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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...
heathermason
Jun 28, 20242 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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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
175 views
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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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