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 year. However, I didn't want the day to pass without sharing something that is hugely important.
Many of you know that Batten disease is very close to my heart. During my awareness campaign last year, I featured an article about Ollie and Amelia. They are brother and sister who both have CLN2, the late-infantile form of Batten disease. While there is no cure, there is a very effective enzyme replacement treatment that slows down disease progression. It is a lifeline for families trying to give their children the best quality of life possible for as long as possible.
However, last year, Amelia and Ollie's mum, Lucy, explained that in 2018/19, the National Institute for Health and Care Excellence (NICE) stated that although the treatment was working, due to the lack of long-term evidence, they deemed the drug too expensive.?
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They launched a judicial review against this decision, which resulted in NICE agreeing to a Managed Access Agreement for a period of five years. This allowed the drug company to collect long-term data and continued access to the drug for those who met the criteria. This agreement ended in November 2024. However, there still remains indecision on whether this treatment will become available on the NHS, meaning that families in the UK are in limbo.
Lucy says that, "We need as many people as possible to join us at the Houses of Parliament…we have to make a stand, we need to be seen, we need to be heard".
The CLN2 Community and @bdfabattendisease will be gathering outside the Houses of Parliament on Wednesday, 12th March (1-3 pm) to raise awareness of our campaign to ensure that Brineura is approved by NICE.
Please come along and join us as we fight for the right for every child with CLN2 to receive this life-saving treatment now and in the future. Exact location to be announced soon.
Read more on Amelia and Ollie's story here.
https://lnkd.in/eda2835v
Or follow them on Instagram (@ameliasarmy)
This story is also being played out in British Columbia, Canada, where another young child with CLN2 is under threat of treatment being withdrawn largely based on cost. We must do more to secure these treatments to ensure the quality of life, and extended life for children with rare diseases.
#Battendisease #raredisease #awareness #sanfilippo #rarediseaseday
Rare Disease Day Batten Disease Support & Research Association (BDSRA) Australia BDSRA Foundation