Life has gotten in the way of blogging again. I have written several posts that are works in progress, and I’m not sure if I will ever get to posting them. I wrote one or two last week after THE MOST FRUSTRATING appointment we have ever had with Lucy’s metabolic doctor. That’s saying a lost since every appointment with them has been frustrating! Writing is therapeutic, but I am grateful that I chose to hold off on posting, as my emotions were all over the place last week. A week later, still frustrated and angry, I am better able to describe why it is I am feeling what I am feeling. We always leave those appointments with more questions than answers, and more confused than we were before!
Since our first meeting with metabolism they did not feel that Lucy “fit the profile” of a kid with a metabolic disease. She had severe growth issues which led them to believe that she had GI issues, and endocrine issues, and neurological issues….the list goes on and on. With every appointment we would come to them and they would say now she needs to be seen by this or that specialist, or she needs to have this or that done to rule out a diagnosis. It was after several months of this, and the instinct that there were some things not normal about our little one, that lead us to seek a second opinion. We are so grateful that we did, as many of you know, this second opinion gave us her diagnosis. Metabolism at CHOP feels that they cannot comment on Dr S’s diagnosis since they “don’t understand his testing methodology”, I kid you not! They also told us that it is against CHOP policy to contact Dr. S to discuss his methods of testing. Oh yeah, we have heard it all! They don’t feel it is necessary to “repeat her biopsy since they are certain that Dr. S preformed his testing on an adequate sample”. REPEAT, the entire reason we went to Atlanta in the first place was so that we would NEVER question whether or not her biopsy was preformed correctly! Just to make all of you want to jump out of your chairs and scream “what the ****”, they asked us to bring Lucy back in four months so that THEY could perform the new nuclear DNA sequencing that Baylor should have available by then. Dr S will be performing this sequencing when it becomes available. You should all be happy that I did not send out my first attempt at posting about this appointment :)
Finding a doctor who has any knowledge or experience with mitochondrial disease is a challenge. We feel blessed to have multiple medical resources available to us. Even with all of these resources, Drew and I have decided to take Lucy back to Atlanta in July for a follow up. Our hope is to discuss in detail Dr S’s report and clarify any issues we have about her diagnosis. Before we go, we have multiple appointments with many of Lucy’s specialists. We made a conscious decision to keep Lucy out of the hospital/clinic setting this past winter and as a result we have a backlog of appointments. This week we see neurology, diagnostic referral, and endocrinology.
Stay tuned for further updates.