It's Official.....

We had another appointment at Children's today. This time it was with Dr. M again. It was like every other appointment we have had. I pulled into the over-crowded parking garage, this time I was lucky and found a snow banked spot near the front. I gather up Areli and our belongings and head for the main entrance. Everyone at Children's is always very friendly, a glance and a smile or a "have a good day". We check-in, get her hospital bracelet (which made Areli very happy she smiled as I put her jewelry for the day on her wrist) and head to the couches under the big letter "D" hanging from the ceiling. It wasn't long before we were called back. Then it is the process of getting Areli naked, weighing her, measuring her head, her height, temp, and blood pressure. Today she came in weighing almost a pound less than her last weigh in 3 weeks ago. Then Dr. M came to see us. Areli likes her (so do I). We start like every other appointment, how has she been? how is she eating? anything different? anything you are concerned about? I really wasn't expecting this appointment to be about much, I thought it would be just a regular appointment...
Dr. M starts to tell me that Areli does indeed have Mitochondrial Disease. Mitochondrial Hepatopahies(-of the liver).
I always thought the moment they told me what she has I would become an emotional mess, it's been a long time coming getting a diagnosis, but I guess because it has been a long time coming that I was ready for the diagnosis, I mean it's not like they just threw Mito at me, we have been exploring Mito for awhile now. I knew what to expect. We still have more specific tests being done to try to put an exact name to which Mito disease it is, then that will give us more of an idea of a prognosis, quality of life, etc that she will have.
we go on to speak about her "episodes" I wrote about last post. Since seizures are common in Mito we are now seeing a neurologist and will have to have a 24 hour EEG, which means another night in the hospital. Sadly, neurologists are a hot commodity because the next available appointment is for April 8th. If she has more episodes one after another again like last week they will admit her and we will be able to expedite the wait.
Then we spoke about how she lost almost a pound in less than a month.Since she isn't crawling yet and she is eating more because we have introduced more solid foods, there really is no reason she should be losing weight so we met with a nutritionist to see what we can do to up her calories even more!
 I wrote earlier this month about her needing physical therapy.(We haven't started yet). Since Areli doesn't babble (she just growls, a lot) they also want to do speech therapy. In an effort to do early intervention we will be starting speech therapy, physical therapy, developmental therapy, and occupational therapy. The works.
 Lastly, since Mitochondrial Hepatopathies is so rare, they asked us to participate in a research study. There are less than 200 patients in the entire country involved with this study. Basically they will follow Areli for at least 5 years through her journey with Mito Hep in hopes that they can learn more about this disease to help little babies in the future that are dealt the same cards as our Areli was. Although this study most likely won't help our girl, I strongly believe in letting doctors learn from our life and Areli and her experiences.

Love, Mama Linnea