A Diagnosis

Positive for Mitochondrial Disorder
Negative for Rett Syndrome

We had an appt scheduled with Dr Hollman this morning after therapy. She did not have the results yet when we went to see her. We discussed some little episodes that Lydia had been having in the last couple of weeks...leg jerks, loud yells that are not characteristic of her cry (and for no apparent reason)...then, this morning she had what Martin and I were pretty sure was a seizure. I was holding her....her whole body started to tremble, and she had a frightened look in her eyes, and she let out a couple of short loud cries (about 10-15 seconds altogether). Dr Hollman determined that all of those little episodes were probably seizures, so she decided to put her on a seizure medication...Keppra. She will take it twice a day and we will start with a small dose and increase gradually to a full dose (1.5 ml). Lydia's head growth continued to slow down...it fell even more off the chart this visit. Dr Hollman was very concerned with her lack of development...though she was glad that she has shown some progress...she picked her head up for her while we were there.

About 30 minutes ago (at about 3:00), Dr Hollman called us because they just received a fax of the results from Atlanta. We were both relieved that it was not Rett. She said that she didn't have a chance to really look into the report in depth...she wanted to call me right away. There was no specific name for the mitochondrial disorder that she saw. She listed a few of the symptoms...some big words that were Greek to me....I figured we'd get more info about it when we meet with Dr Superneau. I asked her where it fell on the spectrum...she said, "severe." I asked her if it all added up to her..with what she knows about Lydia's symptoms....she said, "it makes perfect sense." She wants us to see Dr Superneau to discuss the report in depth and then follow-up with her by phone. She wants us to continue the plan for the Keppra and to add another medication for Lydia, but she wants to get together with Dr Superneau first so that they can discuss it.

We have an appt Wednesday morning with Dr Superneau to discuss the report and expected outcome. After we meet with him, we will decide if we want to make another appt with Dr Shoffner in Atlanta for further clarification.

Thank you for keeping us all in your thoughts and prayers.