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Sunday, January 26, 2020

The Missing

     



     They say the worst part of HD is watching your loved one deteriorate physically, uncontrollable chorea, poor coordination, having to help with everyday tasks, the feeding, the incontinence, the eventual poor swallow or mentally the violent mood swings and emotional liability that comes along with such a dire diagnosis. We are lucky - at present Mr W despite some chorea movements and some facial twitching looks to the outside world as really quite alright. Of course no one really sees or understands the constant fatigue he goes through, the constant isolation this causes for him as he sits alone at work at lunch because he just can’t keep up. He is still able to work, albeit finding two days extremely taxing but he’s committed to make it work for normality and with the hope of off label drug trailing on the horizon due to start in March we are just holding out for hope for a better future. Please God let this be our turn for a stroke of good fortune in health.
     Today I’m not going to talk to you about any of that because what the rule books don’t tell you is how to manage the missing. It is very rare that I get to experience the witty chat I fell in love with, the life and soul of the conversation as he once was.

     The conversations for a while now have become one way. Whilst when asked he can respond well one to one, Mr W never seems to want to generate any conversation and I know now how hard he finds this. When bustling home from a busy day at work, I just seem to talk at him with an array of challenges I faced during the day, all the things I want to talk about or just laugh about or simply ideas I want to bounce off, an achievement or a cock up... It’s all greeted with the ‘oh I see’ and ‘OK’ answers. What I do get is the constant repeat of questions, "How was your day? Are you ok? What are we having for tea?" And usually the same responses day after day after day, it’s kind of like ground hog day. My daughter and my husband argue constantly. He doesn’t seem to listen - his brain runs away on a one way train of thought and they clash, as I clash with him because it is SO frustrating. I can see his brain isn’t quick enough to keep up with situations, unfolding in constant mayhem of arguments between the pair of them. Raising a strong willed 7 year old was never going to be easy. It requires the art of negotiation and skill in picking those battles like a United Nations peace keeper crossing a field of hidden mines which he insists he’s managing but clearly he isn’t. I am now a referee in their nightly "he said she said" arguments. For me the silence is deafening and the bit I will never get over losing in our marriage. This is the bit that breaks a marriage, because all the physical difficulties can be overcome, worked around and the challenges can be visibly seen and understood. No one can truly really understand the impact of living like this 24/7 and I know 100% for sure at 39.5 years I sure as hell really don’t want to! So I guess this is it for me for the rest of my life then?? 

So tonight I’m sending out an appeal.... 

The Missing - last seen approx 1 year ago, 6ft, tall dark and handsome, really funny in his ways and always used to keep me on my toes. The man that mended my broken heart and made me laugh and laugh. The man who used to watch odd little documentaries with me. We used to sit up for hours and hours and chat about. The man who used to sit up and binge watch box sets until we couldn’t push it anymore at 3am because we knew we had to get to bed because our girl would be up in 3 hours.... To the man who used to do a million things in a day and just wore me out watching, it was so fun... To the man who used to bring me a cuppa tea and toast in bed every morning before he went to work... To the man who did all those things... If found please return because at 39.5 years of age your wife really needs you. You are loved and very much missed. Please come back.. 

This post is dedicated to the bravest man I used to know, my lovely hubby. I will love you always.

Sunday, December 22, 2019

The Wave Clinical Trial: 3 doses in a row

      So my last post left you on such a high note: my hubby’s first dose (the test dose) was a massive hit, as if our lives were enviably now beginning to move on to another platform. As a recap, the Wave Clinical Trial works by the patient having a first dose then it’s an 8 week wait before you start the 3 single doses of the ‘stuff'. Now the trial is double blind which means that neither doctor or patient know if the injected gene silencer is indeed that or a non drug! I was rather astounded at the effects of the first dose and noted that after about 6 weeks my dear hubby had appeared to return back to pre-first dose state. As you can imagine having a glimpse of my husband back was like an intoxicating bubble. I never wanted it to burst. 

