How it started -> How it’s going

From @TheACMG trainee reception to being co-presenters in 2 years, I’m so glad to have @zwhitt29 with me on this early career journey! Here’s to more conferences and more presentations together in the future!

Phenomenal keynote at #ICIEM2025 - terrific story of some of the most important discoveries in mitochondrial biology to date, including the unique rotational mechanism of ATP Synthase.

🎉 #CNSAM registration is OPEN!
🧬 Join us for the 1st ever Genetics Summit
📅 Last day of meeting—SO worth it!
🎯 Hands-on, practical, not esoteric
👩‍⚕️ Designed for peds neuro trainees & clinicians
🙌 Incredible educators lined up!
🔗 Don’t forget to register & save your seat!

Fun fact: I created this acct specifically to hound @AirCanada into giving me the refund they announced me they owed passengers after ~12 mos of refusing to refund ticket costs for COVID-canceled flights in 2020.

This trip is an 4-years-delayed replacement of that trip.

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.

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.

I am so grateful that we are now recognizing the importance and value of autistic play, because I would be super bummed if I never got to see an all-dinosaur reenactment of the movie Sing.

This week, I have been dropping the kids off at summer camp. This reminds me of doing the same last summer, often during which @zwhitt29 was on a hands-free phone call reading me board questions because that was the most efficient study tactic when I was otherwise grant writing.

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.

Extremely niche piece of advice - if your autistic non-speaking son suddenly becomes very interested in a snippet of “Unwritten” at bedtime on his 6th birthday, you should only play him the whole song if you want to cry like a character in an early 2000s coming of age film.

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!

Enjoyed presenting my poster on the first patient I diagnosed after starting my faculty job! We should reconsider historic metabolic diagnoses and offer molecular testing for adult patients whose clinical courses deviate from what is expected for their diagnosis!

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!

It is difficult to describe how amazing it is to be able to look up at the sun and see the stars right beside it! Levi didn’t understand the point of the glasses, but he was able to appreciate Totality!

We are at that orange dot, projected for 2 minutes and 29 seconds of totality! We have been planning this trip for 7 years. We’ve had a great time road-tripping, seeing family and friends, and celebrating R’s birthday along the way!

On vacation, we have eaten several meals in restaurants as we travel. Levi eats almost no restaurant food, so we give him preferred foods beforehand, take in his cup, and buy him milk. Imagine our surprise when he insisted on eating some bites of Chuck E Cheese pizza today!

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.

Just a handful of farm birds hanging out on Spring Break.

Just got a peer-to-peer request for a whole exome, and I will certainly be requesting that my peer be a dual board-certified pediatric neurogeneticist.

Today marked a historic day for the MLD community as the FDA has officially approved MLD gene therapy treatment, Lenmeldy. On this monumental day, listen to The Calliope Joy Foundation co-founder Maria Kefalas share why this is a historic development for the MLD community.