Our neurologist has referred us to Dr. John Shoffner in Atlanta for a consultation and muscle biopsy for Nathan. Our Nurse Practitioner is contacting them tomorrow and sending all of Nate's records, and we should have an appt soon.
Dr. Shoffner is one of the leading biochemists in the nation. He is a pioneer in the diagnosis of mitochondrial diseases and is one of the few leading experts in the biochemical aspect of the rare diseases that affect mitochondria. I look forward to meeting him and finding out what he suspects in regards to Nathan's diagnosis.
Our neurologist thinks that Nathan may have Carnitine palmitoyltransferase deficiency (CPT). It is a fatty acid oxidation disorder than falls under the canopy of mitochondrial disorders. I know that this will sound weird, but we are actually hoping that he has one of the fatty acid oxidation disorders. Most of his abnormal labwork and symptoms are pointing to deficiencies in his mitochondria, and fatty acid oxidation disorders are non-progressive and managable. Actual mitochondrial disease is progressive, though the rate of progression varies widely from case to case. Regardless, all of these are life-long disorders and life-altering.
They will make a small incision in Nathan's thigh and take a portion of his muscle for biopsy. The younger the patient, the easier the recovery is for them. Most kids only need a little tylenol afterwards for the pain. The results of the biopsy will more than likely take 14-20 weeks to come back.
The great news is that our life will more than likely slow down dramatically after we receive the results of the biopsy. Instead of all of our specialists searching for answers, they will just be maintaining care. Oh, that is just so great to think about.
Last October was when we were told that our son had 2 markers for a genetic abnormality. It has been a long year of searching for answers. It has been difficult and long...rewarding at many times...but exhausting and highly emotional. I pray that the Lord will bless us with some answers soon.
On a different, but sort of the same note, the doctor who takes care of the immunology patients put Nathan in the high priority list, so we have an appt to see her on October 14. I'm glad we were able to get in to see her so soon. He'll have to go next week to have more blood work done for the immune deficiency workup.
And the wonderful news is that Jay's parents are coming in on Saturday to spend a week with us. Jay's mom told me to schedule as much as I could, so on the docket for next week is PT, Pulmonology appt, labwork, that massage that Jay gave me for my birthday, a visit to the eye doc for me, and a much-needed date with my dear husband. It shall be a great week!