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.

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