International Phenylketonuria (PKU) Awareness and Neonatal Screening Day
PKU awareness day is observed every year on the 28th of June, aiming to raise awareness of the condition. PKU is a rare genetic disorder...
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heathermason
Jun 91 min read
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...
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heathermason
Feb 181 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,...
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heathermason
Feb 141 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...
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heathermason
Feb 121 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...
21 views0 comments
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
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...
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