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DC clinical guidelines published!

By thor - Posted on 19 November 2015

pic: DC clinical guidelinesThe first edition of the Dyskeratosis Congenita (DC) clinical guidelines are published! You can download the pdf or buy a paper copy. Each chapter of this 400 page medical text is written by experts in the field and contains leading-edge insights and information. The book is a must-have for any Dyskeratosis Congenita patient or practitioners who treat them. The guidelines are published by the DC outreach group.


I can't understate how important this book is for patients with DC - the curated knowledge within is a great benefit to DC families, physicians, and researchers alike. When my daughter was first diagnosed with this disease I tried to learn as much as I could about DC, specifically about bone marrow transplant procedures since this was the most urgent care need at the time. I was very fortunate to have access to the University of British Columbia library so I could find the most recently published research articles on DC. I am also very fortunate to have a PhD and have over a decade experience doing literature reviews and can understand (most of) the technical details of these scientific articles. But even with all these benefits, it was an exhausting, time consuming effort, and not something most families affected by DC are in a position to do. This curated document not only has all this information in one place, but it is recent and summarized.

My literature review efforts did not go to waste, however. I wrote the ionizing radiation chapter of the book along with Sharon Savage, a leading genetics expert on DC. It is an honour to share ink and pages with so many authors I became familiar with during my literature review!

I was in a unique position to contribute to this effort. My education and career involves the medical use of radiation. It is well-known that patients with DC require reduced intensity preparatory regimes before bone marrow transplant because the chemotherapy and radiation therapy is too toxic for these patients. Consequently, preparation regimes have been designed that used reduced intensity radiation, or none at all. All families with DC know this. But during our DC outreach meetings where families meet online to discuss life with DC, I heard many patients (or their parents in the case of children) refusing diagnostic x-rays! A seemingly logical extension of experience with radiation in transplant is that all radiation is bad for patients with DC.

However, this is a common misinterpretation about radiation: effects seen from high dose, high dose rate radiation (ex: Cancer therapy or Total Body Irradiation for bone marrow transplant) are assumed to happen from low dose, low dose rate radiation (ex: diagnostic x-rays). However, the biological effects of diagnostic radiation are very different than therapeutic radiation, so the risk vs benefit considerations are different. In most scenarios, there is definitely more potential harm to the patient with DC to forego a diagnostic x-ray exam (bone density, x-ray, or CT) and proceed with care without the diagnostic information (as long as the exam is clinically indicated). Of course, the chapter elaborates much more on this topic.