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 have..trust 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! http://www.medicalneurogenetics.com/