Please say prayers and send good thoughts Lucy’s way right now. We are having a very difficult time drawing the labs necessary for the tests she is currently undergoing.
She is on her second IV and it is barely working. We have used all of her access veins and her stamina up.
We have been anticipating this week for quite some time, but no matter how I am prepared I am not looking forward to what the next few days have in store for Lucy. Today we are getting admitted at CHOP to have her endocrine studies preformed as well as have her GI scope, and finally her PEG tube placed. This afternoon the plan is to get her IV’s in place. She needs to have a blood drawing IV as well as an IV for fluids, we have not had much luck with blood drawing IV’s in the past so cross you fingers for this one. Lucy will need to have an astonishing amount of blood drawn this week for her endocrine studies so a working IV is mandatory! One hour after she falls asleep tonight they will draw labs to check her growth hormone levels, apparently GH levels are at their peak one hour after you fall asleep. Lucy will need to do a mini fast before she undergoes a growth hormone stimulation test tomorrow morning. I will detail more about this test after we learn more. On Thursday morning she will undergo her GI scope and PEG tube procedure. After that I am not sure what will happen…
As Lucy is getting older it is getting more and more difficult to put her through any procedures! She is very aware of the hospital environment and has developed some coping mechanisms that amaze us and break our hearts all at the same time. We will be bringing our bag of tricks with us this week as well as some of our favorite blankets, binkies, music, baby carriers and my walking shoes. Lucy feels secure when I “wear” her in a baby carrier and we walk. She also finds tremendous comfort in hiding under her nursing blanket. In fact, she will often seek out her blanket and put it over her head when she is unsure of a situation, oh it is amazing what they know and how they cope!
Drew and I will be with Lucy every step of the way. I will update throughout the week. Thank you to all of you who have sent us your thoughts, prayers, and well wishes!!!! Please keep them coming this week , we can feel their power!
Just a quick update to let you know that we are still here, most of us are feeling better. Jack went to school on Monday morning, he was feeling back to Jack by Sunday afternoon. I however, have not been feeling well in the last 24 hours. “It’s never good when the mama is sick,” a quote from my darling husband. Off to bed I go, hopefully I will be good as new in the morning.
I know I say this at least a half dozen times a day.
“Sophie, can you please let Lucy have one of the twelve Barbies you are playing with. Remember, we are family and we share!”
“Megan, it would be nice of you to share one of your pages of your coloring book with Sophie so that she can color with you. We are a family and we share.”
“Jack, it would be nice if you let one of the girls be P1(Player one on the Wii) so that they can have a turn being in control. We are a family, we share!”
This is just a sampling of the things we share. Currently we are sharing some sort of funky wonky high fever, knock you off you feet, splitting headache, very exhausting, fast spreading virus in our house. It started with Megan who woke up with a 103 degree fever Wednesday morning, She looked awful, complaining that her ears, throat, and skin hurt. She was just plain miserable, and just wanted to sleep. She was most upset, however, that because she was sick she was going to ruin her prefect attendance record. Her class had been making a big deal out of the fact that she has not missed any days of school this year, apparently she was the only one in her class to hold this position up until Wednesday! Bless her heart, she has such a goal oriented personality that she was very disappointed in the fact that she no longer held her position. Jack very sweetly said to her if he makes it until the end of the year with perfect attendance , which by the way is June 17th, than he will share his award with her. I just love it when they do things like that for one another. It makes us feel like we are doing our jobs well as parents!
By Thursday afternoon Megan was back to her usual happy healthy self, just in time for Lucy to start acting a little off. To be honest, I don’t believe that Lucy had the same illness that Megan had. She was acting fussy, tired, and was more floppy than usual, but did not have the same high fever as Megan. She did not sleep well on Thursday which surprised me since she looked so exhausted. On Friday, however, she made up for not sleeping on Thursday by sleeping more than twenty hours. Lucy did have a low grade fever on Friday night, which is not unusual for her. What was unusual was the way she was acting, just plain miserable and falling asleep whenever possible. On Saturday morning she woke up acting more like her tiny little self, which made her dad and I feel better too.
