Shaken up. New news & bad timing.

[MiscellaneousAssortment]

I've written before about my fucked up (& mostly dead) family.

Mumsnetters helped me hold it together over Christmas. My dad died a year and a week ago. My sister died a few years ago and it's the anniversary of her death today.

I'm severely disabled, started to get ill 5 yrs ago.

The whole thing has been a living hell as my parents have shrouded all family history in mystery and silence. And deliberately lied about stuff that would have helped me and my sister, and my dad too. My mother has been particularly cruel and that's what my other thread was about.

Just had a call from a diagnostic service I gave a tissue sample to a few years ago when I got my first diagnosis. They've found a genetic abnormality which might mean I have something different from what I thought. It's in the same ballpark but from first glance it's more serious. I'd always hoped I had the mildest type of the original condition I was told I probably have. But this new one doesn't seem to have a benign type.

I don't know why I'm so shaken up. I knew everything was blurry and best guess as I have no access to my sister or fathers medical records.

She asked me if I could get my mother to give consent for them to access my dads post mortem. And they're hoping there was a saved tissue sample so they can run tests on it to see if he had the same genetic variation. It would help a lot in how my condition is managed and treated. And my little boy.

I will try and have asked them to send a letter explaining why they need access. But my mother won't. Just like I was blocked before. I really want to leave it all behind but I can't.

Oh god.

[marriednotdead]

Dear Misc, I read your other thread over Christmas and just want to give you a gentle hug

I hope you manage to get some rest tonight, and answers that don't involve the sham of an egg donor you had the misfortune to be born to.
Mine is narcissistic but has not come close to reaching the monstrous heights of yours

Thinking of you and willing you on

[MiscellaneousAssortment]

Thank you

I was officially a mess last two days. Have slept till now and am feeling slightly more together.

I phoned the genetic people back yesterday with more questions. And they said I won't know anything more until they've done another genes panel... Which will take 5 months. Only then will they start doing more tests/ stuff like family history and run other samples if they can get them / start looking at DS etc

Can't fall apart for half a year. Sigh.

I also can't wait that long either. I need a new plan.

[MiscellaneousAssortment]

Got the letter today, it really does say that I may well have x condition, I was kind of hoping I'd exaggerated it in my head. Then the awful line 'they'll be in touch in 5 months with any more details'.

No request for a cardiac work up, tests or anything to find out if I do have it what internal damage has already happened and if urgent (& major) surgery needs to happen.

I'm shocked and horrified. What the hell?

Considering life expectancy is just lower than my actual age, I maybe well be on borrowed fucking time. But yeah no probs I'll wait almost half a year before anyone follows up.

Can you imagine this happening to someone diagnosed with something like cancer. Phoned up out of the blue with a devastating diagnosis, saying you could very well die now or in a few months, and yes this condition can be monitored and there is a chance of successful surgery that though very serious can extend life for years... But we're not going to even see you you need it or start monitoring you for changes that mean you're body is a walking timebomb. Cos our study starts in feb and can't be hurried (though monitoring doesn't rely on this validation genetic study at all).

Jesus fucking Christ.

[PausingFlatly]

Ouch. So sorry it's confirmed what you knew.

Could you call tomorrow and ask the reason for the wait, and did they really mean 5 months?

[GiddyOnZackHunt]

Oh ffs that's terrible.
I think I would kick off a letter to PALS and your MP with evidence. As you say they claim cancer should start treatment within 3 months (although I was 5 months in diagnosis last year ) so life threatening illness should be similar.

[fusspot66]

I think you'll have to keep badgering. That is too long to wait. You are very articulate, so put it down in writing so it can't be ignored by the Consultant's team. I seems logical to me that a working diagnosis and monitoring could go on side by side.

[ThumbWitchesAbroad]

Hell, I'd get back to the consultant/ team with your points - while they should have realised all that already, they obviously haven't, so point it out very clearly to them!

So sorry it is the bad news you were hoping it wasn't :(

[MiscellaneousAssortment]

I know you're right. But why do I have to fight for anyone to help me? When do I get to get looked after? When does anyone agree that I'm as worth saving as someone with a 'proper illness'? I need help, not to lead a war. Why I am so fucking shit that people don't want to help me?

And why the fuck does this keep happening to me? Every time I think life is as bad as it gets, and I struggle and fight and try and cope, and I try to build my way out of it ... And then life goes out of its way to slam into me and knock me down again.

I'm not stupid, I know this isn't the way other people get to live. What the hell did I do wrong to be so cursed?

All I want is to give my son a proper life. And I fucking can't do it.

At what point do you have to give up? When do you stop doing the same thing over and over again? And of course the answer is, being a mother you're never allowed to give up. Never allowed to stay down when life batters your body and soul again and again.

Being maudlin and whining again.

[PausingFlatly]

It's completely shit. Of course you're worth saving. And you shouldn't be having to fight unnecessary logistical stuff on top of the unavoidable battles of getting through each day.

