Tag Archives: Vascular Disease

HHT Kids

This is not just another blog post about HHT. This is the M&S blog post of HHT because things are about to change. Here come the kids! 

July 2020 has been transformative. For 2 years we, as a family have come to terms with a staggering diagnosis. HHT is an incurable, hereditary disease, which can be fatal. Having a personal diagnosis can be very frightening. Having two of your three children, your dad and your brother also diagnosed, all in one go, is off the scale.

You can read our full HHT story here.

It’s time to make a change. HHT is not widely recognised nor represented in the UK. There are no specialist treatment centres and trying to get your hands on up to date advice, let alone treatment, can take months and months.

Here’s what I’m going to do.

What

I’m going to launch HHT Kids. Primarily a website, HHT Kids will become the go-to platform for children, young people, and their families looking to access quality, medical-backed information, support, and a sense of belonging.

How

Having already established connections with HHT Italy, HHT Ireland, Cure HHT, Alder Hey Children’s Hospital, Great Ormond Street Hospital, and Boston Children’s Hospital VAC Centre, I will curate factual, medical-approved information and guidance for free digital access.

The website will offer information about the diagnosis and treatment of the condition in multiple formats. I would like to see walk and talk videos from clinicians to show children and their families what happens when they go to an HHT appointment/Genomics/MRI Imaging/ Phlebotomy etc.

The website will also feature case studies. Kids, writing, or creating unique art to illustrate their HHT symptoms, in their own way.

The website will feature important information packs for parents, caregivers, schools, nurseries, and community groups. This information will help those outside the family bubble to understand the HHT diagnosis and coping mechanisms.

The website will feature additional information which HHT sufferers can personalise to help others understand how they cope with their symptoms. ‘My Friend Has HHT’ and easy to complete, downloadable school packs, which families can pass on to school, will prove to be invaluable.

The website will offer practical advice from people with HHT. Tips on how to pack for travelling, competing in sports, what happens if your nose bleeds in the middle of an exam/at the cinema/while swimming, etc.

Developing relationships with amazing artists has enabled me to begin planning different ways of reaching young people with HHT. Thanks to Andy Reilly, Brian Denham, and Wedge Collective, together I am positive we can actively engage HHT patients with art therapy, creative challenges, and printed deliverables.

This will be the first initiative to acknowledge how important positive mental health can aid HHT daily life.

The HHT Kids website will feature a blog where users will be encouraged to contribute, along with updates from our amazing partners in medicine and genomics and our European partners.

There are no specialist centres in the UK. This isn’t a national charity nor is there any real understanding among health care professionals outside ENT or vascular departments.

There is currently no cure for HHT. I firmly believe it is vital the voices of HHT children and young people are heard and they are actively engaged with education and research which could ultimately save lives.

The wheels are in motion. Follow @hht_kids on Instagram to find out more. If you’d like to be involved with the project, please email: katereillyjames@gmail.com 

 

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Crocs, Geese, and Giant Strawberries

There are fundamental signs of getting old, and choosing to buy a pair of Crocs is undeniably one of them. It’s official, I am middle-aged. Shouldn’t I be buying a sports car and dating a 22-year-old?

Alright, so the old adage of suffering a mid-life crisis is a bit outdated, but seriously, I want my PORSCHE 911! I’m joking, although I have bagged a younger man, but that’s not news.

The weather during lockdown has been nuts. 30 degrees one day followed by 8 days of solid rain, followed by a week of mid-twenties and 40 days and 40 nights of rain again. Like I said, nuts. I wasn’t prepared for summer.

I panicked. I didn’t know what I was doing, I just knew I didn’t want to wreck another pair of Adidas Campus by wearing them without socks, to avoid tan lines and before I knew it I was on the Very website looking at flip flops and then didn’t stock my size in Havaianas and then after three hours of scrolling for stupid flip flops, I just went for plain black, hit order and logged out.

I wasn’t even excited when they arrived. I opened the bag and there, staring back at me, were Crocs. Not Crocs like, Crocs. They’re not mules that you slip your feet into. They don’t have air holes in the front, nor a strap that goes around the heel. They don’t have Crocs written anywhere on them bar the sole, and they don’t have the logo. Oh God, I bought Crocs, didn’t I? Shit.

