Tuesday, December 30, 2008

Who stole a cookie from the cookie jar?



This morning I was putting Lucy down for her nap when Sophie yelled up the stairs to me,


"Mommy, I'm still hungry for a little more food. "


Mind you she just finished eating breakfast about fifteen minutes earlier. I chose not to respond to her as I was in the rocking chair nursing Lucy to sleep. After laying Lucy down for her nap, putting another load of laundry in the machines, and getting dressed, I came downstairs yelling "What are you up to Sophie?", to which I heard no response. When I came into the kitchen I saw a small chair pushed up next to the counter where a large plate of peanut butter kiss cookies were located. I then looked down to see our Sophie munching away on one of the above mentioned cookies.


So I asked her in a stern but sweet tone, "What are you doing?"


Sophie: No response from her as her mouth was too full to talk.


So her Dad asked, "What did you do Sophie?"


Sophie: She swallowed and said enthusiastically, "I had an idea!"


At this point Drew and I are trying very hard not to laugh as we are trying to teach her that she needs to ask us before she just helps herself to something to eat. In order to keep her from digging a hole any deeper I skimmed over the obvious question and went straight for an answer.


Mommy: So I asked her, how many cookies have you eaten?


Sophie: I think just five!


We learn something new everyday!

Monday, December 29, 2008

Merry Christmas to all and to all a good night's sleep!


What a whirlwind of a week we have had! Last week at this time I was running on adrenalin, shopping, cleaning, wrapping, organizing, scheduling, cooking....Merry Christmas to all and to all a good nights sleep! This morning I slept in until 10:30, of course not without waking every four hours, feeling more tired than ever! I was only able to do this because Drew took off this week for a vacation at home! We love vacationing at home! The accommodations are great! Yesterday our entire family spent the day in our pajamas playing with all the new goodies that Santa delivered! I knew that Jack's Nintendo DS was going to be just as addicting to him as it is to Drew and I. Our conversations about the game Mario Kart sound as serious as our conversations about the worlds problems, it's ridiculous! Don't worry Grandma, we are going to set some limits soon. Megan and Sophie have been busy playing Christmas for the last few days. If you can't find something in our house right now you need to ask one of them as they have probably wrapped it in paper and placed it under the tree. As for Lucy, it was like a Where's Waldo game on Christmas morning. Lucy had fun crawling through the sea of presents and wrapping paper, it was hard to see her at times. We had so much fun visiting with family, the time went by so quickly! We are trying hard to keep the spirit alive this week as we enjoy some time as a family reflecting on the last year and looking forward to the new year.

On a different note, last weeks appointment with Lucy's metabolic doctors was frustrating for many reasons, but mainly because there is still so much uncertainty! Drew and I agreed to participate in the research study which will look at Lucy's DNA as well as ours to determine if she has the gene for SCHADD. We also had labs drawn to look at Lucy's growth hormones. These were the labs that the Endocrinologist wanted done the next time she was having blood drawn. The results for these labs won't be back for several weeks to several months! Also we added Pulmonology to our list of specialists because apparently the Cystic Fibrosis (CF) door can not be shut! Lucy and I are carriers of the CF gene, Drew passed a screening for the the CF gene but never underwent further testing as there are hundreds to thousands of possible gene mutations for CF and it was never warranted. Now we are needing to look closer at Lucy to see it she has two pairs of gene mutations for CF, you need to have two pairs in order to have the disease. Many of Lucy's symptoms resemble the symptoms of a patient with CF; however, Lucy has not had any upper respiratory issues. We are learning that not all CF cases have upper respiratory symptoms. Lucy did pass the sweat test for CF in late June, apparently that does not mean much when you look at just her symptoms. Because of our amazing Pediatrician, we were able to get her in to see a pulmonologist at DuPont on Friday of this week. Hopefully, we can "shut this door"! We were hoping to get a week off from any doctor appointments, but are happy that we got in so soon to see the pulmonologist. Despite our frustrations, we are continuing to do all that we can to treat Lucy's symptoms. The consensus from our Christmas guests was that she looked so much better than she did in October/November. Drew and I agree, but at the same time we are still so worried.

