Missed diagnosis

[Jackgirl10]

Hi I was diagnosed with PV JAK 2 positive last year 2017 and was glad to find this site as despite being a health professional I knew nothing about MPN. Is it usual to have a long period of symptoms and lots of GP and even private consultation with a physician prior to diagnosis. I had an FBC taken in 2015 where my hb was 162 and Haemocrit 0.49 and platelets of 440 WCC 13.7. They were repeated In 2 weeks and even though my HB was now 16.4 as my WCC had gone down they were not followed up. By June 2017 in crisis I asked for review and my hb was then 202 and haemocrit 0.61. I felt very let down by my fellow heath professional as on requesting my GP notes I can see that I had classic symptoms high BP /night sweats/aquagenic pruritus/headache. Funnily I never got the one symptom I wouldn't have I minded weight loss! Is this similar to others experience? Is there a lack of knowledge in the medical profession about MPN Sorry for the rant but received my GP notes in accordance with data protection and think being a female in my early 50s just blinkered medics putting menopause as a diagnosis.

[Wyebird]

Jackgirl10. I’m ET Calr. I agree with you.The one side affect I would love, is weight loss. In fact because I’ve been rough these last few months I can’t exersise so I reach for the carbs instead, resulting in weight gain.🙄

Doesn’t Life sucks sometimes!

[Marossi]

I think you’ll find many people on this site had symptoms for a long time, sometimes years, before being properly diagnosed. In my case I had elevated platelets (above 500) since at least 2014 but was only diagnosed as having PV last October when a blood test revealed high Rbc and wbc as well as platelets over 700. To think that back in 2014 my GP told me that it was ‘just an anomaly ‘ and ‘nothing to worry about’ ! My hematocrit was 54 at the time of diagnosis and I just feel lucky I didn’t present with a heart attack or stroke. I had asked for a blood test last autumn as I felt not quite right - ocular migraines, headaches, dizziness, pains in my legs when out for a walk etc. I’m glad I followed my instinct and had things checked out - it’s all too easy to dismiss such symptoms and talk ourselves out of going to the doctor’s.

Your remark on lack of weight loss made me smile - I actually did lose a few kilos at the beginning due to decreased appetite because of enlargened spleen but panicked a bit that I was losing weight and ate more biscuits and chocolate than I should have so I’m back to where I was!

[Kari1961]

You really do need to be persistent to the point of being looked on as a nuisance when you have an 'invisible' illness.

I started to feel unwell in 2009... I had what my GP at the time said were vague symptoms. I felt like I had constant flu. Because at that time I was in my mid forties it was said that I could be postmenopausal, even though my hormone levels were spot on.

I lost track of the amount of blood tests I had. All apparently came back 'normal'

In 2012 I had, what I now know was a small stroke and spent 11 days in hospital. During that time they were looking at it being CIS (Clinically Isolated Syndrome) the early stage of MS. I was sent home with 6 months worth of physio to attend and a sick note!

In 2013 I moved to a new city, which meant a change in GP. I went for my initial health check, told my new GP that I was still experiencing the same symptoms I had back in 2009 and about the CIS diagnosis. She arranged a few hospital appointments (Neurologist and Stroke Doctor) They both confirmed that I had had a small stroke in 2012. Six months after that I woke up one morning with a massive blood clot on the top of my right hand... I went to see my GP, who noticed that I was scratching my leg and torso. No sign of eczema, so took a blood test.

One week later I was back at the hospital meeting my Haematologist. PRV was confirmed 3 months later in 2014. He said during my first appointment after diagnosis that he had looked at my blood test history and confirmed that I had PRV back in 2009 and that it had almost definitely caused the 2012 stroke!

How the high HCT was missed and not flagged for further investigation during all those years I will never know. I suppose now I'm just grateful that I have a GP who listens and watches out for unusual symptoms.

I also sadly haven't got the weight loss symptom!

[Cazbolac]

I was diagnosed with myelofibrosis 4 years ago and I am still finding that so many people are ignorant about the condition. For example i have been seeing a gynaecologist for 6 years with problems and he put everything down to menopause as soon as he heard I got night sweats. I am 53 and still not through menopause!!! He hasn't had another patient with myelofibrosis so he is totally scarred to do anything. He says he can't even begin to consider hysterectomy because of the risks. A lot of nurses and GPS know little or nothing about mpns so you are not alone. It can be so frustrating.

[Ovingite]

Hi Jackgirl10,

I guess that by now you have got the message that you are definitely not alone in this - very few medical professionals are even aware of MPNs let alone being proficient in managing them. It's frustrating, but very understandable. I live in a community of roughly 80,000 people served by 30 GP surgeries with an average of 4 GPs per surgery and I have ET JAK2+ which is found in 1 in 100,000 patients, so it is highly unlikely that many (if any) of the GPs in this area have ever bumped into a patient with ET.

This lack of awareness extends beyond the GP community into doctors / consultants in non-hemo specialties, dentists, physios etc. etc. You will find there are (at least) two common threads across this forum: support and information. I work on the principle that the only person who knows everything that is happening to me is ME, and the only people that are totally invested in my care are me and my long ultra-supportive wife, therefore I set myself the task of acquiring as much knowledge as possible about MPNs so th at I can "advise" HC professionals - albeit that I need to wear kid gloves to do so!

The very positive upside of this is that the more I understand about my condition, the less I worry about it and the more I feel in control of it.

Sorry if this is a bit long winded, but you raised a point that is relevant to many of us who don't have the luxury of being under the care of MPN specialists

John