Sunday, March 29, 2009

Another Weekend…

Nov 1, 2008 to Mar 25, 2009 1185

Hooray for Saturday!  I love Saturdays for the simple fact that I can sleep in because Drew is home and can get up with the kids.   Only in my recent  sleep deprived state, I often forget what day of the week it is and wake in a panic thinking that we slept past the alarm!  This happened to me this morning when I opened my eyes to Sophie starring  right at me and to Lucy on the monitor fussing at 6:50AM.  I mumbled to Sophie to go back to bed when she began to cry that she wanted to go downstairs and then it hit me, it’s Saturday!  As I was walking to the nursery to feed Lucy, I told Sophie she could go downstairs knowing full well that Jack would be up soon.  I know this because on Saturday our boy wakes up early on his own, unlike during the week, because he knows that on Saturday morning he is allowed to play video games while Drew and I try to eek out another hour or so of sleep.   Sure enough when I finished nursing Lucy and came back to bed, Jack came waltzing in and told his dad and I that he would play Wii with Sophie, what a good brother, so that we could sleep in.  To which Drew mumbled something about how, “this counts towards your two hours of video game time”.  Ok, so we talk the talk but don’t always walk the walk.  Sometimes, we extend those two hours of  video game time on the weekend just a little when it works to our sleep advantage.  Drew woke about an hour later when three out of the four were up so that I could stay sleeping and he could play Wii with the kids.  I have been working the night shift for the last twelve or so months, but recently I have been putting in a ton of overtime!  Lucy is not sleeping well at all, that’s an understatement!  She wakes anywhere between 3 and 11 times a night!  Eleven is the record number of wake times since I have consciously been keeping track.  We have some theories as to what is causing her to wake and they are all related to her GI system.  Hopefully we will get some answers to what is ailing her after GI does their work up.  As for now, we know that cutting way back on the solids seems to make a difference.  So even thought I can’t seem to get it through my head that my baby who so very much wants to eat things now can’t for some unknown reason handle what goes into her body.  Oh this is so very frustrating to comprehend!  I refuse to give up hope that she will one day eat like the rest off us! 

Nov 1, 2008 to Mar 25, 2009 1049

Our life has been going full force, it seems since the beginning of this Month.  We have had a total of  thirteen medical appointments so far this month between Lucy’s specialists, pediatrician, speech and feeding therapies, occupational and physical therapies, and several trips to the dentist for everybody except Lucy and Drew.   Thank goodness for our insurance!  As far as appointments go we are waiting to hear back from Atlanta as to whether or not they will take Lucy on as patient.   We are waiting to hear back from them before we go ahead and schedule Lucy’s GI procedures because if the doctor in Atlanta agrees to see her than we will have her muscle biopsy preformed down there instead of at CHOP.  If for some reason they do not agree to see Lucy, than we will consider having the biopsy preformed at CHOP when she is under anesthesia for one of her GI procedures.  Like I’ve said before, we are in the hurry up and wait mode!

Nov 1, 2008 to Mar 25, 2009 1214

Our life is not only doctors appointments and medical stuff, although it feels like that recently, we have been doing a few other things as well.  Last weekend the kids Grandma Dianne came to visit us from Wisconsin.  We had a lovely visit with her.  The kids enjoyed spending time with her as I know she did as well.  I’m sure she went home and missed all the noise and chaos of having little ones running around and talking all at once, or maybe not?

  Nov 1, 2008 to Mar 25, 2009 1101 Nov 1, 2008 to Mar 25, 2009 1087

It has also been a big time of year for birthdays in our house!  During the month of March Drew, Lucy, and I all celebrate a birthday.  There has been a lot of cake around here recently, and no I am not complaining!  Drew and I combined our presents this year and bought ourselves a brand spanking new computer complete with wireless internet!  Yes everybody, I am typing to you from the comforts of my own kitchen counter and not our freezing cold basement.  I’m sure to some of you this is not very impressive, but to those of us who have been working on a relic from 2002 you know exactly the enthusiasm I am feeling right now sitting in my kitchen typing this for all of you to read!   This new beauty will only facilitate my blogging habit and hopefully provide you all with many valuable posts about the Marlett family. 

