So we begin Week 5 straight here at OLOL, but we've been here now for 7 of the past 9 weeks. (Remember we got those two weeks "off", when we got our sleep study and braced for Gustav). We have lots going on while we wait.
Friday we got our muscle biopsy results. The good news, is that whatever we have is not a mitochondrial disorder. Mitochondrial disorders are typically quickly progressing, meaning most children have a life expectancy of about six years old, but many are lucky to make it to eighteen years old. There is also no cure for mitochondrial disorders. So we are happy not to have this diagnosis. Another advantage is that we still don't have an indication on life expectancy, so we aren't always waiting for the other shoe to drop, so to speak.
The mixed news is that we still don't know if it is genetic or not. We still don't have all the answers yet, or a diagnosis, but our neuro will be sending the results off to our geneticist at Texas Children's, and is even consulting with an old professor in genetics. Whatever we have is so rare at this point - that the more heads that are processing all the information, the more chance we have at possibly pinpointing something. Here is what we DO know... his muscle shows increased levels of lipids and glycogen, and one particular protein looks slightly abnormal - it's called dysferlin. Dysferlinopothy (abnormality in dysferlin) is typically associated with Muscular Dystrophy, which we have already been tested for and do not have. So really all we are able to conclude at this time, is that whatever syndrome we may have, it might be similar to MD. So we have to assume it may also be degenerative, but we still remain hopeful and focused on enjoying every day we have with him and doing things with him as we would with any normal child.
So today we have an MRI done, since it's been over a year, and at a young age the brain grows and changes so much - it's a good to see if there are any changes or if we see anything new.
Today we also had an EKG/ECG (electrical heart activity) and echocardiogram (sonogram of the heart function) done on his heart. The echo results show less than normal productivity, so we will also now be seing a cardiologist. We don't know yet what this means, but if Braden has slight muscular abnormalities (muscle myopathy), then we must also consider that the heart is the biggest muscle of the body, and his syndrome may also affect the heart too... but just because the heart is a muscle and a biopsy came back with some abnormalities, the heart muscle is very different and it's own category comparatively, but we are trying to be proactive at this point.
The bottom line is, nothing in life is certain, even a diagnosis. We have only continued to push for answers because we still want to have more kids and we really want to be informed as we plan for the future of our family. We will continue to love Braden the best we know how, for however long we are blessed to watch over this special child.
Our neighbor Kathy came by today to bring Braden a new frog - isn't it sweet?
The other photo is depicting some therapy: the therapists gave Braden half tennis balls to tape his hands too to keep them outstretched and in a relaxed position... you can imagine that keeping that thumb of his tucked in between his index and middle finger is creating a constant gap, even when his thumb isn't wedged in between them. While it's one of the special things that makes Braden so adorable to me, I know at some point he will need to overcome this "new normal" as he eventually figures out how to use his hands to grasp and hold items.
We will post more pictures as we take them. We now know how much you love them! Kodi, Brad, and Braden