      So as September peered around the corner, the anticipation of x 3 doses to be given over a 12 week period a month apart filled us with hope. September came and then October 2 doses in and then nothing!! Not a thing happened. My husband’s tiredness seems to be ongoing, his thought processes are still very much impacted resulting in him being unable to generate conversation or to express his thoughts as well as he used to. It feels like we are back to where we were! General consensus is friends and family feel his speech is clearer and there are some days when he isn’t so tired as others. As it's a clinical trial there is no guide stick to tell you if this will be a cumulative effect, or if the reduction of the mutant protein will take a while to build up, or if indeed we would see a result straight away. So if you ask me is he on the stuff or the placebo I still really don’t know at all! Was the first dose the actual real stuff to check he had no reaction? Was it a placebo effect? Is he now on the 2nd, 3rd and 4th dose of a placebo? Is he on the real stuff and it’s not working?? Or is the stuff maintaining his current level and he’s not deteriorating?? The answer is I just don’t know. The trial is due to end in February officially and his last dose is this month in November, followed by 4 weeks later an MRI and x 2 follow ups in January and February just a clinic appointment and the last one a phone consultation. Results of the trial take I think about a year to be published. 

     I can only jump to the conclusion at this point the clinical trial 1st round (we are on round 2) must have been successful as they have now collated clinical evidence that the higher doses of ‘the stuff’ have resulted in less harmful huntingtin protein being produced showing early evidence that this is having a good impact on clinical symptoms/progression as they are entering phase 3. To what degree it works, I don’t know and for clinical researchers I guess they don’t know either as it would be too early to tell I’m guessing! If you ask me today whether I feel he is on the placebo or the real stuff I'd say the placebo! In March next year as a participant of this Wave Clinical trial my husband will be allowed to have the real ‘stuff’ as a monthly off label drug via monthly lumbar punctures and therein lies the hope of our future. So I guess what I am saying is there is definitely hope out there for a better future for those with HD and plan to even give the stuff pre-symptoms to prevent even early onset. It certainly is the lifeline all HD patients and families have been praying for. 

    So from me watch this space... the future as always is racked with uncertainty and ever-changing symptoms which throw us massive curve balls but maybe there is a rainbow coming after all that rain. 

This post is dedicated to my husband the bravest man I know whose motivation is to ensure nobody else has to live through this, and to ensure that if his brother does have this dicky gene there will be a cure for him to live a HD free life.

Sunday, October 6, 2019

The Wave Clinical Trial - The Beginning

     So when you’re in, you’re in, and being in requires a lot of paperwork and another diary in our ever manic household to sync and run! We were invited along to our first clinical trial appointment for more bloods and details of the trial schedule. It is very clear why this trial has to be with early to mid stage HD patients: the schedule is a very tight programme of blood tests, MRI scans and lumber punctures, all before we even get to the first lot of dosing. During this first bit my hubby had to have an MRI completed in a different city. It was quite nostalgic for us to go back there as I had lived there during my university years; it was lovely to remember those nights of being young and completely free. The first MRI took around x4 attempts for my hubby to get right, his constant uncontrolled movements made it almost impossible for him to stay still. Usually they are quite subtle mostly but the MRIs require precision and stillness and he found this rather difficult; either way he made it through this bit and the next bit was the dosing! So the trial is what they call double blind. Out of the 4 participants on this phase 3 have ‘the real stuff’ and 1 has the placebo, neither the participant nor the medical team know if they have the real stuff or the placebo.. 
      75% chance of the good stuff though, good odds right?? I guess my hubby and I really do not know what to expect long or short term from this. We have had plenty of conversations with the research nurse Sarah who works for enrol, whom I have to say out of all of them I have become particularly fond of. She is a very experienced straight talking nurse who is in the midst of retiring and her frank ways are something which I appreciate greatly. My favourite conversations are the ones where she honestly tells me  "now this is not a cure, your consultant is not Jesus" and rightly so. The grounding of expectations is so critical as we are still living and continue to live under the veil of precautionary hope. During July, the first dose of either ‘the real stuff or placebo’ went in via lumber puncture; it required a 24 hr observation of bloods and neuro testing... and then we wait. If I am honest at this point I’m not sure I’m expecting change until after all the doses, but then we really don’t know so many things, the only thing we have to cling on to is the hope. 
     However, slowly just so slowly in the blink of an eye, so gently you could almost miss it, like catching a gentle breeze on a warm summer's day, I thought I noted change. It was not immediate and at first I wasn’t sure I was just wishing it to be so, but there in front of us we had witnessed change. At first it was energy that was beginning to come back. Chronic fatigue has been the absolute factor which has knocked my loving energetic husband off his feet. I would say at the 2 weeks post dose mark, this has been a noted improved factor and his speech is definitely clearer. Those movements now that have been feeding my anxiety have softened and maybe just maybe I begin to start to believe in the possibility that we are actually on ‘the real stuff’ AND maybe just maybe it might be working. Now I'm sure you're thinking am I just wishing/ wanting this? However, over the last 4 weeks I have realised that I am not. One clear example: post treatment my hubby has been back for his MRI and the lady who scanned him who did the last scan noted that it was so difficult to get the scan last time, this time x4 scans completed straight away, less movement noted. Today my husband got up and walked to work approx a mile, worked all day and walked home!!! His friends have commented that his speech is also clearer and I have to say I quite agree - even my neighbour has noticed!!
      Surely it can’t just be me, hoping and wishing and praying?!?! It’s been a very different and bizarre experience for me. You see, my mother dying of secondary MS in my twenties, my work (nursing patients with long term conditions) life has shown me time and time again, the best chance and hope we can all muster up out of all of this is in the small moments of a good day or a good conversation before slipping back into the black abyss of a spiralling life with little hope or regard for those supporting or on looking. This is particularly true of a Huntington’s diagnosis as the outlook is of such bleak hope and circumstance. For the first time in my life it’s as if the clouds are beginning to part and a beautiful beam of light, freed of this burden, has started to shine through. My mother always spoke of hope as guide, a start of newer happier beginnings and right now I’m beginning to believe in that little beam of light.

