Thread by @DrJenChen4kids

It’s the last day of #VaxFactsFebruary and #RareDiseaseDay, so I feel it’s finally the right time to share this story*
#VaxxDocs #VaccinesAreSafe

*Non-pertinent details changed for HIPAA

1/

https://twitter.com/nicoleb_md/status/1232308887296057345

“X” was a healthy girl until ~1 yo when she became a picky eater and got extra fussy after eating. When I met her, mom had been told it was reflux, constipation, multiple viral illnesses, etc. She’d even been hospitalized elsewhere for “dehydration” then discharged 2/

Reviewing the records, I was struck by very elevated AST/ALT, which can be seen in many conditions, but these were pretty high. On exam, X was really fussy, maybe mild gross motor delay, but no focal findings like a hard belly, rash, or dysmorphic facial features 3/

In medicine, we talk about thinking horses, not zebras, but the tricky part is recognizing when one might have a zebra or even a unicorn! X reminded me of another kid I’d treated w a known metabolic disorder, so I decided to get some labs. 4/

Sure enough, her ammonia was sky high! Long story short, X was eventually diagnosed with partial OTC deficiency, which is a #RareDisease (even more so in girls). With proper treatment, she returned to being a thriving toddler 5/

rarediseases.org/rare-diseases/…

Through all of this, mom never said she thought it was a vaccine injury, esp after the 1 yo shots, but it’s easy to see how it could have been perceived that way. Left undiagnosed and untreated, X would have inevitably worsened and possibly died w/out clear explanation 6/

Every #tweetiatrician has stories like this. There are many GENETIC diseases that don’t show up until later in life, but they can turn a “previously healthy” child into a medically complex one very quickly eg Rett’s syndrome, adrenal leukodystophy, etc 7/

I’m not trying to deny that kids have rare bad experiences (I’ve treated kids w true allergic reactions) but if someone comes in yelling “My child is vax-injured” then they’re less likely to get a thorough history, exam, and potential workup for what might actually be wrong 8/

Or the family jumps to that conclusion and never seeks medical care again...it’s sad to contemplate how many “vax-injured” kids might actually have undiagnosed genetic disorders that could potentially be treatable, or at least better supported 9/

It can still be frustrating, but with advances (eg sequencing @RadyGenomics), we’re diagnosing many more rare diseases. Even if there’s no definitive treatment (yet), families have closure and can plan ahead for potential issues 10/

Unless their diagnoses includes immunodeficiency, all the medically complex kids I’ve treated continue to get their vaccines as recommended, because their families know #VaccinesWork to protect them from other things like flu, tetanus, and meningitis. #VaccinesSaveLives

/fin