Sorry for the Lack of Updates

It has been challenging to put into words all the emotions and frustrations that we have been feeling around here lately.  On top of all of it Lucy has not been sleeping well, which means I have not been sleeping well!  We’re not sure what her problems are, but I do think that it is entirely possible that she is cutting some more teeth.  She is waking frequently, like every hour or so, and needs some comforting to fall back to sleep.  Because of her terrible nights she has been extra sleepy during the daytime, sleeping sometimes four to five hours during the day! 

We are still trying to figure out her up coming admission.  Not sure yet when this is going to happen.  Thank goodness we can afford to wait on all of this.   I have neglected to mention something else that has been thrown into this up coming admission.  Her metabolic doctor would like Lucy to undergo a fasting study.  I can’t remember if I wrote about this in December?  A fasting study is just that, they want to fast Lucy to see how long it takes for her body to go into crisis.  As soon as they see her failing they will draw labs in an effort to isolate what could be causing  her hypoglycemia.  When we discussed the possibility of doing a fasting study in December everyone agreed that she was too small for the quantity of blood that they would need to draw for the study.  She is a few pounds heavier now, but is that enough of a gain to subject her to this?  Naturally, Drew and I have questions and concerns for doing this study.  I called her endocrinologist last week to discuss with him our concerns.  It has been challenging, to say the least, to speak with him directly.  I did finally receive a call back from his nurse practitioner yesterday and she was able to get us an appointment for next Wednesday.  This sure beats the earliest  May14th appointment slot that I agreed to last Friday.  She agreed that we need to meet and discuss the situation before agreeing to do the study.   Our patience has truly been put to the test!

I am tired and I just put Lucy back to sleep so I am going to sign off for tonight.  I will keep you updated as we learn more.  Thanks as always for your love and support, we appreciate it!

Here’s the latest

Well the plot thickens.  Last Thursday I received a call from Lucy’s metabolic doctor, Dr. G.  She was calling to ask me about doing Lucy’s muscle biopsy.  We had a debate about where to have her biopsy preformed, she feels that it would be best to combine her PEG-tube procedure with her muscle biopsy.  This would eliminate her having to have two separate anesthesias.  We agree with her that it would be best to combine the two, but we feel strongly about Dr. S doing the biopsy as he only does fresh muscle biopsy and at CHOP they do frozen muscle biopsy.  From what we have read and understand, fresh is best if you have the option, and we have the option.  If you recall, the scope and peg-tube procedures are two separate procedures and now the muscle biopsy makes three anesthesias.  So we have some decisions to  make.  We are considering having her PGE tube placed down in Atlanta while having her biopsy.  We need to ask more questions to find out if this is even possible.  I’ll post more when we know more.  As far as scheduling her upcoming admit, I think that they are waiting to hear back from us as to what we are going to do.

Aghhh….

