Tuesday, October 29, 2013

Appointment with Dr. Longo

Dr. Longo is Leah's metabolic/genetic doctor, we meet with him yesterday! First of all walking into Primary Children's hospital is always difficult. Walking through the doors and smelling the hospital, smelling the hospital food and having all the horrible memories of all the times she has been in the hospital flash before me all as I'm walking to the doctors clinic. I was overwhelmed with so much emotion and anxiety.  All the emotion's of everything we have been through came to the surface. I had many times during the appointment and after the appointment of wanting to just crawl in a hole and cry for a couple hours. Yes, crazy things have happened for two years. But, the wonderful thing is I get to determine how I react to those things. As much as my poor body wants to go into shut down mode sometimes.  I will not let it, I will leave those emotion's in the past. I will keep moving forward... I will keep fighting! I will do it for Leah, my husband, my kids and most of all for myself! I had a diet coke and a little chocolate and I told myself to let it go!

About Leah's appointment...Dr. Longo feels that the GRIN2A gene may not be what's wrong with Leah. Chad and Leah both have a mutation in the GRIN2A gene...the big question is why is Chad normal and Leah isn't?!!! Chad and I have been wondering this ever since we got the test results.  So...he wants a full DNA sequencing done on her and maybe the whole family.  Well, this is CRAZY expensive!!! He said that the U of U is trying to get a grant from the government right now to do this genetic testing and they will find out in a month or so if they got the grant. If so, this can be done for free. If not, then we just have to see what our insurance will cover. We have always had a feeling that there was something else wrong with Leah. Dr. Longo said that maybe this gene mutation is just simply a mutation and not the cause of Leah's problems. He said we all have mutations. So, here we go again. Back to square one.

In the mean time... he is increasing her Serine supplement and starting vitamin B-12 shots. They also did a urine sample to rule out a couple things. We are also going to see a new neurologist.

We will keep fighting the battle!

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