The weather stayed warm and so I wore them, making sure to hide them from my teen in case she started legal proceedings against me. It’s been three weeks and so far, so good. Having published this, I won’t be surprised to find my secret Crocs have been kidnapped like in some summer sandal version of Taken. I can’t see Liam Neeson turning up to rescue my flip flops. Can you?

From crocs to geese! Yesterday I wrote about The Untitled Goose Game on Nintendo Switch and oh my days, it’s so addictive! The other worrying aspect of this game is realising that acting like a complete asshat is actually really fun! Scaring a kid into a phone box by honking at him, stealing household items from the shop, lobbing a pint glass in the canal, and smashing valuable vases is a riot! Anyone else played it yet? What do you think?

Where do the Giant Strawberries fit into all this, you may be wondering. It’s simple really. I managed to get a shed load of work done today, loads of research, I’ve started making more progress on HHT Kids too. Funding, set up, content creation, talking to our website designers, getting the ball rolling with organisation status, etc. I’ve cooked, cleaned, emailed, called, text, typed, and listened. All-day long. (Still no strawberries?!)

At 5:30pm we packed up some snacks and headed out to a new park for an alfresco dinner and some exercise. I met the cutest dog, annoyed my boyfriend by calling him for no good reason, took loads of photographs, hid my little boy as he took a quick leak in the bushes, and cycled home. Bit of TV and everyone into bed.

Here I am, trying to not rustle the packet of Giant Strawberries I told the kids must have ‘fallen out of the bag at the park’ so I don’t have to share them. The old ones are the best!

 

 

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Summer Loving

It’s officially July. This makes me happy for many reasons. A fresh start on my Everton calendar (oh hi Tom & Dom), a fresh start in my diary and it feels like summer again, which to me, means great music and good times. 

I’ve just updated the Mixtape section of the blog with 31 of my favourite tunes for the month ahead. As usual, it’s a real mixed bag in there. Everything from Beyonce to Al Green, Doves, Nick Ellis, Sinead Harnett, Earth Wind and Fire, and the King himself. Give it a listen here and send over any new music recommendations to katereillyjames@gmail.com.

Elsewhere, it’s set to be a busy month. I’ve just had a second art commission confirmed, which I’m mega excited about, more on that soon. Having just gotten into the swing of things in my new job, I’m finding managing working from home difficult.

The kids are home all day and crave structure and while I’m learning all kinds of medical terminology and working out marketing strategy, they’ve been spending way too much time on their ipads. Back to homeschool planning and prep for me!

We discovered the most awesome Nintendo Switch game earlier today. Untitled Goose Game is bloody hilarious. You play a goose, let loose on a local village and the aim of the game is to be as annoying as possible at all times.

There’s a dedicated honk button and your to-do list consists of tasks such as ‘grab a pint glass and chuck it in the canal’ or ‘lock the little boy in the phone booth’. Honestly, I’ve howled laughing playing it with my very impressionable 5-year-old. I was slightly mortified when he asked me what a phone booth is?! God, I’m so old. Check out Untitled Goose Game here.

Absolutely chuffed for the Toffees today (COYB!) and a home 2-1 win against Leicester and our first penalty of the season, at Goodison. Still not loving the fake crowd noise but a win is a win! Bring on Spurs on Monday.

Had white chocolate Coco Pops for dinner (thanks again to @Kelloggs for the fab nutrition advice for HHT patients) while emailing the European co-chair of the VASCERN HHT group for some advice about setting up HHT Kids on Instagram. If you don’t already know my HHT story and why it’s so important to me to raise awareness of this rare, vascular disease, you can get the low down here.

So after a 3 mile, 9pm walk with the little ones, I’ve blitzed the house, prepped homeschool for tomorrow (for me and them), and flopped into bed to get my first blog of July done – only to realise it’s already the 2nd…bugger!

Happy July Everyone, hope it’s a cracker for you.

 

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HHT & Me

Imagine being on the train or bus en route to work, or in the office on the phone to a client, or live on the radio chatting about topical news stories, or watching your kid’s christmas play, or on a date, or simply just walking down the road….and your nose explodes with blood.

