The ladies at the DuPont lab who have drawn a majority of Lucy’s labs are so loving towards our girly, they would give her the entire sticker basket, that is if I would let them.  This time they even threw in a roll of pink tape that Lucy cried for, what can I say… adhesive products make our girl happy. 

On Tuesday we spent the entire day at DuPont. It was a very productive day as far as appointments go.  I mentioned earlier in this post that there is no cure yet for mito, but we have things that we can do to help alleviate some of the symptoms.  Doing everything we can to make Lucy’s quality of  life a little better is worth every minute we spend discussing options for her at all of these many appointments.  We began our day at 8:30am in orthopedics where I kept hearing Jack’s voice in the back of my mind saying to me “Mom it is better to be patient than proud”  he has been learning about this.  “Really?”… I kept thinking to myself.  I tried my best to be patient but we did not get called back to a room until after 10:00am and we had another appointment scheduled at 10:30 with augmentative communication, an appointment that we had been waiting for for over five months.  Lucy had her hips scanned first since it had been over six months, and again we learned that they are shallow.  Her new ortho, Dr. G , told us that he does not recommend surgery for Lucy. That was a relief to hear since we didn’t even think that was an option.  Really, the only thing we can do for her is to continue to keep up her muscle strength, aka more therapy. He did not agree with hip bracing Lucy at all since it would take away from her hip muscles doing any work, I guess we can send the orthotist back the Squash hip bracing system, yeah.  He does want Lucy to be casted for a new pair of orthotics, he wants her to be using a wrap around DAFO from the Cascade Company for more stability.  Lucy’s PT and I had already discussed the need for new braces for Lucy and we too were looking at Cascade braces  because they are made of a super light weight plastic.  He commented on the severity of her hypotonia, saying that she is more severe than moderate, and also how she is weaker on her left side than her right.  He noticed this right away, something we have been wondering about all of her life.  Again we don’t know why she is weaker on her left side, but he noticed it too and so that clears up another question in our minds.

Next on our agenda was our long awaited appointment with augmentative communication.  I will write about this in a separate post tomorrow as this is getting to be quite long, and…well… frankly our augmentative appointment deserves a post all it’s own! 

Thanks for reading this far, it’s late and I am going to bed.   

Still here…

I will update soon, but I just wanted to let you all know that we are still here.. just been a little busy.  Lucy has had some productive appointments recently, and I want to share some of the details of those soon.  For now I am off to dreamland…that is until Lucy wakes me up.

Music, a family affair…

We had our marathon of end of the year music classes last week.  Lucy’s family music class was on Tuesday night.  Seeing how far she has come since September is simply…amazing!  I wanted to pick her up on the first day and cry right along with her… it was so obvious to me on that day how very “different” she is from her siblings and the other kids her age. We stuck with it, and I am very proud to say that she and I, together, have come a long way!

Sophie had her family music class on Thursday afternoon.  She loves it when we are all involved in making music together as a family.  When Sophie LOVES something it shows with every fiber of her being! 

Jack and Megan had their pizza party and recital on Thursday as well.  We have been involved with the Hockessin Music School for almost NINE years!  Jack has successfully graduated from the birth to nine program, and if I had realized this before he played this last recital I may have been more teary eyed than I already was watching him play.  He made his mama proud as he played all three of his recital pieces at the piano.  Memories of Jack as a baby were in my mind Thursday night, as well as memories of Megan, Sophie, and Lucy too.  All of our kiddos have “grown up” in the program,  it is pretty amazing to see the progress each one of them has made through the years.

Megan did awesome!  She has a very different practice style from Jack’s.  Let’s just say she is a bit of a perfectionist(not sure where she gets that from:), and doesn’t allow Mommy to help her when she is in the midst of figuring out something .  

Sophie has attended more music classes, by nature of her birth order, than any of our four kiddos.  As a result the girl has a very well trained ear and is almost always humming or singing a song.  Sophie spent most of our Thursday afternoon (all of two hours) at home trying to learn a familiar music class song, All the Little Ducklings, on the keyboard while I was busy meeting with our Early Intervention nurse coordinator.  She would run back and forth from the keyboard to our family room and ask if I heard her.  I didn’t realize until later what she was up to, after all of the kids were done playing their recital pieces Sophie asked if it was her turn.  She was practicing for the recital.   She wowed us all with her piano playing abilities.  Megan was so impressed she left this note for Sophie the following morning:

This too makes a mama and a daddy so proud. 

Wise Guy….

We were hurriedly loading our kids into our van tonight in an effort to avoid getting poured on by the immanent storm (who am I kidding, there is not such thing as hurriedly loading our kids into our van:), when I noticed the time.  We took the kiddos to a concert at their school, and then out for dinner at a local pizza shop.  It was already 8:47 pm!   Late, but recently not too unusually late for our crew.  Nonetheless, I said out loud…

“Oh, where does the day go?”