Nov 1, 2008 to Mar 25, 2009 1136

Ok, well my time here is up as I am off to check on my children and go to bed.   Hopefully Lucy sleeps well tonight, I will never give up hope as that is what I have!

Monday, March 23, 2009

A little of this and a lot of that

It's been a while since I posted anything about what's been going on at the Marlett house. Part of my blogging absence is due to my chronic fatigue that unfortunately doesn't appear to be going away any time soon. Another reason for my lack of posting is the intense decision making that Drew and I have been doing. I will share with you what we have been contemplating later in this post.

We have been busy doing all kinds of everyday things and not so everyday things. We are back in the swing of appointments again. Lucy had her one year "well check" a week ago. It was oddly comforting standing in our pediatricians office discussing all of Lucy's issues and joking with her about the CHOP system and all of the "ists" and "ology" doctors that we have seen over the past year. Our pediatrician is a very intelligent doctor who is practical and understanding of her patients' families and situations. We are so lucky to have her as an advocate for Lucy's, for that matter our entire family's, needs! Overall, there were no surprises at her appointment. We are "regulars" at her office and we keep in touch after every specialist appointment.

Last week, we also had an appointment with Lucy's nutritionist. Lucy is continuing to gain slowly but steadily. However, after doing some calculations her nutritionist determined that we need to bump up the calories again to keep her gaining. As she continues to grow and her activity level increases so do her calorie needs, so it makes sense that we keep adjusting her calories. We also made another formula change to see if we can prevent some of the absorption issues that we think could be from the formula. We are trying an amino acid based formula where all of the proteins are broken down so that her body won't need to do any of the processing. Breast milk protein is naturally broken down like this, and we know that Lucy tolerates breast milk well, so we are hoping that she tolerates this formula better than the Alimentum. We are continuing to use a mixture of breast milk along with formula for her tube feeds. We have found that the formula acts as an emulsifier, helping to keep the fat in the breast milk from separating and sticking to the inside of her feeding bag. In our experience we found that when doing an all breast milk feed the milk solids separate quickly and the fat tends to stick to the inside of the feeding bag. The fat is what we need her to have so this is why finding a formula that works for her is essential. We are continuing to receive donor breast milk and for this we are so grateful! So far we are not having the blow out diapers we were having, instead we are dealing with constipation issues again. If it's not one thing it's another!

Last Wednesday we "stared" in a movie about NG tubes for DuPont hospital. Let me explain... About a month ago I received call from our social worker at the hospital who asked if we would be willing to help them with an instructional movie series. They needed a family who was willing to demonstrate how to place an NG tube. I thought about what they were asking and realized very quickly that this would be a way for us to "pay it forward". Throughout the past year we have been blessed by so many who have shared their experiences and expertise with us. I know that an instructional video on NG placement would have been a great help to Drew and I when we were starting out, so I agreed to do the video. Of course my immediate thought was how would Lucy handle all of it? Tube placement is no comfortable procedure, and believe me when I say it doesn't look pretty going in either. What I neglected to think about was that this movie was going to be filmed in our home, they made it sound like that would be more convenient for us-ha! In reality, this meant that I needed to have my house totally picked up and cleaned, and we all needed to be awake, showered, dressed, and ready to make a movie by 8:00am! At eight o'clock Wednesday morning our house was converted into a movie set complete with producer, lighting director, artistic director, hair and make-up, a representative from DuPont hospital, a home health care nurse, and a representative from a home health care agency. There were seven people in all plus Drew and I and the girls! Oh yes, this in deed was a production! I don't know how reality t.v. stars handle all of that, there is no way I could handle doing this day in and day out. I like my everyday private life complete with dirty dishes in the sink and showering in the afternoon! In the end the filming went well and Lucy was better than we could have ever imagined her to be. She was the NG tube movie star!