Plus the years of "not a proper illness" and "it's all psychosomatic /attention-seeking" are still destroying you, aren't they? Even now you have a diagnosis, genetic links, everything.

Whereas if you'd had cancer, that would automatically have been a "proper illness" from the start. And even if it was a terminal diagnosis, you'd be able to start getting to grips with that. Instead it sounds like you're still getting to grips with being believed at all.

[ThumbWitchesAbroad]

misc, lovely, you're absolutely allowed to be maudling and whinge about your situation - because it IS absolutely shit and unfair and unreasonable and everything else.

Not only did you start off with a bitch of a mother who wouldn't even acknowledge that you, your sister and your father were ill (seriously, how unlucky was that to get someone like her?), but you've been whacked with a disease that is hard to diagnose, been misdiagnosed, which may or may not have contributed to your current condition, and STILL they're not "getting it" in terms of dealing with it pronto.

You have every right to be pissed off, sad, angry, upset. EVERY right. I just wish you did have someone absolutely on your side, to be there for you and help you with it. x

[MiscellaneousAssortment]

So, it's me again. Late at night, DS asleep and I'm falling apart. Again.

I have an appointment with my 'main consultant' tomorrow. Who I haven't seen since 2014. And I can't cope with it. I'm going to mess it up. I always do. She doesn't take anything I say seriously. And I can't cope with the after appointment letters, when stuff is wrong and I know that funding for carers depends on these letters. And I fuck them up. The cardiologist letters says 'I'm well and managing'. I think she meant in terms of no arteries splitting but that's not the way it will be read. And I went to the pain consultant the day before all this news broke, when I was lasting on my coping face as otherwise I break down cod of all the anniversaries. He said 'wow you're looking better than I've ever seen you' and I didn't correct him. I went along with it and now everything leads to another and it looks like I'm fine. I am not fine. Shit shit shit.

I can't do it.

[Themodernuriahheep]

Yes, you can. Can you print this thread out? Because it will help remind you what you want to ask.

In fact , when I used to see DS' consultant(s) - as they said, more like a cricket team there- I used to email him beforehand with a brief update of key things over the last few months, changes etc, and the key questions I wanted to ask.

I think this thread has many of them, doesn't it? My incomplete summary which you could add to, cut and paste and send overnight to be read just before the consultation would be

DF died.
M has blocked access.
Want to know which condition and how to find out. Access to DF's record likely to be blocked again, but could be gone round, possibly
What should consultant or you do to address this
If you do have new condition, what are implications?
Want to know next steps for self, apart from getting df' s records, what needs to done to set them up
Want to know what care available for self
What about Ds? What testing and care available?. What are implications?.

Bon courage. Hand holding.

[Themodernuriahheep]

And printing this thread out, and the other one, will show that although on one level you are holding it together, the strain is huge and you feel you are not and are worried you may not be able to, with consequences for DS.

Hugs

[MiscellaneousAssortment]

Other stuff:

Hospital stay = need Op + drug changes (got under pain team who also chased some referrals & moved to their trust eg neuro, Physio? Pots, ? Nb can't do physio though)

PTSD, flashbacks & intrusive thoughts, panic attacks (from hospital stay/ my mothers behavior when he was v ill and then his death plus carer abuse from a few yrs ago). Disassociation from self/ body/ pain so hard to work out how I am/ reporting

Father died. Can't live like this, have to for DS.

Failed to do a colonoscopy but made me too ill to get to the hospital. Follow up? Nothing

Teeth, jaw, gums crap - referral made FYI

Neck problems & cervicogenic headaches massive barrier (not being dealt with? Postponed neuro from nov 2015 to August 2016, pain team?) nb urgent as work moved and can't get into office when 3 hrs a week.

Mobility hard, scooter but is electric wheelchair better? For work, hospitals, taxis

Pots appointment, medication at odds w new condition?

Drugs trying to titrate down - not cos pain better but cos don't have any other that works... V scary

Need cardio tests... What else?

[Pythonesque]

Remember the geneticists role is fundamentally about diagnosis and making suggestions only as a result of that. Other specialists are still and will remain responsible for actually looking after you, guided by whatever additional information the geneticists can provide.

So discuss the proposed alternative diagnosis with your consultant tomorrow. If it's really rare don't panic if your consultant's response is actually they need some time to discuss with others / go through the relevant literature etc - but if they are unhelpful then talk to your GP and get them working for you. Acute psychological distress by the way could be a reasonable justification for an urgent GP appointment, sometimes, especially if it's not something you've made any habit of!

Hope the geneticists can sort out access to any PM data and tissue, they will be experienced at doing that sort of thing though. I know the timescales are frustrating but there are several reasons why I think. Sometimes for some conditions more urgent work can be justified and attempted if there are time-critical reasons such as attempting antenatal diagnoses of rare and serious childhood conditions. But in those cases there may be no guarantee of success.

Hugs and best wishes.