Jack replied very matter-of -factly…

“Ah, Mom… to the other side of the world.”

Always a wise guy!

Catch Up…

That is what I have been doing most of the day since I took the weekend off…o.k., more like took a mini vacation from doing any house work.  Oh well, it was fun while it lasted. 

I will also attempt to try and catch you up on some of the medical things that have been going on around here…

Lucy is recovering from her drop in glucose; however, she has been sleeping A LOT (20+ hr/day) since that happened over a week ago.   Other than her excessive sleepiness, she appears to have maintained all of her skills, thank God!  I was able to order her some new extension sets, but they have not been shipped yet, something to do with insurance…ugh.  In the meantime we have been taping the heck out of her tube so as not to have another experience like the one we had.  I spoke with a company that sells bedwetting alarms and described our situation, we are going to look into a clip on sensor as opposed to a bed pad.  Apparently the bed pads are extremely sensitive and will alarm if a child is an excessive  sweater, AKA Lucy.  That is the last thing we need, an alarm to alert me to when she is sweating.   Recently, when Lucy has woken in the night, I  have seen her trying to disconnect her feeding set from her extension set.  She doesn’t quite have the hand strength to do it herself, but I wouldn’t underestimate her!  She often “asks” me to disconnect her when she has had enough, she’ll hold her tube in her hands and cry.  Perhaps this is what she did that night?  We have noticed that her tube is backing up with bile more frequently, indicating that her digestion is slower.  Maybe she is experiencing more discomfort than usual and she took matters into her own hands, who knows?  As always with Lucy, some days are better than others.      

As for appointments we have had our fair share of them recently.  We met with Lucy’s endocrinologist for the first time since her growth hormone studies last June.  At that time we were all waiting to get back the results of Lucy’s muscle biopsy before moving forward with trying to figure out the cause of her hypoglycemia.  Now that we know that we are dealing with mito her endo. believes that we no longer need to pin point a cause for her hypoglycemia because he feels that her issues are related to her mitochondrial disease.  For now we continue doing what we have been for almost a year,  22 hour/day continuous feeds!  We had an appointment with Lucy’s neurologist recently and overall she is pleased to see how Lucy is doing.  She briefly evaluated her gait and agreed that we should see ortho about her hips, we are scheduled to see them on the 25th of the month.  We also agreed that the time has come to do a sleep study,  we are probably looking at doing this sometime this summer.    We had an appointment with Dr. R at DuPont who has agreed to manage all of Lucy’s mito needs.  We are currently in the process of having him listed as her PCP for Medicaid.  We are optimistic that this will happen soon! 

Appointments, appointments, and more appointments are in our future. We are scheduled to see genetics, a new GI specialist who has experience with mito, orthopedics, an augmentative communication specialist, nutrition, and Dr, R again all in the next few weeks.  I will write more about these when we have them.  We want to get all of these appointments done before the kids are off for the summer, so that we can just enjoy spending time together as a family.

Happy Mother’s Day!

I just wanted to send a shout out to all my mothering friends and family and wish you all a Happy Mother’s Day!

 

I spent my day doing what I do best…being a wife and mommy to five of the most inspirational, emotional, creative, demanding, adorable, fatiguing, motivating, and loving people in my life.

Surprise!

Do you remember, all you faithful blog readers, way back in December when Drew surprised me with a blog makeover for Christmas.  He even posted on our blog to let me know about his present to me.  I know what your thinking…sorry ladies he’s mine:)  I had been admiring other people’s blog designs for quite some time, and would often comment on how I liked this or that person’s design.  Lo and behold I started noticing that many of the blog designs that I liked were done by a designer who calls herself  the Design Girl.  Danielle is a very talented and patient designer.  Everything was done via e-mail, and lord knows I am not the most diligent e-mailer.  We have a few revisions to make to the design, but this is essentially it.   

The photos in our header are another something special!  In December our family was given a very thoughtful and generous gift… a gift of memories.  We are so blessed to be living in a neighborhood surrounded by so many who care!  Several of our neighbors felt compelled to do something for our family.  Donations were given by our neighbors, that were then used to hire a very wonderful and talented photographer, Gretchen Johnson.  Gretchen’s passion and energy are apparent  in the photos that she takes. She took so many beautiful photos of our family that it has been difficult selecting which ones we want to make into keepsakes. All of the photos in our header are from our session(s) with Gretchen.  We think that she really captured the essence of our family.  I can think of no better gift to give a growing and ever changing family than a gift of memories. 

We feel so loved, honored, and blessed to be able to share our life with so many of you who support our family with your thoughts and prayers.  We dedicate this post to all of you who have been such a support in our lives.  Enjoy!

Love,

Oh,What A Day!

(I wrote this late last night and am just now getting to posting this.)