Now that we have successfully mastered NG tube placement, we thought we would change things up a bit. It has become increasingly obvious to us that Lucy requires supplemental nutrition to grow. Our hopes of entral feeding only lasting a few months has turned into the reality that without it she is unable to take in an adequate amount of calories for growth. There appears to be no end in sight for now, so Drew and I have decided to have the surgery to place a PEG-tube in Lucy's belly to replace the NG tube in her nose. Lucy is experiencing delays in speech and feeding, some think that this could be a result of having the NG tube in her throat. An NG tube is usually placed for temporary situations, although we have learned that some people use them for years. Lucy tolerates the tube in her nose but at times is bothered with it and all the tape on her face. We have learned to look beyond it, but it is an obvious reminder that something is not "right". One of our hopes in placing a g-tube is to give Lucy a more "normal" life. We have spoken with other parents about the procedure and all have said that we will love it once it is in place. I will write more about the details of the procedure when we know more.

Today we had an appointment with Lucy's GI doctor. Ugh...he is a difficult man to talk with! He too has advised us to increase Lucy's calories as she appears to be plateauing in her growth. After explaining again to him about Lucy's digestive issues, he wants to perform an upper and lower endoscopy. He feels that we need to cut back on feeding Lucy any solids until the endoscopy, but in the same breath is not sure that he will find anything during the procedure as an endoscopy can not detect any muscle issues. I mentioned before that we feel that Lucy's GI issues are related to her hypotonia. He does not feel the need to preform a gastric emptying scan(GES) because he already believes that Lucy has delayed gastric emptying. The solution to delayed gastric emptying is tube feeding, and we are already doing that. Because of Lucy's fasting complications we need to coordinate the endoscopy and PEG tube procedures with her metabolic doctor. I mentioned before that Lucy's metabolic doctor would like to preform a muscle biopsy when Lucy is under anaesthesia for her GI procedures, this is where things get complicated. Drew and I are in the process of sending Lucy's entire medical history to one of the leading mitochondrial disease specialists in the country. We are hoping that he will agree to see Lucy and consult with us about her. If he agrees to see her, than we will have her muscle biopsy preformed by him. So we are waiting to schedule any procedures until we hear back from him. Again we are in the hurry up and wait mode! We are hoping and praying that this doctor will agree to see us sometime in the next month or two. To complicate matters further, we learned today that it is not possible to perform the endoscopy and place a PEG-tube at the same time. This means that Lucy will need to be put under for two separate procedures, but we were told that they would coordinate both procedures in one hospitalization.

Sigh...

We have made a lot of decisions these past few weeks. It is difficult not knowing exactly what is ailing Lucy, so naturally we are second guessing many of the decisions that we are making. We are hoping to hear back from the mito doctor soon. For those of you are saying prayers or thinking positive thoughts, send your thoughts and prayers out there that Lucy will be seen by him soon!

Sunday, March 15, 2009

She's Something Else


In typically Sophie fashion she was pulling out all the stops when it came to going to bed. Tonight she suddenly needed a band-aid for a boo-boo on her ankle that occurred earlier in the day, but then the band-aid kept "faaaallin off". After much debate the band-aid really just made the boo-boo worse, so off it went and low and behold all was better!


So I said to her as she was climbing into bed: "Sophie you are something else!"


To which she replied, "What is it?"


Thursday, March 12, 2009

And now she's 1

Happy birthday to our sweet little Lucy! Today we spent our day quietly celebrating our baby's first birthday. To her it was like every other day in her life except for one difference, whenever any of the kids came near her today they began to sing a rousing chorus of Happy Birthday directly in her face! By the time it came to dessert and to singing happy birthday to her so that we could blow out the celebratory first birthday candle, she had had it with that song. We put her out of her misery by placing a frosted cupcake on her tray to give her the honorable baby's first taste of sugar she so deserves. She smashed it, patted it, picked it apart, and waved her hands covered in frosting around as if it they were covered in yuck, but never really ate it. She tasted just a little bit, but opted not to go for seconds. Sophie sat looking at her with her eyes wide open, it's amazing that those two came for the same two parents. I think that Sophie would have offered to lick Lucy's hands clean if given the chance. In a way I was disappointed that she didn't "whimper" for more because you all know how loaded with calories a frosted cupcake is, several dozen of those babies and I think we would definitely see the numbers on the scale go up. On the other hand, who knows how her GI system would have responded to all that sugar and spice and everything not so nice.



