OUR STORIES

My Story

I had always had different health problems all my life, as a baby in 1973 my parents were told I had a tumour with abnormal blood supply in my mouth in surgery I lost lot of blood doctors couldn't explain why. Number of other health problems came up as I grew older all of which seemed unrelated at the time. At 20 years old I gave birth to my oldest daughter, she was born 6 weeks early but was a good healthy weight at 5lb she always had problem with her breathing at first I was told it was because she was premature, then asthma. Once she hit her teens her asthma and her over all health just kept getting worse, more trips to doctors and hospitals then I can count each time we were given one reason or another for why she was so unwell who was I to question them they are the professionals. At 18 she left for uni at which point her health took a bad turn, my once healthy child was now very sick, her body wasn't getting the oxygen it needed her organs were being effected. Luckily a doctor at hospital near her uni thought she might know what was wrong avm three letters I'd never heard of scan showed she was right my daughter had a massive complex avm in her lung so large and so complex doctors scratched there heads how to treat it. No one thought this avm could be linked to hht as it was so different from avm's normally associated with hht but doctor saw red marks on my skin so asked for test to be done, sure enough result was positive for hht. Shorty after my daughter avm was treated I received a clinical diagnosis of hht, pulmonary avm's and avm's. We all had genetic testing and my son was diagnosed with hht due to his nose bleeds we had already guessed he would be, he's now 16 and we hope to find out soon if he has any avm's. Thanks to a doctor who had seen avm's and hht this story doesn't have a sadder ending.

Caz

 

My short HHT story!! Difficult! At 63(soon) I have known I have HHT since I was Early 40's. Liver AVM's were discovered at the Cromwell Hospital's Liver unit. After years of annual embolizations which didn't work I still had nosebleeds galore and in my 50's developed heart failure. I am now trialling thalidomide to see if that works. Presently I am transfusion dependent and have started iron infusions.

Christine Bartram

 

I personally do not suffer from Hht.
But this does not make me any different from the people that do!
For example... my husband... my children... and grand children and other extended family .
I deal with Hht on a daily basis because of my family... My most treasured possession ! 

The most frightening thing about it,
was fear of the unknown.
And believe me I was terrified!
The majority of doctors know very little about Hht and unfortunately alot of negativity is contrived because of this.... and not to mention the lack of Empathy !
I used to get extremely upset .... but during the last 3 years I have searched the internet and managed to obtain lots of information and knowledge.
The more knowledge I have obtained the stronger and more Positive I have become ....
Being positive gives you an inner strength... and this is why I am 100% committed to raising Awareness and fighting for recognition from ALL medical professionals
HHT can be conquered and it will be!
Like all Rare Diseases...
UNITED we stand ! For the love of our Prescious Families ... and our HHT Family UK !

My moto : Don't take NO for an answer !!!

BE POSITIVE ! ♡♡

Linda Ray.

 

My nosebleeds started when I was in primary school but were very manageable. They continued into my secondary school but only got worse if I got hit as I played rugby for the school. After leaving school they ceased for sometime and in my forties I developed stomach and bowel AVMs. These were lasered and so far have been ok. When in my fifties the nosebleeds became unbearable. 9 lasers and one skin graft before I had the Young's procedure to give me peace of mind.

Peter Franks

 