Tuesday, December 23, 2008

Reiminded

This morning I am reminded more than ever to take the time and really enjoy the holidays, you never know what can happen! A family that we met on one of our hospital stays has a very sick child who is battling so much this season, as their son has once again been admitted to the hospital. Please say a pray or send some positive thoughts to this family as they need, more than anyone I know this season, to have a "Merry" Christmas.

We are off to CHOP today as we have another appointment with Lucy's metabolic doctor. We are learning, but are still hopeful, not to put too much stock in one appointment. She will have labs drawn today. Keep us in your thoughts and prayers as labs are never easy for Lucy.

More than ever, we are excited to have family coming for the holidays! I think we all strongly feel the need to be together this season. I am looking forward to making new memories and laughing about the old! If I don't update before Christmas, know that we are busy with all that comes with the season, but are so grateful to have everyone/thing that is keeping us so busy!

Sunday, December 21, 2008

A "Sophieism"

The other morning when I was working on the computer Sophie was playing next to me on the floor dressing her Barbies. She was busy with this activity when she came out with this one...

Sophie: "Mommy, mommy, mommy,mommy..."

Me: "Yes Sophie...."

Sophie: "Mommy do you know what they make dresses with?"

Me: "What?"

Sophie: "Wands!

Me: "Wands?"

Sophie: "You know, magic wands!"

Friday, December 19, 2008

TGIF

Yeah, we made it to Friday! This week more, than any other week recently, has been the most exhausting week for us a parents. I'd like to say that I have been busy helping the elfs in the North Pole, or cleaning my house in anticipation of company coming, or even going out to lunch with girlfriends to celebrate the season, sadly I have done none of the above this week. My week started off with Lucy's nine month peds. appointment on Monday. All went as expected, she is again battling another cold so we are monitoring her closely. When I returned home from her appointment on Monday evening Jack stated to us that his ear was "really hurting!" He too has been battling a cold for sometime. So back to the pediatrician on Tuesday morning. After looking in his ears and listening to his chest, she concluded that he has an ear infection and upper respiratory infection. She asked me if I noticed that he was wheezing, sadly I did not! I have been dealing with, you know, metabolic issues. The common cold seemed manageable. I will be more attentive next time. He is doing well now that he has antibiotics and a neubulizer. While I was there I had her listen to Sophie's chest as she too has a "yucky" cough. After listening to her chest for a while our pediatrician took off her stethoscope and said that it was hard to hear Sophie's breathing because her stomach was making so much noise. For those of you who know our Sophie, you know that she is always hungry! We call her our Pooh Bear because not only is she shaped like him, she always has a "rummbly in her tummbly". She concluded that Sophie is just dealing with the residuals of a cold and needed some lunch. Wednesday is a blurr, I know that I crashed on Drew right after I put Lucy to bed. Thursday was the girls ballet recital. Watching them dance to music from the Nutcracker was a present all its own! For me there is nothing sweeter than watching my girls move as gracefully as they possible can across the dance floor. It is one of life's sweetest pleasures! After the recital we were off to Jack's school to be his show and tell. He was special person of the week, and boy did I really screw this up for him as I didn't even know he had this honor until Tuesday morning. I hope that us coming made up for forgetting to bring in a show and tell on Monday. Now it is Friday, and I have an entire weeks worth of laundry to fold, menus to plan, Christmas cards to address that I had done in October just so I wouldn't have to do them the week of Christmas, presents to shop for and wrap, and oh yeah a follow up appointment at the peds. office this afternoon for Jack. I am looking forward to this evening where I can sit with my kids and my husband and watch a holiday movie!

