PROCRASTINATING OVER THE CELEBRATING.
Today (27th January 2018) is Steve’s 7th Angelversary so I have come in to post up a new blog entry and poem in remembrance.
My previous Angelversary blogs and poems can be seen here:
2012 MOVING PICTURES
2013 RING A RING O’ ROSES
In the seven years since Steve hooked up to his angel wings there has been a lot of progress in the field of medical and biological science.
Like a lot of the Huntington’s disease (HD) Community I have been very sceptical when hearing news reports heralding a breakthrough. On December 11th 2017 however, just 17 days after I posted my last blog – REGISTRATIONS & MISCOMMUNICATIONS , there was an announcement that was hailed as ‘the biggest breakthrough in neurodegenerative diseases for 50 years.’ One of the scientists at the forefront of the research is Dr Sarah Tabrizi who I mentioned in my last blog.
A couple of the media articles are given below:
The story headlined a number of news channels and newspapers on 11th December but I was struck by the difference in numbers when the prevalence of HD was being quoted. Just looking at the text of the articles linked above we see:
The BBC state ‘About 8,500 people in the UK have Huntington’s and a further 25,000 will develop it when they are older’ . I picked up on the words ‘will develop it‘. By saying ‘will’ it suggests the 25,000 have already been tested and have proved positive for the gene. That seemed very odd as that would suggest a potential explosion of cases down the line.
Whereas, The Guardian state ‘About 10,000 people in the UK have the condition and about 25,000 are at risk.’ I was more inclined to think ‘at risk‘ was a more realistic representation.
I sought clarification from the Huntington’s Disease Association and they replied
We are quoting around 8,500 people who have the HD+ gene. Estimates from around the world suggest that there are about 3 times as many people at risk of having the gene. So it matches that around 25,000 people in the UK are at risk.
The Guardian will be relating to new mutations which will include Intermediate Alleles.
Since the Ionis announcement, we have seen a large referral rate and so have genetics depts and research sites. The HDA doesn’t know everyone who has HD in the family but we are currently working with around 5,000 people who are diagnosed with the adult form, 103 with JHD, almost 6,000 who are at risk and almost 4,000 carers. These figures are set to rise because of the HTT lowering trials.
I hope that helps to give some understanding of the figures but they are very fluid and variable.
Going back to the trial itself, it is worth noting that the new research does not herald a cure. Certainly, it is not announcing an instant cure or available treatment. We are talking the success of a very small trial involving 46 people.
In the trial, evidence was found to suggest a drug injected via a lumbar puncture procedure, affected the mutant huntingtin protein level. More importantly in drug trial terms, it seemed to show the drug was safe and well tolerated. I’ll leave it to HDBuzz to explain the science bit.
The fanfare was loud. Realistically though it is a long way off from being an automatic route within the HD treatment pathway if indeed it ever comes to being a signed off and available treatment.
Much more testing and monitoring needs to take place and only certain categories of HD patients would be suitable for next-stage trials etc. Again, it’s best that I leave it to HDBuzz to provide more detail by way of a very interesting yet very sobering ‘Ask the expert’/Questions and Answers (Q&A) report.
Whatever way you look at things, it is a very big leap forward considering so many have been treading water before now. I am, of course, very happy for those with HD or at risk who can at last see a little glint of light at the end of a very long tunnel. I would be lying though if I didn’t admit it hurts that the progress was too late for Steve.
Would I have been more excited had Steve still been alive and with me now? Unless he was still pre-symptomatic, or we had children and grandchildren at risk, I have to say the answer to that would have been “no”. That is not just based on the reality check that the HDBuzz Q&A report provides. It is based more on knowing Steve.
Back in 2008/early 2009 I had been reading about a drug called Memantine which some HD patients in the United States had been taking. The drug was actually approved for use by patients with Alzhiemers. As such, it was not normally available to people with HD and I was aware the UK seemed to be way behind in offering non-HD targeted drugs to patients.