This morning I received a call from the geneticist who works with Lucy's metabolic doctor. He was calling to tell us that Lucy's urine organic acids were normal for the first time in months. This indicates to them that she does not have a fatty acid oxidation defect. This is the confirmation that they have been hoping to see because they did not feel that she fit the profile of a person with a FOD. However, she had another low non-fasting glucose level which means that we now officially need to be worried about hypoglycemia. Hypoglycemia is a symptom of a FOD, and I think also another indicator that something is up with her metabolism, or perhaps it's something else entirely. We are going to need to follow up with endocrinology, there's a surprise(not really). This means that we are on the fence about whether or not to do the skin biopsy. I asked if a skin biopsy can indicate mito, unfortunately it can not. So we are going to wait to hear back from her metabolic doctor tomorrow. If I had to guess right now, I don't think that we are going to move forward with this tomorrow. Yeah, I was not looking forward to putting her through yet another test, but geez could we just have a little clarity. It seems that with every test comes more questions.

A Year Ago

A year ago today our entire family of almost six was spending "quality time" together at an extended stay hotel in Eau Claire, Wisconsin anxiously awaiting the day our new baby would make us a family of six! For those of you who are unfamiliar with our birth stories you might find the attached newspaper article that was written about our family helpful :).

So much is going through my head tonight as I think back to our lives one year ago. Jack, Megan, and Sophie were so excited, or maybe more anxious, about having a new baby in our family. My mom came to take the kids back to her house the night before Lucy's birth since we knew that we were going in for an induction at 7:00 AM the following morning. It was difficult buckling all of them up in my mom's car and saying good-bye to each of them knowing that the next time I would see them they would be a big brother and big sisters to who ever it was I holding in my belly. I remember being worried about the induction since I am such a "do not mess with nature" kind of gal, but there is something about staying in a hotel for two weeks with three small kids that can change your mind about certain things. Not to mention the fact that I was very uncomfortable throughout most of my pregnancy and often told Drew to remind me of it if I ever got nostalgic and missed being pregnant. Trust me, he has stuck to his promise! The night before Lucy's birth Drew and I shed some tears of fear and excitement with our dear friends Mike and Franci and then went out for sushi to celebrate what was about to happen.




All my worries about induction went out with the breaking of my water the next morning at 9:00 AM. Labor began and there we were again feeling just as excited, but not quite as nervous, as we did on our other children's birthdays. Lucy Grace Marlett was born on March 12, 2008 at 1:19 pm. Our lives have never been the same since that moment! Seeing your new baby brings meaning to the expression "love at first sight." Drew and I sat in awe of our newest creation for hours examining her every feature, wondering who she looked most like, and where she got her red hair from! Shedding tears of joy and relief that both she and I were healthy. Those moments will be forever ingrained in our memories!




Now one year later, we still sit and awe at our littlest creation, wondering what the future holds for her, and where her red hair came from! This past year has been filled with so much emotion! Happy Birthday Lucy Gracie, we are thrilled to be celebrating this day with you!





Monday, March 9, 2009

About Friday...

Thank you to all who have been saying prayers and sending us "good thoughts" about our appointment on Friday. I have needed a couple of days to make sense of everything myself before I could write about it. Even as Lucy's parents it has been difficult understanding what all of the doctors are saying about her, so I will do my best to explain to you what we know and how we understand it.

