Metabolic Geneticists

UPDATE:

January 23, 2017
Our alarm sang at 4am! We set out on a cold, rainy morning and headed for a two hour drive to Kaiser LA. Nothing like driving to LA with morning traffic, right?!  Well, the freeways surprised us and we arrived an hour early to Juleyana's  appointment!
We met with the Metabolic Geneticist, Dr. Vats, the man who wears white socks with trousers. :) Despite the socks, my husband and I were very impressed. He sat with us for a long while, discussing the genetic process of the disorder Asparagine Synthetase Deficiency on the ASNS gene, potential treatments and the possible outcomes of the disorder.
He confirmed my thoughts and this is a spectrum disorder. This means, not every child diagnosed will display/have signs or symptoms of this disorder. That being said, this disorder affects the brain growth and development. Luckily for us Juleyana's  brain structures are intact. Her white matter is decreased, but we are hopeful that it will continue to develop, even if at a slower pace.
Dr. Vats has many ideas floating around that could possibly work with Juleyana. Long story short, based on his recommendations we will do a spinal tap to see how much of the protein asparagine Juleyana produces. This will be done with her follow up MRI in August of this year. Along with that, he recommends doing a MRS which scans the levels of chemical components within the brain.
Another recommendation was to do frequent feedings and try to keep her from fasting (not eating for long periods). This should be fun and interesting as lately she has just wanted avocado and cottage cheese!! She refuses to drink Juice, but if it is plain water she sucks the sippy cup right down!
With the August 2017 results, we will also be ruling out any other possible causes of the decreased white matter of the brain. And, as with every other doctor we have seen, he is amazed at the progress that Juleyana has made and believes/is hopeful that she will continue to progress. Dr. Vats also confirmed that Jules is the ONLY case diagnosed within all of the Kaiser system. We picked his brain in regards to this genetic disorder being underdiagnosed/misdiagnosed and he agreed.
We are anxious for our August results!