Thursday, December 18, 2008

The Plan

Yesterday, I received a call from the metabolism group at CHOP in regards to a meeting that they had about Lucy. Once a week the metabolism group has a meeting with all specialists who are involved in diagnosing, testing, and treating metabolic disorders. Lucy was on their agenda. We apparently need to "feel good" that they discussed Lucy's situation, because now we have so many more metabolic experts thinking about what needs to be done for her. On the one hand we do feel good about this and on the other hand not so good. It is concerning that even the experts are unsure of what to do next. We learned that there are several researchers at CHOP who are doing a research study on SCHADD, trying to isolate the gene for SCHADD. Apparently, there is no lab in our country that has this capability. There is a lab in the UK that has this capability, but we need to apply for special permission to have her blood tested in another country. This is not easy because of some law in the USA that states that basically the UK lab needs to agree to test Lucy's blood for research purposes, aka for free. We understand, now more than ever, that confirming this diagnosis needs to be done. If it is not SCHADD than we could be missing something by assuming that it is, and this something else could affect her for the rest of her life in ways we don't know yet. Whenever Drew and I weigh the pros and cons of doing another test or procedure, the former sentence rings loudly in our ears! Next Tuesday we will return to CHOP for another appointment with the metabolic doctors. We will have labs drawn for the above mentioned research study as well as for several other tests that might help point us in the right direction. Everyone involved in her care is being cautious about the amount of blood taken from Lucy as she is so very small. We are waiting for her to grow some more before we can have any more procedures done. This is the plan for now, we'll keep you posted.

Wednesday, December 17, 2008

What are we waiting for?

This week we are in the hurry up and wait mode. We are waiting to hear from Lucy's metabolic doctor on what the next steps will be. The last few weeks, including this week have been filled with doctor appointment after doctor appointment. In fact, I don't think that we have had a week since the the middle of October where we haven't had a doctor appointment or two, or three, or four... We have seen all the specialists that we need to see at least once now. We added hematology to the list last week as some of Lucy's labs are showing abnormal results with her red blood cells. We are not exactly sure if it is something we need to be concerned about, we are waiting to hear back from either the endocrinologist or hematologist on these. Lab results from the last few weeks are confirming what we have know for sometime, Lucy's liver function tests are coming back abnormal as well as several others. The liver is one of the organs that is often affected when a person has a metabolic disorder. One of the symptoms of SCHADD is hypoglycemia, in last weeks labs Lucy had an abnormally low non fasting blood sugar. We are now testing her blood sugar randomly to see if this is something that is occurring for her on a regular basis. Drew and I keep reminding ourselves that we are doing everything possible for Lucy right now. There is really nothing that we would be doing differently if we had a confirmed SCHADD diagnosis. Still, we wait...

Sunday, December 14, 2008

Just Jack


So when I started our blog I titled it All The Marletts because my intention was to blog about our family and all that is going on in our world. Well a lot of what's been going on in our world has been Lucy's medical situation, but that is just a part of our life. We have three other kids who medically are not as concerning, but are just as important in our world! Jack has on MANY occasions pointed out to me that our blog is not really about all of the Marletts, as he has not heard me write much about him! So this blog post is dedicated to just Jack!

On Thursday night after a very long day, the kids and I were driving home in the pouring rain at 7:00PM after music class. Car time is a great way for me to hear about what has been going on in their worlds as I try my best to just listen to them. I love to listen to the back and forth conversations between all of them, sometimes what they say is so funny I often have the urge to pick up the phone and call Drew right away to tell him. But I know that will stop their conversation, and two talking while driving is not safe, right uncle Dan! Well on this night Jack said something that was so informative yet hilarious that I thought I would share it with you.

The conversation went something like this:


Megan: "Mommy I dropped my glasses lens on the floor and I can't reach it!"


Me: "Oh Megan, be careful with your glasses, they are delicate! When we get home you can pick up the lens off the floor, but be careful not to step on it or drop it! The lenses are what cost so much when you buy glasses.


