Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants Laurence Gauquelin, et al.
The above link is a medical research paper that discusses the 23 known people who have the same affected gene as Cicily: POLR1C. When we found out about this huge genetic news in November 2016 Chris hoped that Cicily would be "patient C" in a research study. Three years later, his dream has been realized as Cicily has become patient 19!
Of course I read the whole paper and yes I actually understand most of it. I do have a good amount of research under my belt on leukodystropy. I realize most people reading this do not have that background knowledge or care to read a full article so I'll give bullets pertinent to Cicily.
Of note in the paper:
- Cicily's picture is featured as the only photo. Check it out @1/2 way in.
- Cicily is the only person of the 23 who has Treacher Collins Syndrome and white matter disease. (Hence the photo.)
- 4 people have minor craniofacial differences (very minor similarities to Treacher Collins Syndrome).
- 13/23 people require the use of a wheelchair.
- Cicily is the only person who ticked all boxes on the table of demographic, clinical data (things such as dystonia, myopia, abnormal dentition).
- 5 other known people (not included as the 23 patients in this study, but mentioned) have Treacher Collins Syndrome but no significant leukodystrophy (brain disease) involvement.
Essentially it's just pretty shitty to be the worst of the worst. When my source of sunshine was around it was easy to talk about things like this with her and find something for us both to smile about. But I'm coming up short today, two days after we commemorate her death 3 years ago. All I can say is Cicily wouldn't have been the same if she hadn't ticked all those boxes. And she is amazing and lived a big happy life.
We are so glad that these doctors are continuing to research POLR1C and its affects on people. We are very happy to be in contact with these researchers and provide continuing data from Cicily's experience for them to publish.
2 comments:
Janalyn, I still think of Cicily often and just saw the cute pics of her and Faith together from the trip we met in person back in 2008! Great to see this article published about Leukodystropy, I could never remember exactly what she had besides her TCS and a white matter deficiency.
Sending big hugs.
Robin
I hope she found heaven.
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