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The FHH chair is now a bench

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The FHH chair is now a bench

Post by Lucycatnaps on Wed Mar 11, 2015 10:16 am

Hi everyone,
This will be short but right now am feeling pretty awful.
Monday we took Scamp to the vet and he has joined Tazz and Steve.
Tuesday I had my appt with Mr P for my genetic test results, four months and still not back so had to wait for them to get it faxed from Exeter and then told it is FHH.
This morning, ring my endo sec asking where is my six month follow up appt after being seen last Sept and it is due now and I need to discuss options re how does it affect myself and my family.  Told many patients are way overdue their appointments, am on list but it will be a while as he is going on vacation soon, so it may be another 3 or 4 months before I can be seen, they will probably wait for Mr P letter which he also told me are delayed.  
So feeling left out to dry, all my muscle aches and reflux not caused by FHH, it runs a benign course, aches, brain fog etc depressive feelings maybe thyroid and discuss with endo.
Soooo at least Amanda has some company now if she can stand me. Smile
Life is a bit suck it up but maybe in a few days I will crawl out again.
Also back to worry about my neck lump as stuff was ruled out due to having a raised PTH with calcium, but if FHH skews everything blood test wise, how do they rule out lymphoma or Hodgkins??  So need to try and see GP as not Mr P area.
Hugs everyone and thank you all for being here when I needed a boost over the last year.
Sue xx
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Re: The FHH chair is now a bench

Post by Amanda Lynne on Wed Mar 11, 2015 10:32 am

Oh Sue I'm so sorry you have been sent to the FHH chair, that's crap.
I'm also so sorry Scamp is no longer with you, life can be really unfair and you are going through such a rough time.
How can it be that we are given the diagnosis told it's nothing to worry about yet we both have the same symptoms still, is that too much of a coincidence ?
If you want my email address for any info or just to compare notes, feel free to PM me.

Lots of love n hugs Amanda xxxx
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Re: The FHH chair is now a bench

Post by Lucycatnaps on Wed Mar 11, 2015 10:52 am

Thank you Amanda,
That is really kind of you and I will probably send you a PM when I feel a bit more human.  Did not sleep much, the usual why me? Is this the rest of my life? What about my children??? If I could just have my head back without the awful blues would make it easier.  I am tired of it all, but I guess as each day goes by it will get better, been told to load up on D and that might help me.  OH is away this weekend so will have some "me" time to get my thoughts together.  It could be worse, just tired of being tired all the time.
Hugs back Sue x
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Re: The FHH chair is now a bench

Post by Amanda Lynne on Wed Mar 11, 2015 10:57 am

You sound exactly like I feel.
Sending you lots of love A xxxx
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Re: The FHH chair is now a bench

Post by Hadleigh on Wed Mar 11, 2015 11:05 am

So sorry to hear all this Sue, I can't think of anything useful or helpful to say but hopefully when you get your head around the fhh thing you will be able to get on with life, these bombshells do seem less traumatic with time. So far this year doesn't seem to treating many of us very well Neutral

Rest in peace Scamp, safe journey I love you

Nelly
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Re: The FHH chair is now a bench

Post by Lucycatnaps on Wed Mar 11, 2015 12:06 pm

Thank you Nelly and Amanda,
What just heaps it on is the fact that our local hospital is understaffed and overstretched, there is not the timely support structure.  I know my endo is probably working his socks off and is entitled to a holiday.  I have so many questions and yet another long wait even though I should have a six month review now, it isn't going to happen any time soon.  He has to prioritise his time and some rare FHH diagnosis that runs a benign course is way down the pecking order when it comes to all the diabetes he treats.  I wonder if Cinacalcet may help my calcium levels, there was a paper in Denmark that used it with success in FHH. I am also going to try and push for a trial of T3 again, with the thought that MR P did mention that the British Thyroid Assocaition may be softening their view on T3 useage.
I've just been into town, beautiful sunny day here but very windy!  Quick whizz around the market, got my miniature daffs and a case for my mums new ipad, it shall be very interesting getting her using it, last week she said the nurses had been in and dressed her leg, then she said she needed eye pads, so I said Ohh what have you done to your eye?  Nooo she says, your brother is going to take me to get it, those tablet things.  What tablets Mum???  That thing you have for the net!  Finally I realised, Ohhh an Ipad! Great!!!
Hugs again, Sue x
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Re: The FHH chair is now a bench