     This post is dedicated to all of those HD patients, families and carers and the most wonderful teams of healthcare professionals who dedicate their lives for us. We are so truly thankful.

Monday, September 9, 2019

You're In!!!!

     By far my favourite time of the day is around 5.30 to 6.30 am on a week-end. My household is usually asleep, I creep out of our bedroom to pacify the cat with breakfast, and it is there in the stillness of the moment that the day is just mine. The smell that hits me when the hot water hits the coffee and the familiar smell and sound of the toaster popping is a pause from an insensitive world. Today is a Saturday and I’m in this place, sat in my conservatory watching as the summer early morning sky changes from dusk to dawn. This is what I recently learned to appreciate about life. My last post left you with a tale of precautionary hope. I think so far in this roller-coaster of a journey this was truly toughest: the intoxicating option of being given an option. The management of expectation and hope I was unsure I had the ability to manage for myself or my husband, his brother and indeed our whole family. Hope is never a guarantee but is a path my heart always wants to believe in over everything. 
    So one rainy Wednesday afternoon in the community nursing office after a very manic morning, I sat looking at a pile of paperwork very much wondering if I should just get in my car and emigrate when my phone rang. It was my work mobile so of course I picked up. ‘Hello Charlotte, it’s Sarah here from the research department’. It rather caught me very much off guard so I left the manicness of our office and within the 20 seconds or so it took me to leave the room I had braced myself for the worst, the “I’m terribly sorry but on this occasion your bloods weren’t a match for the trial” and the “there is always things coming up in the future” kind of chat. In that very brief moment, I felt like a horse had kicked me in the stomach and every single part of my soul had broken in the thought of how on God’s earth do I tell my husband. So on the back stairs I sat and took the call.... ‘I’m just ringing to tell you that you’re in’..... *silence*... ‘I’m sorry, can you repeat that?’ I say. ‘You’re in. Your husband was a match for the genetic clinical trial, I’d like to book him in for the initial testing. I tried to call Paul but I don’t think he had a signal at work and you had both said you wanted to be contacted as soon as we knew’. It was right there in that moment I just had no feeling, no emotion no words, no worry, no anxiety, nothing... it was a surreal out of body moment. We spoke - I think - then I put the phone down. The next moments felt like I had won the lottery jackpot of like 100 million!!! BUT better, it was the prize of hope that no money can buy. I walked back into the office silent. My team were like "are you ok??" They genuinely leapt around in joy on that rainy afternoon, after seeing the fall and slow climb of their matron over the last 2 years, I’m so truly grateful for their kindness. My favourite part of this tale was telling my husband. I could hear him at work on the phone leaping for joy which I had not heard or seen in him do for so so so long.

    So this is it for us, we are lucky and so fortunate to be able to say we have been offered hope and on that rainy Wednesday we grabbed it with both hands and with hope (I say precautionary hope) we made our first plans to move forward because on that day we were in!!!

    I dedicate this post to my mother who I lost to secondary progressive MS in my 20’s she always taught me to never give up hope even when the sky was dark and it was raining because she believed the clouds would one day part. How wonderful it is in those bleak moments when someone offers you a rainbow.