As for Sophie, well she was doing great up until bedtime on Friday night. I was reading a Junie B. Jones book in our bed to the kids when she started to say that her tummy hurt. She had this “I don’t feel so good look” in her eyes which prompted me to take her temperature, sure enough she had a fever. It came on like that, an hour earlier she was eating a popsicle in the bathtub(the best place for kids to eat a popsicle in my opinion) happy and splashing, the next hour she was out like a light. She went to sleep in an instant and slept in until past 10:00 am Saturday morning, so unlike Sophie who we call our rooster. When she woke she insisted that she was feeling better because she knew that we had the Gore family picnic on Saturday and she didn’t want to miss it. She still had that look in her eye which said to us that she was not feeling well, but no fever. We went to the picnic with all intentions of leaving early. Sophie not once complained about not feeling well, she wanted to do it all: the rides, the train, the pony rides, eat cotton candy, get ice cream, slide down the big purple slide, and ride “The Tornado”. Before we knew it the afternoon had flown by, Sophie crawled into the stroller, pulled the canopy over her head, stuck her thumb in her mouth and called it a day. When we came home at 5:30 pm we bathed her and put her to bed for the night. All day she never complained about not feeling well; however, she did ask to go to bed when we buckled up in her car seat which is so unlike Sophie.
After we put Sophie to bed, I saw Jack lying in his bed reading. He said that he was tired, which is code for I either don’t want to clean up my room or I am not feeling well. Since I did not ask him to clean up his room, I knew that he was not feeling well. He looked tired when we left the picnic and complained that his head hurt, we knew he was getting it. By 6:30 pm he had a fever and we put him to bed with a garbage can by his side. Every time he gets sick he thinks that he is going to throw up. So far I am happy to report no throw up, but as I type this Jack is laying on the couch, with a fever, and a bucket by his side.
Whatever it is that is making its way around our family we hope that it has mercy on Drew and I. Neither one of us can afford to be sick! Hopefully the yuck stops here, and we are spared from whatever germs we are currently sharing!
Today I had one of those moments where I looked around my house and laughed silently to myself as I examined all of the things scattered around me. Drew and I often joke that if a criminal investigator came into our house and tried to put together a timeline of events it would not be difficult to determine what we ate for breakfast, lunch, or dinner. The dishes are often partially loaded in the dishwasher, sitting next to the sink, and sometimes left out on the table. They would also not have a difficult time piecing together what we played with that day or week, or what we wore recently. All too often the dirty clothes make it somewhere in the vicinity of the laundry room, but rarely in the laundry basket where they belong. If they looked in my van, well ,they would probably be able to put together where we have been in the last month, it has been a while since it has been cleaned out. As much as hate to write this one, on some days they might even be able to count the number of dirty diapers I have changed as I am out of Diaper Genie refills and I have been piling the dirty diapers next to the diaper pail to take downstairs the next time I go or whenever I remember, gross I know. Today I just smiled as I looked around because our home looks just like it should, lived in! I love having various sizes of socks and shirts laying around my laundry room floor. I especially love to see Drew’s socks next to Lucy’s. I love having piles of laundry for each member of our family stacked up in a row. Notice I said piles, with Lucy crawling around there is no way to keep a stack of laundry folded unless you fold it and put it away when she is sleeping. Unfortunately that doesn't happen very often, when Lucy is napping laundry is not a priority, our laundry room is upstairs near her bedroom. I love seeing the doll house family set up all over the girls room. I love even more that one of the members of the doll house family has taken up residence in Lucy’s room. She just loves to suck on their heads. I love looking in the bathroom and seeing an entire library of reference books on the floor. What can I say, our boy is an avid reader, of non-fiction books none the less! I love that Sophie’s favorite kitty is laying in my bed right where she put it when she came to lay next to me this morning. I love that Megan’s blankets are piled in the middle of her bed because that is where she sleeps. She sleeps with her head in the middle of her bed, never at the top of her bed, and never on a pillow. She sleeps in her bed the same way she used to sleep in a crib. All of these little messes constitute many of the events of our daily life. Sure, at the end of the day Drew and I will do the usual pick up and get ready for the next day routine. We might complain about doing the dishes, and folding the laundry, we might talk about having the kids become more responsible and have them clean up after themselves, and I am sure he will say something to me about remembering to buy Diaper Genie refills the next time I am at the store, but know that we are so happy that we have these things in our life to do and take care of.