Post by Kathi209 on Wed Mar 11, 2015 3:45 pm

Sue I am sorry your on the bench, but my hats off to the UK doc's to rule it in or out. In the US the genetic test is rarely done and I feel that could be a mistake on the US doc's not to test for FHH. I am thinking that it might not be as rare as they say. I have read that cinacalcet can help with FHH. I was going to post it on here for Amanda, but I guess I didn't. If I find it I will post it. Do you have any family members with this issue? Hugs Kathi

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Re: The FHH chair is now a bench

Post by Kathi209 on Wed Mar 11, 2015 5:00 pm

http://www.ncbi.nlm.nih.gov/pubmed/22142470


I hope that helps in some way.

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Re: The FHH chair is now a bench

Post by Little Audrey on Wed Mar 11, 2015 7:47 pm

Oh, my goodness, Sue, I now I see this post, and I am so sorry. I am not too familiar with FHH, so I am of no help to you, I'm sorry to say. At least you and Amanda won't be alone through this journey. Life sure stinks sometimes, and it seems lately it is really stinking for us all. I really am so sorry.

I'm also very sorry to hear about Scamp. What is going on here with our pets?! I have a kitty here who is not looking so well himself. I'm thinking it probably won't be much longer for him. This is so sad. I know how badly it hurts. I can tell you that Scamp is in good company up there!

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Re: The FHH chair is now a bench

Post by Admin on Wed Mar 11, 2015 9:06 pm

Hi Sue

I am not aware of any BTA change in their official negative view of T3. What have you heard?

However Dr Toft, who was one of the original authors, has changed his view and in 2102, wrote that there is a case for adding T3 to T4 hormone replacement.

Edwin
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Re: The FHH chair is now a bench

Post by Lucycatnaps on Thu Mar 12, 2015 9:42 am

Hi Edwin
It was during my discussion with Mr P that he was insistent that FHH does not cause brain fog, fatigue, memory problems or GERD, anxiety as PHPT does.  I have all these symptoms and low mood, poor sleep, muscle aches (presumably from low D).  I told him it feels like all the joy of life has been sucked out and that I always feel tired.  I feel old.  Thyroid came up and I said I had never felt 100% on thyroxine and had asked for T3 in the past and had been shot down.  That is when he said BTA maybe softening its approach and to talk to my endo.  How long I will have to wait for my already overdue appt is anyone's guess as I was told yesterday there are many patients all overdue their follow ups.  Local care here is basic and stuck together with many locums and long waits.  My GP is very good, but the hospital struggles.  They took all the student nurses out a couple of years ago as their placements were inadequate. Some bits are good but they are always short staffed and it shows.
How are you doing now?  I hope your Hb is on the increase, I know how flat and tiring it can be when it is low.  I will plod on for now, this FHH thing really has knocked me for six emotionally but I'll get through it.  A nice sunny day helps and today it is bright.
Take care of boh yourselves, Sue x
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Re: The FHH chair is now a bench

Post by Amanda Lynne on Thu Mar 12, 2015 12:30 pm

Hi Sue
Sorry to jump in on your conversation with Edwin. When I had my brief contact with FP via an email I sent asking about FHH, he told me that there were infact some symptoms related to FHH, I didn't actually find out what these were as he never got back to me when I asked him.

I still have GERD, brain fog, muscle pain, joint pain, low mood and have just found out that my latest DEXA scan shows same as previous osteopenia on hip but slight reduction in bone mass on spine !!! 
Which obviously is rather worrying as I've had PTH tumour removed I was hoping it would improve.

The other thing you may want to raise is that you can have PTH disease + FHH I've proved that, maybe it's not as rare as we are being told, obviously my op hasn't cured me but if I hadn't had it would I be in a worse position health wise than I am now ?

I know how you feel right now and I still haven't had most of my questions answered about this, I'm seeing Endo in July and will have a list of things I need clarified.

You will feel better about things eventually but it's not easy to just accept their answers when there is so much they don't seem to know about this.

Love Amanda xxxx
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Re: The FHH chair is now a bench

Post by Little Audrey on Thu Mar 12, 2015 12:46 pm

Praying for you both! I can only imagine what you are both going through with this crap!

