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.
KD-UK BLOG 
Nice report, Colin. I appreciate your sharing the highlights of the lecture..
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Fantastic to hear your views Bruce, much appreciated and thanks for sharing on your brilliant blog too
. KR from the KD-UK team.
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Well done Colin. The more we know, the more we can do to eradicate KD. Thank you.
Graham.
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Eradicate.
My teenage daughter fully understands the word and it’s implications for her. To discover at 13 that you could pass on the very illness that is destroying the lives of your family is soul destroying.
Now 15, she is heading off the rails. As a young woman she feels demonised by her friendship group if she mentions adoption, never mind other screening techniques. How could they possibly understand what it means to her? They don’t have a father who struggles with simple tasks or trying to get upstairs. They don’t have strangers ranting at their parents over disabled car parking spaces or assuming their father is drunk because he has fallen over…
The feeling of complete social isolation and lack of understanding from their peer group is something all our children are finding incredibly hard to deal with.
Eradicate. It’s a harsh word. My daughter understands she has to take it into account, but she’d rather be like her friends.
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Hello Victoria,
I’m sorry to hear about the incredibly tough time your teenage daughter is having with the harsh realities of this awful disease. We have two young daughters who carry the gene, they aren’t teenagers yet, however, they are well practiced at behaving as if they are teenagers already!!
We have known about the disease since the girls were very little so we decided to take the decision to be open with them about it. I feel they don’t fully understand the impact this disease will have on their life and their future at the moment. They do see the daily struggles that their Dad copes with, they know that there are many simple activities that they can’t do with their Dad, they see their friends Dad’s doing the fun things they can’t do with theirs, but their friends are well informed about the disease, the affect it has on their life, their Dad’s life, their Uncles lives, so don’t view them as any different.
We have been to speak to the school about the impact the disease is having on our lives and how Dad might not be able to collect the children from Prep Club as it’s up two flights of stairs, so they will telephone upstairs and ask the children to be sent down for collection! The school are incredibly supportive and have done whatever they can to support our girls on an emotional level. Our two girls have had children saying awful, hurtful words about their Father and being very unkind and upsetting, but these children didn’t understand the situation, they were ill informed and lacked knowledge and education about the disease. Once the school were informed about these awful events taking place the situation was tackled head on, it was explained what we as a family were going through and the children were informed about the disease and the affects their harsh words have on people.
Obviously we will never be able to educate everyone but we do need to spread awareness of the disease, the affects it has on family life and how research is vital to help the future generations. Perhaps these children who don’t understand the impact of their social manners will be the ones to help eradicate this disease from your daughters life and ours and all the other children out there affected by genic diseases.
It’s down to us to help them understand there is no normal these days, we need to educate them and their peer group and help them to look out and beyond themselves.
I don’t have a magic wand, I don’t have the answers but I do know that it’s down to us to share the information and help people to understand more about this disease. It’s helped us as a family and it’s helped our friends, it’s a little weight off our shoulders knowing that our friends and peer group know what we are struggling with and how we will continue to struggle more and more as time goes on.
Best of luck to you and your family. Please keep in touch.
Kate
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Hi colin
Very well written and as a 55 year old
Your description of living with KD is
Very similar to my own, infact it is encouaging for me to just know that small walks, and lots of conserving energy is the way forward! I have experienced the dry drowning a couple of times!! Its hard not to panic!
My brother is in the same boat! Anyway thank you for your story and wishing you the best of luck!!
Eugene
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I have just come back from the KDA conference in San Diego where Dr Fishbeck was presented with overwhelming evidence that the current NIH definition of KD was not only misleading, but wrong. Dr Fishbeck, who was present, could not refute the information presented and agreed that their (NIH) understanding of the disease was being broadened by outside information, but that knowledge had not stopped him from continuing to lecture using the NIH model earlier in the conference.
From the very first day of personal introductions at the conference, it was apparent that there were a number of commonalities in the presentation of symptoms of the KD sufferers that are not reflected in either the definition of the disease or in any research I have found.
Commonalities of speech pattern and tone of a majority of the 30 or so sufferers was the most obvious. While for some it was no doubt reassuring that they were not alone, for others not yet having developed a similar pattern, it was disturbing.
