Emma’s Grace

I am so far behind. I know I have a hard time keeping up with this blog. Thank you all for putting up with me.

There is so much new stuff to tell. Let’s see if I can remember it all.

Food
Emma is really taking to eating her food. She has mostly stopped pushing it out with her tongue. She does have a knack for only pushing out the larger chunks that I’ve missed with the blender. Her favorites are mostly the orange foods: carrots, squash, sweet potatoes. She did like the macaroni & cheese I made for her and the carrots & potatoes I cooked with the roast. I’ve blended up some roast to give her, so we’ll see how she likes that. Fork-smashed peas were not her favorite, though I’m not sure if it was the flavor or the texture.

Neuro
So far, our neuro appointments have been going well. We’ve had an EEG that came back normal. Dr. McCormick was pleased with her changes. Obviously, Emma is still behind, but the progress she’s been making is great.

We decided that due to Emma’s inconsistency in responding to noise, we would give her a better hearing test. The brainstem auditory evoked response (BAER) test  is performed to help diagnose nervous system abnormalities and hearing losses, and to assess neurological functions.  The test required her to be sedated. We kept her up late and got her up early.  After getting the very small dose of sedative, she was out.  The tech hooked up 4 electrodes to Emma’s head and put a set of headphones on her ears.  For 30-40 minutes, different sounds and tones were played in each ear and the electrodes were able to tell if the sounds were making it through the proper channels to her brain.  We will find out the results of this test at our next neuro appointment at the end of February.

Ophtamology
We had another visit with Dr. Baker.  With her exam and dilation of her eyes, Dr. Baker determined that her vision was worse than our previous visit.  We discussed Emma’s use of Vigabitrin and how it could effect her peripheral vision.  Dr. Baker said he would talk to some colleagues in Canada about this, since they would know more about the drug.  Vigabitrin is the drug that Emma takes to keep the IS seizures suppressed.  Dr. Baker mentioned that we may want to do a ERG (electroretinogram) to measure the electrical responses of various cell types in her retina.  This would give us a better idea of how the Vigabitrin was effecting her.

PT / Early On
Emma has been making tremendous progress with her PT.  At least as a mom and dad who watched our baby go from being a relatively normal 3 month old progress and regress over the next 4 months, we think it’s amazing.

Emma’s PTs and OT comment each time about the progress she’s making.  At the beginning of our Early On sessions, the people involved did an assessment of Emma and the things she was capable of.  It was these assessments that qualified her for both PT and OT each week.  The PT, OT, and general coordinator each set 3 goals for Emma to reach over the next year.  The PT has stated that Emma has reached the PT goals already.  At the moment, I’m not sure what the new goals will be.

Emma can hold her head up more consistently while on her belly, will sit up straight with support at her hips and lower back, has much better head control, will hold an item for a few seconds, sometimes makes consonant and vowel combinations, and reaches out to explore the world around her.  Emma also has no problem expressing herself with fussing and crying, something that we went months without hearing.

Genetics
We had our first appointment with a genetic counselor last week.  With the high hydro phenyl acedic acid in her urine, Dr. McCormick wanted us to talk to a geneticist, Dr. Bawle.  After giving a family history, Dr. Bawle examined Emma.  She explained to us that it was possible that a genetic mutation could cause Emma’s IS.  A usual symptom of such a mutation can manifest in a physical way, facial features being different or other deformities, however small, on the rest of her body.  Emma doesn’t really have anything like that on her body, so Dr. Bawle didn’t think it was a genetic deformity.  But to be on the safe side, she suggested getting a chromosomal screen done the next time we have blood drawn for tests.  They also ran another urinalysis and the results came back the same as the other tests.  There was a high amount of the aforementioned acedic acid, though it wasn’t as high as the other tests.  It is possible that the acedic acid is a by product of the phenobarbital that Emma is taking.  We have been weaning her off of the phenobarb.  The lower level could be indicative of the weaning.

Overall, Emma is doing great!!!!  She is very alert and loves to look around and take in her environment.  She has even moved on to smiling and the occasional laugh, something I wasn’t sure we would hear again, or at least not for a very long time.  We continue to take each day at a time and are so happy at each little milestone she reaches.  It gets easier each day to be hopeful that Emma will make it through it all and be an amazing, beautiful little girl.