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...
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heathermason
Feb 111 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....
172 views0 comments
heathermason
Feb 101 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...
167 views0 comments
heathermason
Feb 91 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...
59 views0 comments
heathermason
Feb 81 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...
71 views0 comments
heathermason
Feb 71 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...
2,474 views1 comment
heathermason
Feb 61 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...
227 views0 comments
heathermason
Feb 51 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...
387 views0 comments
heathermason
Feb 41 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...
51 views0 comments
heathermason
Feb 37 min read
I am Mabel, and I have Williams Syndrome
On day 3 of the rare disease awareness initiative, I would like to introduce you to Mabel. Now, Mabel and I go way back. She was at...
204 views0 comments
heathermason
Feb 21 min read
We are Amelia and Ollie
Amelia and Ollie are brother and sister, living with their family in the UK. They both have a neurodegenerative disorder called Batten...
675 views0 comments
heathermason
Feb 13 min read
von Willebrand Awareness Day
Today is the first day in my initiative to raise awareness for Rare Disease Day, coming up on the 29th February. I will post something...
12 views0 comments
heathermason
Nov 10, 20231 min read
REGENXBIO halts CLN2 gene therapies
The Batten Disease community are heartbroken to learn that the biotech company REGENXBIO have decided to stop further enrollment and...
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heathermason
Nov 7, 20231 min read
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...
6 views0 comments
heathermason
Mar 23, 20231 min read
St Gallen Breast Cancer Conference 2023. Day 2
Updates in HER2+ breast cancer: adjuvant therapies, early-stage data, and tumour heterogeneity HER2 status has important implications for...
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heathermason
Mar 23, 20231 min read
Highlights from the 2023 St Gallen Breast Cancer Conference in Vienna. What did I learn?
1- Measures of clinical response to breast cancer therapies need to be updated in line with the advances in improved drug treatments. 2-...
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heathermason
Feb 28, 20231 min read
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...
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heathermason
Jul 9, 20211 min read
Guidelines for Diseases Like Batten Are Small Nonprofit’s Guiding Goal.
https://battendiseasenews.com/2021/07/08/care-beyond-diagnosis-clinical-guidelines-rare-disease/ Raising awareness of rare diseases...
2 views0 comments
heathermason
Jul 9, 20211 min read
European Medical Writers Association - Webinar Series
Another upcoming webinar hosted by the European Medical Writers Association (EMWA) Thursday 22nd July 2021, 14:00 CET The role of Quality...
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heathermason
Jun 17, 20211 min read
Pens for Kids
A fellow medical writer has set up a project to get pens to children across the world. Who could believe that in 2021, there are still...
1 view0 comments
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