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Re: The FHH chair is now a bench

Post by Lucycatnaps on Thu Mar 12, 2015 6:52 pm

Hi Amanda and Audrey,
Thanks so much for your support, to be honest I think there are so few of us that have this, that no-one really knows what is going on and as a rare condition it is not high on research lists.  They know surgery does not cure, it does not cause kidney stones or osteoporosis and it now may have some symptoms but seems to run a benign course.  Defining those symptoms is endo domain and probably is variable depending who you ask.  One reference paper stated FHH may increase pancreatitis 36% as opposed to 2 to 7% in general population, presumably because of increased risk of gallstones.  He definitely said does not cause brain fog or memory problems and maybe worth seeing a psychiatrist, maybe he meant counselling as it was pretty obvious I was not over the moon at being spared surgery.  I know I am not thinking as clearly, words dance around the edges when I need them, or the what was I saying as I lose the drift.  I know FHH and PHPT can exist together and I think it may be another facet of this that they have yet to recognise fully rather than very rare one offs.  I have so many questions that I need answers to.  I know there are genetic variants that all appear to produce the same outcome but there seems to be disparities in say for instance how much calcium is actually passed, does this make a difference in symptoms if someone only passes say 50 mg of calcium as opposed to another who passes over 100mg but both have FHH?  I too wonder if it is more common than it appears.  I know you are right Amanda and I will feel better with time, just feel so guilty if I have passed this on.  Just been in conversation with my other brother and informing him to get checked as he has children as well. I don't think they have all the puzzle pieces yet either.  I can understand your concern if you are losing bone density in your spine, does lack of eostrogen still have an effect on bones with FHH as it can do in others?  I think I will start a list of questions and hope when I get my fifteen minute slot with the endo I can pitch them all in, will have to practise my Mastermind voice and fire away!
Hugs again, Sue x
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Re: The FHH chair is now a bench

Post by Little Audrey on Thu Mar 12, 2015 7:26 pm

Well, it certainly sounds like FHH and pHPT can coexist. If this seems to be the case with the 2 of you, Amanda and Sue, I'm sure it must happen to many others! I think you are right Sue, in saying that this seems to be a rather new issue, and doctors just don't really have the answers yet. Heck, most of they can't even grasp HPT alone!

As far as passing it along, Sue, I guess there are many other negative issues we all pass along to our children. The only way to prevent that from happening is to stop reproducing altogether, and that wouldn't work either. Hopefully, soon doctors will have some idea what they are dealing with when it comes to HPT and FHH, and by the time other family members have to deal with it, there will be adequate help and understanding.

Stay strong!

Audrey

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Re: The FHH chair is now a bench

Post by pilipala on Thu Mar 12, 2015 10:48 pm

Dear Sue,

I'm so sorry you too have to deal with the FHH card. Not because it makes one shred of difference to your obvious symptoms but because it gives the doctors yet another excuse not to sort them out. It's shameful, they should be working harder to help you.

Genetic testing is such a recent thing and it is still expensive and therefore only a few hundred people are tested each year. So there simply isn't enough data to say that FHH patients can't have pHPT. Amanda is living proof that you can. It's perfectly possible that with more testing we'll discover that particular genetic differences don't cause assymptomatic high Ca from birth but do increase the chances of having a parathyroid adenoma develop. All testing can say at the moment is that your code isn't the same as everyone else's, it can't say how or even if that will make any difference to your health. It certainly isn't the black and white picture doctors like to present.

For all I know I might be genetically predisposed to having low Ca which is why my pHPT is normocalcaemic. 

I realise this doesn't change anything, and I totally sympathise with the local failing NHS situation. I'm now on a waiting list for the one and only bone specialist in the authority, so at least a six month wait. I've been turfed off the 2yr Gyne list to make their figures look less disasterous. I didn't want it anyway, but the over zealous trainee GP referred me last summer.

Have you considered contacting Dr Norman? He's probably the only Dr who's unlikely to worry abour the FHH results?

Thinking of you,

Love
Dee
xxxxx

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Re: The FHH chair is now a bench

