failing NHS. Withdrawing treatment

[bambi275]

I have looked up the drug and clinical trials - Batten Disease, is as Hamble says, an inherited disease. It occurs when an enzyme is deficient in the CLN2 gene. It is a very rare and fast debilitating disease. Cerliponase alfa was discovered in the US specifically for rare disorders of CLN2. The treatment underwent clinical trials in the US and again in the UK by the NHS. The NHS's findings were that the treatment created a 5% of improvement in the quality of life, and only 4.3% of improvement in mobility. Given the overall disability that the disease creates - this improvement is very slight and compared to the possible side effects the drug produces - it is of little benefit.
It is extremely sad when one hears of children so young suffering in this way - if I could act to bring back the health of every single one, I would do so - but there is little that can be done for these children - there is no cure. The Cerliponase alfa treatment is a tiny beginning. It may slow down the deterioration of the ability to walk - but that is all. The mental deterioration of fits, sight and hearing losses and motor ability in general would not be affected by the treatment.
As For Stephen Hawkins case - there are four types of the motor neurone disease ALS from which he suffers. The disease is again hereditary, and again affects an enzyme in the genes - but Hawkins was first diagnosed when he was 21 years of age which is late for the form that he is suffering from, but far earlier than the more aggressive forms of the disease. Generally those who are diagnosed around 50 years of age only live for approximately five years, as the disease progresses it affects the respiratory organs. Although Hawkins has suffered muscular deterioration, neither his respiratory system, nor his swallowing ability has been affected.

If you think his swallowing has not been affected then you haven't looked much up.

[said]

If you think his swallowing has not been affected then you haven't looked much up.

Oh yes, you are right. He is fed direct to his stomach. No I did not look that up I looked up the effects of his condition. Sorry!

[toothache]

Albion102

It is a completely spurious argument to cite Venables. Undoubtedly a costly regime, but one which seems to have worked for Thompson. The alternatives would have been either to let him loose in society and free to cause harm, or to execute him.It costs California nearly $300m per execution.

Perhaps it would be quicker, cheaper and more effective and humane if they got a vet to do it. I’ve heard of people taking quarter of an hour to die whereas a vet puts the animal to sleep and overdoses so it dies peacefully and within seconds.

[shippy]

Albion Good morning

Terminally ill cancer patients can be helped tremendously
by both or either chemo/or radiation therapy. Having this
sort of treatment can give these poor souls a longer life.
Nobody should be denied the right to prolong their life if those
means are available...

Many people refuse those treatments and let's face it the decision
should be given to them regardless of their age. ( I am now
referring to the "Liverpool pathway"...in my opinion it's wrong if that
choice is not given...

My late husband was fighting terminal cancer for four
years...I can honestly say that those precious years were
not easy for him, ( and for myself as his sole carer) but I wouldn't
have had it any other way. He saw his grandchildren growing up, and
birth of two new ones..
We travelled doing cruises..he would go swimming, even with his stoma bags. So why not give people the choice.

I am a great believer in
prolonging life and I think in the case of those children
who are suffering that dreadful disease they need that choice..it's been proven that the medication they are taking has helped slow down the worst scenario of the illness, so let them have the help and possibly in the
meanwhile another treatment will be developed...

Many years ago I lost my brother, RIP, to aids..
Today he would be alive had the medication been available..
One should never lose hope and my thoughts are with those poor children..

Sorry about the spacing, I'm using my iphone ..

[VB123]

I have looked up the drug and clinical trials - Batten Disease, is as Hamble says, an inherited disease. It occurs when an enzyme is deficient in the CLN2 gene. It is a very rare and fast debilitating disease. Cerliponase alfa was discovered in the US specifically for rare disorders of CLN2. The treatment underwent clinical trials in the US and again in the UK by the NHS. The NHS's findings were that the treatment created a 5% of improvement in the quality of life, and only 4.3% of improvement in mobility. Given the overall disability that the disease creates - this improvement is very slight and compared to the possible side effects the drug produces - it is of little benefit.
It is extremely sad when one hears of children so young suffering in this way - if I could act to bring back the health of every single one, I would do so - but there is little that can be done for these children - there is no cure. The Cerliponase alfa treatment is a tiny beginning. It may slow down the deterioration of the ability to walk - but that is all. The mental deterioration of fits, sight and hearing losses and motor ability in general would not be affected by the treatment.
As For Stephen Hawkins case - there are four types of the motor neurone disease ALS from which he suffers. The disease is again hereditary, and again affects an enzyme in the genes - but Hawkins was first diagnosed when he was 21 years of age which is late for the form that he is suffering from, but far earlier than the more aggressive forms of the disease. Generally those who are diagnosed around 50 years of age only live for approximately five years, as the disease progresses it affects the respiratory organs. Although Hawkins has suffered muscular deterioration, neither his respiratory system, nor his swallowing ability has been affected.

ALS (MND) is only hereditary in 5 - 10% of cases. There are various forms of MND, with Progressive Bulbar Palsy being the one where life expectancy is lowest, as it affects the bulbar muscles first, which support swallowing, talking and breathing - it eventually leaves the person unable to do anything for themselves. It is a truly horrendous illness.

[Hamble]

The quality of life and prevention of prolonged suffering is paramount.

Early signs and symptoms of the disorder usually appear around ages 2–10, with gradual onset of vision problems, or seizures. Early signs may be subtle personality and behavior changes, slow learning or regression, repetitive speech or echolalia, clumsiness, or stumbling. Slowing head growth in the infantile form, poor circulation in lower extremities (legs and feet), decreased body fat and muscle mass, curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding, and constipation may occur.