I am SO FRUSTRATED with the CHOP system!  After we heard back from Dr. Schoffner last Thursday, I made the call to CHOP that we indeed want to move forward with doing the endoscopy and PEG-tube procedures but not the muscle biopsy.  I received a call back from them last Friday morning explaining to me that Lucy’s GI doctor needs to actually put the orders in the system before we can move forward with scheduling.  They told me to call back early in the week if I did not hear back from them. So I called yesterday afternoon to follow up, since I had not heard anything back from them.  I did not receive a call back yesterday afternoon nor this morning so I called back again around noon today to find out where things are at.  My message was stern but polite, “Please call me back TODAY so that I know where we are with things.”  I received a call back this afternoon from the GI nurse who was less than polite or understanding of my frustrations.  She explained to me that because of Lucy’s metabolic issues I need to call her metabolic doctor to have them contact her GI doctor.  What, after almost a week they are just telling me this today?  Why can’t they contact her metabolic doctor and coordinate her admit?  First off, I never get to speak with an actual person the first time I call, I always leave a message for someone to call me back.  So sure I can call, but then they have to call me back, and then I have to call GI and leave a message, and then they have to call me back.  It’s ridiculous and I told them so today!   They all work in the same hospital, can’t they page one another or use the internet?  I know they are capable of corresponding via e-mail, I have seen them do it!  What I forgot to mention to you is that way back on March 23rd(honestly, it was not that long ago) when the decisions were made to do these procedures, we asked her GI doctor to contact her metabolic doctor so that we could all ensure the best possible care for Lucy considering all her circumstances.  Her metabolic geneticists and I spoke twice about the e-mail correspondences they had with Lucy’s GI doctor.  Metabolic explained to me  how they would admit her under their service, and that GI and metabolic were both on the eight floor….you get the idea details have already been discussed between the two specialists.  Last Thursday, I spoke with metabolic to let them know that we are going to have the muscle biopsy done in Atlanta, I felt during that phone call that we were stepping on a few peoples toes by going down to Atlanta, but that’s how these things go.  When you are told your baby is a one a million you’ll do just about anything to get answers!   Sorry I’m rambling, but I’m just so frustrated!  I told the GI nurse that the GI doctor had already been in contact with her metabolic doctor and if there was any way for them to contact one another again that would be more efficient.  She was less than trilled with my suggestion, but said she would talk to the doctor and get back to me.  I asked her if she thought she would be able to get back to me today, to which she replied “probably not”.  Can you feel the love?  After she hung up on me, I called Lucy’s metabolic doctor and left a message explaining the situation.  Guess what, I did not receive a call back today. Aghh,  GI is such a pain the a**!

Back to the Grind…

I can’t believe that our vacation week is over.  We had a great time this week just spending time together as a family.  Some have asked if we had a relaxing vacation, to which we replied “Is it really possible to have a relaxing vacation with four young children?”  Relaxing would not be the word I would use to describe our week off, I’m not sure I have a word that describes our time together.  I do know that this morning when we all had to get up for school, work, to do laundry we all felt a little sad to be going our separate ways which means that we thoroughly enjoyed our time together as a family!  Our hope is that we have made some enjoyable memories for our children!

While on vacation we were able to do so many of  the things that we set out to do.  We took the kids to D.C. to see the blossoms and the monuments.  If you asked the kids what the highlight of their D.C. trip was, they would unanimously say riding the Metro and getting ice cream at the mall food court .  It’s the little things in life! 

 

The weather was not the most cooperative; however, the kids did have some time to ride bikes and scooters on the driveway while Drew pulled some weeds and fertilized the grass.  Fertilizing is such a catch 22, if you know what I mean.  Lawn mowing season is upon us once again.  Just what we don’t need, one more thing to maintain.  F.Y.I. we managed to convince Megan to keep the blue sparkly bicycle.  She is getting better at riding it and so is Jack.

Our family of six is now a family of six plus three goldfish.  Oh yes we did it, we took the plunge and are officially pet owners, we have the PETCO card to prove it.  Like most kids, ours have been begging and pleading for a pet, they were thrilled with the idea of having a fish to call their very own! So with out further adieu we would like to introduce “Tiki Bunny” his real name according to Sophie is “Bunny”, “Easter”, and “R2D2” or “R2” for short.   

Here are just a few fish  facts for your reading pleasure:

1) The cost of a 1.5 gallon Nemo fish tank is 92 times more than the cost of three goldfish.

2) One Nemo statue costs way less than buying an actual Nemo fish.

3) The pet store was the only store open on Easter.

4) We learned that three small goldfish will indeed outgrow their tank in due time (we’ll just see if we make it that far). 

Lucy too got a fish tank of her very own.   Hers lights up and plays music every time you drop a plastic fish in the tank, it’s perfect.

We managed to start a few home projects that hopefully will be finished sometime in the near future. We also watched movies and ate popcorn in the family room which in our house is usually a big NO NO, eating in the family room that is.  We were able to spend a fair amount of  time hanging out in our pajamas, but I don’t think we ever made it a full day in just our pajamas.   We dyed eggs for Easter as well as our hands.  I don’t know why we don’t do this activity more often, the kids really loved it!  Hard boiled eggs are definitely one of Sophie’s top ten favorite foods!  The community Easter egg hunt was rained out on Saturday, so we decided to have an egg hunt in our yard on Easter Sunday.   