Imagine this happens 4 or 5 times a day, with absolutely no warning. This is just the start of life with HHT. 

Ossler-Weber Rendue Syndrome or HHT (Hereditary Haemorrhagic Telangectasia) is a genetic vascular disorder in which blood vessels form abnormally, this can cause serious bleeding. The abnormal vessels can be seen on the skin as red, sometimes purple spots. If a bleed occurs in a major organ, just as the liver, lungs or brain, it could result in life changing consequences.

You’ve probably guessed from the term hereditary, that I’ve had HHT all my life. I went through school having nose bleeds (epistaxis) all the damn time. Like, most days. My Dad and my brother were the same. Waking up to find my pillow case covered in blood was completely normal from the age of 10.

I loved sport, but often found myself on the side line with a wad of tissue shoved up my nostril. My poor dad could barely get in the shower each morning without his nose kicking off a stream of blood all over the towels and play fighting with my brother was guaranteed to have us fighting to get to the bathroom for toilet roll before too long.

My parents said we had ‘weak noses’ and seeing as we had never complained of any other, serious ailments, we just got on with it. We never had any notion of these symptoms being something much more dangerous.

Cut to May Half Term, 2018. I’m a mum of three. Two girls aged 12 and 6 and a little dude age 3. It’s Thursday, early evening. We’re having dinner and my 6 year old comes to me and says mum I don’t feel very well. A split second later she throws up handfuls of blood clots, and once she starts, they just keep coming. If you’ve ever seen the cherry-pip scene in The Witches of Eastwick, you’ll get the idea.

I call my mum to come and watch the other two kids and race the 6 year old to the children’s hospital, which thankfully, is just 5 minutes up the road.

4 hours later, the A&E staff still cant work out what’s wrong with her and why her oxygen saturations are at 83. She’s tired by smiling. Drinking and fully responsive. She has a seated chest x ray and we’re admitted to a ward.

In March 2018 I had taken her to the same A&E after 5 days of high temperature, when she went listless and her lips turned blue. After an x ray, she was diagnosed with influenza, admitted and then discharged with Tamiflu. Within 4 days she was right as rain and back at school.

Cut back to May 2018 and the chest x ray results came back. What had shown as a 50p sized area of inflammation in March, had grown to more than triple the size by May, and it was making my girl very, very poorly.

The respiratory team suspected tuberculosis and she was put into quarantine. I was sleeping on the sofa next to her every night over the bank holiday weekend. She was send for other observations but there was no definite diagnosis.

The Tuesday was a hot day. The tiny hospital room windows only opened a fraction and we were desperate for fresh air as well as news. Our respiratory consultant introduced us to Professor Calum Semple, a child health and out-break medicine specialist. Professor Semple came into the room, introduced himself, asked my daughter how she was feeling and what had happened. He examined her and then he asked me if I’d ever had nosebleeds and for how long I’d had the red spots on my hands and chest.

35 years worth of jigsaw pieces fell into place in just a few moments as Professor Semple explained what HHT is and how sure he felt my daughter, and likely me and other members of our family also had the disorder. Unfortunately for her, an abnormal vessel had formed in the lower chamber of her right lung and it wasn’t possible to stem/remove it.

A number of further tests were performed, a prescription for tranexamic acid was issued and a surgery date set for August 2018. Genetics were also informed and my eldest daughter and son were to have blood tests to see if they too were carriers. My eldest girl tested positive, my son is negative.

My middle daughter had a lobectomy on 21st August 2018 and despite a suggested 6 day stay in hospital, was home in just two. She’s made a full recovery and was even back at swimming lessons by January 2019.

The scary thing about HHT is that there is no cure. The bleeds can be as light as a nose trickle or life-changing AVM’s (arteriovenous malformations) in a major organ leading to stroke, organ failure, seizures, anaemia, an increased risk of major bleed in pregnancy and more.

There’s also a chance that absolutely none of these issues may arise, and you go through life without any HHT issues. The ‘ticking time bomb’ feeling however is having an adverse effect on my mental health since my daughter got sick. If it was just me, I could likely deal with that. But now we know my dad, my brother and my two daughters are all HHT carriers, I’m reminded every day that my loved ones are at risk.