Post by Lucycatnaps on Sat Mar 14, 2015 12:58 pm

Hi Dee,
Thanks so much for your thoughts and I am in total aggreeance with them.  I have the genetic report and am doing some albeit slow research into the meaning of many of the terms.  It states my heterozygous mutation is a novel one, so it does not exist in their database.  It appears similar to others and therefore is likely to be pathogenic.  I agree that all this genetic testing is in its infancy and there will be assumptions made that may not be true. Sadly FHH is a rare disease and therefore will not attract sufficient interest to be fully explored.  They say FHH runs in families but clearly it does not in mine.  I wonder if there are degrees of FHH according to each mutation and degrees of symptoms as in PHPT where there seems to be vast variations from a classic picture both in test results and symptoms.  I am not a malingerer and I find it hard when medics discount your symptoms as nothing or the "must be something else". I feel a little aggrieved  in the fact that I cannot even get a scan of my neck lump which is still present and when I finally see my endo this is a point I will push for and I will print out all the papers stating that PHPT and FHH can co-exist. I find it so hard at the moment to get motivated about anything, just lack of energy and trying to study anything, just makes what is left of my brain hurt!  Having said all that, even  if it was PHPT, technically I do not meet the criteria anyway and so I know that many others are denied surgery as well.  I had considered Tampa, and prior to being told I am unique I had started a nest egg fund, but it is what it is and I would probably be another failed surgery.  It is a bitter pill to swallow but life is not fair.  I really hope that you do find a way forward to successful treatment and maybe developments over time will make it easier to diagnose.  I think of how many must have suffered in the past prior to blood testing for calcium etc and presented with severe disease.  I still am not sure which causes most of the symptoms, is it the PTH or the calcium??  I have read that Biotin can lower PTH and I wonder if that would help me feel better?  Other thoughts are if I have had this all my life, then why am I getting symptoms now? I clearly remember that in Nov 05 I had severe flitting joint pains that they said was possibly RA and gout in my big toe, later discounted and that was the start of it. Sorry, starting to waffle, I have never been good at just accepting something unless I know the hows and whys. Hope you have a lovely weekend and thank you again, you had the kindness to state what doctors will not, although I understand their reticence.
Hugs back, Sue x
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Re: The FHH chair is now a bench

Post by Tigerlily on Mon Mar 16, 2015 6:28 pm

I'm a bit late into this string, Sue, but wanted to add my love and hugs to you, and some tears for Scamp.

It's a real knock-back when these things happen, but I'm with you and Amanda in thinking that the two things PTH and FHH can co-exist - and of course there are false positive results in the FHH testing as in other tests. I know it doesn't help much though.

With your local situation and if I had to wait so long to see the endo again, I might get myself over to Dr Miles Levy in Leicester. You could ask to be referred over there to the Leicester Royal on the NHS for a second opinion, or you could pay £250 for an hour of his time at Spire Leicester which would at least give you access to someone who could answer your immediate questions in the meantime.

I know I am always suggesting paying for a private consult, and it probably gets on some nerves because we really shouldn't have to pay for information (it gets on my nerves, too, believe me!), but it does sometimes pay (!) to try and short-circuit the (sadly failing) system in order to get some answers. Just a thought, anyway.

Meantime, I wish you sunny days and Spring blossom to lift your spirits, Sue.

Love and warmest hugs from Tigerlily xxxx

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Re: The FHH chair is now a bench

Post by Lucycatnaps on Wed Mar 18, 2015 12:29 pm

Thank you Tigerlily,
  I had a phone call from my endo yesterday saying he had got my message re being diagnosed for FHH and this beggars belief but his first statement was seeing as you have been told you have FHH why do you need to see me?  I felt put on the spot a bit, am full of yet another stinking cold probably collected in Hammersmith but explained I have many many questions and laid out as many as I could think of.  I did say about PHPT and FHH co-existing and he said that is very rare.  I want to know why does my D plummet when I stop the supplements, what effect will this have on my children especially if they decided to start a family?  Do they need testing and if so how do we arrange it? and so on.  Why if FHH causes no or few symptoms do I feel so tired and achy?  Is it my thyroid? He refused me a trial of T3 before.  He is very pleasant but young and he then said he will see me in clinic on 16th April.  I will be prepared so I hope he does his homework and doesn't just spout what I have already read.  I know as far as he is concerned it is just tying up loose ends and off you go.  If I get nowhere then I will go private.  I haven't been told even if I should have annual monitoring  and Ohhhh by the way, I still have this neck lump that no-one is interested in and it is visible.
Have to go, other half wanting lunch!
Take care and good luck with your endeavours too!
Hugs Sue x
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Re: The FHH chair is now a bench

Post by Tigerlily on Wed Mar 18, 2015 1:04 pm

Hi Sue
Sorry to hear you were on the back foot a bit when you had to speak to the endo - I do hate that, I always forget something (if not most of it ...)!

Your comment about your Vit D plummeting when you don't supplement rings bells with me as the same thing happens to me. It might be an isolated "quirk" but funny we should both have that.