We spent a lot of time throwing schedule out the window and just doing whatever we wanted when we wanted.  This was fun while it lasted, but I have to admit that I am a little anxious to get everyone back on schedule.   We ended our vacation by taking the kids to see Sesame Street Live, it hit us when we were on our way to the show that this may be the last time that we will be able to take all four of our kiddos to see a Sesame Street show without one or more or them saying that they are too old for Sesame Street.  Although, my brother purchased the DVD series of the first years of the show and watched them with our kids at Christmas and I do believe that he enjoyed them more than the kids did. So maybe we still have a few years left.

As far as up coming medical appointments go, it looks like we are heading to Atlanta May 19th.  Lucy will have several procedures preformed while we are there.  She will have a resting metabolic rate test, spinal tap, skin, and muscle biopsy.  The last three will be done under anesthesia and the first one will be preformed at a clinic.  She will need to fast for two hours prior to the resting metabolic test, she should have no problems with this it’s the quietly sitting for forty-five minutes during the test that I am concerned about.   Most importantly,we  have a two hour consultation scheduled with Dr. Schoffner. We are very interested in his opinion!  Before we go to Atlanta we are hoping to be admitted to CHOP to have the surgery done to place the PEG-tube as well as having the upper and lower endoscopy procedures.  We are waiting to hear back from CHOP to schedule these procedures.  On Wednesday of this week we have therapy and on Thursday we have an appointment with audiology at DuPont.  We feel good that we are moving forward with some of these things but are continuously struggling with this reality.  Drew and I have spent a lot of time talking about Lucy’s situation, we continue to remain hopeful that we will get answers to what is ailing our little girl!   We appreciate the numerous thoughts and prayers that are being said everyday for our family especially our little Lucy, thank you!

An Update on Dr Schoffner…

We received a call this morning from Dr. Schoffner’s office informing us that he indeed would like to see Lucy.  As you all know, we have been anxiously awaiting this phone call, but now that we received it we are understandably having mixed emotions.    I will write more about this later, for now I have to get ready to take the girls to ballet.  Thanks for all the support and prayers!

And today she’s six!

 

Six years ago today Megan Olivia Marlett came into this world early, as usual.  Megan is our ONLY child who is usually ready before any one else  in our house, she does not get this from me.  Often when we are getting ready to leave for somewhere I will call out for Megan wondering where she is, almost always she will already be in the car buckled up and waiting.  We call Megan our “flipper flopper” because she has a tendency to change her mind and then go back to what she originally wanted.   She did this just before making her arrival into this world, she turned her head the wrong way for delivery so we waited  another two hours for her to change her mind and go back into the position she was originally in so that she could make her entrance.   Today's example, we took Megan to the toy store to let her pick out any bike she wanted for her birthday.  She first picked out a cute pink bike that sparkled and had streamers on the handles.  It came with training wheels, which she does not need, so she moved on to pick a bigger bicycle with a kick stand  and no training wheels but still one that sparkled and had streamers on the handles.  Well, tonight at dinner she said to me that she thinks that her new bicycle is too big and wishes that she could go back and pick the smaller pink bicycle as long as we don’t put the training wheels on it.  I guess you could say she was born with it!

Megan you are growing up before our very eyes and are truly becoming a remarkable human being!  We are so honored to be your parents and to be experiencing the world with you in our lives! I can’t imagine our family being what we are today with out you in it!

Still waiting, but decided to take a vacation!

We have not heard anything back for Dr. Schoffner’s office yet.  I was told to call them today if we have not heard anything back, I did but was unable to speak with the office manager.  We are going to continue to hurry up and wait!  My sister told me not to pray for patience because you know who will play tricks on you.  Instead pray for strength.  Is patience or the lack  there of some kind of ongoing  joke in heaven?  I am my father’s daughter and lord knows patience does not run in our family!

