Mutant Ninja Turtles
17 November 2016
Hi everyone!
The results have been trickling in from the clinic, so we thought we'd update you on where we are at. The physiological testing done at the clinic - nerve conduction studies, EMG, sensory tests, autonomic tests - confirmed the type and extent of Jo's neuropathy. However from these tests alone a diagnosis was not possible. MRI scans showed some abnormalities in the nerves, including a potentially informative lesion on the sciatic nerve. Hence the biopsy was done to see if this could give us a definitive answer. Unfortunately it didn't - there were abnormalities there but nothing diagnostic. BUT, because the biopsy didn't show any inflammation the doctors are veering away from the hypothesis that Jo's condition is autoimmune/inflammatory in nature. This is important as it rules out trying treatments that suppress the immune system and are potentially very risky.
The genetic tests, though, have revealed some interesting information. Jo has two mutations in nerve-related genes which may indicate the condition has a genetic basis. One is a new mutation (it hasn't been identified in anyone else yet), which may explain why Jo is so unique ;) She always did have an affinity for the Teenage Mutant Ninja Turtles... These mutations aren't diagnostic yet - but they are the biggest breakthrough we've had in trying to understand the cause of the neuropathy. The next step is to test Mum & Dad to see if either mutation was inherited or if it spontaneously occurred. These tests could take a few months but we'll try to keep you updated on the results.
Thank you all for being a part of this journey. We are so grateful for all the support we've had. Every single one of you has made a difference, and we've loved reading all your messages. This really helped Jo during her time at the clinic. We will keep you posted on the next leg of the investigations.
Aroha nui xxx
