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I've been doing more and more research, little by little to learn more about Lydia's disorder...I don't like feeling lacking in knowledge. We are so lucky to have Dr Hollman. Although she has seen this rare disorder few times, she is so committed to helping us...she is making lots of phone calls to be sure that we are giving Lydia the best care. She called tonight to discuss some questions that I had. She gave a little more info as far as prognosis than Dr Superneau was willing to predict. She was very honest...which meant realistically negative. She said that based on Lydia's limited progress so far developmentally, she would predict that she will probably never walk or talk. She said that if Lydia is not walking by 7 or 8 years old, we can assume that she never will...the same is true of talking...if she is not saying much by age 7, we can assume that she probably never will. We both agreed that this prediction is not a reason to ever stop trying. She said that we should continue therapy and continue praying because God might grant us a little miracle....we know that He has given us reason to believe in His miracles. As far as life expectancy, she left that more open-ended. She said that Lydia may very well live a long happy life....or she might have an early death. There is no way to know that right now. Dr Superneau had explained to us yesterday that any illness could be serious and possibly life-threatening for her. For example, if she were to contract pneumonia, she would be at a higher risk for serious complications because her body does not have the ability to cough vigorously or to roll over to a more comfortable position or to sit up to avoid stuff settling in her lungs. Basically, this means that we have to take extra precautions so that she does not get sick. Even minor illnesses to typical children could send her to the doctor or hospital. Recommendations have been to avoid any person who might have any type of illness.

Dr Hollman is going to call Dr Wood and Dr Alberty to discuss with them the decision of pursuing the G-tube. I like the idea of all of her doctors talking together about it so that we can make an informed decision. We talked tonight about the importance of staying hydrated and well-nourished...we all know how Lydia refuses to eat when she is sick or has some type of distress going on. What I'm learning is that the fasting could lead to metabolic stress, which (from what I understand) means that her cells have difficulty functioning because they are not getting what they need...especially since the energy source (the mitochondria) are not doing their jobs. Dr Superneau also told us yesterday that her brain and muscles are most affected because they are the systems that require the most energy.

Dr Hollman is also going to call Dr Shoffner to gather more info to share with us. Dr Shoffner's practice is not to speak with families over the phone...and he is actually not making follow-up appts anymore either...he only speaks with physicians to make recommendations...he is so busy with the lab and diagnostics.

More sites that I found helpful today:
http://www.umdf.org/atf/cf/{28038C4C-02EE-4AD0-9DB5-D23E9D9F4D45}/Mitochondria-An_Overview.pdf
(An article that provides an overview of Mitochondria and how they work... and don't work)

http://www.boston.com/partners/worldnow/necn.html?catID=85603&clipid=1022185&autoStart=true&mute=false&continuous=true
(a news clip that overviews mitochondrial disorder...a family story and an interview with a doctor)

About Elise....
Dr Shoffner said in March that he felt it very likely that Lydia and Elise's conditions were related. He is now awaiting ok from our insurance company to begin further testing of Lydia's cells....DNA sequencing to determine how Lydia inherited the condition...which may shed light on affects to others in our family. Dr Superneau, on the other hand, believes that Lydia and Elise's condition are two entirely different entities. The reason: Elise has some different facial features which are considered dysmorphisms...which means different (not abnormal or "sticking out in a crowd")...just different from our family...small, spaced teeth, large forehead, bridge between her eyes, spaced eyes, inward turned toes....this makes Dr Superneau think that her condition may be chromosomal. His thoughts are this: If Lydia and Elise have the same condition, and Lydia's condition is more severe, then she should have more severe dysmorphisms...but, Lydia does not have any dysmorphisms....so, he thinks their conditions are unrelated. Our next plan for her is to do a chromosomal micro-array (sp?) to further test for chromosomal syndromes. She has been tested for different syndromes in the past and all have been normal, but this test is a new advancement in medicine, so it won't hurt to test her just in case...it is a simple blood test.

That is all for now....my brain has much more than this...it comes back to me in bits and pieces...I will try to share as it comes. Thank you all so much for your prayers and concern and your notes of love and prayers. Please know that it all touches my heart and the lives of all of us!