Thrown a Curve Ball #2
What a week! To my great surprise and disappointment, I found out on Tuesday that the exome sequencing DNA test hasn’t even been started yet… Here I thought the test was almost completed! Long story short, we found out that this certain laboratory in Massachusetts is out-of-network for our insurance. So ever since July 1st, the lab (together with my doctors) has been doing all they can to get this DNA test covered, appealing and fighting to show insurance how necessary this test is. I don’t know what’s going to happen, but I should hear by next week what they find out. I know it’s in the Lord’s hands. Thankfully, if getting the test through this lab doesn’t work out, there are always others.
On Wednesday, I heard back from that mitochondrial specialist in San Diego. After thoroughly reviewing the referral and my records for 5 weeks, the dr. formed a plan. Before he decides whether to see me, he’d like me to get some extensive tests done first and then review the results:
1. another lumbar puncture (spinal tap) — I can’t even remember what it is he wants to check in the cerebrospinal fluid because it was too complicated..
2. whole exome sequencing — if the lab in Massachusetts doesn’t work out, he recommended one in Maryland.
3. repeat electromyogram and nerve conduction study
4. possible muscle biopsy