Appt with Dr Schoffner

Thanks Tiffanie for posting an update to let everyone know that we made it here safely...and all is well. There is a wireless Internet network here at the Ronald McDonald House, but I can't seem to get a strong signal. I am typing now on a computer that is available for guests. It is nice here...snacks anytime....supper delivered every night...we have a room of our own and we share a bathroom with one other family. It has worked out so far. We got in so late last night... we all got to bed around 12:00, and we all slept until 8:30!?! I couldn't believe it! I guess Lydia likes Atlanta. :)

Through all of the chaos, somehow I missed an appointment we were supposed to have for this morning for an RMR (resting metabolic rate). I feel awful about it...we are trying to reschedule it for Thursday morning...Lydia has to fast for 12 hours prior, so Thurs morning would really be the only time that we could do it. If we can't schedule it, they said we would schedule to do it when we come for our next follow-up visit with Dr Schoffner...we will probably continue to follow-up with him at different intervals of Lydia's life.

Our appt with Dr Schoffner:
We had our consultation with him this morning. He was very nice and patient. We got lots of information...but mostly lots of questions that won't be answered until after the test results come in. Lydia will have a muscle biopsy, spinal tap, urine test, and blood test tomorrow starting at 10:00. We have to be there at 7:00 am to prep.

Some of the info we got today....
Lydia's case does not sound uncommon to Dr Schoffner...he said he has seen a "gazillion" like her...it's funny, since she has been such a mystery to all of her other doctors. But, in order to get a diagnosis, he must perform the tests tomorrow...then he will spend hours in the lab growing cells, testing, etc. We expect results in 8-12 weeks. He will then send a report to us and Dr Superneau and Dr Hollman. We will follow-up with them to discuss it, and then probably follow-up with Dr Schoffner to discuss the results and management of her condition. He confirmed that she does not have a "curable" disorder. There is nothing that can be done to make her brain grow the way it should...to escape some type of mental retardation. All we can do is discuss management of the condition to optimize her quality of life...medications may be possible depending on the diagnosis.

He said that the main symptoms that are alarming are her significant developmental delay and her lack of head growth....the seizure activity also lends more info. He talked about the increase in lactic acid and pyruvic acid...but, he said that more of the marker to him was her increase in alenine (sp?). The collection of all of these things suggests that there is some type of disorder...probably mitochondrial, could also involve Rett syndrome. The tests tomorrow will test for both, along with several other possibilities. He will write some notes today and tomorrow to give to us outlining all of the possibilities from what he has gathered from Lydia's medical record and our consultation. He warned us not to look on the Internet and to consider the source if we do...there is lots of info about mitochondrial disorders, and the field of mito disorders is so diverse that it is likely that we could work ourselves up about something that may not even be applicable to Lydia. He suggested to direct anyone interested in researching to thir website (google for Medical Neurogenetics). He has lots of talks and powerpoints to explain some things. Good news to us: Less than 15% of mito disorders are fatal, and he does not see symptoms in Lydia that would suggest that hers would be degenerative. Dr Hollman had also said that she would predict that since Lydia has continued to develop...that she would continue to progress, just at her own pace...whatever that may be.

He talked some about Elise's condition. He said that mito disorders are genetic, and it would be very rare for two different genes to be abnormal...so Elise and Lydia's conditions probably are related. (Boy, have we gone full circle on that??) The abnormal gene may just affect the two of them differently. He said that after we have a diagnosis for Lydia, we could then probably do just some simple blood tests on Elise to test her for some variation of the same disorder. He suggested that it might also be necessary to test Audrey...to be sure that there wouldn't be issues that could appear in adolesence or later related to the disorder....or that it wouldn't affect their offspring. That brought a tear to my eye...I pray that any children that our children have will not have to endure what Lydia has had to do.

He also said that in 60-70% of cases, he can determine the likelihood that future children of ours would have the same disorder...we don't have plans for future children...but, God ultimately holds that decision, anyway.

I asked for another explanation about what mitochondrial disorders are, since I still have trouble wrapping my brain around it all. He confirmed that every cell in your body has a mitochondrian, but they may not all be affected by the disorder. Typically, the disorder affects one main organ and possibly other cells in the body. So, in Lydia's case, it affects her brain. We shouldn't be concerned about it affecting her heart, lungs, etc. Dr Schoffner agreed that there is lots of info and it is very complex. He told us not to expect to understand it in 1 or 2 visits with him. So far, he's right. I certainly don't understand it all...never have, not yet anyway. So, I've shared what I've gotten so far. I probably can't answer any further questions. I'll try to share some of the info from the notes that he writes for us.

Keep Lydia in your thoughts and prayers tomorrow for her procedure. Love to all!!