Hello everyone! It's been a while since we have had any news to share regarding Maddie. For the last year we have been able to maintain no seizures and overall health! 

On Thursday, Maddie had an MRI and an additional scan called a spectroscopy. We arrived to the hospital dark and early before she was put under anesthesia for the scans. The recovery from the sedation went great and was absolutely uneventful, which is exactly what this momma prefers. We saw the neurologist a couple of hours later even though the results of the scans weren't back yet. Dr. Meddles (Maddie's neurologist) called me when I was on my way home and gave us the results:

Maddie's brain has continued to grow since the last MRI, which was on June 27th, 2019. Some of her white matter has filled in and the gray matter has continued to grow. There has been a fluid filled area (it was present on the first scan) that has continued to grow with her brain but does not seem to be a current concern. The neurology radiologist noted "brightening" of Maddie's brain during the scan. I have not confirmed exactly what this means because the call was filled with a lot of information and questions are continuing to accumulate. Maddie's cerebellum has also lost mass since the last scan. The cerebellum is what is affected if you were to get drunk; motor skills get sloppier and eventually jerkier. This will likely begin to happen to Maddie. If she spoke, her speech would be slurred. The spectroscopy basically tests the chemical composition of her brain. There are normal peaks and valleys on the graph that shows the results. Maddie had some abnormal peaks, there was a double peak on one certain chemical. Again, I'm not quite sure what that means as of right now because I want to further clarify with her doctor. The most concerning result regards her mitochondria in her brain which appear to be dysfunctioning. Mitochondria is present in every cell and is responsible for the energy of each cell. The dysfuntion is not clear to me, and I will be asking more questions and looking for further clarification on this, but we know it is not a good thing. There appears to be degeneration and the doctor's words about her brain functions were "deteriorating" and she is very concerned. 

There are concerns about her future progress and what her future will look like. We are continuing to do the therapies that we have been doing for the last year to hopefully help. Further genetic testing has been ordered to see if there is a specific diagnosis for the mitochondrial disorder. The genetic test she had done in the past looked for missing, extra or mutated genes. It did not test for elongated genes which is what they are going to be looking for now. Dr. Meddles thinks this will hopefully give us a more definitive diagnosis and prognosis. Right now, we are still processing and have a lot of unanswered questions. We wanted to give everyone an update as a whole and know you all might have questions as well. I will keep this up to date as more information comes in and right now we are just focusing on loving Maddie and taking every day as it comes.