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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One thought on “Help them to help us…

  1. Hi Colin

    Firstly, thank you for your energy and enthusiasm when you talk about KD, it is inspiring to hear of your short course golf exploits and no less positive to see your encouragement to us all to get involved in the research that the UCL team are making such a great fist of.

    I can only echo your comments regarding the importance of getting as many individuals with KD to register with the relatively new national registry at UCL and to engage with the team there as much as they are able.

    Having volunteered to take part in the current MRI process and having gone through the first scans, gym work and bloods last year, I do recognise that this particular exercise may not be for everyone, but it is essential that we get as many of our fellow KD sufferers to engage with the team on whatever level they feel comfortable with. Any and all information from as large a group of patients as possible is definitely going to prove the difference between slow or more rapid progress toward understanding of the disease and one hopes eventually, better treatment options if not for us, then for the next generation of those afflicted.

    As you have said and I can reiterate, Luca, Pietro and the rest of the team at UCL are completely focused on individuals’ appetites for exercise in their gym and the pace at which things get done; in other words they don’t set the agenda on how much an individual does and are extremely patient in all of their dealings with people. Getting the message out there that this new National registry and clinic is a massively positive development is key!

    All the Best and keep on swinging those clubs. We should have a game sometime?
    Ian

    Like

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