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MumsnetGuestPosts (MNHQ) Mon 27-Jul-15 11:59:50

Guest post: "A clinical trial gave us hope for my son's rare illness – but now the drug is being taken away"

Katy Brown's son has the rare genetic condition Morquio, but has lost access to the only drug capable of treating him - here, she describes their battle to get treatment reinstated

Katy Brown

Mother and campaigner

Posted on: Mon 27-Jul-15 11:59:50

(12 comments )

Lead photo

"Vimizim has given him his childhood back and has handed him the chance of a much better future."

For over three years, every Thursday my son Sam (who is now six) has missed school and endured an eleven-hour day. Firstly, he's sat through a hundred-mile, four-hour round trip to Manchester. Secondly, he's had a cannula inserted - sometimes suffering six or seven traumatic attempts to achieve this, drawn out over a couple of hours. Then, he's undergone a four-hour drug infusion, hooked up to a drip on a hospital ward.

Why? Because Sam unfortunately has an incredibly rare genetically inherited condition called Morquio Syndrome, and because he has been taking part in a clinical trial for the first ever treatment for Morquio called Vimizim.

Morquio Syndrome causes shortness in stature, progressive physical disability and ultimately early death. It's a pretty grim prognosis to hear when your first born is just sixteen months old. And, to add insult to injury, there's a one in four chance that future siblings will have the same condition. We were lucky. My younger son Alex is unaffected, but deciding to have a second child was one of the hardest decisions we have ever taken.

So when we were offered the chance of Sam taking part in a clinical trial, we didn't hesitate. The results for Sam have been amazing. He has grown, he is stronger, he has more stamina and is far more physically capable. Vimizim has given him his childhood back and has handed him the chance of a much better future.

Hope is a very underrated commodity. As a parent you do everything you possibly can for your children, but sometimes there are things that a kiss and a cuddle just won't make right. I can't change the fact that Sam has Morquio. I can't change the fact that he is almost seven and his three-year-old brother will soon be taller than he is. That he'll never win a race at sports day, that he's already spent more time in hospital than most of us do in a lifetime. That I'll probably outlive him.

Vimizim has given us hope. Not unfounded hope, but hope swathed in evidence that this drug actually works. I have lived it for the past three years. So with every fibre of my being, I will not let that hope, that chance, be taken away.


Vimizim has given us hope. Not unfounded hope, but hope swathed in evidence that this drug actually works. I have lived it for the past three years. So with every fibre of my being, I will not let that hope, that chance, be taken away.

For the past nine months, we have been embroiled in an almighty battle to convince the NHS to pay for this treatment. The drug is expensive, quite simply because the disease is so incredibly rare. The journey over the past nine months has been messy and complex, but suffice to say we have been subjected to multiple institutional failings, which have included delays, false promises, abandoned processes, absent processes, in essence a complete inability to quickly, efficiently and effectively make a decision to fund this drug.

There are just 105 sufferers of Morquio in the UK. A disease so rare and complex requires specialist understanding. Yet the NHS is trying to appraise it through a one-size-fits-all approach. It simply does not work.

On 25th June, Sam sadly lost access to Vimizim. The drug company, which had been providing it compassionately until that point, ceased supply of the drug because NHS England had committed to make a funding decision on that date. Yet after 14 months of deliberation, NHS England chose not to make a decision at all. They neatly side-stepped a tricky situation and deferred their decision to NICE, who are due to announce their position on 28th October.

So treatment has stopped. And now we wait, watch, and actively monitor Sam to record any decline, decline which may well have a permanent and irreversible effect.

Sam never chose to be born with an ultra-rare disease. He has the same right to treatment as any one of us, yet he is actively being discriminated against, quite simply because of the rarity of his condition. He is just six. He has endured too much already, yet he has given so much of his young life to medical research. How can that be right? He fundamentally deserves access to a treatment that is proven to work. His life should carry no less value than anyone else's.

When Sam grows up he wants to be a scientist or a fireman. He has no idea about the silent path that Morquio has set for his future. With Vimizim he may never need to know.

We are fighting for Sam's hopes and dreams. The preservation of the innocence of his childhood. The provision of those vital, basic building blocks of life - his health, his independence, his self-esteem, and his significant potential to give back to society and be successful in whatever field he chooses.

As a parent there can be no greater cause to fight for than that.

Follow Sam's story on Facebook and on Twitter @KeepSamSmiling. A crowdfunding campaign has also been set up by the MPS Society to try to bridge the gap and provide treatment for all sufferers in England until NICE makes a decision at the end of October.

By Katy Brown

Twitter: @KeepSamSmiling

noblegiraffe Mon 27-Jul-15 12:16:17

That's dreadful. Surely the pharmaceutical company which has benefitted from your family giving up their time, and your son giving them his body to provide evidence of the drug's efficacy has an ethical duty to continue to provide it for him?

wannaBe Mon 27-Jul-15 13:36:42

Tbh, this post is one where discussion is almost impossible other than to say that for a parent it must be heartbreaking to feel that you have what is a ray of hope taken away.

