APPG Meeting

Matthew and Gail recently attended an All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions in Parliament for the launch of the Genetic Alliance project ‘Action for Access’.  Gail discusses her experience.

“It was an informative, uplifting & highly emotive afternoon.  Catherine West MP chaired the meeting & was brilliant.

Nick Meade, who is the Director of Policy at GA, presented the project, speaking so clearly about the steps they want to take to make changes to the process for accessing rare disease medicines.

Nick shared the background to the campaign, outlining the key issues that patients face: systemic issues, the lack of a clear pathway for assessing drugs – there are 17 possible pathways) the delays, lack of transparency. There were so many issues which highlighted how appalling the system in this country is.

Nick then talked through the ideas they have for a resolution, like creating a flexible system, with a single access route across the whole of the UK, much more transparency of pricing as the public & patients never know what prices are being negotiated.
It needs to be a much more open & honest process.


The project findings confirmed that the UK is underperforming in evaluating & accessing rare disease medicines compared to Germany, France, Italy & Spain.

It showed stats for the average time it takes each country to give the treatment to their citizens from the date the drug was licensed.
The fastest country to give access was Germany, which is no surprise.

We heard from speakers representing patient organisations : David Ramsden – Cystic Fibrosis, Kate Learoyd – Phenylketonuria (PKU) & Chris Kingswood – Tuberous Sclerosis.

It was very emotional listening to them share their experience of having to fight for treatment for their conditions.
PKU have been fighting for 10yrs for access to Kuvan & are still to get a YES from the NHS.

Cystic Fibrosis, fighting for Orkambi for over 4 years – but you can now get this in Scotland, it is just shameful.

Since HST process was introduced in NICE in 2013, only 11 drugs have been agreed!❗️

Nick talked about the impact of the delay to accessing medicines can have in the aggressive, rapidly progressing conditions. The stress this brings to families who are already suffering with the impact of the disease itself, the disparity between England & Scotland, when we are part of the United Kingdom.

We agreed with every word that was said.

“We were so grateful to be given the opportunity to attend the meeting and we knew we wanted to contribute in the discussions because we have first hand experience of how appalling the current system is.

I had written notes on what I wanted to say, so I put my hand up to speak & was asked to share my comments. I was on the front row so I was asked to stand up & face the audience so they could hear me, so before I knew it, I was standing up facing everyone…..& then realised I didn’t have my notes!!!!

It was a room of industry experts, Parliamentarians & rare disease patient organisations. No pressure then!!! I felt so strongly about everything I had heard & everything we have been through, that I just spoke from the heart.

Once I got started I could have talked all afternoon!! (As anyone who knows me will be able to confirm!!) Especially because I feel so connected to the topic.

I introduced myself & Matthew & told everyone we were here on behalf of the Batten Disease community. I shared our connection with Batten Disease & felt very proud to tell everyone about Nicole & Jessica.

I shared our recent experience of the NICE process & being on the HST panel. That in May 2017, when Brinuera was given its license in Europe, that we would should have been celebrating, but instead, we were forced to fight for 2.5 yrs.

I told them about the amazing support we had & still have from Catherine McKinnell (as the chair had advised people to connect with their MPs). I ended by stating that it is shameful that this country forces families to fight for a treatment that could save lives, and that the current system is not fit for suppose.

It was an emotional afternoon, listening to people describe the same agony & distress trying to get a drug approved. One lady stood up & spoke about her daughter who she knows would benefit from Orkambi but is being denied. She said she does not know where to go next & what to do to help her daughter.

So it was very sad & infuriating as it was clear for everyone in that room to see, that the system is failing the rare disease community.

Having said that, it also felt empowering, that here we are, all sharing a common experience, speaking out about the injustice.
If we all come together, we have a louder voice & with Genetic Alliance leading the charge, it feels like someone has our backs & wants what we all want.

We are ready to help in any way we can because the system is wrong & we want to actively contribute to changing it, because we don’t want other families suffering like we have in the Batten Community.


We know you have followed our fight for Brinuera so you understand how much the Batten Disease Community have been through, but you now know how many other families are suffering because the system is wrong.


So it has been a very busy & eventful day, our little sweethearts being so amazing for their infusions, then Mammy & Daddy in Parliament.
It’s good to be home tonight 🏡

Thank you Auntie Jane for coming & helping with Nicole & Jessica so we could both attend. They had a lovely time with you💕