The clinical nurse at NIH confirmed that for years she has been able to tell if a person was calling about KD just by the voice.
It has not been studied to find if this is due to tongue atrophy, bulbar weakness, vocal chord tightening, or if it is due to or a protection from laryngospasm; Nor is it known if this is an indicator of disease severity or progression.
The importance of the clinical observation of numerous patients in a combined setting cannot be more dramatically demonstrated. The work that you are all doing in the UK is critically important to redefining this disease. UCL is making its presence know on the world stage and the UK Patient registry could be a key component in solving this disease riddle.
I would encourage you all to begin thinking about a UK gathering of the X-Men where, in the presence of clinical observers, you could discuss your lives and the impacts of KD. It has been unequivocally demonstrated that KD is not primarily a lower motor neuron disease and the sooner a comprehensive list of symptoms can be drawn up, the better.
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Hi Paul,
Firstly thank you for taking the time to post on the KD-UK blog. It’s great to hear you attended the KDA conference in the States earlier this month. It’s important to meet others affected by KD, hear how they cope and to realize you aren’t alone. It’s also vital learn about news regarding research into the disease. Times are changing and we feel that the unique connection between the UCL research department and the UCLH KD clinic in London are going to make some interesting discoveries and changes. They certainly give us plenty of hope here in the UK.
On March 24th 2017 the first ever UK Kennedy’s Disease Patient day will be taking place. It’s an action packed day with many interesting and informative speakers taking to the stage and a day when KD sufferers and their families all over the UK can come together, not feel alone and be part of a community.
We will be sharing updates of the day via our Twitter feed https://twitter.com/UkKennedys and FaceBook account https://www.facebook.com/pages/Kennedys-Disease-UK/1628376650717398?fref=ts keep an eye on these two social media outlets for updates and information.
In the mean time many thanks for your input and sharing your thoughts and information.
Best
Kate
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Thanks Kate, my wife and I have been investigating the possibility of attending the event in March. While I am interested in hearing what the researchers have to say, it is the stories of the patients we all need to hear. What an incredible opportunity to document first hand in a standardized form, the earliest memories of symptoms, childhood diseases, misdiagnoses and failed or successful drug interventions prior to the KD confirmation. What a great opportunity for a group of med students or even investigative journalists to get a glimpse of life with a rare disease.
I do hope that there will be an opportunity to have a room set aside the evening before and the evening after to allow those attending to really get to know each other and this disease. One of the highlights of the KDA convention for me was a friendly arm wrestle with another sufferer. While others were remarking on the twitches my arm was going through, I was amazed at the heat being generated by his straining muscle. As I myself get overheated easily when working I began to wonder if this too could be another clue in unravelling this disease.
Having gone through the agenda for the first ever patient day for KD in the UK, I do hope that you will consider finding some way to mine the incredible store of information each of the patients are bringing to this event. While it is always nice to learn that competent people are minding the store, success is most often found when the customer feels heard and empowered.
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Hi Paul
Once again thanks for taking the time to write on the KD-UK blog. We’re finding it’s a great platform to hear the views, thoughts and suggestions of other KD patients and their families. However, please do spread the word and let other sufferers and their families know it’s here.
The suggestions of a room the night before and the night of the Patient Day is a great idea. We discussed it amongst the Trustees and it was felt fo the first PD, we would keep it simple and see how the interaction between everyone plays out before paying for additional rooms. I”m sure you understand that the budget is tight and we need to ensure that every hard won donation is put to optimum use. However, it’s a great thought and certainly something that we will look into for future events.
As you may or may not know, KD-UK is run entirely by unpaid volunteers and we’re always on the lookout for bright people in the community with a passion to help. If you think you may be able to dedicate some time to fundraising, organising or anything else to help advance the cause and help spread the workload of the volunteers, we’d love to hear from you.
We’ll have to set up a new thread regarding the KD Patient Day or, of course please do email us direct with any questions or requests about the day itself. Also please do feel free to set up a new thread at any time and lets get the community involved.
Thank you and I look forward to meeting you in March 2017.
Kate
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