I woke this morning feeling a bit panicky.  You see, Lucy slept through the night last night, for the first time in…well, I can’t even remember when.  Drew and I were getting the kids ready for school when I told him I was worried since I did not hear from or see our little night owl since she went to bed at 10:30pm the night before.  Yes, we are having some issues with getting her to fall asleep once we put her down(this topic could be a post all it’s own).  Drew joked with me and told me I should be feeling rested and relieved.  After all, this was the night I have been dreaming of (pun intended) for a long time, or maybe not? 

After sending Drew and the kids off for the morning, I quickly checked some e-mail, threw a load of laundry in the washer, and took a shower.  Lucy was still asleep when I got out of the shower, normally the shower wakes her up.  I kept listening for her on the monitor, but heard nothing.  My heart was telling me something was not right.  I went in her room to wake her for therapy at 9:40 am and I instantly knew she was in trouble, I could smell it!  Sometime during the night her feeding tube came disconnected and I found our girly covered in green bile and formula, this hasn’t happened to us since getting the Mic Key system.  After a frantic search for her glucometer and the phone, I stripped off all of her clothes and put her in the bathtub.  She was obviously floppy and bluish in color, not good signs.  I checked her glucose and found it to be 22, yikes!  I called Drew to tell him what had happened and that I needed to call her doctor, only which one?  You see, we are in the midst of establishing a new mito doc for Lucy.  On Monday, we had a very productive appointment with Dr. R at DuPont and he agreed to be her main DuPont doc and was very willing to work with our existing pediatrician.  I called our existing pediatrician to give her a heads up since she has dealt with us on these types of issues.  She felt it was best to take Lucy to the ER, but to give Dr. R call and let him know what had happened.  If only I knew Dr. R’s number without having to search for his card in the abyss of all of Lucy’s medical records.

In the meantime Lucy’s PT arrived minutes after all of this began.  I was frantic to get Lucy bathed, fed, and dressed, and Ruth was more than willing to assist me in whatever I needed.  I finally called Dr. R’s office and they had him paged.  I checked Lucy’s glucose again shortly after nursing her, bolusing her a feed, and hooking her back up to her feeds.  Her glucose level was much higher 63, but still below normal.  Dr. R and I discussed Lucy’s status, color, tone, etc… and current glucose level.   He wanted me to wait and see how she was tolerating her feeds and after an hour call him back with an update.  I expressed to him that this was not our normal protocol, normally we bring her in for some IV D10.  In all honesty I was happy that he wasn’t pushing me to bring her in, but I was a little worried that he doesn’t quite know our girly as well as we do. 

As if it wasn’t crazy enough this morning, Ruth had scheduled for an orthotist  to come during her session time with Lucy to fit her for a hip bracing system that she thinks could help Lucy strengthen her weak hips.  Ruth tried calling the orthotist to let him know what was going on but was unable to get a hold of him.  He showed up at the very end of our PT session when Ruth was leaving.  Lucy was still pretty floppy and just laid on the floor while they attempted to brace her and get her to stand.  Yeah, that was not going to happen today!  At this point I realized that I had to leave to pick Sophie up from preschool as it was 11:30 and she was done!  We wrapped up our not very successful PT session and left to get Sophie.  At this time I was surprise to see that Lucy was perking up a little, but still floppy. I checked her glucose one more time and she was now at 73, one number shy of being at the low end of normal. 

I picked Sophie up from school just a little late, and proceeded on with our day.  As long as Lucy was on her pump I thought we should go on with our normal Thursday activities.  Sometimes it’s easier if we are out and about when Lucy is on her pump, she likes to sit in her wheelchair and experience the world around her.  She is content to just sit, and that makes feeding her just a little easier.  After getting Sophie settled into ballet I called Dr. R back to give him a status update.  I told him that her glucose levels are up from the 22 she was at when I first checked her this morning to 73 at last check.  This is when he said, I thought you said her level was 63.  It was, when I called him, but it started out at 22.  His response, “Oh, 22 is low I would have had you come in for fluids right away!”  He congratulated me for getting her numbers up so quickly, and then said that he understood why I was hesitant about his lets wait and see plan.  He explained to me why Lucy was bluish in color, her cells were busy trying to keep her body running and they did not have enough energy to go around.  He also explained that the green bile was because her intestines were slowing down and that green bile is what happens.  Oddly I felt better knowing that he would have responded the way that I initially felt he should have.

Ironically, we had an appointment on Wednesday with Lucy’s endocrinologist and we discussed Lucy’s fasting intolerance and hypoglycemia.  We all agreed that now that we know we are dealing with mito, putting Lucy through a fasting study is not really necessary.  In the future we may want to see just how long she can go without food, but for now we are certain it is not very long!   

I am purchasing a bed wetting alarm system for Lucy that will alarm when it detects any moisture.  I have also gotten some great advice from some mommies of other tube feeders.  Apparently, there is an extension set that is better than the kind we are using for Lucy, they don’t disconnect as easily.  You can bet that I will be calling our HHC to get some of those babies shipped out to us first thing Monday morning!