I was not only reading the stuff you get by way of a generic sweep of the internet. I was reading the first-hand input from people on an American HD Message Board. Real people coping with HD at a post-symptomatic stage and it looked like the drug did seem to be having a positive affect from what I was reading.
Steve was due to have a check up with his Neurologist at King’s College Hospital (Movement disorders unit) in May 2009. I took the opportunity to take in print-outs on Memantine, including copies of the Message Board posts, to ask the Neurologist’s views on whether it was something worth looking into? He agreed to look at the papers and let me know his views.
I confess I was getting pretty desperate by then. In the space of a few months Steve had gone from walking, albeit unsteady and with a gait, to being totally wheelchair dependant. It was clear he was going downhill fast and I was keen to do something to halt the progression and try to wrestle back control by doing something; ANYTHING!
A few months later I sat down with Steve and spoke to him about Memantine to ask whether or not he would actually be willing to try it if the Neurologist were to say it could be prescribed? We had not had any feedback yet either direct from King’s, or by way of a patient copy letter where Steve’s doctor would be getting details of what happened when seen at the last hospital appointment.
I was keen to respect Steve’s wishes and I didn’t want him to feel any pressure/ambushed if the go ahead to prescribe was given at the next HD Clinic. I needed to explain it might not help anyway even if we did get the go ahead to use it, but maybe it would be worth a try just in case it could help him a little? I also needed to explain as far as possible the risks where it was untested for use on people with HD. No one knew if it could have negative side-effects making life even more difficult.
After explaining to Steve as best I could, I typed out and printed a sheet of paper which I placed in front of him and gave him a thick black marker pen. The note is shown below along with Steve’s response. You can just about make out a black splodge on the word ‘NO’. Steve was unable to write by then but he was able to hold a pen for a little while to make his mark bless him.
Looking at my typed note I see it is covered in liquid stains. That liquid was actually from a beaker of Guinness which I managed to spill in the bag I was holding papers in for the Clinic. Seeing stains would have made me annoyed at one stage.
The Guinness brings back vivid memories of how I would have to pack for every eventuality. Steve’s OCD around his time of needing his certain foodstuffs and drinks. I could relax more if we were held up waiting for hospital transport to get home if I had items with me just in case.
Now I smile with gratitude. Physical items which link directly back to time with Steve, be they pre or post HD symptomatic, are treasured. The Guinness stains simply remind me more vividly of our trips to hospitals and how I was able to do my best to anticipate what may be a challenge and plan accordingly. It is now evidence of a day with Steve, a tactile snap-shot in time.
In November 2009, we finally got sight of our copy of the Neurologist’s letter to the doctor.
Not a case of being lost in the post, just a very busy Neurologist. To the right is text extracted from the letter.
There we have it… The Neurologist had agreed to try Steve on a two month trial on the basis of ‘ there is probably not a lot to lose’.
Part of me was pleased the trial use of Memantine had been sanctioned but I was aware Steve had already been reluctant to try it so I would have to say “thanks but no thanks” after all.
I asked Steve again of course in the light of our now having formal sign-off. Steve’s answer was the same as before. Would it have made a difference and enhanced Steve’s quality or quantity of life? I can’t say but I am still glad that I took the idea to the experts, and more so that I took Steve’s wishes on board. Steve’s mental capacity was such that I still needed to give him credit for knowing his own mind on such an important issue.
Would I have opted for Memantine as a last resort if I were in his shoes? I think I would have said “yes” a while back based on the ‘not a lot to lose’ argument. However, I’m not so sure now.
In my previous blog I mentioned I would be seeing my doctor about my own health issues where being forced to change medication (meds). To cut a very long story short, after seeing the eye Specialist on 10th August I wanted to look into my osteoporosis meds to check they did not contain anything that could explain why my eye pressure is still abnormal.
Imagine my shock when the first webpage I clicked on showed this heading:
Osteoporosis drug strontium ranelate (Protelos) no longer available after August
The full article, which was posted in May 2017 by the National Osteoporosis Society (NOS), can be read HERE.