Saturday, June 8, 2019

The Precautionary Tale of Hope

    So life was kind of just bobbing along when unexpectedly at our recent neurology appointment our consultant offered us the opportunity to take part in the recent clinical trials. All the science at this point suggests that during this trial the results have managed to silence the Huntingtin protein with good effect not only stopping the progression of HD but actually reversing the effects of this mutant gene. My husband and I were totally blown away by the opportunity offered to us. A lumbar puncture and a few blood tests wow – with the end result potentially being minimal to no HD – how amazing this could be.

    The bloods and puncture have been taken and sent off to Boston for review to see if we are the lucky ones whose specific criteria match the specific parameters for this particular trial. Again it's around 50/50 chance of us being a match for treatment. I have not given myself time to consider the implications of this news as 50/50 has never stacked in our favour before and generally stuff like this rarely happens to people like us. For us you have to be in it to win it, however I am riding that wave of low expectation and plodding along just wishing and hoping it lands on our door. Our consultant is a wonderfully intelligent man and has made very clear we might not make the cut but he was very kind to offer support of hope for HD in the future and its potential cure. Yet I can’t help wondering if  it’s too late this time for my husband but how wonderfully comforting this would be for his asymptomatic brother in the future. My husband on the other hand has been given a new beam of hope it feels like for the first time in a long time. His apathy has begun to lift and the tonic of future hope has started to take hold.

      I can’t tell you how much this warms my heart. Despite the subtle personality changes and chronic fatigue resulting in stumbling of words and social isolation coupled with chorea movement, luckily at present I can still see that beautiful man I married. This has led him to believe that his life could possibly now be his own again. He has ventured to believe he might have a chance to watch and feel the joy of his daughter grow fully, finish school, get married, attend her wedding... the list is endless. He has been given hope of a life we all take for granted and this by far for me is the most terrifying part of our journey so far.

     My fears lay in the intoxicating afterglow of built up expectation. Hope again on the toss of a coin that may or may not go our way. I don’t want to dampen his spirit; I see myself as a realist. This may not happen and I beg him not to build his hopes up. He tells me he knows, and then says "hey you know, we could get rid of that walk-in shower and get that bath fitted babe if I get this treatment". I am terrified about having to deal with the fallout of such precarious hope, yet remain hopeful that I am proved wrong. I hope, I wish and I pray for it to go our way for our family. 

This blog post is dedicated to my mother who taught me to never give up hope and always dream big #anythingispossiblejustkeepbelievingyoucan

Friday, May 24, 2019

We Will Always Have Paris



      So things in our household have been ever-changing. Sometimes it’s really hard to keep it all together and just keep up. This last 2 months alone, we have had work in the kitchen done, a minor surgery op (non HD related) which went terribly wrong resulting in a trip to the emergency department and a 3 night stay for my husband, following a post op infection and 2 weeks of daily dressings. Thank God I’m a nurse because that’s exactly what he needed right now. (Cheers for that one, life it was a cracking edition to the month of November). I have also had news of a death of a young close colleague of mine all whilst balancing a very very busy community matron caseload. I have also been supporting a group I set up with our league of friends - it’s a coffee hub drop in signposting group for friends, relatives or people with long-term conditions - we raised £80 at our annual Christmas coffee morning a good result for us all whilst being harassed by my daughter's school PTA guy to offer support with said up and coming Christmas fete: "It feels good to contribute" he tells me!!! #clueless!! At this point, I'd quite like to contribute to my own wellbeing this year -however that is an ever depleting project that I’m trying to claw back.

      Anyway, we decided in order to give my husband some good memories with our daughter, as he is at present well enough to enjoy time with us, we booked a trip to Disneyland Paris. Woohoo!! The bright lights and eternal happiness that Disney brings is really something that we all craved but I guess in reality life really isn’t like that. We had a lovely trip to Disney is my response to the outcome of the holiday - mostly we did (coupled with mostly because that’s the bit people only want to hear, so they can feel great about asking about my husband and leave feeling happy with only the positive details). However, the look on my daughter’s face meeting Snow White and eating Nutella-filled pancakes for breakfast was truly a delight, mixed with the joy on my husband’s face, with us all on the rides together and eating out every day is such a pleasure of a memory to hold on to.