Lucy is showing biochemical indications that she has a potential fatty acid oxidation defect(FOD), specifically SCHADD. Refer back to our post on December 11, 2008 for more information on SCHADD. Lucy's lab work has indicated this; however, her symptoms are not consistent with SCHADD. Her metabolic doctor has felt all along that Lucy's growth issues are so severe along with several other symptoms, and therefore do not match the profile of a person with SCHADD. We received the results back from the genetic research study that we enrolled in on December 23rd and Lucy nor Drew nor I have the genetic sequence for SCHADD. Her metabolic doctor was NOT surprised to see that she does not have SCHADD, but did say that it is possible that Lucy has a fatty acid oxidation defect of unknown origin. This is so confusing, I know, but her doctors are looking at the chemistries and her symptoms and have to rule things out scientifically as well as clinically. Her doctor feels that Lucy's early laboratory findings could have been affected by her severe failure to thrive diagnosis. In other words, her body was so malnourished(I HATE saying it this way) that it could have affected her lab results. So on Friday, we had labs drawn again, now that she is two pounds heavier, to compare results from the previous four labs that they have already reviewed. If these labs come back with essentially the same results, then on Friday of this week we will go back to CHOP and her metabolic doctor will preform a skin biopsy to help further diagnose the potential of a fatty acid oxidation defect. A skin biopsy is done by taking a small sample of the skin, usually from the back of the thigh near the buttocks. Lucy will be given a local anaesthetic, I think in the from of a patch. The sample that they take is apparently small enough so that she will not need any stitches. I know this sounds painful, but this information can be helpful in diagnosing a FOD as well as several other metabolic illnesses. They will then take her skin sample and grow cells from it and challenge it with various types of fats to see how the cells respond. Based on the response of her skin cells, it is possible to make a FOD diagnosis. Have I lost you yet, this is not easy to explain! I barely understand the chemistry behind cell growth and metabolic illness; however, I do understand that this test could potentially be useful for diagnosis. So Drew and I feel that this test may yield important information that could help us make more informed decisions about Lucy's medical care.

We discussed with Lucy's doctors her development and how we feel things are going in general. In general, Lucy has made great strides in her development since November. Part of this is due to the fact that she is four months older now and another part has to do with the fact that she has been receiving supplemental nutrition. Overall, she is acing more like a baby of six or seven months of age and is growing at her own rate, but is the size of a three or four month old baby. What we need to keep reminding ourselves is that Lucy has been sick, for lack of a better word, a majority of her first year of life. It is understandable that she is delayed in several areas; however, we are concerned that some of her delays are not a result of failure to thrive. Specifically, we are worried about Lucy's muscle tone and loose joints, this has been a issue she has had all of her life. We are going to follow up with Lucy's neurologist in the next month to see what, if any, input she has about her now that she is six months older. She spoke with us in September about repeating an MRI when Lucy turns one year old. Repeating this test could yield possible information about how Lucy's brain has developed over the course of the last six months, and perhaps give us some information as to what is causing her poor muscle tone. The other big issue that we are concerned about is Lucy's growth and digestion. The GI system is essentially a big muscle and because we know that Lucy has poor muscle tone metabolic is encouraging GI to move forward with the GI studies that were originally scheduled for November and early December. We feel that her poor tone could be contributing to her GI issues. Now that we have a GI specialist at CHOP, we will discuss with him what he feels needs to be performed on Lucy. We have an appointment scheduled with GI on March 23rd. I will let you know more about this after that appointment.

If you recall I told you in a previous post that when we first saw the metabolic group at CHOP they did not feel that Lucy had an obvious metabolic issue. Her doctor stated that to us again, but added this time that it is a complicated issue that appears to metabolic in nature. When she made this statement I know Drew and I felt for the first time since all of this began that we are in the "right place" going down the "right road". I have to say that we are impressed with how accurately her metabolic doctor and geneticist recalled certain facts about Lucy, I think at times we feel that doctors are not always the best listeners and can be quick to draw conclusions, this does not appear to be the case. That being said, her doctors are concerned that Lucy's symptoms and labs could be indicating Mitochondrial Disease. I feel like I just opened a new can of worms in the last sentence I typed. This is a VERY complicated disease and I caution those of you who google it to look at the information carefully, as this disease affects everybody differently! I have found the United Mitochondrial Disease Foundation's(UMDF) web page to be a good source of information on this disease, much more informative than I could ever be. In order to confirm this diagnosis, Lucy would need to have a muscle biopsy preformed. Her metabolic doctor feels that she would like to do this at the same time Lucy is under anesthesia for her GI procedures. Drew and I are not sure what we think about this, we need more time to digest the information, no pun intended. We are perhaps going to seek a second opinion before we move forward with a muscle biopsy. We'll let you know more about our decisions when we do!