I immediately got in touch with my doctor and Pharmacy, who incidentally had just signed off a two month prescription two weeks before, and asked if they were aware of this? I also dug out a Memo from The National Institute for Health and Care Excellence (NICE). The Memo was supposedly sent to surgeries. It was clearly either not received or simply ignored as my news took everyone by surprise!
There is mention in the NOS article that safety concerns over cardiovascular risk was linked to low levels of prescribing. Interestingly the NICE Memo makes no mention of this.
Servier will cease production and distribution of strontium ranelate at the end of August 2017. This worldwide and strategic decision has been taken for commercial reasons due to the restricted indication/limited use of strontium ranelate, and the continuous decrease in the number of patients being treated with it
After the Pharmacy made further checks, I was able to get my doctor to agree to request my review with my Rheumatologist (originally due in mid 2018) be brought forward. I also insisted on a DEXA Scan so as to have a baseline to work from if not able to get anything in place for several months.
I got appointments for my scan and to see my Rheumatologist within a few weeks of my kicking up a stink. My Rheumatologist did not apologise for no one seeming to have got their acts together to tell patients. I was basically asked what I wanted to try instead.
The options on offer were a daily tablet – raloxafene (Evista) – or a monthly one – ibandronate (Bonviva). It was clear neither medication would be anywhere near as effective as Strontium. Indeed the results of my DEXA Scan had shown my overall bone density had increased by 1.5% for my spine reading and 7.5% for my hip on Strontium which was remarkable to say the least.
I had been on tablets like the ones on offer for years before Strontium was suggested. They had either been ineffective or I couldn’t tolerate the side-effects. I didn’t see the point in arguing so opted for the monthly tablet purely on a basis of less inconvenience.
There also followed a saga with my needing to challenge my prescription quantity. I may bore you another day with that saga as I am still not sure if it is resolved. Let’s just say it is along the lines of my poem ‘The Prescription’ if you have my book.
My experience with meds brings me back to the potential new HD drug/treatment story. Specifically two of the questions posed to Dr Ed Wild in his ‘Ask the expert’ session.
Will the treatment be cheap enough for everyone to have access to the treatment without restrictions because of costs to the NHS?
I understand that this trial has established the safety of the drug and an initial indication that it may be effective. Will the next stage look at persistence within the body to start looking at what sort of drug regime may be necessary? For example, a lumbar puncture once a year to inject the drug is probably acceptable, a weekly one probably not!
Their respective answers were:
It’s too early to have any clear idea about cost so I can only answer in general terms. Developing and testing new drugs, especially advanced therapies like HTTRx, is very expensive – but on the flip side, managing Huntington’s disease throughout its course is already very expensive in terms of care and lost revenue. It wouldn’t make any sense for a company to develop a drug that nobody can afford – that’s bad business. My amateur prediction is that we can expect a significant price tag followed by a negotiation between healthcare purchasers and NICE that leads to the drug being made available. We may need to work together to ensure it’s made clear to the decision-makers what the unmet need is in HD – but that’s a problem for when we know whether the drug actually works to slow progression.
Everyone involved wants to come up with a regime that’s effective but has the fewest possible number of lumbar punctures. I expect different options to be tested in future trials, but we don’t yet know what those options might be.
These are very good questions. They pose the potential issue of having an amazing treatment but the patient being denied access through lack of funding resources or availability. And, even if the money etc is available, is it reasonable to prescribe and administer if the effective/therapeutic dose can only be given via frequent lumbar punctures?
There is clearly a lot to be worked through before treatment can be signed off. We can only hope that if the drug does turn out to be THE greatest tool in fighting HD since sliced bread, there is not then a case of it being too expensive; too impractical; or too limited in terms of too small a HD targeted audience.
That audience is rapidly growing though. I understand HD organisations and research bodies are now seeing a sharp upturn in registrations as a result of the breakthrough announcement. It seems like people are finally coming forward and out of the HD closet. Something at last worth putting your head above the parapet now for no doubt.
If nothing else comes out of the announcement regarding the drug being rolled-out, people coming forward is the best way to get a better understanding of the disease in the here and now.
