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.

Classical Conversations End of Year Presentations

The children had an end of year presentation/ceremony and everyone did their timeline song together.  Each class had their own little separate topics also.  Please forgive the poor footage, i was nursing and videoing with one hand, high in the air trying to get around a head that was in front of me.  I ended up not being able to make it though the whole song because 1. my arm hurt. 2.  Salem was done eating and started to fuss. You may be asking where Mike was during this whole ordeal; he was wrestling with Aggie in the back.  She is uncharted parenting territory and we are fish out of water sometimes. Lord give us grace!!! Enjoy the videos.



Hosea doing Latin



Shiloh doing the President Song

Aggie's Field Day

She took a little stroll in the gait trainer. She's not really a fan, but they keep trying.

Also amusing....

When Aggie is done eating she is in the habit of taking her bib off over her head and throwing it on the floor. This particular day I had left her in the chair a bit longer than she would have preferred.  She tried to take her shirt over her head and succeeded, but she didn't have the arm thing figured out so well.  Small things like this make me chuckle.