Jack: "Oh yeah Megan, be careful! You know why your lenses cost so much?


Megan: No response, just an annoyed look aimed Jack's way.


Jack: "Megan, glasses lenses cost so much because they are a service to make glasses and services cost people extra money because they have to hire someone to make the lens!"


Me: "Jack what are you talking about? Where did you hear about that?"


Megan: "Yeah Jack, what are you talking about?"


Sophie: "What are you taaalkiiinnggg aboooouuuttt Jaaaack?


Jack: "Don't you know Mom, I'm talking about goods and services."


Me: "Oh, where did you hear about goods and services?'


Jack: "In school, we are studying economics in Library!"


Me: "Economics in Library! Won't Obachan (my mom) be impressed!


Jack: "Oh yeah, she knows a lot about economics, she watches the news a lot!"


Jack: "Just ask me anything you need to know, OK Mom , I have library books about it!"


Out of the mouths of babes! Do you think it's too soon for the Wall Street Journal?










Saturday, December 13, 2008

A Nutritionist who eats chocolate!

Yesterday, we had our first appointment with the GI nutritionist at CHOP. I'm just going to come out and say it, we loved her! It was so nice to have someone so normal, a nutritionist who eats chocolate, in the CHOP medical system discuss something so abnormal with us! This nutritionist has a child who also needed supplemental nutrition as a baby, so she has personal experience as well as professional. It has been very difficult going to see so many specialists who are just as baffled as we are, if not more with Lucy's medical situation! It is not easy hearing that what your baby has is so rare that even a facility such as CHOP has seen but a handful of these types a cases ever! Lucy is truly a one in a million! We are learning that this is going to be long road and we need to prepare for the trip. Lucy's underlying issues are still unknown, but we need to continue to treat the symptoms. Basically, we need to help her to grow and gain weight! We discussed Lucy's growth chart and feeding regimen with the nutritionist who also stated that Lucy's growth chart was "pretty ugly and one of the worst she has seen!" When we began entral feeding in November, Drew and I were not very familiar with the process. Now, a month later we have several tricks up our sleeves that seem to be working for Lucy. Our new nutritionist was impressed with our knowledge of breastfeeding and our dedication to proving as much breast milk as possible! We know that Lucy is able to tolerate her feeds better when it is mostly breast milk. We are blessed to have donor milk given to Lucy by a very good friend. Between her milk and mine, Lucy has been receiving 100% of her feeds with breast milk. This is a huge accomplishment when you consider the quantity of food she is given daily! We do, however, need to find a formula that Lucy can tolerate so that we can use it to boost the caloric content of the breast milk. After looking at Lucy's progress over the last month, the nutritionist determined that we need to bump up Lucy's calories per kilogram ratio. She is not growing as fast as she would like her to be growing. At the same time, she could not tell us what her expectations are for Lucy since it is really up to Lucy's body to tell us what she can do. I know that doesn't make much sense considering Lucy's track record, but that is what we were told. Increasing her calories can be done several ways. One is too fortify the breast milk with formula so that it increases the calories per ounce. Two is to increase the rate of her feeds at night so that she is receiving more volume per hour. And three is to bolus her throughout the day so that she receives those extra calories. We are going to try doing this in the order I just listed, mainly because it seems the most logical for us. We know that increasing the rate has proven to give us a very queasy baby. Bolus feeding, adding extra ounces after every feed, is difficult for many reasons. One, it requires that I carry her equipment where ever I go. Two, this option is time consuming and difficult to plug her in throughout the day. Three, add to this the fact that we have three other children who need my attention at all hours of the day, and I think that this option could put me over the top! That being said, we will do what we have to! But for those of you who are saying prayers, please say a pray that option number one works! So we are in the process of making these changes, hopefully we do not have the same explosive diaper issue that we had a few weeks ago. You know I'll keep you posted :).

Thursday, December 11, 2008

What is it?