Sadly clinical trials, while offering initial hope do have the added down-side that there are no guarantees purely on the basis that they are trials, and that funding is generally given on the basis of the success of those trials. So even if someone is the one success of a clinical trial, if the majority are not then the nhs are unlikely to fund the drug based on the fact that the success rate does not justify the cost.

I read a similar article recently where a trial drug is no longer going to be manufactured on the basis the trial was considered unsuccessful, but that has been a blow to the people who feel that they have benefited from the drug at the time.

It's impossible to imagine what it must be like to have to pin your hopes on something which is still only in the trial stage, knowing that that trial could end at any moment and hoping that it doesn't.

Presumably if this drug is now at the NICE licencing stage then the outcomes are now known as to the success rates of the drug? I wish you and your family luck.

MarwoodsTrenchcoat Mon 27-Jul-15 14:27:40

Katy - so sorry you and Sam are going through this. A horrible situation.

Wannabe: the links above indicate that this drug has been approved in some other countries already, as the trials were successful.
I agree that this is not really the place for discussion, simply for wishing the best to the OP and other families like hers - the following I'm just posting for information for the PP as it was suggested there was an issue with the trial success rate, when it's about funding.

These articles may be depressing reading for people with a rare disease in the family / with a friend who has one.
Funding for very expensive drugs for rare diseases is an issue that's emerging because of recent and forthcoming medical advances in this area.
Here's a recent article which explains it from the viewpoint of being critical of drug company pricing: www.cbc.ca/news/health/how-pharmaceutical-company-alexion-set-the-price-of-the-world-s-most-expensive-drug-1.3125251
A BMJ paper from 2005 considering it from the UK NHS angle: www.ncbi.nlm.nih.gov/pmc/articles/PMC1273462/
Individual rare diseases are rare (duh), but cumulatively as a group, there are quite a lot of rare diseases, and thererefore quite a lot of people with rare diseases - and the individual drugs being newly developed, for more severe rare diseases especially, are often expensive.

Bilberry Mon 27-Jul-15 14:43:06

The problem with rare diseases is that there are relatively few people who will buy the drug (or have it bought on their behalf) to recoup the cost (many millions) of getting the drugs to licence and cover the costs of those that don't. This means drugs companies often aren't interested in researching drugs for these diseases (or for that matter diseases only common in poor countries). That is why charity-funded research becomes so important.

NICE aren't involved in licensing. As far as I am aware licenses can be issued for drugs that are more expensive and work less well than current ones whereas NICE in that situation would say only the current one could be used in the NHS,

I wish the OP and her family well in this difficult situation.

MarwoodsTrenchcoat Mon 27-Jul-15 14:56:32

@ Bilberry, here's another article which explains it's not primarily about development costs, but companies setting prices based on supply and demand:http://www.genengnews.com/insight-and-intelligence/the-high-cost-of-rare-disease-drugs/77900055/
Also ends on a note which is hopeful for the long term, there might eventually be generic versions of some of these - but of course that doesn't do anything to help people like the OP's son right now.

(Rare diseases have become a more profitable area of research in recent years: www.genengnews.com/gen-articles/the-new-economics-of-orphan-diseases/4660/)

giraffesCantBrushTheirTeeth Mon 27-Jul-15 19:18:16

I knew this would be you as soon as I read the title. I have a friend with 2 children involved in this trial. It is an absolute nightmare.

mindfulandgrateful Mon 27-Jul-15 21:14:02

Again agree that there are valid reasons for decisions made by the NHS and NICE - agree that NICE should be ultimately be involved in decision making but it's not the right forum to discuss this with OP.
Whilst I make clinical decisions every day when it is your child or loved one or indeed somebody's else's child or loved one we need to have limitless empathy and advocate for the families as much as humanly possible.
My heart goes out to you OP I hope you have good solid support out there.

UnderTheFloorboards Mon 27-Jul-15 22:30:10

Have donated x.

giraffesCantBrushTheirTeeth Tue 28-Jul-15 03:31:58

www.itv.com/news/calendar/update/2015-03-06/angela-speaks-of-her-life-with-morquio-syndrome/

Angela is able to work. Without the drug it is likely she will quickly decline and end up on benefits and need extra support.

I had the pleasure of meeting Sam as my daughter was in the same swimming class for a while. He is absolutely delightful and such a happy soul. I wish you all the best in your fight to get the treatment Sam needs.

HowD Tue 28-Jul-15 18:52:47

m.dailylife.com.au/news-and-views/dl-opinion/when-parents-overshare-their-childrens-disability-20150726-gijtw6.html?stb=twt

MarwoodsTrenchcoat Wed 29-Jul-15 14:37:08

HowD: there are many occasions when that point is worthwhile, and it should, generally, be made more often - but it's not relevant to a campaign that includes a fundraising drive and pressure on public bodies and MPs (the speaker cut off the OP's MP for being long winded after a few seconds, and then proceeded to rant about nothing much for several minutes himself). This is about getting medicine for people, rather than 'human interest' feature stories.

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