The UK lags behind many other countries in terms of HHT awareness and treatment. I’m incredibly grateful for Professor Semple and the respiratory team at Alder Hey Children’s Hospital. A HHT clinic has now been established and my daughters are monitored regularly for changes in their health as well as offered additional treatments to try and aliviate the daily symptoms – ie. nosebleeds and fainting spells.

I am now a patient of an ENT specialist and have since had laser surgery on my nose in an attempt to stem the nosebleeds. Unfortunately it was just 18 days post-surgery before my symptoms returned to ‘normal’ and I was back wishing I’d bought shares in Andrex when I was a teen. I’m due a review any day now but due to Covid-19, there are many others waiting for an appointment too.

People who know me well, know I have nosebleeds at the most ridiculous of times. That list at the top of the article? All of those have happened to me on a regular basis. My worst bleeds last over an hour and leave me feeling tired and embarassed. Some have left me literally, covered in blood when I’ve not managed to catch the blood flow in time, one particular school-run sticks in my mind. All down the front of my coat and half my kids friends being too scared to come anywhere near me.

Christmas 2019 was particularly bad. My nose started at my boyfriends place. He knows about my HHT and I’ve managed to keep a lid on it for the most part. My nose erupted at his place, and I mean erupted. It was like an episode of Dexter in ther. Blood up the bathroom tiles, sink, floor, me!

After 45 mins sat on the floor and attempting to clean up, I managed to go sit on the bed. Only for the vein in my nose to blow a second time. Another half an hour later and I’d lost os much blood I was around 10 mins from heading to A&E for a blood transfusion when it slowed and finally stopped. I was so embarassed.

They happen every couple of months but it’s the lighter bleeds, which happen 4 to 5 times a day that get me down. The longest I’ve gone without a nosebleed, since my laser surgery in June 2019, is 5 days. 5 days of bliss. As I’ve gotten older my telangectasia (red/purple blood spots) have gotten prgressively worse and more noticeable. My tongue is covered in them and the ones on my face are much more obvious. My dad and brother both suffer the same frequency of bleeds and spots too.

My eldest daughter is 14 now and suffers with daily blood clots as well as bleeds. She’s had to sit out of lessons having fainted due to low blood pressure and anaemia. She’s embarassed about having to spit out blood clots, sometimes a number of days after her last nose bleed.

HHT is recognised as a rare diease, effecting 1 in 5,000 people. Many HHT patients go undiagnosed as nosebleeds can be quite common. Many HHT sufferers have AVM’s which cause no issues and HHT is very much a disorder which is acted upon when it presents problems. Reactionary rather than preventative and this frightens the life out of me.

There are on-going clinical trials for HHT in adults. Thalidomide has proven to be effective in reducing, and in some cases stopping nose bleeds (epistaxis) altogether. The Genomics team we’re working with have given us, as a family, incredible insights into genetic selection for the girls and if, in the future they want to have children of their own and not pass on the faulty HHT gene.

It was a genetic psychologist who, at an appointment to test my son for HHT, asked me for the first time, if I was okay. Having gone through a terrifying ordeal of seeing my 6 year old gravely ill and not knowing what was wrong. To discovering soon after that my loved ones are also at risk from the same dangers and then wondering what the hell I would do if it was me who got sick with an AVM. I had been running on auto-pilot for months.

It’s been two years since my daughter first got sick. It really is a case of every day as it comes and should HHT throw us in the deep end again, we’ll learn how to swim again. In the mean time I’m investigating what other treatments are proving to be effective and looking at research from other countries on how to combat the debilitating daily bleeding.

Of course I’m sat at my laptop writing this with a wad of kitchen roll up my left nostril while my eldest daughter is in the bathroom using up all the tissue for her own nose bleed. Just because we’ve normalised it at home, it doesn’t mean we, or more so, my girls should have to suffer with it.

If you or someone close to you has HHT and you’re based in the UK, I would really like to hear from you. Drop me an email Katereillyjames@gmail.com or find me on Twitter @Katereillyjames. 

You can find out more about HHT on the official NHS pages here. Also, the HHT UK Facebook group is a great place to get support and hear how other people and their loved ones are coping with HHT. Find out more here. 

 

 

 

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