Today we had our "big" appointment with the CHOP endocrinologist who specializes in metabolic diseases. I would just like to state for the record that his big ego was no where to be found. He was very professional with an appropriate level of compassion for what Lucy, Drew, and I have been through recently. He too was not sent any of Lucy's information prior to our coming, despite our metabolic doctor telling us that she would send him Lucy's file. Fear not, today I was armed with pages and pages of documentation! After explaining why we were sent to him, it did not take long for him to see that Lucy is struggling to grow. He told us that her growth chart was "the worst he has seen!" Yikes, that was not what we wanted hear, despite the fact that we know it is not great. After looking at Lucy's chart and listening to us describe what we have experienced with her, he did not feel that she has an obvious endocrin issue. The word obvious has been used as an adjective a lot recently. We know that what Lucy has is not obvious or it would have been diagnosed by now! He felt that looking at Lucy's hormone levels could rule out all growth hormone issues if results were normal. He agreed that Lucy needs to be seen for further evaluation. This is where things get confusing to us as parents. How much further do we need to go? Lucy has some labs that are showing evidence of a metabolic disease know as short-chain 3 hydroxyacyl-CoA dehydrogenase deficiency(SCHADD). This is an extremely rare disorder in which the body is unable to break down fats for energy. This disorder is classified as an inborn error of metabolism, meaning genetic, in a category of metabolic diseases know as fatty acid oxidation disorders (FODS). Symptoms for these types of disorders include failure to thrive, extreme sleepiness(lethargy), behavior changes, irritable mood, poor appetite, poor feeders, low blood sugar(hypoglycemia), poor muscle tone(hypotonia), seizures, and developmental delays. Unfortunately, there is not one test that can confirm this diagnosis. In order to come to a diagnosis we need to pursue further testing. We were given this huge piece of the puzzle about a month ago when Lucy was admitted for complications due to fasting. Fasting is detrimental to people with FODS because it can result in metabolic crisis. This may be what Lucy experienced when she was admitted on multiple occasions to the hospital. Symptoms for this disease vary from person to person as it is an autosomal recessive disease, which means both Drew and I are carriers of the gene for SCHADD, that affects the mitochondria. Mitochondria are responsible for creating a majority of the energy needed for the body to sustain life and support growth. Each persons DNA is different and the mitochondria in every person react differently as a result of your individual DNA. Mitochondria are responsible for creating a majority of the energy needed for the body to sustain life and support growth. I need to warn you that any information that is available about this disease is very minimal as this is so rare! We have been told that there is no cure for this disease but with proper medical care and dietary treatments it can be managed. However, Lucy's metabolic doctor is concerned that Lucy's extreme growth issues and cognitive development do not fit the profile of a person with SCHADD. The endocrinologist told us that there is very little published data on this disorder as it has only been discovered in the last ten to twenty years; therefore, it is difficult to say worst and best case scenarios. Lucy could be making strides for new symptoms related to this disease. Leave it to one of our children to have something so rare. OK, so now you know what we know! Drew and I are relieved that we have some direction, at the same time we can't be sure that this is the right direction! Oh, if you could only hear my sigh... We are continuing to follow up with many of Lucy's specialists to treat her symptoms and rule out any further diagnosis. I am emotionally drained tonight writing this summary as it has been a roller coaster of a month, fall, year... I'm sure many of you will have questions, I know we do and we have been researching this for a while. E-mail us with you thoughts and questions as it may help us. Thank you for all your thoughts and prayers as we continue on with life!

