Help them to help us…

The National Hospital for Neurology and Neurosurgery (NHNN) in London, as you may know is researching Kennedy’s Disease along with the related ALS.  On Fridays they have a KD clinic which I have attended.  During one of these visits, I was told they had approximately 90 patients registered.  Not all of these are able to attend the clinic, so their test group is small.

There are several ways in which we can help.   Nobody knows how widespread KD is in the UK so if you know you have it, please register with NHNN so they can build up a map of distribution and identify ‘hotspots’.  This will enable them to inform GPs in that area and help people identify KD with less difficulty.

Once you have registered with NHNN you could arrange to have your blood taken locally and have it sent to London for DNA analysis. KD is a very rare disease so gathering data on it is difficult and more data means a better chance of understanding the disease.  We are currently trying to get blood back from my brother in Australia, that’s how important we feel it is.

If you are able, the next option is to arrange a visit to UCLH in London.  When I started considering being tested I was sent quite a few forms and at first they were very off putting.  We live in an age of health and safety and lawyers, the paperwork reflected that.  When we went up to London and saw the team my concerns were allayed almost immediately.

The first visit started with a set of standard medical questions.  All very straight forward and I had an ECG test done.  I was encouraged at any point to ask questions and they were not limited to strictly medical issues.  There is help available to KD sufferers and this was discussed. Although money is tight some help can be given towards travel expenses if required.

They are trying to first see how strong various muscle sets are, so we adjourned to the gym.  Here, the tests are varied depending on what you feel you are able to do, there is no pressure, if fact the person applying the most pressure was me. I find it very hard to stop being competitive, so it was good to have my wife with me to put me in my place.  The tests I took consisted of walking for six minutes back and forth on a 10m track, stops and rests are permitted.  Hand, arm and leg strength were also looked at.  I had agreed to have blood taken and was surprised at how many vials they took.  I have to admit at the end I was extremely tired so be prepared to have a good rest after it and some food. Remember you only do what you are comfortable with, they will also emphasise this.

So once they have the data what do they do with it?  The blood is analysed for genetic markers, sugars and cholesterol are also checked.  Your exercise scores are recorded as a base line.  Twelve months later you will be asked to repeat those tests and your profile will be assessed.  We all are unique with this disease as it progresses differently with everyone.  These tests will hopefully allow NHNN to predict short term how you will be and should you go on a drugs trial they will be able to judge the result based on your figures.

While at NHNN they have taken a skin sample to grow KD affected nerve cells to research with.  There was also a one off programme of MRI scans on wrists, neck and legs which again has a repeat of 12 months to see the possible change.

Kennedy’s disease is rare, I read 0ne in 40 000 people, four times more common than motor neuron disease.  So finding people able and willing to help is difficult but we all want a cure or at least a treatment.  If you are considering the above please contact Luca at NHNN and he will try to answer your questions and perhaps book you in.

Contact Luca by email at luca.zampedri@uclh.nhs.uk

Colin Hopps

29th November 2016

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‘You don’t know what you’ve got till it’s gone’ Colin Hopps

My mother was tested along with all her siblings; I was 41 and no sign of any problems. My elder brother by two years had however started to use a walking stick. So all I had to do was to be free of any symptoms for two years and then I would be sure of a non KD life.

I am much older and wiser now. Looking back I was in a fathers’ race at my sons school sports day, came near last, grey haired guys were going past me! It was four years later that it became apparent that my strength was disappearing. So here is the problem, this disease is very personal, unique to each of us. I have two brothers and we have identical numbers of repeats on our androgen receptor, the cause of KD. Our responses to it are vastly different.

This means I can only tell you how my version progressed. The legs are nearly always the first to affect your life. They carry a heavy load and are in constant use, with sometimes little recovery time. Up to the age of 45 I had a physically demanding job, lifting and frequently having to lift my body off the ground. This was getting harder to push up and I changed the straight push up to a mixture of push and pulling with arms. The arms were also unable to exert as much force as normal. I ignored all the above as getting older was a much more palatable answer.

I feel that of all the effects of KD, legs are the most life changing. Without them you’re in a wheelchair and that means a different lifestyle. At first there was a reduction in strength but not much else, subsequently I found aching in the buttocks was noticeable but not a real problem. My first disaster occurred at the age of 53 when in Paris and the queue for the Eifel tower lift was too long. It will be OK, and up and down the stairs I went. I got up the tower and down the tower, however, I had passed a point and my legs simply would not carry me more than 200 metres before I had to sit down. Bear in mind I had gone skiing the previous year albeit gently.