[PausingFlatly]

I took in a photocopy of one of my filled-in care/benefit applications forms, after discovering that my doctor's contribution to the complementary forms was, ahem, less than informative. And that he simply had no idea how incapacitated I was day to day (as opposed to the special performance I could keep up for the 5 mins in his office a couple of times a year).

I had to explain what the form was for, and the sort of tests being applied.

It didn't go brilliantly: GP kept putting the forms aside and saying, "But why have you really come?" But we got there in the end and his form-filling improved markedly.

Your list is looking coherent. Good that you've got in the point about difficulty assessing/reporting how you are.

[Pythonesque]

Oh and about appointments.
Have you access to a psychologist for any of this? Pain team might be a route to one if you don't? Because there are things they should be able to help you with to allow you to move on / cope better with you own reality.

Consultant appointments that get postponed - contact their secretaries and ask for a message to be passed on that "that appointment you wanted me to have next month has been put back 6 months, just wanted to check that's ok with you" or similar. They may well not know what is happening (administrators thinking they are better than the doctors at deciding who should be seen ...) and may be able to get you seen sooner / overbook you on a clinic or whatever. (that certainly used to be the case - though of course nowadays it can be hard even to identify the appropriate secretary to use for some!)

Good luck.

[Themodernuriahheep]

Misc, that's brilliant!

I'm afraid I've got to go to sleep now as recovering from radio, but if you can send what you can in advance, great, but take this too . if you can't, take this with you, and a pen, and possibly another copy too for the consultant, and use it as a checklist, writing down the answers.

You'll feel much more in control and know what you need to sort out next.

There are almost no good things about this but, if you are one of 300, you will be interesting and there might be a support group. At one stage DS was thought to be one of eleven worldwide. We had brilliant support.

[MiscellaneousAssortment]

And that she knew all these years. Blocking records access

DS? Not sure what to say here, except no ones checking him out? Am going to a charity thing to work out what to tell him re health, and how to support. Anxiety, he lost his grandpa & dad, and me I'll and rely on carers. Plus reservations over his core strength & resilience, says PE hurts? Been referred to paed as he has stomach issues and lost weight... Is this related to condition?

Re more on my mouth - can't access normal dentist, jaw opening, local anaeasthetic issues, recovery and journeying home issues.

Basics: bed bound most of the time (20-24hrs a day), if go out even for a bit ill be ill for days after. Continual ice on neck, propan help or not?

Wrists Braces note to self need to put on for travel tomorrow

[Themodernuriahheep]

Looks good to me. Courage...

[MiscellaneousAssortment]

Courage has gone splat. Thanks though all xxxxxxx

[ThumbWitchesAbroad]

misc - if there's no one who can go with you and advocate for you, then yes, please print out this thread or at least your posts from it.

Write it down, then you can't go into "oh it's ok really" mode, even if they start off like that and you just don't disagree with them.

WRITE IT DOWN. Or print it out.

And YES ask about your DS too - if he's already experiencing issues, then YES they need to get onto it asap and YES you probably need more help and YES this has to be made very clear to them.

I know your courage is failing in the face of it all - but you CAN do it, you just need the tools to know how.

and strength from me - YOU CAN DO IT. ((((hugs)))) xx

[PausingFlatly]

Good luck for today.

And what Thumb said - write it down so you can't minimise when you're in there.

[MiscellaneousAssortment]

Thank you.

I didn't realize how ANGRY I was about the way this consultant / department has behaved.

And I know it wasn't deliberate as such, but she left me in a terrible state and her letter from that 2014 appointment stressed she was going to discharge me for GP to manage my condition... Which is ridiculous as it needs specialist management which gps are just not equipped to do. Also no one takes the situation seriously unless there's a main consultant, without one hcp's assume that everything is fine / stable/ not serious.

Meanwhile I'm seriously ill and in hospital for 2 weeks last year. The discharge form actually says how I 'presented with badly managed x'. And then my father dies, no one gives a shot or notices that half my family has now died of cardio stuff so maybe, just maybe, they should check me out too.

Then I get progressively worse and other consultants are still writing their letters to this consultant assuming some kind of basic management / advice to them will happen. And all that happens is more cancellations and postponements.

And now this genetic news and even before that the cardiologist I saw once for about 60 secs is saying (& writing) that the diagnosis doesn't make sense ...

So in my complete trauma about my mother, I didn't realize how it's not just her.

I'm distraught and angry and pathetically, scared of seeing this consultant. And I'm afraid of breaking down on her.

[PausingFlatly]

Is it possible to get a timeline down in writing?

"date Saw crap consultant, initial diagnosis of X"
"date Worsening of Y"
"date Op for badly managed"
"date Saw cardiologist, suggested Z"

And hand this over to the consultant so it becomes part of your medical record (copy your GP).

Seeing it all laid out may help her grasp the bigger picture. And, less charitably, make it harder for her to brush stuff off.

(A professional on MN in some life-or-death field said her mantra is "What would the Coroner say?" Stuck with me...)

But that may not be a practical suggestion when you have so much else to prepare. Or ask her to help you with your half-written timeline?