Monday, August 3, 2009

Where do we go from here?

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First off, I want to thank all of you who have reached out to us this past year, particularly these past few days. Your support is so valuable to us, I know that we would definitely be more insane without the love and support we receive from all of you! Getting this diagnosis doesn’t really change what we are doing as far as Lucy’s care goes. There is currently no cure for mito, there is something called the mito cocktail which is a very specific compound of vitamins and enzymes that are said to help assist the mitochondria function and possibly slow the progression of the disease. Lucy is currently not on the mito cocktail, we will discuss with her doctors whether or not they feel this will be beneficial to Lucy. The effects of this disease are very individual and no two mito patients present the same, this makes this complicated disease all the more complicated. As for Lucy we know what her specific symptoms are for now, and now that we have an idea what is causing these symptoms we can make better decisions regarding her treatment. Knowing a cause does help!

Lucy

I have met many families this year who are living with mito, some much more severe than others. We are blessed in so many ways that our Lucy is really quite healthy in spite of all of her issues. I know now more than ever that this could change in an instant, and because of this we are really trying our best to LIVE life to its fullest. No we are not taking out our life savings and squandering it on some elaborate family vacation, rather we are taking extra moments to be more loving towards one another and to be grateful for the everyday moments that we have been given! I’m not sure when it happened or how it happened, I think that it was something of an evolution, but at some point we have settled into our new world of having a very “special” child. All of our children are special, each one of them makes our family what it is today and who Drew and I are as parents. We have learned so much from each and everyone of them; and sometimes, as in Lucy’s life, the learning curve is steep.

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I know many of you must have questions about this disease, I know we do and we have been learning about it for quite sometime. If you have questions please feel free to e-mail us or post a question in the comments section at the end of this post. If I get enough questions and I have or can find out the answers, than I will write a special mito questions and answers post. Who knows maybe we can all learn a thing or two about this disease that is said to be more common than childhood cancer. I have found the United Mitochondrial Disease Foundations web site to be the most informative resource http://www.umdf.org for information on mito.

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We were able to schedule an appointment on August 10th with Lucy’s neurologist. We are hoping that she will be able to help us formulate a more organized plan, if such a plan exists, for treatment of Lucy’s symptoms. She is willing to take the time to discuss Dr.Shoffner’s report in detail with us, for that we are so grateful. She is familiar with his reports as she herself has sent patients to him for diagnosis. In addition to the mito diagnosis Dr Shoffner detected, in Lucy’s spinal fluid, an abnormality in her 5-methyletrahydrofoalate level, which is considered a cerebral folate defect(CFD). He has prescribed folinic acid for treatment of this disorder. He does state in his report that “about 10% of patients with mitochondrial disease of various types and etiologies will have cerebral folate defects.” I promise this is about as technical as I will get with you right now, the report is lengthy and full of biochemical information and testing, all of which is very interesting but extremely scientific. We are going to discuss these findings with Lucy’s neuro before we start her on any medication, mainly because we don’t know very much about this disorder or the medication. Our metabolic group at CHOP has advised us to follow up with our neurologist as well, we have decided to wait to see our metabolic group until all of the testing comes back from Dr Shoffner. There are still tests out that will help further with the diagnosis, specifically DNA sequencing as well as several others. We have learned recently that two of the nation’s leading mitochondrial researchers are likely to be coming to CHOP. We are keeping our fingers crossed that all the negotiations for this go smoothly and that a CHOP mito clinic will open soon.

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We have been on such a roller coaster ride this past year, and I feel like we have taken many of you with us on this ride. How are you handling things? There are days were we are just tired of the whole thing! It takes a toll on you, but like I said we have learned to value each and every day more in this past year than at any other time in our lives. I want very much to blog about less concerning matters in the future and hope to be able to do that soon! Lord knows we have lots of less concerning matters to deal with on a daily basis, just look at the piles of mail I have to sort through on my dining room table and the piles of laundry on my bedroom floor that need folding. I will get to these less concerning matters soon I hope, but right now my priorities are focused on my family. The laundry will still be there tomorrow in greater number mind you, and the mail can hopefully wait just a little loner!

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P.S. The pictures are just random pictures from the past few weeks. They make me smile!

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