It is spring break for our kiddos this week and we have all decided to take a break!  Drew has taken the week off as well! Originally we had plans to visit my sister in Florida, but for many reasons that was just not possible.  So we are taking a vacation at home this week.  I’ve said this before,  the accommodations just can’t be beat!  We have high hopes of taking the kids to D.C. to see the cherry blossoms and the monuments, watching movies, sleeping in and staying in our PJ’s all day, going to the park, riding bikes, celebrating Megan’s sixth birthday tomorrow, getting a pet fish, planting our garden, dying Easter eggs, getting a few home projects started and hopefully finished, and just making memories that will last a lifetime!

I will post more about our life’s events when they happen.  Keep praying and thinking positively, it helps!

Wednesday is therapy day…

 

I know I’m not the only person in the world who uses a calendar to write down appointments and dates that need to be remembered and then forgets to look at what she wrote down, right?  Wednesday is our therapy day, it has been for the last month or so,  but I can’t seem to remember that!  Our kids have a different school schedule this week, which doesn’t help my forgetfulness.  It’s just that Wednesdays used to be my catch up on everything I need to do day, you know my I feel like I need to do this or that day.  I woke up remembering that Lucy had speech and feeding therapy in the morning, I just thought it was at 9:30 not 9:00AM.  All I can say for this is thank goodness I was showered and almost dressed when I heard the door bell. 

Yesterday we worked more on speech therapy instead of feeding therapy as we are really trying hard to cut back on the solids per our GI’s request.  Lucy is a quiet baby, which is my way of saying she is profoundly speech delayed.  Yes, her therapist used the word profound when describing Lucy’s speech delay.  Ok, so we’re aware that she is not a very verbal baby, but like almost all things with Lucy we are  having a hard time grasping the extent of her issues.  We are going to start weekly speech therapy and biweekly feeding therapy in an effort to keep on top of Lucy’s progress.  One of our goals with Lucy is to use simple signs for everyday tasks and objects so that she can communicate with her hands until she is able to vocalize the words.  In theory this is an excellent idea; however, we are noticing that Lucy very rarely brings her hands together.  She seems to favor her right side, not really using her left side much.  Her left side is much weaker than her right.  A great example of this is when she is eating Cheerios in her high chair, she eats from the right side of her tray using her right hand and cries for more Cheerios when she still has Cheerios remaining on the left side of her tray.  At first we just thought that she was one of those eaters who eats from one side first and moves her way across, you know like those eaters who eat all of one food first before they move to the next food on their plate.  Babies Lucy’s age do not show a preference for handedness, so that’s not what’s going on here.  In an effort to strengthen her left side, we are frustrating the heck out of her by forcing her to use that side!  It is very obvious to us, now that we are doing this, just how much she does not like using her left arm to do much of anything.  In general, she uses her left arm to stabilize her body when sitting. We are going to look into adding additional occupational therapy to see if we can help her to over come this weakness.  As if this wasn’t enough, we also need to look into having Lucy’s hearing tested.  Because she has such a “profound” speech delay there is a concern that she could be experiencing some hearing loss,  if I had to guess it would be more in her left ear than her right.   I am going to make a call to the ENT at CHOP to see if we can get her in soon (optimistic or naive, call me what you want;)! 

A lot of Lucy’s issues seem to stem from her body’s muscle weakness aka hypotonia.  As she is growing older, we are realizing how much more of an issue this is for her.  We are anxious to have her see her neurologist, that appointment is scheduled for the 27th, but if I can get her in sooner I will!  Lucy’s neurologist is a neuromuscular specialist and we are interested in her medical opinion as she has not seen her in six months.  

We received a call from Dr. Schoffner’s office manager yesterday informing us that he is currently reviewing Lucy’s records.  As soon as he is finished doing that, they will call us to set up an appointment if he wants to see her.  They were so nice when they called, sympathizing with us for all that we have been through.  They wanted to give us an update on the process ,and to let us know to  hang in there just a little longer.  Hopefully, we will know something by Monday!