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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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Use of β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
Today was a good day. I received the live link to a manuscript that I have been project managing. This one was a labour of love,...
heathermason
Jun 18, 20241 min read
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Batten Disease Awareness Day 2024
To celebrate Batten Disease Awareness Day 2024, we are wearing orange. Our family would like to show support to all families touched by...
heathermason
Jun 9, 20241 min read
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MPS Awareness Day is Today. Wear it Blue!
This day is dedicated to raising awareness of mucopolysaccharidoses (MPS) and related conditions. Image generated by AI using CANVA MPS...
heathermason
May 15, 20242 min read
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How can a medical writer support the rare disease community?
Raquel Billiones, PhD and myself have been invited to moderate an Expert Discussion Group, at the upcoming European Medical Writers...
heathermason
Apr 25, 20241 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 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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Williams Syndrome
Williams Syndrome. I had never heard of this until my son was at nursery with a little girl called Mabel who has the condition. I...
heathermason
Nov 7, 20231 min read
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