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An attempt to fill in the blanks…

June 1, 2009

March 31, 2009 to May 20, 2009 142

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  

“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!

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Anne said...

Nicole - Beth P gave me your blog address. We have met at church the few times you came with them to Willowdale. I'm so glad to hear you are closer to getting some answers regarding Lucy and her health. I would love to talk since we are facing somewhat similar paths forward with our daughters, well not really that similar in terms of symptoms but in terms of not having a diagnosis. And since we live about 10 minutes from each other :)

Continuing to pray for you family and Lucy! Anne