 There's something else at the back of my mind though - have you ever looked into Neurofibromatosis, which I think is aka Von Recklingshausens. This keeps coming up for me in view of the numerous cysts and lumps and bumps that I have, and I've also come across a number of mentions of sphenoid wing dysplasia in connection with it. It might pay you to do a bit of research into it in view of your neck lump.

I'm filing my stuff today, so I'll send you a couple of links to the papers I'm looking at in my case.

A nice mild sunny day here, so I'll do it in the conservatory!

Back soon, Love Tigerlily x

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Re: The FHH chair is now a bench

Post by pilipala on Wed Mar 18, 2015 3:26 pm

Hi Sue,

I too, am really sorry you had to defend yourself against the local endiot. It's especially not fair when we have brain fog and memory issues.

The vitamin D plummeting issue is one of your easier questions but still one I'd ask to test their knowledge. In case anyone here is wondering - one of the roles of PTH is to convert Calcidiol (25(OH)D) in the kidneys into Calcitriol (1-25(OH)D) - the active form of vitamin D. Calcidiol is the type of vitamin D they measure in the standard blood test because it's more stable having a half life of 6months. It's a good indication of your vitamin D status but, here's the thing, only in people with healthy parathyroids. They gradually convert it over the winter months and their levels smoothly decrease (though typically not into deficiency) before they replenish their stores over the summer. We're only talking about a seasonal difference of maybe 20nmol/L

If you have high PTH it will cause your kidneys to quickly convert this stable form of vitamin D into calcitriol (the active form) which only lasts a few weeks so you run out.

Therefore hyperparathyroid patients have an increased vitamin D metabolism. In tests they have been shown to have low 25(OH)D and high 1-25(OH)D levels. 

We often talk about pHPT patients having low vitamin D but it's not the same as patients who have a low intake or absorption problems in the gut. We can, and do, absorb it we just use it up very quickly.

However I have yet to meet a doctor with the level of scientific knowledge needed to answer this question correctly - despite the fact the biochemistry involved is really trivial.Mad

You can probably tell after my thesis in PTH studies I've been doing a lot of research into vitamin D.

Hope others find it as interesting as I do.

Sue, I'd jump on the fact that the endiot said FHH and pHPT co-existing is rare and I'd say since it isn't impossible you need it to be ruled out e.g. Scans, monitoring, second opinion referrals to more experienced consultants etc. Good luck for the appt and let us know if we can help with gathering ammunition for you.

Hugs,

Dee
xxxxx


Last edited by pilipala on Wed Mar 18, 2015 4:28 pm; edited 1 time in total (Reason for editing : Spelling!)

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Re: The FHH chair is now a bench

Post by pilipala on Wed Mar 18, 2015 3:36 pm

P.s. This link has some helpful diagrams which might be clearer than my waffles

http://www.orthobullets.com/basic-science/9091/pth-and-vit-d-physiology

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Re: The FHH chair is now a bench

Post by Admin on Wed Mar 18, 2015 6:35 pm

On the subject of T3, you may want to show this to your end idiot:

http://www.tiredthyroid.com/blog/2014/08/07/why-t4-only-treatments-do-not-work-why-we-cant-dose-by-tsh-and-why-we-need-t3/?subscribe=success#blog_subscription-3

There has also been a deeply technical paper just published along similar lines. One of the contributors was a doc who was part of the team that wrote the original British Thyroid guidelines published in 2006 and he wrote in 2012 that they got it wrong over combined T4 and T3 therapy.

Edwin
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Re: The FHH chair is now a bench

Post by Tigerlily on Wed Mar 18, 2015 6:57 pm

That's a really good article, Edwin - and also the article "A fast heart rate occurs when hypothyroid or hyperthyroid". I had an abnormal ECG recently (sinus tachycardia) which was repeated and abnormal again, but it looks as if all my thyroid hormones have gone awry since surgery which might be causing the tachycardia according to that article.

My thanks once again for your superlative research!

Tigerlily x

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Re: The FHH chair is now a bench

Post by Admin on Wed Mar 18, 2015 9:20 pm

One of our challenges with thyroid stuff and docs is that they are only taught about the potential problems of over-medication. Worse is that they are taught to use low TSH as an indicator of over-medication, which isn't necessarily true.
What most docs and endos do not seem to know is that low thyroid hormone levels causes more serious problems than high levels.

Edwin
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