So my wife has been been overly fatigued the last couple of years. She's been tested for all sorts of stuff from narc to sleep apnea. In the end they just attributed it to her being overweight. That combined with being threatened with knee replacement drove her to have weight loss sugery (vertical gastric sleve) earlier this year. After that her gall bladder went out of whack and that had to go too. Shortly after her gall bladder surgery she started getting numbness and weakness in her legs. At first they thought it might be a vitamin deficiency, then spinal injury during surgery, then thyroid, and now something neuro. We saw the neuro doc three weeks back and he shotgunned the tests to try and rule out whatever he could because she didn't fit the mold for anything yet.
Yesterday we saw the doc again to get results and have her nerve conduction study and EMG. Everything up to yesterday indicated normal, but her nerve conduction study showed significant loss in her sensory nerves for her legs. The EMG indicated that her muscles are in the process of dying. Throwing all of these various symptoms together he came up with a guess as to what this problem is, and ordered another test to confirm. He believes it is something called Adrenomyeloneuropathy (AMN), a presentation of Adrenoleukodystrophy (ALD). If these last rounds of tests confirm it they he is shipping us to Vanderbilt to get a 2nd opinion (otherwise we go to the Mayo Clinic in MN).
It wasn't until we got home in the afternoon that we had a chance to look this up. Apparently it's a genetic disorder that get's passed down directly in most cases. It's incredibly rare, and usually affects males. Boys under 10 have a 30-35% chance of developing the cerebral version and is often terminal... We have two boys ages 4 and 6, and I am freaking out. If this is confirmed the best case scenario is that my wife ends up in a cane or wheelchair in the next 10 years, and the boys both got my X chromosome sequence thing. The worst case is that all three have it and progress to cerebral, which could turn my family of four into a family of one in the next 10 years.
This is also sometimes misdiagnosed as MS, which is what we were thinking this was going to be. Her aunt was diagnosed with MS about 10 years ago, and we're beginning to wonder if she may have this instead.
This whole day I was a hearbeat away from a total breakdown
Has anyone here heard of and/or have any experience with this?
TL;DR: Genetics suck