This has now become the norm. Aching legs, but at least the ache moves around the legs, shins, ankles, calves etc. The time for them to recover is directly related to the load, the time between rests and accumulative build up over days. We have just had a holiday of six days, I was careful but I now have a right shin that doesn’t want work properly 3 days later.

You can do serious, strain, damage to your legs. Again on a holiday, when everybody is walking off and you try to keep up. My legs have in the past taken 3 months to recover proper function, after straining! By which time I had given up hope of recovery. I have tried various methods to help my legs recover. Long periods of rest, say a week. I ended up weaker and unbalanced. Gentle use and soaking in a hot bath with arnica, lavender and rosemary oils has proved the best. I am currently 63 years old; I am still walking short distances preferably on level ground.

My arms have been less traumatic in their decline. I still have good range of movement and reasonable strength. However they tire easily and working at chest height or above is difficult and I am now excellent at telling other people (namely my wife) how to do things. I have good sensory use of my left hand but this is reduced in my right hand, in fact the whole of my right side is weaker than the left.

So much for my extremities, the part of my body to next be affected was my throat. After giving up physical work became a maths teacher, less work on limbs but I had to use my voice much more. At 50 my throat became weaker allowing air destined for my mouth to escape through my nose making me sound more nasal. Shouting became impossible, so I developed the strategy of counting to five while holding several textbooks. Then slamming them down on the desk! This usually did the trick. After 6 months the deterioration stopped and 13 years later no deterioration. I have cousins where deterioration did not stop and they cannot hold conversations. My throat however had more surprises and at about 55 I had a surprise when I inadvertently swallowed and the spittle went into my trachea I coughed but could not breath in, my throat had gone into spasm, it’s very pleasantly called ‘dry drowning’. Fortunately my brother had warned me about it but still frightened me, and everyone around me. I still experience choking, but my brother says he hasn’t for several years.

Within the last 5 years an additional problem has occurred while eating. Firstly my jaw muscles have been affected and chewing meat in particular has been very difficult, we have before now had to leave a restaurant because I could not find anything soft enough to eat. Swallowing also became difficult at about the same time, you will find people eat very fast and you will be the last to finish. I quietly hope they all have indigestion. This has not stopped us going out to eat careful choice of food and explaining to friends helps.
My latest challenge appeared a few weeks ago, starting with my neck twitching followed shortly by my neck being sore. Car journeys became unpleasant, the acceleration and deceleration pulled on my head and strained my neck. Then just as suddenly stopped, I still experience twitching in my neck occasionally but the weakness has stopped?

I have thought long and hard of how to mitigate the above. My priority as I said before, are my legs. So keep the weight down and do regular exercise, I walk and swim and play short hole golf. The golf tells me how my body is working and gives me hope especially when I have a good round. I find myself constantly working on new strategies and any that prove to be beneficial I will pass on.

I am aware you may or may not suffer from the above but if you have anything that can help others please let us know.

Lecture by Dr Fischbeck at Oxford University.

Prior to this lecture at Oxford, my understanding of KD has been superficial but after reading an explanation by Dr Fischbeck and attending his lecture at Oxford University I have a much better grasp.

We have a repeat of a CAG pattern in the Androgen Receptor gene on our X chromosome. If one has up to 36 repeats you will not have KD but 38 and above you will and generally the more repeats the earlier the onset and severity. These extra repeats cause us to produce a longer Androgen Receptor protein which isn’t good but in itself would not cause KD, it is the toxicity it causes to the neurons and muscle cells this in turn damages the cells and ultimately results in the death of these cells. Below is the more technical description, took me several hours and Wikipedia to get a basic understanding.

So what is happening in the world of research regarding treatment? Well there are research groups in America, Copenhagen, Padua, Nagoya and here in London and Oxford. There is research mainly in five areas.

Testosterone assists in the process of this toxic damage so they have been looking at reducing the level of testosterone. Trials have taken place in Japan and in the USA but the results show only small gains and unfortunately the side effect is to decrease the patient’s quality of life. They have not abandoned this line of research but are trying to refine the reduction of the androgen to affect targeted areas only.

A drug used for prostate cancer HSP90 (heat shock protein) has also been tested because it increases or enhances cellular protection and reduces the toxic effect. This has worked in mice; a trial is planned with patients.

We lose muscle strength due to the toxic effects and ways to strengthen muscles was investigated, but it was found that exercise was the least invasive and produced similar results to drugs used. So regular aerobic exercise is highly recommended, but care should be taken not to overdo exercise as this is detrimental to the muscles of a KD sufferer.

Another avenue being explored is injections of micro RNA focusing at altering the RNA to stop producing the mutant protein, has worked in mice, but in humans?

