Test Results

Dr Hollman called this morning when we were at PT...I called her back when we left.

First conversation with Dr Hollman:
Pyruvate was elevated again...both lactic acid and pyruvic acid have never been normal each time Lydia has been tested (4 times, I think). She had talked to both Dr Superneau (geneticist) and Dr Wood (pediatrician) about these results...they feel that it points to a mitochondrial disorder, though it is not definitive. The plan was to retest some amino acids that were tested when she was hospitalized at 5 weeks. These results would not necessarily give us much information...some mitochondrial diseases would have normal levels of these tests; some would not. These results would just possibly narrow down the possibilities in the field of mitochondrial disorders. Then we were to see Dr Superneau in a month when those results would be in. The next step would be to go to Atlanta where they have a specialist in mitochondrial diseases to do a full work-up to find out if, in fact, Lydia has a mitochondrial disorder, and, if so, a specific diagnosis of a particular mitochondrial disorder. Dr Hollman emphasized that mitochondrial disorders are very hard to diagnose...it is a long and involved process and can not be done here in Baton Rouge. She said that she does have a couple of patients who have been diagnosed with a specific mithochondrial disorder, but it is very possible for us to find out that it is mitochondrial- but have no specific diagnosis. It is all very confusing, I know...Dr Hollman said the same thing...basically, there are several different mitochondrial disorders...each with its own outcome. My questions: "Why waste our time with the blood and urine tests here since it would not give a definitive diagnosis...and the doctor in Atlanta could probably order these tests too...? Is there a sense of urgency...should we wait a whole month for these results if she may be able to take some type of medication to make her condition better than it would be without meds? What are the chances that her levels will have changed since the first time anyway?" Dr Hollman thought that these were all pertinent questions, and she was glad that we had a chance to talk. She wanted to talk to Dr Superneau about it to get his opinion before making any decisions. I told her that I trust her opinion more than my own, but it just struck me as something to ask about.

Second conversation with Dr Hollman:
Dr Superneau agreed...he was satisfied with not doing more tests here. Our new plan: call Dr Schoffner in Atlanta to schedule an appointment for a full work-up. Dr Hollman said she feels it is worth it to do this million-dollar work-up because Lydia's collection of symptoms suggests that it could be mitochondrial. She said that she would do it if it were her child...that's enough for me. Then, I asked her about something that some family members had brought to my attention after doing their own research: mitochondrial disorders sometimes appear in more than one child in a family. I asked if Elise's issues could possibly be related to mitochondrial disorder. She felt pretty sure that that wasn't the case since her symptoms are clearly very different from Lydia, but she thought it couldn't hurt to at least ask about that when we go to Atlanta. As a preliminary, she decided to order a test of Elise's lactic acid and pyruvic acid since this has never been tested before. She said that if those results are normal, she would drop the idea right there. I feel skeptical that Elise has mitochondrial issues, but I agree that it is worth doing a simple blood test to rule it out for sure.

I called the clinic in Atlanta...got the answering machine...left a message...will wait to hear back.

Elise's blood test is scheduled for tomorrow...along with an appt with Dr Wood for a possible ear infection...again. Please say a little prayer for Elise for her blood test...she's always been very brave for those, but it has been a really long time since she's had to do it...I suspect that she'll be a little afraid.

PT Today:
Great!! Susan was very pleased with the way that Lydia was able to hold her back straight in many different postures. She got her to hold herself up with her arms...head up...smiling at herself in the mirror! It was the most beautiful thing I had ever seen...absolutely the best job holding her head and upper body up! She gave me some ideas for stretching her back to help elongate her muscles. We also talked about how massage has greatly affected Lydia's progress. She said that Lydia convinced her that she needs to do some type of massage with every client who walks in her clinic. I know that it has helped Lydia tremendously. I was very proud of her work today!! :)