October 21, 2019 at 6:41 pm #13839
As I’m sure many of you know, the FDA has approved Trikafta, the long awaited “triple combination” drug from Vertex. This drug will be effective for 90% of the CF population. This is a huge win for the CF community! We have every reason to be thrilled and full of hope!
But as we celebrate together, I think it’s also important to remember the 10% who will not be eligible for this drug due to their specific combination of gene mutations. The battle is not over! We will stick together and continue to fight until everyone has a highly effective therapy option!
Do you or someone you know have a rare or nonsense gene mutation? How do you think we can stay united as a community in order to be sure those in the 10% aren’t left behind?
October 22, 2019 at 11:52 am #13851LizzyParticipant
My son (14) is one of the 10%. He has two, rare, severe (class 1) mutations.
I’ve been to protests in London as NHS England has yet to approve Orkambi, let alone a triple combo, despite these not being a solution for Isaac. It’s certainly a very wonderful and exciting time for the CF community! But I would be lying if I said that I wasn’t concerned that the 10% would be left behind. Our consultant says she has high hopes that Vertex (or others) wouldn’t let that happen, they will want to say that they provided the first treatments aimed at the underlying cause of the disease; for all. I hope she is right.
- This reply was modified 3 weeks, 1 day ago by Lizzy.
October 22, 2019 at 6:23 pm #13866
@lizzy I understand your concern, and I can’t imagine the mix of emotions you must be feeling. I’m 32 with CF, and this drug does target my specific gene mutation, but I have several friends who are in that 10% who aren’t eligible. I think it’s so important to keep fighting and raising awareness, even as we celebrate this victory. There is still a lot of work to be done!
October 24, 2019 at 12:55 pm #13896LizzyParticipant
Thanks for replying Jenny. Coincidentally a deal on Orkambi/Symkevi was agreed today in England. So much good news, after too long a wait.
I will be shouting loudly so the remaining 10% are not forgotten too. Just blogged about this here…
Have a great day, and good luck on the new drugs x
October 24, 2019 at 12:57 pm #13898
I was so happy to wake up to that news today, Lizzy! Such exciting things are happening for the CF community, world-wide! I’ll definitely check out your blog.
October 24, 2019 at 4:30 pm #13899Emily Kramer-GolinkoffParticipant
Just want to sincerely thank you for keeping the spotlight on the outlying 10% during these times of immense celebration and relief in the CF community. It would be easy to be consumed with celebration at such an enormous accomplishment and such a landmark day in the history of CF. As a member of the outlying 10%, I share in the extreme happiness and hope for so many CF friends. My happiness is joined by desperation. We want to be part of the celebration and we remain painfully aware that time spent waiting for more progress means lives lost to this awful disease.
One of my biggest fears has been that everyone would get a breakthrough and then go back to living their lives (an understandable response). My hope is now that we’re so close to 100%, we can use this progress to gain momentum – to race even faster, to push even harder in recognition of the fact that those of us left behind are still living with the same killer disease that CF has always been (and nobody know the horror of that better than the other 90%).
On top of that, enduring CF without strong glimmers of hope in the near future is the hardest thing of all. We need to fill the pipeline with lots of glimmers of hope for the 10%. We need creativity, and urgency, and we need the whole CF community to remain as deeply and fervently committed as ever before.
We are only as strong as our sickest link and I hope with all of my heart that nobody loses sight of those of us who are still struggling so much to endure. I hope that one day, we’ll be able to tell the story of the CF community that was 1 for all and all for 1, that used these advances to FUEL the race to rescue EVERY member and, critically, to do it FAST. Time to rescue is the ultimate question of life and death. While 90% is undoubtedly remarkable, I believe in science, I believe in the CF community, and I believe that we can do better and we must do better and do it fast.
October 24, 2019 at 8:57 pm #13900
@emilykg thanks so much for your comment. I think it’s incredibly important to make sure the voices of the 10% are being heard! A project is currently underway at CF News Today that will hopefully bring more awareness to all the things you just mentioned. I actually wonder if you’d like to be part of it! I’ll PM you in the near future with more details if this is something that interests you.
November 1, 2019 at 7:23 pm #13935Seamus ConlanParticipant
I believe that funding is key here and all of the CF community must maintain focus on the 10% and follow the lead of the CF Foundation Lab which devotes more than half of its efforts to research focused on nonsense and other rare mutations. I believe the CF community more than any other group fully understand the complexities of CF and have most awareness of why the 10% cannot be left behind. Funding for research must still be top priority until we reach the objective of cure found.
I also wish to draw attention to another group who are getting left behind here purely because of their geographic location i.e. Children with the R117H gene alteration in Europe. Kalydeco is a game changer for children with R117H but they are denied access to this by the European Medicines Agency until they are 18 years old. This drug is available to children in the US and Australia from age 6 months and above. The reasons why the drug must be approved at 6 months are documented in the link below:
I believe that Professor Guido Rasi who is the Executive Director of the European Medicines Agency has ownership and accountability here. In the coming years, I will take no pleasure in saying to Guido “I told you so” when US research papers and US hospital data confirm the importance of Kalydeco to children with the CF severe phenotype R117H 5T as there is no way of recovering the irreversible lung damage to these children in Europe. My frustration is primarily based on this needless irreversible lung damage in the absence of Kalydeco. Kalydeco has tested safe for over 6 years now.
In my opinion, Europe should have aligned with the FDA approval to children in the US back in 2015. The EMA are presiding over a situation where children with Cystic Fibrosis (R117H) must needlessly accept irreversible damage to all the affected organs in the body–lungs, pancreas, sinuses, and the entire gut for a period of 18 Years. Kalydeco treats cystic fibrosis at the root cause of disease, by restoring CFTR protein function to all the affected organs in the body and the US and Australia realise that if you start this treatment early in life(US and Australia allow access at 6 months but working towards pre-natal pending safety studies) studies show that you can add decades to a child’s life. The EMA by denying access to this drug until 18 years are shortening life expectancies and possibly removing decades from these children’s lives. They are working against countries in Europe who have signed up to the NCD Countdown 2030 accord in an attempt to prevent and control Non-Communicable Diseases (NCDs) by fuelling an increase in premature deaths for Cystic Fibrosis children with the R117H gene alteration. There must be more accountability with these accord’s if they are to reduce premature deaths and the Kalydeco to R117H children is a good example of why Europe will continue to struggle to improve their ranking in this regard. In my opinion, there is also a question over drug approval governance with respect to Kalydeco and R117H at the EMA. This is due to the fact that a disparity of 6 months and 18 years between FDA and European approval is not good enough where children’s lives are at stake.
November 1, 2019 at 7:24 pm #13936Seamus ConlanParticipant
The efforts of the Cystic Fibrosis Foundation are encouraging and the new focus on Path to a cure is trying to address one of EmilyKG’s concerns of doing things faster. The Foundation is challenging potential collaborators to submit proposals that will accelerate the pace of progress in CF drug discovery and development and intends to allocate half a billion dollars to the effort through 2025(see full details below): Important to note that the CF Foundation Lab devotes more than half of its efforts to research focused on nonsense and other rare mutations.
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