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight, speech, and motor skills. Batten disease is a terminal disease; life expectancy varies depending on the type or variation.


In nursing care the side effects are great.
The risk of infection at the port sites for IV antibiotics anti epileptic drugs feeding tube painkillers etc.

Lung congestion from lack of upright walking.

Generally the risk of pneumonia and infection often kills before the disease.
It is hard to inflict painful treatment on helpless children if the quality of life is zero as in the older child.

What I find hard to come to terms with?
Morphine depresses a lung function already below normal function
therefore undoing all the positive effects of the new drug as it brings end of life quickly.

[bambi275]

That's the balance of any drug though Hamble, painkillers used on a constant basis can lead to a patient being in pain from the actual drugs used to prevent the initial pain.

[VB123]

As For Stephen Hawkins case - there are four types of the motor neurone disease ALS from which he suffers. The disease is again hereditary, and again affects an enzyme in the genes - but Hawkins was first diagnosed when he was 21 years of age which is late for the form that he is suffering from, but far earlier than the more aggressive forms of the disease. Generally those who are diagnosed around 50 years of age only live for approximately five years, as the disease progresses it affects the respiratory organs. Although Hawkins has suffered muscular deterioration, neither his respiratory system, nor his swallowing ability has been affected.

Only 17% of ALS sufferers have gene variants linked to ALS (including those without a family history of ALS) and 4% of people without ALS were found to have these genes variants also. https://www.sciencedaily.com/release...0621165937.htm

My Mum died from MND and thankfully her MND (PBP) wasn’t hereditary.

[Albion102]

Albion Good morning

Terminally ill cancer patients can be helped tremendously
by both or either chemo/or radiation therapy. Having this
sort of treatment can give these poor souls a longer life.
Nobody should be denied the right to prolong their life if those
means are available...

Many people refuse those treatments and let's face it the decision
should be given to them regardless of their age. ( I am now
referring to the "Liverpool pathway"...in my opinion it's wrong if that
choice is not given...

My late husband was fighting terminal cancer for four
years...I can honestly say that those precious years were
not easy for him, ( and for myself as his sole carer) but I wouldn't
have had it any other way. He saw his grandchildren growing up, and
birth of two new ones..
We travelled doing cruises..he would go swimming, even with his stoma bags. So why not give people the choice.

I am a great believer in
prolonging life and I think in the case of those children
who are suffering that dreadful disease they need that choice..it's been proven that the medication they are taking has helped slow down the worst scenario of the illness, so let them have the help and possibly in the
meanwhile another treatment will be developed...

Many years ago I lost my brother, RIP, to aids..
Today he would be alive had the medication been available..
One should never lose hope and my thoughts are with those poor children..

Sorry about the spacing, I'm using my iphone ..

Absolutely agree with you, I was merely saying that all life extending drugs are subject to the same cost benefit analysis. Sadly the truth is that whilst the anti-retrovirals used to treat HIV were very expensive at first, there was the long term prospect of them becoming cheaper and generally available because of the scale of the problem and indeed the remarkable effectiveness of the drugs. There are around 90,000 HIV positive people in the UK vs no more than around 30 sufferers of each variant of Batten's disease. Each variant requires its own drug therapy.

The key to Batten's disease (and much more common diseases such as CF) is going to be gene and T-cell therapy, and genetic screening rather than these treatments.

[Ceam]

My heart says everything that can be done should be done, But my head thinks this is more to the benefit of the parents rather than the children. When do you cross the line of being allowed to die with dignity?

It's a very sad subject, Which I often get very close to. I have a servilely disabled Son myself, Fortunately for us he's now very healthy and happy child/young adult. Sadly lots of the children I know who he associate with I can't say the same for. Many being terminally ill, Others considerably more disable/ill than my son. It's a different world and one that's very hard to talk about rationally.

Also I wouldn't put it down to a failing NHS, The problem is the NHS is to good for it's own good. It's capable of doing amazing things and sadly at the end of it, it comes down to money. There isn't an endless pot of it.

[shippy]

My heart says everything that can be done should be done, But my head thinks this is more to the benefit of the parents rather than the children. When do you cross the line of being allowed to die with dignity?

It's a very sad subject, Which I often get very close to. I have a servilely disabled Son myself, Fortunately for us he's now very healthy and happy child/young adult. Sadly lots of the children I know who he associate with I can't say the same for. Many being terminally ill, Others considerably more disable/ill than my son. It's a different world and one that's very hard to talk about rationally.

Also I wouldn't put it down to a failing NHS, The problem is the NHS is to good for it's own good. It's capable of doing amazing things and sadly at the end of it, it comes down to money. There isn't an endless pot of it.

Ceam, its so good to read that your son has pulled through, you obviously didn't give up on him and he also was a fighter...

The NHS has many failings and I'm sure that will be backed up by others here...But at the same time, it has a lot of good points...
The NHS is not the same as it was 15 years ago...but I truly blame the government for not putting brakes on tourist medicine....Because of the internet and forums, many people have learnt how to get around the system without paying for treatment...

It should be obligatory for tourists who attend the hospitals to produce insurance cover...Try attending A & E in the USA or even Canada..(Canada does not pay for hospital or medical services for visitors) I know from first hand experience a couple of years back...

https://www.theguardian.com/politics...osting-nhs-2bn

There is a question if the NHS are spending over 2 billion pounds on tourist health ...when oh when will they get the message that this is destroying the whole system which was set up for the British Tax Payers...

It wouldn't be a bad thing to stop and ask at immigration if the tourist has valid insurance cover...