An understanding into its prevalence; the challenges facing those testing positive and even those testing negative; challenges faced by carers be they family or external carers. Future challenges to the NHS. Maybe this will lead to the NHS not thinking in terms of “can we afford this treatment? But more in terms of “can we afford not to make full use such a treatment?”
The potential for use in other neurodegenerative diseases is also enormous. Let’s hope this aspect helps to galvanise the potential wider audience beyond HD. The last thing the HD community need is to be told later down the line by the manufacturer is that they are pulling production on grounds of restricted indication/limited use. That would simply be too cruel!
I am aware of all the negativity this blog post is exuding. Perhaps I should swiftly move on to some better news.
We have a new recruit to the task force of HD awareness. Although nothing could ever fully fill the void that was left by Sybil when she went over the rainbow, Jackie Harrison and family decided a home is not a home without a Border Terrier.
Spike came to live with the Harrison’s a little while back. It looks like Sybil approved as a rainbow was in the sky when Jackie went to collect him.
As you can see from the photo he is already trying to recruit new families for Mini Sybils via @Jaq421. Please do think of re-homing a Mini Sybil and sending in photos and videos via social media. Spike, being a pup of the technology age, even has his own twitter account. Follow him @Spikeontour .
For my own part in raising awareness and fundraising, the HDA requested a snap of Steve and me plus a few words to use for a Christmas fundraiser.
They had set up a virtual Christmas Tree where people sponsored virtual decorations in memory of love ones lost to HD or currently battling it. The photo below is the one chosen and a link to the pinned tweet can be seen here.
Also, since I last posted, I have somehow managed to get one of my articles for another website onto a BBC News thread that commemorated Concorde; as well as getting a name check in the House of Commons! I will fill you in a bit more on the detail in my next blog. This one is already long enough as it is.
Before I close with a new poem for Steve, there is one more project that I have been involved with which has come to fruition.
Bringing proceedings back full circle to the reason for my coming in today, and wanting to remember Steve on his Angelversary, there is a new book out. Not a book by me but by the force of nature that is Ian Donaghy.
Ian wrote an award winning book a few years ago called Dear Dementia: The Laughter and the Tears. See Ian in action here on a Television interview as he spreads the word about the need for better understanding of dementia and better engagement by the public.
A couple of years ago Ian put out the feelers for doing a similar book covering the subject of grief. I sent in a few words and Ian included my entry under the heading ‘On the Beach’. I am just one of many contributors and each entry has been cleverly given a song title as a heading. Why ‘On the Beach’? You will just have to buy the book to find out.
The book was released in December and is called The Missing Peace: Creating a Life after Death. Contained within the 200 pages are anecdotes and stories of loss; love; life; hope; humanity; humility and even a touch of humour.
Each contributor has given their own take on grief or experience of it. Not just the loss of loved ones but of others who come and go in our lives. ‘Pets’ can be family and loved ones too and are also covered.
I would be very surprised to find anyone who couldn’t relate to at least one entry in the book, and who would not be helped by having their own experiences validated in some way. Reading that it is not just them alone who went through, or are perhaps going through, an experience they thought no one else could ever understand or identify with.
And so to end with another photo and a new poem for Steve. The photo was taken in 2005. Steve had cut his lip when shaving, such being the way of HD. He still has a beaming smile though!
Another announcement, another proclaim.
I turn up the volume, just more of the same?
This time it looks that the breakthrough is here,
And the media raves of a cure being near.
Drill down to the detail and whilst news is good,
There’s a lot to be noted; not misunderstood.
Patience is needed, much more to address,
But surge in engagement marks instant progress.
I glance at your casket, and give you a smile,
Too late for you, but it wasn’t your style.
You lived for the moment, you seized the day,
Looked up to the sunshine and kept making hay.
Happy 7th Angelversary Sweetheart. xx
Posted on January 27, 2018, in Uncategorized and tagged Huntington's disease; HD; Grief; Strontium; Osteoporosis. Bookmark the permalink. 2 Comments.