My Story about living with HHT
Growing up in a small village in Aberdeenshire in the 60s/70s life was pretty straight forward; I was the youngest of 4 brothers (2 that were adopted) and 1 younger sister (Lynsey Jayes Mum). My Dad used to get nose bleeds regularly but don’t remember them being too bad when he was younger. I did get the occasional bleed but nothing too bad. When my dad got older he used to get more serious bleeds but like everyone else didn’t think too much about it. He ended up having his nose cauterized a few times which seemed to work for a little time but the bleeds just got worse. Our youngest son had his nose cauterised more than once when he was little as he used to get nose bleeds (he’s just been diagnosed as anaemic) and we still thought it was just one of those things.
It was only in the last 10 years or so that we found out about HHT as my dad’s father had died just after the war, it was only when he discovered his dad’s death certificate that stated under distinguishing marks it said “red mole”, I still had nose bleeds but usually when I blew my nose but would only take a couple of minutes with tissue to stop it. I wasn’t really aware that other family members had HHT until about that time. My dad was getting blood 2 or 3 times a week in the last 3-4 years of his life, there was nothing that could be done about his nose bleeds because he virtually didn’t have a back to his nose after all the cauterising! But what I do remember is that when the hospital packed his noses to try and stop a bleed he said it was the most pain he ever felt and he wasn’t one to complain.
I then became aware of my brothers having problems with HHT, Both have had laser and/or cryogenic treatment removing various blood “spots” in and around their nose and mouth. Then I started researching HHT and it was an eye-opener as to what it was capable of and one of the points were that once you got to 50 the symptoms would get worse and it was like someone flicked a switch as the bleeds would not stop and also during the night in my sleep which never happened before and I also had a blood spot came uo on the ball of my thumb which wasn’t sore or anything but often it would catch on when I put my hand in my pocket and would bleed for ages and I ended up getting it cut out, As I’m an HGV Driver it was to say the least “inconvenient” when I had a nose bleed when working. 
It was about 2-3 years ago that I became aware of my niece Lynsey Jayes had HHT along with 2 of her boys and about a year ago it brought home the seriousness of HHT when Lynsey had been found to have Pavm’s and had to go in for surgery and her consultant recommended that everyone in the family should be tested whether showing the classic symptoms or not. What I could never understand for years was when I had a cold I never got bleeds and then the penny dropped that was because my nose wasn’t drying up inside! As a hay fever sufferer one of the things I did was put Vaseline up my snitch until I read that because it was it was a petroleum based product that it can/will damage your lungs eventually so I stopped using it until my nose bleeds got too bad and found that I had to use it again and though it’s so frustrating not being able to blow my nose again!
I only get bad bleeds if I forget to use it enough, My consultant at haematology in Aberdeen (the same Dr my dad went to) said he would look into it and as I’m waiting for an appointment with him after having MRI, Ultrasound and Echo bubble scans I may find out soon if it’s safe to use. I have tried other gels such as KY jelly but found it was too runny,
And I tried Neilmed spray to but that was before the bleeds got too bad. What gets me about HHT is that there seems to be no consistency in referrals as in my family out of 4 each of us go to different departments, My eldest brother goes to ENT. My next goes to Maxiofacial and my sister goes to Genealogy so at least we know the gene so apparently it’s a simple process to get tested now. I have 2 boys one of which has definitely got it, he doesn’t have family so hasn’t passed it on but my other son who doesn’t show symptoms has 5 kids and although they don’t show any signs I’m advising him to get tested.
Fortunately my results are encouraging as the MRI was clear as was the Ultra sound but the Echobubble did show something but probably too small to do anything with.

Robert Pratt.

 

So here my HHT story.
I'm currently 30 years old and living in Leeds although originally from Aberdeen where most of my family still live. As a child I remember my Granda for 2 things, always wearing a cap and always having cotton wool up his nose smile emoticon.
I remember Granda started getting really ill when I was about 10, so around 1994 I think I first remember visiting him in hospital, where he seemed to spend most of his time in and out from then on and was eventually diagnosed with hereditary haemorrhagic telangiectasia (which he taught us how to say as kids lol). I remember mam getting odd nose bleeds but nothing serious, and I first remember getting little random bleeds around 19 when I had my first son, although again, nothing major. I remember my cousin Brian (Roberts son) being bother with nose bleeds around the time he was playing football in his early teens. And since Granda dying it became apparent that 3 of my uncles and my mum had started being bothered by nose bleeds and red spots in the same way that Granda had.
My first born son (now 11 ) started getting nose bleeds at around 3, I took him to the doctors a couple of times and was always told it's probably an infection of the little vessel and gave him some cream, gradually they have got more frequent but it's just something he learned to get on with a sorted them out in school or gets up and sorts his nose out during the night without bothering anyone, he's just used to it and not known any different. Then my youngest son Michael was born in 2012 and started getting nose bleeds at a matter of months old, these got worse as he neared the age of 1, and would bleed most times he cried, he is now just turned 3 and he gets random bleeds not brought on by anything and night bleeds. I took him to the GP and as my nose bleeds had gotten worse by then and I'd recently been told I had Ulcerative Colitis due to intestinal bleeding (im still not convinced it is UC, but time will tell I guess) I started to price everything together and wondered if this HHT Granda had was actually the culprit so I mentioned it to the GP when I went with Michael. His reaction to my asking if it could be that Jacob, Michael and myself could actually have this HHT was; " that's not something that shows symptoms untill middle age, how old was your mum and your grandad ect? You see! However I wasn't convinced so I went back again with Michael and Jacob after having found information of the HHT centre at Hull and demanded the 3 of us be referred to there. He just sort of shrugged me off and said he would get his secretary to look into how to refer, I chased the surgery up for months afterwards and eventually got referred and seen in April 13 at Hull by Prof Morice and Dr Robinson at the HHT clinic. They explained that they wouldn't expose children to radiation unless they displayed symptoms of Pavms but that they would all be called for screening now they were on the system at puberty, they were diagnosed based on telangiectasia s on the face, nose bleeds and familial history. They did however screen me since I had been to my GP on various occasions for breathlessness, they CT d me there and then and low and behold a large AVM with 2 feeding vessels on the left lower lobe. I had that coiled off in June and was advised to tell all my family members who suffer with HHT to be screened as none of us had ever heard of these Pavms before. I will now be screened annually and then 5 yearly for any further avms. And the kids will be contacted at puberty for Pavm screening. We have since found out that we have the Alk1 gene due to my mum seeing the geneticist. She has had many tests including a positive echo bubble, but a year on is still waiting for a simple CT to locate any Avms. Very frustrating seeing how difficult it is to be heard, treated and screened for anything HHT related in the UK. I am very lucky to have managed to get my referral straight to Hull as it seems many GPs are reluctant to do this. The lack of understanding is quite scary and the fact I was told my kids can't have HHT untill they are middle aged by a trained medical professional is quite worrying, but being armed with the information from the net and demanding that the GP refer me could have potentially saved my life, I'd been walking around with a large Pavm that hadn't been picked up on chest x rays performed over 2 years to try and seek an answer for my breathlessness.

