Friday, July 10, 2009

Asa's visit to Medical Neuro genetics in Atlanta, Georgia July 8-10, 2009

First of all, I do not even know where to start... These past few days have been a mixture of information, anxiousness, and at times, a mixture of "why Asa?". However, I will do my very best to explain what we are now looking for in Asa.

Dr. Shoffner met with us for what it seemed 3 minutes, but really was 3 hours. He is a very brilliant doctor and showed much empathy in helping find what is going on with Asa. I was very impressed on how he already knew Asa's medical history down to how many ultrasounds I had. I did not have to remind him of one procedure, sickness, emergency room visit, or medication. Dr. Shoffner definitely did his research on Asa's medical background. It was very refreshing knowing how he was already so prepared on our coming to Atlanta.

I will not go into what was actually discussed, but I will summarize the main points. On Thursday, Asa had a muscle biopsy on his left thigh, a skin biopsy, a lumbar puncture biopsy, blood and urine drawn, and a RMR. Along with an extensive evaluation by Dr. Shoffner. Overall, these biopsies were chosen for these various disorders listed below that Dr. Shoffner is suspicious of. I have no idea which one it will be, or which two it will be, or if it will be any of these at all. Dr. Shoffner felt like there was a 70% chance of Asa having one or possible a mixture of, these disorders. The tests will show. It will take 6-8 weeks for the results to come back. He did inform me that of all these disorders that he is testing for, he does not see anything at the time that would be catastrophic for Asa. However, some of these disorders do have shorten life-spans, but he instructed me to not focus on that and to stay off the INTERNET!!! I me...

LIst of disorders Dr. Shoffner is testing for with Asa
  • MItochrondrial Diseases
  • Rett syndrome mutations (X-linked disorder)
  • Cerebral folate deficiencies
  • MCT8 Gene Mutations (X-linked disorder)
  • Disorders of creatine metabolism
  • Fragile X Syndrome
  • X-linked mental retardation (there are several different types of gene mutations that were explained to me. )

As of right now, I am in Macon with my mother and family. Asa is with me. We have some doctors appts. here on Monday. HE did great during the procedures and during the anesthesia. He has been more irritable and groggy than the surgeries before, but they told me at the surgery center that is probably due to the amount of spinal fluid that was taken yesterday. I appreciate all of your prayers, encouragement, and words of advice. This is going to be a long 6- 8 weeks. I know it is. I know that during this time I will be tempted to do my own research on Asa's case, I will be tempted to speculate, to assume, to have my hopefulness turned into fear for my son...I know that this is in my future, especially in the next couple months. However, I must remain strong, for Asa, my family, and I must not let anything, any emotion, any thought, or Satan, get in the way of my special assignment. I thank God for giving bringing Dr. Shoffner to Asa. I thank him for what I know now and I thank him for what is to come...thanks for listening...

I have posted some information about mitochrondrial diseases. There are several hundred different types of mitochrondrial diseases. The following is the website to the clinic/doctor that we were at these past few days. It has some helpful and confusing info on there too!

Wednesday, July 1, 2009

What a day...

Today the pre-op nurse called from the Surgery Center where Asa will be having some of his procedures done next week. I was on the phone with her for almost an hour going over past medical history, medications, etc. about Asa for the anesthesia. During the conversation with the nurse, whose name was Sherry, I had an unwelcome visitor come into my mind that made me feel so frustrated, doubtful, sorry, and anxious. I became easily frustrated with this pre-op nurse who was only doing her job, but I get so tired of answering the same questions over and over again, that I start to think that NO ONE (meaning doctors, nurses, etc.) read Asa's charts, notes, medical records, etc. I mean, sometimes I get so frustrated with the actual process and routines that sometimes I ask myself if these people really know what they are doing. Is the reason why Asa does not have a true diagnosis because these doctors don't read anything that they ask for me to send them. Anyways, as I mentioned earlier I said that I felt an unwelcome visitor come into my mind that made me feel this way. We all know who that was...the stupid devil!!!!! I hate him with a passion!!!!! He is always trying to get in my way and bring me down. HE filled my head with negative thoughts today and got in the way of my special assignment. It really pissed me off!!!!!!!!!!!!!!!

So, after the conversation with the pre-op nurse and several others, I became very nervous about the week ahead of us. I am just dreading it really, I truly am...I just am dreading what he will have to endure next week. I went out and bought him a doctor's kit, the old-fashioned kind, and I played doctor with him. HE does not mind the stethoscope, but he hates the thermometer, blood pressure pump, and the play syringe. HE was not very interested though in playing with the tools-besides he has seen enough of the real ones already. I know I seem to ramble but on days like today when I do get down and out, I have to remind myself that there is absolutely nothing I can do but what I am doing right now with my Asa. I must not get frustrated with the process because it is all for Asa. Yes, it is repetitive...Yes, it is strict...Yes, it is costly....and Yes, it is tiring at times....but like I said before, Asa is my destiny and for that I will continue doing everything I can for him. Thanks for listening.