Baby Steps

We were supposed to see the famous Dr.VH today, I was very anxious to see him, families fly across the country to see him. He is like THE MAN! Buuuut he had an emergency and had to fly to Europe. So we saw Dr.T. Areli likes her. She has seen her before and throughout our journey to a diagnosis, Dr. T has called often, just to check on us. We have been lucky, we have had great doctors throughout this. Dr.VH passed along everything he needed so D.T could fill in for him. To start, I guess I need to back pedal to Monday where Areli had bloodwork done to test for different mito genetic disorders like respiratory chain defects and lysosomal defects and more I just can't remember all the names. Today, Dr.T informed us that Areli's liver biopsy was VERY fatty. Worse than her biopsy from 6 months ago, which means her disease is progressing. Ironically, her liver panel is the lowest it has ever been. (?) confusing. My impression is they think it is mito over CESD.  However we are still testing for it, which is pending, and they believe if she does have it she has a milder form of Wolman's Disease. As for mito, her biopsy revealed Complex III Deficiency. This test usually takes 2-4 months to perform, but Dr.VH expedited it, so we got the results in a week. While I am happy he got it faster for us I have to admit I am very confused as to why. This doctor deals with SICK children everyday. These tests that take months are nothing new to him, so why'd he speed up ours? Like I said it sucks to be the family that needs VIP treatment, but if your child's sick, it's nice to have the VIP. Dr. VH sent off another piece of her biopsy to be retested to make sure this wasn't a fluke and if Complex III Deficiency is apparent again they will test 4 specific genes to find the mutation. We have hope that she would have a milder form of Complex III because so far no renal involvement has presented, however they tested her kidneys today to monitor them for involvement. Hopefully Dr.VH can expedite this round of testing as well!
Areli rolled over from back to tummy for the first time months ago, but didn't do it again, until the past couple of weeks she has done it a handful of times. She has never gone tummy to back, regardless of the amount of tummy time. She can push her chest up off the ground and working on getting her butt up. If I put her in the "crawling" stance she will stay like that for awhile, but not make any attempts to crawl. She loves to stand and will "walk" assisted, but will not roll over or try to crawl, so we are starting therapy to help her so she doesn't fall behind. Some babies skip crawling and go straight to walking, but I think if my girl is already going to have problems with muscle weakness she needs to start young building all her muscles to be as strong as they can be. I refuse to let her miss a milestone, so therapy it is!!

Love, Mama Linnea