Ashley Catherine Taylor, PA-C,MHS

Reviews

• 05/23/2026
  

  I appreciate the time the PA spent listening to my history and arranging further testing. However, I left the appointment feeling that my concerns regarding the PLEC VUS may have been dismissed somewhat prematurely based primarily on the finding of a single heterozygous variant.The conclusion that I "likely do not have a plectinopathy" came from a physician I did not personally meet with after the PA stepped out to consult. While I understand that many plectinopathies are recessive, my understanding is that certain variants - particularly depending on location and mechanism - may have more complex effects, including potential dominant-negative behavior or incomplete characterization in the current literature. Because of that, I had hoped the broader clinical picture would receive additional consideration.What concerns me is the combination of:* a PLEC VUS predicted by Invitae to be damaging/deleterious,* cardiac MRI findings that include plectinopathy among the differential considerations,* progressive neuromuscular symptoms,* and a strong family history of similar findings across multiple generations, including severe fissured/cracked feet (bleeding fissures, not just cracked), weakness, and confirmed LGMD in my father (whose diagnosis was supported by muscle biopsy).I fully understand that none of this proves PLEC is the cause, and I am open to other explanations. I simply feel the overlap is significant enough that additional investigation may still be warranted rather than the possibility being dismissed outright. I would especially appreciate consideration of whether further evaluation - such as deeper sequencing, investigation for intronic variants, or dermatologic/skin biopsy approaches - might be appropriate depending on the results of ongoing testing.My intention in sharing this feedback is not to challenge the expertise of the team, but to express that I left feeling somewhat unheard regarding the overall phenotype and family pattern.
• 04/14/2026
  

  Dr Taylor always shows excellent communication and experience
• 07/31/2025
  

  Ashley Taylor is very informed and detailed. I'm glad we are under her care.
• 05/15/2025
  

  Good