Last weekend when I posted pictures from our Memorial day weekend I did not post any pictures of Sophie, mainly because we did not capture any good ones of Soph. Well, I am feeling a little guilty about that so I am making up for it in this post. By the way, recently we have been to a lot of kid functions where face painting has been popular. The pictures with the messy face that don’t look like a professional face painter did the work, are from our outing to the strawberry patch. For every one berry Sophie put in her basket two berries went in her tummy!
Enjoy!
We just love this girl!
Recently I realized, when talking with a few friends, that I may not have updated all of the most recent medical information. Information seems to be coming and going at an astronomical rate these days so I am going to attempt to fill in the blanks. This is as much for me as it is for those of you medical junkies out there. Writing all of these events down helps me to organize my thoughts as well as provide me with a way of sharing the latest with all of you.
Since March we have made a lot of realizations about Lucy’s condition. Humor me if you have heard these before, I am going to attempt to list what we now know. We know that Lucy is unable to grow without the aid of supplemental nutrition, we knew this before March, but have only recently come to grips with this reality. Lucy’s GI discomfort has improved some since we have stopped our attempts with solid foods and switched her to an amino acid based/no milk protein formula, Elecare. We suspect that Lucy has a milk protein allergy which is why she had so many “blow out” diapers on the other formulas. Lucy is continuing to grow on tube feeds and without these feeds we believe that she would be at a stand still on the growth chart, much like she was from her second month of life to her eighth. She loves to eat Cheerios, but we feel that she eats them not because she is hungry but because she enjoys the activity of picking up the O’s, putting them in her mouth, and chewing or swallowing them. We know that too many Cheerios in her belly is not a good thing, and we believe this is related to her body’s inability to digest foods the way most of us digest foods. She gets fussy and irritable when she eats too many, her stomach can get distended and she burps a lot, Cheerio burps mind you. Lucy’s G.I. doctor believes that she suffers from delayed gastric emptying (DGE), this means that food stays in her stomach much longer than average, thus causing her discomfort when too much food goes in at once. This is perhaps one of the reasons why Lucy only drinks about two to three ounces of breast milk in a feeding, three ounces is considered a great feed. We also feel that this is the reason why Lucy doesn’t tolerate a very high feeding rate on her feeding pump. She is happiest when the rate is at or below 25ml per hour. Because we have not had success with increasing her feeding rate, we have increased her calories per ounce in her breast milk and formula. An average number of calories per ounce of baby formula is 20, breast milk is equally about the same. We have increased Lucy’s calories from twenty to thirty calories per ounce, this is a huge jump in calories. Despite this increase in calories, Lucy’s growth has slowed down. She was gaining at a rate of a little less than a pound per month, and is now gaining at a rate of about a half a pound per month. We attribute this to the fact that she is more active now than she has ever been, thus requiring more calories on a daily basis. You would expect that because she requires more calories for growth that she would be taking in more calories per feeding or feeding more frequently. This has not happened! Lucy eats approximately every four hours, with a hand full of Cheerios twice sometimes three times a day in between feedings. If I attempt to feed her sooner, say every three hours, she nurses for only a minute or two before she pushes away. Now that she has teeth, she can do more than just push away from me! Lucy continues to take in anywhere from fifteen to twenty ounces of breast milk per day, this does not include night feeds. Since starting enteral feeding we have thought of night feeds as bonus calories since her night nursings are so variable. So, this volume is approximately the same volume that she was taking in on an average day when we started enteral feeding in November. It is amazing, not only to us but to many of Lucy’s doctors, that she has little to no appetite! This has been a symptom of Lucy’s that she has had her entire life. In fact, this was the reason that my “mothering instinct” brought me to seek the advice of or our pediatrician in the first place. Lucy would often refuse to nurse, and ate very sporadically for very short periods of time. Knowing what we know now, we understand why all attempts at adding additional calories via bottles or solid foods were not successful for Lucy. She could only eat so much and that was it!
