Rare Disease Warrior – Niamh

The story of Niamh

A diagnosis should not take 8 years, but that is exactly what occurred in trying to find out what was causing the medical issues in my beautiful daughter Niamh. Hearing the horrible words that the disease – GM1 Gangliosidosis – is always fatal in children was like a knife through my heart.

Fighting for recognition, support and assistance with a “known” disorder is hard enough, but it is made all the more difficult when that disorder is rare – it shouldn’t be like this!

My wish for 2022 – as it is every year – is continued developments into the investigation of a Cure for GM1 Gangliosidosis. Gene Replacement Therapy Trials continue in the USA as part of this.
As Rare Disease Day comes around again, my beautiful, happy Niamh brings so much love to my life. She is a wonderful child, with a lovely disposition, and she fills my life with joy!