Quick brain unload

 We were on a month long road trip June 18th to July 14th ish. We went to MO to see my family then to OH to see Mike's then up to Cleveland where we were able to speak with a Doctor who had recently done research on children with PDCD and how the ketogenic diet affect them. The diet has had nothing but positive effects on these children according to the study. The Dr. spent an hour and a half answering our questions, it was so helpful!! We also learned some good news.
1. Aggie looks very well for a female with the disease. That she has any form of mobility at all is remarkable. We are so thankful, and hopeful that she may someday walk.
2. If a female with the disease lives to be 4 years of age she will likely live into adulthood.  Since Aggie is 3 and well, things are looking good for a longer life. Good news to us.

Mike is out of the Marine Corp, he has applied to the Navy Reserves and once he is in; he is hoping to apply for a full time job with in the reserves. He is currently unemployed and the paper work for this transition can take 1-6 months.  He's getting a lot done around the house now that we are home.

We went to a parent practicum for classical conversations, our home-school group, for 3 days in July.  I did the tutor training, as I'm going to be a "tutor" (aka teacher) in one of our children's classrooms when we all meet on Tuesdays.

We started Aggie on the Ketogenic Diet 4 days ago. She is officially in ketosis, which is the goal.  It is suppose to supply a more useable form of energy for her.  She won't eat much(which is not the goal), but is drinking her new formula well.  Her temperament is relatively the same, which has large fluctuations on a normal day, so it's really hard to tell how she's feeling.

Salem is starting to roll all over the floor to get to what she wants. She is nearly 7 months old. It's nice to see her progressing. She's pretty cute and sweet. We love her!

Salem getting cup

Things like this tickle me.  I think it's b/c most of the things Aggie has done/accomplished have been taught by much repetition. So I have forgotten how healthy little ones are naturally curious and try their luck with learning all on their own.

Salem is a prodigy, she has grabbed a cup :)

On this note: post Aggie parenting........ I still, to this day, every time I change Salem's diaper/cloths or even just hold her, I find my self being cautious around her tummy as if to be sure not to disturb her G-button.

Aggie one hand walking

We are getting closer!!!

Genetics-Pyruvate Dehydrogenase Complex

The Genetics Doctor called today.  The results of Aggies muscle biopsy are back.  The muscle was tested twice. One test showed 7% muscle function and the other showed 40% muscle function. 50% is normal. The reason for the variation is that PDC is an X carried gene mutation.  Girls have two X's per gene.  So if one X is 7% then the other could be pulling the weight. Based on Aggies "clinical findings" (small head, brain damage,ect) it is evident that the brain is affected by the mutation.  If Aggie were male she would likely no longer be with us.  Since she is female, prognosis varies, but rarely exceeds 20 years of age.  The treatment is a ketogenic diet. We will go to Birmingham next Wednesday to learn about it.  The diet is suppose to prevent further damage to the cells by primarily using fat for energy instead of carbohydrates.

This is a portion of wikipedia's definition that explains it well.

"Pyruvate dehydrogenase (PDH) deficiency is a congenital degenerative metabolic disease resulting from a mutation of the pyruvate dehydrogenase complex (PDC) located on the X chromosome. Although defects have been identified in all 3 enzymes of the complex, the E1-α subunit is predominantly the culprit. Malfunction of the citric acid cycle due to PDH deficiency deprives the body of energy and leads to an abnormal buildup of lactate."

Hello

Salem's 1st Giggles

I caught the tail end of her 1st giggles, before she was wore out.  Hosea was the entertainment, which is no surprise, since he prides himself in his ability to cause us to "crack up".  She had about 3-4 other giggles that I missed as I was rushing to find the camera.  I always pause prior to grabbing the camera thinking should I just stop and enjoy this moment, soak it all in.  Or should I miss part of it in an attempt to capture it to enjoy in future and share with others?  Dilemmas....... Then of course after i got the camera I got just one of the exciting moments and then................silence.........crickets....

Buddies

We may have some noise in our future :/



Hosea loves to play with Aggie.  Sometimes when she is napping he will be looking for her to play and will ask if she is napping, and be disappointed when he finds out she is. He is a sweet big brother to a special little girl.