Lucy sees eleven specialists and therapists. The consensus from all of these specialists is that Lucy does not fit the profile of a patient for any of the specialists that we see. Lucy’s multiple systems involvement has confused even the best experts in their field. All agree that she is dealing with something, that has never been up for debate, what it is and who she needs to see for diagnosis is what is up for debate. All of her specialists, aside from her metabolic doctors, think that what Lucy is dealing with is metabolic in nature. Her CHOP metabolic doctor believes that almost any disease can be traced back to metabolism, but that does not mean she can do anything about it. The lack of answers is what lead us to seek the opinion of Dr Shoffner, a mitochondrial disease expert. I think that it was fait that lead us to Dr. Shoffner.
While in Atlanta, we were able to hear Dr. Shoffner’s opinion of Lucy’s medical history. He told us that he believes that Lucy suffers with autonomic nervous system dysfunction, known as dysautonomia. Below is a statement taken from answers.com:
“Dysfunction of the autonomic nervous system (ANS) is known as dysautonomia. The autonomic nervous system regulates unconscious body functions, including heart rate, blood pressure, temperature regulation, gastrointestinal secretion, and metabolic and endocrine responses to stress such as the "fight or flight" syndrome. As regulating these functions involves various and multiple organ systems, dysfunctions of the autonomic nervous systems encompass various and multiple disorders.”
Dr. Shoffner believes that dysautonomia is the reason for Lucy’s lack of appetite, G.I. issues, DGE, fluctuations in body temperature, and generalized low tone. We had no idea that so many of Lucy’s symptoms could be explained by this. Dysautonomia in itself is an illness, but for Lucy it is related to a symptom of a much bigger problem. The best that we can do with this knowledge is treat Lucy’s symptoms individually, much like we have been. Dr. Shoffner is also looking at various neurotransmitter diseases as a possible explanation for Lucy’s symptoms. We were told before we saw Dr. S that he will look at everything, and at this point we feel that everything needs to be looked at . It will be several long months before we hear anything back from our testing in Atlanta. Personally, we are trying our best to forget about it. We are looking forward to the summer and are going to try and focus on all that life has to offer us!
Lucy had a series of endocrine labs drawn in December and May. The tests that were ordered in December, unfortunately, were undiagnostic , so more labs were ordered in May. These labs were looking specifically at Lucy’s growth hormones and thyroid function. Lucy’s thyroid has been looked at several times, as this was an obvious thing to investigate early on. However, her growth hormone was not so obvious, as Lucy has many symptoms that do not fit the profile of a person with growth hormone deficiency. Much to everyone’s surprise we found out several hours before leaving for Atlanta that several of Lucy’s growth hormone(GH) labs came back showing very abnormal findings. Her endocrinologist and Dr. Shoffner both believe that Lucy’s GH issues are secondary to whatever else she has going on with her body. Dr. Shoffner told us that mito patients can have GH issues. Lucy’s GH issues can explain her hypoglycemia, which is why we now feel that a fasting study is not necessary. Instead she will need to undergo several growth hormone tests when she gets admitted in June for her GI procedures and PEG tube placement. We are not sure what to think of these labs. Apparently, her thyroid numbers were on the low side, which is also new for Lucy. I will write more about the specifics of the GH testing in a later post.
As of Last week Wednesday we have the dates set for Lucy’s upcoming admit at CHOP. We will be admitted on Tuesday, June 16th and if all goes well we would love to be home in time for Father’s day! I spoke with Lucy’s GI doc about her GI procedures and he told us that he is going to combine her scope and PEG procedure in one! I didn’t ask why he is going to do this, I just thanked him for doing this as this now means on less anesthesia for Lucy! He just needs to work out who is going to place the tube, surgery or radiology. Miracles happen everyday and we are very grateful for this one!
I have written a lot and if you have followed me to the end of this post, congratulations. I feel better having written all of this! Thanks for all your thoughts and prayers, we know they are helping!
