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EMWA Spring conference is nearly upon us.
The European Medical Writers Association (EMWA) 2024 Spring conference is almost upon us. Raquel Billiones and I will be moderating the...
heathermason
Apr 3, 20241 min read


World Down Syndrome Awareness Day.
This is more of a personal post than a professional one, but it is World Down Syndrome Day, and in the spirit of my professional...
heathermason
Mar 21, 20241 min read


Rare Disease Day 2024
Happy Rare Disease Day 2024!!!!! Show your stripes! Following the rare disease initiative we started at the beginning of February, I...
heathermason
Feb 29, 20241 min read
European Haemophilia Consortium EHCucate application
Just in time for Rare Disease Day . The European Haemophilia Consortium team have published another topic in their FREE patient education...
heathermason
Feb 28, 20241 min read
Last Day of Rare Disease Stories
Unfortunately, yesterday was the last day of the rare disease initiative I have been doing with the rare disease community in February....
heathermason
Feb 19, 20241 min read


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


Young Ambassadors for Rare Diseases
On day 17 of our rare disease initiative, I will not be writing a personal story, but some insight into the young voices of the...
heathermason
Feb 17, 20241 min read


Aplastic Anaemia
Day 16 of our rare disease awareness initiative. We share the story of Allison's father, who had Aplastic Anaemia. Accurate information...
heathermason
Feb 16, 20241 min read


International Angelman Day
Today, as we are half way through our rare disease awareness initiative, a little reminder of why we are doing this. The build up to Rare...
heathermason
Feb 15, 20241 min read


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


This is John's story of Spindle Cell Sarcoma
This photo by unknown author is licensed under CC-BY-NC-ND Today, on day 13 of our rare disease initiative, I wanted to share John's...
heathermason
Feb 13, 20241 min read


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


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


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


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


We are Omar and Adam. We have X-Adrenoleukodystrophy (ALD)
Today is day 8 of our rare disease awareness initiative. I was contacted by Riham, who wanted to share her story of her two boys, Omar...
heathermason
Feb 8, 20241 min read


I am Sadie Rae, I have Sanfilippo Syndrome.
We are already one week into our rare disease awareness initiative! Today, we are sharing Sadie Rae's story. This heart-breaking story is...
heathermason
Feb 7, 20241 min read


I am Claire, and I have Fabry Disease
On Day 6 of rare disease awareness, we are sharing Claire's story. Claire's diagnosis story is a protracted and frightening one, partly...
heathermason
Feb 6, 20241 min read


I am Benjamin, and I have Pitt-Hopkins Syndrome
On Day 5 of rare disease awareness we are sharing Benjamin's story. Benjamin lives in the UK with his twin sister, elder sister and his...
heathermason
Feb 5, 20241 min read


I am Evana, and I have Ehlers-Danlos Syndrome.
Day 4 of the rare disease awareness initiative, I would like to introduce you to Evana. who lives in South Korea and has Ehlers-Danlos...
heathermason
Feb 4, 20241 min read
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