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!

Happy New Year

Happy New Year to you! We are so very excited to see what this year will bring for Jules and our family. I wanted to give a little update on how 2017 is going thus far! Well, we started the year off with a bang! We are back to our intense therapy schedule, Jaylene and Dylan are back to school and start soccer and baseball soon and my husband just works too much! Our life is beautifully chaotic and I cherish it!

So, we all know that Juleyana loves to put EVERYTHING in her mouth. We found out that clear, scotch tape is hard to see in an 18 month old's throat. Yes, I said tape!! Juleyana had a 1.5 inch piece of tape stuck in her throat which we discovered on January 2nd.

 The story goes... January 1st, later in the evening, Juleyana began to cough and seemed to be gagging on her mucous (gross I know, but that's what it seemed like). We looked to see if she was choking on something but couldn't see a thing. This momma didn't want to take her to urgent care at 8pm (because that place has the worst germs around), so we waited until the next morning when the situation got worse.

 She woke up January 2nd coughing, chewing and gagging even more. (Note: she slept on momma all night long so I could keep a close eye on her). I decided to rush her to urgent care.  There, the doctor put her in an intubation position, used the light and tongue depressor just to check her throat for strep or something. He found the tape way back and into her throat. Let me tell you, this was so embarrassing as a mother and nurse, but the doctor assured me that we wouldn't have seen it without the tongue depressor.  My first thought though was thank god we had the outcome we did, the tape could have blocked her airway and we would be in a different situation. So, a big thank you holiday season, for the over abundance of tape laying around!!! 

She is now back to normal, no cough and happy as usual. Big sister was doing a project with tape by the way and NO, it was not hers nor anyone's fault for this incident. Just another keep us on our toes kind of moment!

We also have had a couple of appointments.

January 17th we had an eye appointment to see the optomologist. This is one of the first appointments in a year where we walked out with a smile our faces! Juleyana's eyes are in great shape! No structure problems, and retina intact. "Beautiful eyes," he said. "And I can't sell you glasses." Phew! We will test her actual vision at a later time.

January 17th we also had a Neurology follow up with Dr. Yu. This appointment also went well. Dr. Yu is a man of few words, straight to the point, spot on and good at what he does. He assured us that she is doing very well and we are doing everything right at this time. We will have a follow up MRI in August of this year to compare with her first MRI. We will continue anti seizure meds at this time and pray they continue working so well. It often happens that anti seizure meds have to be changed due to the lack of success with preventing seizure activity. We will have another neurology follow up 4 months from now.

.

.BEE BUZZ.

-Weighs 20.10lbs

-Pulling to stand and cruising along the couch

-Gives sweet kisses

-Loves her bath at 6:30pm

Sometimes life doesn't always turn out as we expected, but when we open our hearts we find joy in the gifts we have been given. Our dark room begins to shine a bright light from within, and guide us to the most beautiful destiny. 

When I look at our baby girl, each smile brings me joy, each tender kiss melts my heart, and every gain towards progress makes me proud. "This little light of mine, I'm gonna let it shine!" To a happy and healthy 2017!