6 weeks ago, I was told by the Dr that I test Gene Positive for Huntingtons Disease. 43. That is my CAG Repeat.
“Huntington’s disease, which is often called HD, is an hereditary disorder of the central nervous system. It used to be known as Huntington’s Chorea or HC. Huntington’s disease usually develops in adulthood and can cause a very wide range of symptoms. The disease affects both men and women.” https://hda.org.uk/hd
I’m not sympotamatic, yet. I am only 22 though, symptoms could develop anytime now, I just have to wait it out. I inherited the gene from my mother, who inherited it from her mother. Luckily, I suppose that’s the right word, no-one in my family has yet to of developed symptoms before their 60s, so they have all lived a relatively full life. Mum still hasn’t developed symptoms and she was 60 on March 1st, so I have my fingers crossed. I’ve known about the disease since I was about 13 years old, so I am not surprised nor am I upset or ashamed by the diagnosis. However, I have never dealt with the disease first hand, so no doubt I’ll be in for a shock when it does eventually start to affect mum, or myself but for now I will continue to go about my life as I was before it was given to me on a piece of paper and I will continue to enter into the research programme to try and help others – my Dr’s are intrigued into my family’s history with the disease, she said she’s only encountered about 4 other families that have such late development of symptoms, so I’m hoping me and mum can help, we can only try. I will try to be here for anyone who needs it, although I’ll probably be the one with all the questions about how you guys and how you’re all so brave and brilliant. For now I am going to continue with trying to keep my faith bigger than my fear, wish me luck.
All my love,
26 weeks, 6 months in. 14 weeks left. The bedroom is almost baby ready, we just need his Moses Basket & nappies/wipes. I have fully stocked his wardrobe 0-6months and got a few bits to 9m. To say I am excited is a bit of an understatement BUT oh my gosh why is pregnancy so difficult! My back aches, my hips hurt, my feet hurt, every muscle in my stomach feels like they’re being ripped apart. It hurts to walk, it hurts to sit down. I have awful reflux & it comes up everytime I bend over. It’s the most disgusting thing I have ever experienced. I am hungry ALL THE TIME. I don’t want anyone near me and I just want to cry every second. It’s just so draining, I just don’t know what to do. I love my baby but I really don’t like pregnancy at all😭
Rant over, hope everyone is well xoxo
sorry! Life just gets in the way sometimes, as everyone knows. Feeling a bit tired but quite excited for Christmas now it’s here, we get to tell my partners little one that she is going to be a big sister! That’s super exciting, she’s been starting to pick up on me feeling unwell and asking why my trousers hurt my tummy so it is really nice to finally be able to get her involved in everything.
Baby moved yesterday for the first time and oh my word did it make me feel light headed. I can’t be the only person to experience feeling so faint after the first time, surely? Every symptom you could possibly have through pregnancy – I’ve managed to suffer with. Sickness, nausea, eczema.. you name it! Thank God everything is starting to clear up now! Hoping I’ll be human again after 20 weeks! Waiting for a letter for a Heart Echo to check my heart operation from waaaay back is all good to go and won’t cause an issue – shouldn’t do, they’re just ticking all the boxes. They want me to go for another Genetic Counselling session with another neurologist about my HD to double check I know the risks of not testing the foetus etc. but I saw my neurologist when I turned about 8 weeks pregnant, and went through it all with him, he did a few motor skill and memory tests to make sure I was 100% and talked me through the testing and we decided together not to have the baby tested, so I don’t really want to go through all that rubbish again with a neurologist who doesn’t know me or my history etc, if I had any issues I could call mine! So I doubt very much I will be attending that meeting. I’m very certain we don’t need the test, like I said in my previous post, I have no intention of aborting the baby if it came back gene positive and I am hopeful enough science will have a miracle by the time me and my baby need it!
Does anyone else feel this away about having the baby tested? Or do you all feel like you would want to know? Opinions would be great!
Hope everyone is well and I hope everyone has a fabulous Christmas, all my love xoxo
Due 25/05/18, two days before my 24th birthday! I find out the sex mid-January. I can’t find the words to describe how excited I am. I have made the decision to not have the baby tested and to allow him to make it’s own decision when old enough to do so. I won’t hide anything about Huntington’s Disease from this child, I will be open and honest from the moment he is old enough to understand. My mother is 62 in March’18 and although hasn’t started showing symptoms yet, will more than likely begin to be symptomatic throughout babies childhood, and I’ll have to explain what is wrong with Nan anyway, but I don’t want HD to be brushed under the carpet anymore – no one in my family, except me, speaks about it. It is still so taboo and I want to help break that by teaching my child as soon as I can. I have enough faith in Science and Medicine to trust and believe that by the time I even begin to develop symptoms there will more breakthroughs in treatment, let alone IF my child begins too.
Anyway, sort of depressing HD stuff out the way – I’m having a baby and I am super excited!
I have been enrolled into a research programme for Huntington’s Disease. Me and my mum will be 2 of 80 people in this study, due to our history with the disease. Every 2 years we will go for an MRI & other tests to monitor or development(or lack there of) of our symptoms. Another thing I’m super excited about! Me and mumwill be some of the first selected to go forward into clinical trials etc as part of this programme. Mum is 60 and still has not started to develop symptoms! Xoxo
I have started making a garden! I have made a planter for some of my plants. We bought cabbage plants, sugarsnap pea plants and a herb selection. We have planted tomato seeds – cherry and salad, spring onions, runner beans, carrots, mixed salad leaves, little gem lettuces, strawberries and chilli plants. I also have 10 sunflower plants trying to grow. As well as all this I still have a selection of oriental salad leaves to plant along with 50 flower bulbs, and a selection of pretty ground covering flowers. Me and Scott have spent our time searchimf biologivL ways if deterring pests and how to build butterfly houses and hedgehog homes! I’m not entirely sure what has spurred this sudden interest in gardening and growing of things but it’s so much fun! Even if he isn’t loving it, I’m certainly enjoying it! He seems to be getting fed up of me talking about it haha. Oh well. Here is a picture of my half finished, sort of rockery & a few of my plants, lol.
I’ll update soon! Xoxo
My current book obsession, I absolutely love this book, people might ask “why read pretty much into what the future holds for you?” Why not? I am going to have to deal with it eventually, why not grab some first hand experience early on?
I should probably be scared. I’m not. I’m pretty nonreactive about the diagnosis itself but it has made me more self aware. I pay attention to my moods, I take a deeper breath before I let something annoy me. I live better now. I make better choices. I’m excited to try and help people, because that’s what I get to do now that they’ve diagnosed me. My family history with the disease allowed my Dr to enter me straight into research programmes to allow them to use me/my blood/my MRI’s in research… I’m not sad about any of it.
Not having many good “mental health” days recently and I couldn’t tell you why. So today that is what I am trying to focus on before I go back to work. Colouring in, catching up on my TV programmes, bubble baths & good comfort food – today it’s leftover pasta and red sauce from the lasagne we made last night and loads of cheese, with a bowl of speedy fruit salad! Doesn’t ever look pretty but always tastes bomb AF.