Very new here. I was just diagnosed with Adrenomyeloneuropathy, after genetic testing was conducted to look for a diagnosis for my symptoms of ataxia, neuropathy and leg weakness that have progressed over the past decade (I'm a 32-year-old female).
We immediately took our 2-year-old son to have his VLCFA levels tested, and two days ago received a phone call with preliminary results, letting us know his levels were elevated, indicating he has X-ALD.
Everything is still so new and overwhelming, and we don't meet with the geneticist until next week. But I wanted to reach out to you and see if there are any immediate "first steps" you all would take in my shoes, regarding getting my son set on the best track for screening and treatment options.
Thanks, in advance, for any suggestions you might have.