@bobigelow

Working to cure our daughter Tess's rare disease, Hao-Fountain syndrome.

 Falmouth, ME
Joined June 2009
  • Tweets4.8K
  • Following940
  • Followers1K
543Media
Tess Army: we learned a TON from Dr. Schaaf’s phenotyping study. 🔥 Check it out and please RT. #USP7 #HaoFountainSyndrome
Christian Schaaf@cpschaaf15 Jan 2024
New insight on Hao-Fountain syndrome: clinical severity score, genotype-phenotype correlations and expansion of phenotypic spectrum. @FoundationUSP7 @bcmgenetics @bcmhouston @UniHeidelberg @uniklinik_hd onlinelibrary.wiley.com/doi/…

Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum

A comprehensive literature review and assessment of 32 newly identified patients with Hao-Fountain syndrome elucidate the neurodevelopmental trajectory of this disorder, highlighting previously...

onlinelibrary.wiley.com
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Seven men. On foot over 183 miles total. Nearly 300 kilometers. Deep in the heart of Texas. Click to listen to my latest podcast episode. #runhou #runhouston #USP7 #HaoFountainSyndrome @runforusp7 @FoundationUSP7 portlandrootsmedia.com/stron…

#470: H-Town — Portland Roots Media

Seven men. On foot over 183 miles total. Nearly 300 kilometers. Deep in the heart of Texas.

portlandrootsmedia.com
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Stuck here in Houston after the marathon, and I don’t even mind. I’m a fan of H-Town. The people here have been so lovely. #WorthIt #runhou #runhouston
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New insight on Hao-Fountain syndrome: clinical severity score, genotype-phenotype correlations and expansion of phenotypic spectrum. @FoundationUSP7 @bcmgenetics @bcmhouston @UniHeidelberg @uniklinik_hd onlinelibrary.wiley.com/doi/…

Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum

A comprehensive literature review and assessment of 32 newly identified patients with Hao-Fountain syndrome elucidate the neurodevelopmental trajectory of this disorder, highlighting previously...

onlinelibrary.wiley.com
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Honored to run with these men today in Houston. We were—and are—unstoppable. #runhou #runhouston #USP7 #HaoFountain @FoundationUSP7 @runforusp7
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It is ON tomorrow morning. #runhou #USP7 @FoundationUSP7
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My marathon teammates have arrived in Houston! It’s on! @FoundationUSP7 #runhou #HaoFountainSyndrome
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I'm running the Houston Marathon on 1/14 with Olivier Emmenecker, whose daughter Zoe is Tess's USP7 sister over in France. Please donate today. Thank you! usp7.org/donate #USP7 #HaoFountainSyndrome #runhou #runhouston
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Thrilled about this preprint article from Hao Chen & Albert Kim, MD, PhD about USP7 and Hao-Fountain syndrome! You guys had me at "a novel p53-independent ubiquitin signaling pathway." ncbi.nlm.nih.gov/pmc/article… @AlbertHKimMDPhD @WUSTLmed #USP7 #HaoFountainsyndrome @FoundationUSP7
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@WashUNeurosurg @WashUONR
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Remember Sports at SPACE, Portland, ME last night. Fantastic
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I'm outta here. Find me on Mastodon: @bo@masto.ai
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Evals. Not our favorite, but they’re part of our lives. Click to listen to the latest ep of the pod. portlandrootsmedia.com/stron…

#409: Evaluation Exasperation — Portland Roots Media

Evaluations. They're a huge part of our life with Tess. They aren't really fun.

portlandrootsmedia.com
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Tess is such a talker. Not with words exactly, but a complex system of sounds and gestures. And one thing that can sometimes cause us a bit of concern is this: when she clams up entirely. #nonverbal portlandrootsmedia.com/stron…

#407: Tess Clams Up — Portland Roots Media

Tess is such a talker. Not with words exactly, but a complex system of sounds and gestures. And one thing that can sometimes cause us a bit of concern is this: when she clams up entirely.

portlandrootsmedia.com
Apple picking. It's not just for people who need to get out of the house with their toddlers. Click to listen to my latest podcast episode. portlandrootsmedia.com/stron…

#402: A Food Tess Won't Eat — Portland Roots Media

Apple picking. It's not just for people who need to get out of the house with their toddlers.

portlandrootsmedia.com
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Looking for great podcasts about rare disease? Look no further than these friends of mine. Subscribe and start listening. Please RT! @OnceUponAGene @BloodStreamInfo @sanathkr_ @JMGraglia @DenaTalksDNA @DNApodcast @KyleABryant @SeanBaumstark @21CenturyDads @K_SalemOaks
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Don't miss this week's episode of the pod. portlandrootsmedia.com/stron…
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We've come a long way together, Tess Army. portlandrootsmedia.com/stron… Stay tuned through the end of this ep for an incredible surprise from my main man Daniel DeFabio.

#400: Four Hundred — Portland Roots Media

We've come a long way together, Tess Army.

portlandrootsmedia.com
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Foundations often start small, with a few parents around a kitchen table. But they grow. And ours is growing now, thanks to a special tool. Do you want to know what the Matrix is? portlandrootsmedia.com/stron…

#398: Take the Red Pill and See How Deep the Rabbit Hole Goes — Portland Roots Media

Foundations often start small, with a few parents around a kitchen table. But they grow. And ours is growing now, thanks to a special tool. Do you want to know what the Matrix is?

portlandrootsmedia.com
Hey Joe, Avis thinks my wife rented a car in Illinois last January. She didn't. You guys have charged us over $2,300. I've called. I've written four letters. Always saying the same thing: YOU HAVE THE WRONG PERSON. What do I have to do to make this stop? @FerraroABG
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