A FOD is a disease of the mitochondria but is not Mitochondrial Disease(Mito). It is possible that Lucy has a FOD in addition to Mito. That is why we need to consider having both biopsies performed. I'm not sure where I learned this, but I think that a skin biopsy can possibly indicate Mito, but the only way to confirm Mito is with a muscle biopsy. I'll have to ask her doctor. All of this is new to us but not surprising. Since June, I have been researching all of Lucy's lab work as well as researching diseases that some have suspected. Mitochondrial disease was mentioned to us way back in September by Lucy's neurologist. Our pediatrician along with our neurologist referred us to the metabolic group at CHOP, specifically Dr. Ganesh. I think that both had some suspicions that it could possibly be Mitochondrial Disease.

I don't know that I have the words to describe how Drew and I have been feeling over the past year. We have learned a lot about life, Lucy, the medical profession, understanding lab results, genetics, how we handle stress, and what is most important to us, our family! I have written a lot! I'm sorry if it in spite of all the words it still does not make sense. It is very confusing and I wish at times that I had a degree in genetics, biochemistry, nutrition, nursing, and medicine. That is not possible so I have the next best thing, the Internet! Your support and friendships are so valuable to us! Feel free to e-mail with any questions or comments, we love to hear from you! Please keep us in your thoughts and prayers as we have some difficult decisions that need to be made sometime in the near future.

Wednesday, March 4, 2009

This Week

I am a ball of nerves this week as we are heading to CHOP on Friday for one of those "oh so important" appointments with Lucy's metabolic doctors. I know I have said that I am trying not to put all our proverbial eggs into one appointment, but guess what, that is so much easier said than done! At this appointment we are hoping to get lab results back from the labs that were drawn just before Christmas. As you may have noticed from our posts, our appointments with all of the Lucy's specialists have slowed down some since the end of January. It has been nice having the time to think and digest all that we have experienced or are experiencing without having to go to so many doctors appointments. Many of you would be surprised to know that we have been fine with the waiting up until this week, but this week Drew and I are losing our patience and are very anxious. We are not sure what we want these labs to tell us. On one hand, getting results back that confirms SCHADD would give us a diagnosis and would thus allow us to make more informed decisions about Lucy's medical care. On the other hand, getting results that don't confirm SCHADD would mean that she does not have this disease but then were back at "what is it"! A dear friend of ours said that she is going to pray that we get "answers", I really liked how she stated that. I'm not sure what that means as far as these test results go, but getting some answers would be really helpful right about NOW! I have been keeping so many of my feelings about Lucy positive because I am "a glass half full" kind of person, but there are things about Lucy that are still so concerning. Her tone is something that has improved, but is not great. It is hard to describe but she feels kind of like Jello, firm but wobbly. I keep telling myself that she is progressing in her gross and fine motor development, but she doesn't have the same strength that my other kids had at this age. I know, I know, I can't help but fall victim to comparisons. I know all kids develop at their own rate, but I am comparing muscle tone not intellectual development. She has gone from not eating any solids to eating several meals a day, but this has come with so much trepidation. Is what she is eating causing her discomfort, why is she having so many bowel issues? Ahhh, this is an area that is so frustrating! Recently, she has been a terrible sleeper. Is this because of her continuous night feeds, is it the formula, or is it just teething pain? And one of the biggest concerns we have is will Lucy be able to grow on her own without the need for supplemental feeding? It is not so easy to deceiver what are her individual issues. Like I have said before, we are trying to take all of this one day at a time!

Sunday, March 1, 2009

Friday




On Friday we took the family to one of our favorite places, Longwood Gardens. If a picture says a thousands words then these will speak volumes, enjoy!
This is about as good as I got on Friday afternoon. It's not easy getting a good picture of the four of them. At first you don't succeed try try again!


Obviously, not a good one but this picture says a lot about our afternoon.


This has been Lucy's mood recently, thought you want to see what I have been writing about. We pulled her tube today to give her nose a break. We thought it would be nice to have some pictures without a yellow tube hanging out of her nose.


Doesn't Sophie look like she is saying nice try mom, better luck next time. What you don't see is that about a second later Lucy started screaming because her legs got stuck in between the slats on the bench.


This picture would be so cute if it didn't look like Megan was strangling Sophie.



Are we boring you Lucy?



Smile!