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Jenny Harmon, MD, PhD
@md_harmon
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Peds neurogeneticist/scientist @wakehealth interested in mito DNA depletion syndromes. Mom to a neurotypical firecracker and an autistic 🦖 lover. Views=mine.
Joined August 2021
Due to multiple aircraft issues on both legs of this @AirCanada trip, we’ve had a 6+ hour wait in one airport and are in the middle of a 5+ hour wait in the 2nd. In all, we will have a 21 hour travel day for 5 hours of flight time. So glad this acct could return to its roots.
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We had a great experience with @TSA Cares at @CLTAirport this morning. We have been super nervous preparing for the dude’s first plane ride - and while the day may be hard still because we have yet to do the *plane* part - we were SO grateful for assistance through security.
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I didn’t get the grant, but I passed both boards, and although he demures, @zwhitt29 played a significant role in that pass. What I am saying is - get you friends that support you in all your absurdity, and never let them go.
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@MariyaSweetwyne As far as I have seen, disability advocates prefer “disabled people” - some may prefer people first with “people who are disabled” and many feel that “differently abled” is an obfuscation that undersells the challenges that are then compounded by an unaccommodating society.
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@RenegadeSynapse @zach_london @coffinmed @GreenJournal @AANmember @EricaSchuyler @ChrisLeeNeuro @BlakeBuletko @EYemmCoon @RJNeuromuscular @drpearcekorb @DrJeffRatliff @yaleneuropd @AMahajanMD @NMatch2025 I don’t know, the 20 patients with hand, foot and mouth that I saw when I left my 29 day old to return to work were extremely educational.
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@C_Kittock @usd Congratulations! We were a LEND mentor family, and we really enjoyed getting to show our trainee a bit about family life with an autistic kid. Including my son’s ABA therapy program’s carnival, during which he *very* quickly stole & yeeted a (rubber, thankfully) skeeball…
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@TakeThatNurses @JustineLeves01 When I was in my adult neurology year of training, I had a family meeting for a 70+ year old patient that included their mother. It cemented what I knew from my peds years - no matter how many years a mother has spent with the child she is losing, it is never enough.
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@JustineLeves01 I’m a pediatric neurogeneticist, and I always say that my favorite appointments are the ones where I get to laugh and cry with my patients. Even better if I have a trainee or student with me! I hope I never stop being moved by those moments with families.
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Grateful that I was given the opportunity to present my most vexing metabolic quandary as part of the Unknown/Challenging Cases session! Being able to tap into the collective expertise and wisdom of the @SIMDtweets group was a privilege!
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@Stanford_Neuro @RebeccaJLevyMD @StanfordMed @StanfordChild Congratulations, @RebeccaJLevyMD! I’ve been waiting to see this news!!
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PDCD can present as structural brain anomalies including corpus callosum dysgenesis; since this is a known presentation of multiple treatable disorders, @NeuroMetabolism has convinced me that prenatal WES/WGS is the best fetal genetic evaluation for congenital brain anomalies!
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A high degree of suspicion + ordering basic labs (blood gas, ammonia, lactate, urinalysis) can be a life saving intervention. If a baby is encephalopathic enough to warrant an LP, you should be sending an ammonia.
Acute presentations in early life fall into three broad camps and timing can be key in identifying aetiology. Ultimately, clinical teams need to consider the metabolic differential to make the diagnosis. #thinkmetabolic #neotwitter
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