Need help Asap
I’m a 35-year-old female. In 2025 I was paralyzed for 11 days and couldn’t walk on my own until January 15th, 2026. I’ve been driving 6 hours each way to see this neurologist in Dallas because I was told he was good.
I now have persistent ataxia, new scattered cerebral white matter lesions on MRI (that were not on my November 2025 scan), confirmed fibular/peroneal neuropathy on EMG, recurrent severe weakness episodes, and CSF inflammation.
I had full genome sequencing through Variantyx. The report found:
PNPT1 c.1519C>T (p.Ala507Ser) — heterozygous and pathogenic. Labeled as “Carrier” for recessive PNPT1 disorders, but the detailed section on page 2 clearly states that pathogenic variants in this gene have been associated with Spinocerebellar ataxia 25 (SCA25) (autosomal dominant), as well as Deafness 70 and Combined oxidative phosphorylation deficiency 13.
FUS variant listed as a Variant of Uncertain Significance (VUS) associated with amyotrophic lateral sclerosis 6 (ALS) with or without frontotemporal dementia.
The top summary of the report says no pathogenic or likely pathogenic variants were found to explain my symptoms.
My neurologist at Texas Neurology in Dallas read the report and told me I’m “just a carrier for a condition that causes hearing loss.” He never mentioned SCA25 once. He also opted out of ACMG Secondary Findings without my consent. I had to chase down the full report myself.
I’m furious. Am I overreacting, or is this as bad as it seems? Should this heterozygous pathogenic PNPT1 variant be taken seriously with my symptoms?
Also, is Texas Neurology a reputable group, or did I just get a bad doctor?
I need help. It seems he is just going through the motions.