Lastly Dr Fischbeck is working with groups on a synthetic curcumin which show good lab results in reducing toxicity and strengthening the x cells ability to resist. We asked how this research was going and was told trials possibly in the UK would start in the near future. It was stated many times during the lecture that intervention at an early stage gave better results. So I asked what at 63 could I expect if trials went well, he stated he believed I could regain some of my strength.

I had thought that no treatment would be available in my lifetime hopefully I will be proved wrong.   To finish, Dr Fischbeck said our best tool for overcome this disease is Hope.

Colin Hopps,

Dr Kenneth Fischbeck is one of the leading figures in KD research. Colin attended Dr Fischbecks lecture as a representative of KD-UK in June. Colin, along with his two brothers, is a KD sufferer himself.

Andy’s Road to Venice

It wasn’t long after arriving in Nice in July 2013 that we were planning the next ride.  We’d organised a group of 25 cyclists and got them from Thonon on the shores of Lake Geneva to Nice, via the infamous Route des Grandes Alpes.  Between us, we’d raised more than £31,000, made new friends, developed outrageous chafing and lost many pounds but had had a fantastic experience through stunning scenery.  It just had to be repeated.

So, here we are, coming up for 3 years later and we’re in the final months before we set off again.  So far, we have 26 riders confirmed, a number that’s likely to rise, with a common goal – to ride from Chamonix to Venice and raise funds for our now-established charity, KD-UK.  This time, it’s harder without doubt – longer, steeper and a bigger jump into the unknown.  Over 1,000 kms and more than 20,000 metres of climbing, just on the main ascents.  Some of the days are monsters, more than 170 kms with well over 3,000 metres of climbing, taking us through the Swiss and Italian Alps, through the Dolomites and onto Venice.

Why Chamonix to Venice?  We’d considered the Pyrenees, Bordeaux to Barcelona, but the logistics of getting to and from weren’t ideal.  Then we saw that the Haute Route sportive had introduced an option from Venice to Geneva, better for us with many of the riders living in Chamonix.  Some blatant plagiarism with a small modification of the route and Chamonix to Venice was born.  It wasn’t until we looked closer into the detail though that we realised this is step beyond the Route des Grandes Alpes.

Now, I’m no athlete.  Those that know me can testify to that (or just look at me in lycra…).  The body of a knitting needle shoved through an orange, as someone once said.  I do love cycling, but won’t ever claim to be any good at it.  I’ve got the mental strength of a jelly and the physical endurance of, erm, somebody without much physical endurance.  The ticker’s had a few issues recently and I’ve found out that I have some sort of blood sugar paradox.  I’ll be 46 when we set off from Chamonix.  Or put it another way, a grumpy old man with a growing list of excuses why this is a massive challenge.

As of January 2016, I was 15 stone 4 (97.3 kgs).  Actually, a bit more, but when you cut out the Christmas lagers and kebab chasers, that’s what I was.  Before the Festive period, I had started a bit of turbo training (my bike fixed on a magnetic resistance thing) and swimming, but it had all gone to pot.

You can probably guess that road cycling in Chamonix during the winter is “limited”.  However, we have the mountains so the training began, mostly through ski-touring (walking uphill on skis with “skins” stuck to the base).  I’ve been leaving the house at 06h00 to tour up the slopes at les Houches, in the pitch black with a head-torch, reaching the top in daylight.  Payback is getting the first descent back to the car park, sometimes in unbashed fresh powder, making it all worthwhile.  The only other form of exercise has been sitting on the turbo again, an hour or so at a time, watching films and some of my old Metallica and Megadeth gigs on DVD…

So, with just over 4 months to go to the ride, I am down to 14 stone dead, having lost 18 lbs, just over 8 kgs.  There’s a way to go but, for the first time, I’ve been able to get out onto the road.  Believe me, the turbo is no substitute and the relatively flat ride from Servoz to Cluses and back was a real struggle.  The next few months are going to have to involve as much time out on the road I can spare, with plenty of climbing when the cols are open.  It all culminates in the Etape du Tour on the 10th July, which a few of the riders are doing, an epic route across 4 major cols, Mégève to Morzine.  It will be a real test before the ride itself, I hope you will follow my progress and that of the other riders until then.

Andy

 

Welcome to the KD-UK blog

You’ll have to bear with us while we find our feet, but welcome to the KD-UK blog.  Our hope is that this will become a useful resource for everyone involved with Kennedy’s Disease, whether sufferer, family member, fundraiser, friend or just somebody who is interested in finding out more and helping us raise awareness.

We hope to keep you up to date with the latest news on research and on our fundraising and awareness events, but we also hope it will become a place for people to share their experiences with the disease and offer support to sufferers and their families.  No topic or question is going to be dismissed but please help us fill our pages with useful and informative content!

Kate, Andy, Karen and Ian