Tagged: advocacy, awareness, rare disease, stories
- This topic has 1 reply, 1 voice, and was last updated 1 year, 11 months ago by Tim Blowfield.
February 10, 2020 at 1:15 pm #14566Jenny LivingstonParticipant
At CF News Today, we are celebrating Rare Disease Day, which is February 29. It is a day when we shout loud and proud to the world that we have forged uniquely powerful identities through the odysseys of our conditions. It’s the day we demand more awareness, more action, more compassion. Let’s flood the internet with our voices to make our strength known!
So, you’re probably wondering, how? We’re thinking of a video montage.
Your voice is powerful and carries ripples to not only our communities, but expands to general societies. With your voice, we want to create a video montage at the end of the month of all people from different rare disease communities, showing and telling us why you are rare. So, if you are comfortable, we are taking video submissions. (However, we will be posting written #WHATMAKESMERARECF stories throughout the month of February.)⠀
1. For videos:
Get your selfie cam out and tell us who you are, where you are from, and most importantly what makes YOU are rare. Post on your IG, and tag us in the video! Don’t forget to share it using the hashtag #WHATMAKESMERARECF⠀
Note: we will be creating a video with all the participants. If you want to be be part of this initiative email us your video to [email protected] and be sure to use “What Makes Me Rare CF” in the subject line.
2. For written submissions:
Written submissions: tell us who you are, where you are from, what your rare disease is, but most importantly why YOU are rare. And, send us a photo of yourself — we’ll be sharing throughout the month of Feb! When you post on your IG, tag us in and don’t forget to share it using the hashtag #WHATMAKESMERARECF
Email all submissions to [email protected] and be sure to use “What Makes Me Rare CF” in the subject line.
April 14, 2021 at 9:50 pm #16506Tim BlowfieldParticipant
Rare! We are definitely so. My wife was not found to have CF till she was 67. Is now probably the third oldest in Australia. While she has the common G542X mutation on one Chromosome she has a rare mutation (R75Q) on the other. Many considered the latter not to cause CF but of a checklist of 25 common problems seen with CF Reva showed 20. For a CF person her lungs are reasonable but other so called co-morbilities abound. When diagnosed in 2009 it was said CF persons did not have heart disease largely on the grounds that they were often this and did not absorb fat well thus avoiding a common cause of coronary artery disease. She has cardiomyopathy which we are convinced is the result of abnormal intracellular electrolytes (If Chloride is not pumped out then it will be high inside the cell needing cations Potassium, Calcium and Magnesium to be high to balance it.) This electrolyte inbalance seems to be the cause of Adrenal Gland issues (Addison’s disease and Hypokalaemia), hyperparathyroidism and most recently found hypothyroidism.
We believe CF is a far more complex problem than just a pulmonary and mucous membrane disease (important as they are). Co-morbidities are too often dismissed as unrelated (but are they?) and why do many CF persons have a long list of drugs that they can’t tolerate?
Needs more research!
CF needs be treated by Physicians not just with a good understanding of pulmonary disease but also with a great and broad understanding of general medicine. No easy task but essential.
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