Lifestyles of the Rich and Famous

Maybe rich is an exaggeration, but Mr. Teddy has finally made his way into research papers! So he's clearly famous. OK, maybe famous is an exaggeration as well, but this has been 5+ years in the making. 

When he was first diagnosed, the genetics team was excited about his case, the rarity of his diagnosis and his notable differences from some of the earlier research papers that painted a bleak prognosis. They wanted to write a research paper, but indicated it was a process that could take longer than a year due to limited resources. Let's just say that never came to fruition.

Then there was a person who was presenting a paper about Teddy at a conference, and we were so excited that his information would be shared to help educate others. Then a minor thing like a global pandemic cancelled that conference, and that never came to fruition. (Or we never saw or heard the final report, if the individual was able to present it.)

The other week a family in our PIGN group shared a research paper they had received, and another parent asked if it was the result of the NIH natural histories study because she recognized names of researchers. Sure enough, as I read the paper and the case studies, Teddy's profile from NIH perfectly matched.

So he finally is included in research, representing who he was already 3-4 years ago when we were at NIH. (There's a whole series of posts on the blog about the intensive testing done there if you want to know the details.) 

Unless you have access to medical research libraries, you likely won't be able to find the 2022 publication of PIGN Encephalopathy. But I can send you a copy if you're interested in reading it. Unfortunately, though, unless you possess significant medical background, you probably won't find much value in it. We learned early on that reading any medical research involves looking up the definition of approximately every other medical term because they are written in jargon not understandable English.