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Rare Disease Day 2025
It's late in the day, but today has been World Rare Disease Day. I wasn't able to repeat the awareness campaign that I undertook last...
heathermason
Feb 282 min read
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I am Mias, and I have GAMT deficiency
Today on day 18 of our rare disease awareness initiative, we have another birthday. HAPPY 3rd Birthday Mias!! Mias's mum Carien,...
heathermason
Feb 18, 20241 min read
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I am David, and I have Hunter Syndrome
On the 14th day of our rare disease initiative, I have the privilege to present David, who, at 36 years of age, is the oldest person...
heathermason
Feb 14, 20241 min read
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Syndromes Without a Name (SWAN)
On day 12 of our rare disease initiative, I have made a change to the format, to cover something that I feel completely necessary to...
heathermason
Feb 12, 20241 min read
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I am Caoimhe, I have CAMK2.
Today is day 11 of our rare disease initiative, and I had the absolute privilege of talking to Nev, the father of Caoimhe, who has CAMK2....
heathermason
Feb 11, 20241 min read
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I am Elisia, I have 5q14.3 (MEF2C) deletion.
Today is day 10 of our rare disease initiative. Today, Elisia's mum, Claire shares their journey of another ultra-rare condition, that...
heathermason
Feb 10, 20241 min read
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I am Landry, I have CHAMP1 disorder.
We have reached day 9 of our rare disease initiative. Today, Landry's mum, Lindsay, shares their journey of being diagnosed and living...
heathermason
Feb 9, 20241 min read
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Rare Disease Day 2023
Rare Disease Day 2023. #showyourstripes ! One in seventeen of us have a rare disease. Not so rare afterall. A recent survey of...
heathermason
Feb 28, 20231 min read
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