Monday, December 8, 2008

A long overdue update


Sorry that it has been over a week since I last posted anything, we have been a little busy here you know with Christmas coming and all. Last week, my mom came to help us "catch up" on everything from laundry to work hours for Drew. Although she was not able to help us catch up on sleep, she made our waking hours easier on our tired bodies. I commented before in a previous post on how a baby just wants their mom when they are not feeling well, I have felt that want recently with our current situation. There was something about having my mom here that made me feel more "normal". I'm not sure who she helped the most the kids, me, or Drew! Thanks Mom, we really appreciate you and all that you have done for us!
Last Friday, we had an appointment with the GI specialist and opthalmologist at CHOP. I'll start by explaining her opthalmology appointment. It was the best appointment that we have had with any specialist thus far, mainly because everything looked normal. Normal is not a word that is often used to describe Lucy. Basically, her eyes looked great and he did not see any abnormalities with her optic nerve or her retinas, which would indicate a problem with her neurological development. She has a mild esotropia, cross eye, which he attributed to the distance between her eyes and should correct when she grows. As for her GI appointment lets just say CHOP has a reputation for its giant ego, and we met their giant ego in GI. Unfortunately for us and for the doctor, Lucy's medical records were not sent to him so Drew and I basically began explaining all about Lucy's condition from day one to the present. This is not an easy thing to do despite her very young age. He interjected at times with comments about how this is not a GI issue and then concluded with how we need to see their GI nutritionist and follow up with him in a month. He ordered more labs for Lucy including another metabolic panel, we believe that this makes for the fifth metabolic panel done on Lucy. He order some other labs which he wanted to compare with some of her other labs done prior to the start of enteral feeding. We are following our metabolic doctor's orders to see all of these specialists, but at the same time we feel that we are unfamiliar with the very large medical system at CHOP and wish that there could be an easier way for all of Lucy's specialists to communicate with one another. I am currently in the process of organizing all of Lucy's medical records so that we can be even more proactive with her medical care. We are blessed with the medical resources that we have available to us, but at times we feel frustrated with the enormity of our situation. This week we have several appointments scheduled. On Thursday, Lucy will see the metabolic endocrinologist, this appointment is very important to us as we are waiting to get more information on Lucy's abnormal metabolic labs from this doctor. We are hoping that he will be able to give us some answers to Lucy's growth issues as well as other symptoms. Her metabolic doctor is anxious for this doctor's opinion as well. We again are putting all of our proverbial eggs in one basket. On Friday, we have an appointment with the CHOP GI nutritionist. They are "squeezing" us in because their next available appointment was not until January 23rd. We are hoping to get a second opinion in regards to Lucy's NG tube feedings. Hopefully this appointment will be easier than our first nutrition appointment as we are more knowledgeable now with the process of tube feeding, the learning curve was steep! Lastly, Lucy has her nine month well check next Monday. In spite of all her medical issues she of course is experiencing all of the typical baby issues that a baby of her age should be experiencing teething etc...
Lucy has been making great strides in her physical development since the introduction of enteral feeding. Overall, her energy level has increased. We have noticed that she is a much happier baby when she is awake. Before supplemental nutrition Lucy was an excessively sleepy baby. We had a very difficult time keeping her awake for longer than an hour and a half. She was moody and really only wanted to be held by Mommy and sometimes Daddy. She is still a sleepy baby, but when she is awake she has more energy than she did before and is happy to play and interact with others. This is something that we have been waiting to see all her life. She is doing what most babies do when they are eight months old! She is beginning to babble and say da da. Why do they always say da da first? You would think that after giving birth, waking every night since even before the day she was born, changing God only knows how many more diapers than da da, and spending more than 90% of her life with ma ma, she could at least give me the honor of saying ma ma first! Non the less, it's cute how she says da da for everything even for ma ma. Lucy continues to surprise us everyday! On Thursday, she learned to pull herself up to standing in her crib. She was so proud of herself! Since discovering her new ability she has been practicing a lot! Recently, when you go to lay her down she stands up, only problem she does not know how to get down by herself. This is adding a new step to her bedtime routine, stand up and cry until mommy comes to put me back down again. We repeat this several times until she is too tired to do it again. I am hoping that standing will loose its novelty soon, but I too am proud of your accomplishments Lucy. Keep going girl!