       However, Disney is very tiring and has been taking its post shiny toll on my husband and I especially with the busy run up to Christmas imminent. We made some lovely memories and took some lovely photographs but underneath the joy of a smiling picture is the reality of how hard this is. It peers through like a sunbeam shining through a bedroom window under a partly open curtain. As tiredness takes over, my once very energetic husband is in a place which makes him feel low and knocks a staunch sense of reality into us that he actually is getting worse. The twitching movements, which aren't captured in film, are exacerbated in moments of tiredness ever creeping in on a daily basis. This has become less bearable for us both to deal with. I notice now how my husband sits alone when out socially or on his lunch break as he can’t always keep up with very busy social situations; every time my heart breaks further as the very outgoing sociable man I know and love takes a further step along that road I can’t prevent him from going down and I have no idea in these fleeting moments if I can bear to stay and watch, watch the man I love so dearly be broken down so slowly so cruelly both mentally and physically. I watched this with my mother who died of secondary progressive MS. At 38 and 11 years after her death, I can truly say I have never truly recovered but then no one ever really does do they ?

      Living with a broken heart is a path I prayed life would never take me down again. However Christmas 2018 is on the horizon and Christmas for me is a time for hope and appreciating all the things in life that I’m thankful for. Despite all of this, I remind myself how so very grateful and lucky I am in life to have had the gift of endless love and support from such a great husband and to know I have friends and family who are tirelessly there to hear my woes of yet another shitty day.

 So this post is to them: my life heroes, the ones who take the time to really listen and who just get it, the ones who are not full of empty offers but just turn up and help without having to tirelessly ask because they know I hate accepting help, the ones who bail me out when I’m starting to sink even when I haven’t realised yet that I’ve started to drown. For that, this year I am truly thankful.

Saturday, May 18, 2019

I'm fine, thanks for asking!

       Why ask?! When you care for anyone with illness, it seems at first that everyone is of course very concerned about the said person, half of which will actually offer support but then half again will actually follow through and be there and visit. My God, I adore these people in life they are my heroes. They take the time out of their busy lives to just treat you normally and actually care and ask and visit and offer without giving you the guilt of having to actually ask for help. They don’t pretend to get it but they do remember your favourite Chinese dish and know how excited you would be over a latest product they picked up for you because only you’d get it. God they remind me who I am and I cherish that over everything. I am so lucky to have handful of people like this in my life...

However, the other 75% of the population of friends / acquaintances give you the:

"Hi how’s your husband? And daughter?", the passing by concern.

Of course, I always reply: "oh they are fine thank you", followed by them saying: 

"It must be hard" and me saying ‘yes it is’. 

They bid their farewells and off they pop out into the world feeling great because they actually asked and feel better for it.

      Now I don’t mean to sound like a cow here but HELLO !!!!!!! I am not only here but I am an integral part of this situation. A genuine "how are things with you?" on occasion wouldn’t go amiss. I work to pay all the bills, I care for my hubby and daughter whilst balancing not one but x2 very complex diaries, I clean my home and mow the lawns and balance the books, I ensure I spend quality time with my family and I help my daughter with her homework. I cook from scratch mostly 7 days a week whilst trying to fit in a couple of runs weekly so that my new found food addiction to cope with life doesn’t end up with me having heart disease and Type 2 diabetes - I am clearly not one that can be out of the game at this point. I also have to cancel nights out with friends I know sometimes I let them down because despite working my ass off my family need me and I don’t always have spare cash!! I’d rather none asked than just being emptily offered a "how are you?" because 9/10 times they just don’t want to know or are fishing for gossip.

      Generally I’m ok - thanks for asking. Some days I’m shit when you ask but I know you don’t really want to hear this and I hope you never ever have to deal with half of this. Just please do not give me the ‘look’ or the patronising ‘pity voice’, I don’t want or need it. I’d rather you just crossed the street because in fact I’m a busy woman. The whole illness process has in fact ensured I have a life filter. I no longer have time for the sympathy crap or the fair weather friends who are just around for the good times; you are either in it or out. I really don’t mind but dear god pick a side because our life is too precious to waste and I really just want positive people in it, who want to be there and if you don’t want to then that’s all fine with me I’m so good with that and I hold no malice towards anyone, trust me this shit is as hard as gets it!! Just please don’t ignore me or ask me how I am out of guilt or for gossip I just don’t have the energy for life drains anymore.


 This one is for me # youdecide #life legends #herestothat 25%ilove youdearly