Lynsey Jayes 

 

Hi I'm Vikki I'm 23 thought I would tell you my story so far ... I found out when I was about 14 I have HHT I get it from my dad, his bother and sister have it and there dad(my grandad) not sure how far back it goes. Just get a noise bleed about 1s a week, some are worse than others bit like a tap. Didn't really think much of it all till I fell pregnant with my daughter clara, I was told lots more into on hht then and had a scan on my spine to find I have AVMs on my lungs so was unable to have an epidural. I had gas and air with my birth there was other pain relief I could of had but choose not too, I had to be nill by mouth just in-cause so if I had to have a c sections I would have to be put out. But all was fine after 12 hours I was holding my baby girl. Then about 3 months ago I coughed up blood, and had to go to a+e my doc then sent me to a hospital in London. So this week I went and saw the Dr Shovling in London she did test I had lung function test and blood test, they have found an AVM on my lungs so have to have a operation really nervous. But im so glad I went there found out lot lots more info she was very helpful and lovely this is my story so far xX

Vikki Pearson.

 

 

This is my story ~~

I grew up watching my maternal grandmother and auntie seeping blood from their noses from a very early age, I was always very frightened by this and when my little sister had a massive nosebleed, aged about 6 years old I was traumatised. Little did I know what life had in store for me.

We knew very little about HHT only that people had nosebleeds and then had to have blood put back into them. My auntie died in her early 60's from HHT related liver involvement but I have never been able to get to the bottom of it. I grew up thinking I had escaped this condition and although I had the occasional nosebleed I was fine and then.... along came the menopause and I started to have nosebleeds and lesions began to appear on my lips and cheeks. My GP sent me to a haematologist who monitored by blood annually and it was after one of these appointments that I was told I had secondary polycythemia and the consultant wanted to do further tests. By this time I had read huge rafts of information about HHT and knew who and where to get the best treatment if I needed it.

 

I was found to have PAVMs in both lungs and I asked to be referred to Dr Shovlin at the Hammersmith. My daughters came with me for my first appointment and I was screened and booked in for embolisation with Dr Jackson, but in the meantime I was put on oxygen as my levels were very low (at last I had discovered why I was always so tired). I have since had two procedures to embolise them, I think there were about 7, two of which were huge. So now my oxygen levels are in the normal range. I have had a few episodes where I have coughed up blood, but Dr Shovlin keeps a close eye on my lungs to make sure all is well.

So now all I have to contend with is the nosebleeds! compared to some people mine aren't so bad but I have suffered a great deal of anxiety in the past as I get really scared when my nose bleeds, I continue to practise using coping mechanisms to help me deal with this. I was also referred to Prof Lund and have had laser treatment twice at Royal ENT Hospital , which has helped a great deal, but I am continually trying to be vigilant and avoid any activity/food/situation that I feel triggers these bleeds, but it still remains a mystery.

As for my sister, she has horrendous bleeds on a regular basis but alas she just accepts it and is not very proactive in getting help, advice or treatment, she has iron infusions every so often which make her very unwell, I continue to try to educate her. One of my daughters bleeds from a lesion on her lip, but no nosebleeds so far, so I remain optimistic for my children.

Diane Williams

 

my story ....my family had not heard of HHT till 20yrs ago when my mum suddenly took ill they gave her warfarin for a suspected heart attack and she started to bleed badly from her mouth so had to give her a clotting agent to reverse the effects of the warfarin,Numerous tests later she was told she had HHT.When i was pregnant withmy youngest son who is now 19 i was sent by my gp to see a geneticist at st james in leeds and was told i had HHt because i had 3 of the 4 criteria i have recently been told i have micro pavms so i know i have all the 4 criteria but they cannot find my responsible gene i have small frontal nose bleeds which have eased since i had some lasered,and i have the bleeds that run down the back of my throat,the back of my throat always looks red as if i got sore throat (but i havent) and i have terrible trouble with my sinus i always feel blocked and the pain in my face and sinus is at times unbearable.

Amanda Burton

 

 My mum was diagnosed with HHT in her late 20's carried from Grandad. After coughing up vast amounts of blood when I was 21 I was misdiagnosed, but was later confirmed with having HHT. I have had several embolisations in my lungs but apart from that I do not suffer daily. I had a huge exterior bleed on my lung at 24 weeks pregnant & had to have a thoracotomy. I also suffered from 6 hour nosebleeds. My baby also has the gene but does not present any symptoms at the moment x

Kristine Gettings