New diagnosis!!

So I went to see my cardiologist on 5th.  Saw a lady who was taking his clinic while he was away and she was amazing!! She explained everything they found in my echo step by step!!  So my diagnosis is cardiomyopathy but I don't know how bad as yet.  I have to have a stress test and an MRI to see how much of a risk I am of sudden death. I think maybe I am somewhat of a risk as I have the fainting and dizzy spells and the shortness of breath.
The increased velocity in the left ventricle outflow tract to which my horrible rheumy said "I doubt this is of any significance" is caused by the thickening of the heart muscle making the outflow tract narrower and so the blood is being squirted out like a hosepipe when you put your thumb over the end!! This is causing me all kinds of problems at the moment.  Discovered there is a 50% chance I have inherited it too!  I don't think this is related to EDS at all...

Wow a lot has happened since my last blog! I went to the University College London Hospital to see Prof G's team.  I saw a lovely doctor who's name I forget now!!  She went through a very thorough questionnaire with me and examined me. I was in there for about 30 minutes or so.  At the end of the examination she finished writing her notes and told me that I now have an official diagnosis of EDS type 3, she is writing to my doctor to get her to refer me to podiatry, hydrotherapy, occupational therapy and best of all PAIN CLINIC!!!! I will need physio on my back too because I have lordosis and the pain is quite intense with it.  I am so relieved to have a diagnosis and more so a plan of action to help me!! I could not be happier!! Well I could but this is as close as it gets lol.

I am also now on ESA.  I have a huge form from ATOS to fill in and maybe an assessment in the future. I don't understand all these groups and things but I am sure I will get the hang of it lol.  DLA next...

Autumn is here!

So it has been raining non stop since last night!! Had to get a cab to the school with the kids as I was in far too much pain and very stiff. Walking was a bit of a challenge!! The cabs, of course, were all busy with the weather being crap so the kids were late for school AGAIN!! oops!

When I got back home I noticed my hands were a lovely assortment of colours. Sort of grey fingers, purple around the knuckles and backs of hands with orange splodges!! They hurt too!!  Time to buy some gloves then!

I need to get Haydie sorted with a special needs buggy too! The buggy we have is very old now but the worst thing is the rain cover is too small.  Poor Haydie gets soaked when it rains. I think this is a good thing to ask the family fund for...

The results are in...

I received the results of my heart echo today.  The letter was a bit snotty from the rheumy!! It says I have an increase in velocity at LVOT, which she doesn't think will cause me any problems, but then she goes on to say she doesn't even know why they did the echo on me in the first place! She was the one who said she would not prescribe me any Amitriptyline until I had one!! Plus the doctor in the hospital said it would be a good idea as I keep fainting, which she knew about! I really think she couldn't be bothered from the start! I mean, when I went to see her for my first appointment she wiggled my fingers, made me bend over, poked my fibro pressure points then asked me questions and from THAT she deduced that I didn't have arthritis in my knees, I was hypermobile but that wasn't painful (yeah ok) and all my problems were the fibro!! Thankfully I saw a different rheumy for my follow up.  He read her notes, looked puzzled and gave me a full examination.  He said the joint pain I felt on using them was the hypermobility syndrome, the pain and stiffness in other places was fibro and I do have osteoarthritis in my knees! He wrote a proper diagnosis letter to my GP too.

This was a bit of a rant but so many people have gone through this kind of thing and it is so wrong!! x

Referral to UCHL!!

So after making a private appointment to see Professor Grahame in London (for £300 I might add!) I got a letter in the post saying that my GP had referred me to his team and the University College Hospital London!!  I was flabbergasted considering the GP said they probably wouldn't fund something like that when I asked her! The most amusing thing about it though is that my appointment is on the same day as the private I made!!!  Good job seeing as I had already booked the tickets and planned to go with a friend!! Talk about a stroke of luck!!  Well that saves me £300!! lol

I will be seeing Dr Kazkaz.  I have done a little reading on HMS and EDS forums and people seem to have good things to say about her. I am quite excited about this little trip now!

Calum is a Zebra!!!

So it is official... Calum has EDS too.  I have to take him for genetic testing to check which type but as I am type 3 I guess he is too.  He has been passing out a lot lately and the doc diagnosed postural hypotension. My son is so much like me! lol.  If I could afford it I would take Calum to see Prof Grahame with me but he will have to wait a while.

Calum and his bendyness...

Will post more another time x

Summer and her feet!

I took summer to the doctors about 2 years ago because she is walking on her toes.  She was seen 6 months later in Alder hey by a specialist.  We have moved house and everything since that appointment and I found out 2 weeks ago that her specialist left the hospital to go work somewhere else and left all his patients without follow ups!!! Anyway she has another appointment for next week now :)  Time to see if she has managed to loosen her own muscles and tendons or if they want to put her legs in plaster for 6 months!! Summer, being her strange little self, wants her legs plastered!! lol.  I think she wants a wheelchair!! I told her she still has to go to school... that stopped her grinning lol.

She has had a lot of aches and pain in her legs and knees lately too.... about the same age mine started.  I hope this isn't going where it looks like it is going! She is pretty hypermobile...

Where I am up to as a zebra...

So I got a written diagnosis of Hypermobility, osteoarthritis and fibromyalgia and a verbal one of EDS as the docs are too scared to actually diagnose EDS at the moment!! I am however going to see the UK number 1 doc for EDS in London next month!!  It is costing me £300 but if that means I get proper care then I am willing to pay!! The physio I am getting is useless, the meds I am taking are useless too and I have now lost my job through illness. Hopefully it will all change after October.

One good thing though, I have been seen by my cardiologist a few times and he has booked me in for a tilt table test to see why I keep fainting. I should get some tips to prevent it then and be able to stay in work more than a week!! After that I am back to neuro for a follow up.  Things are getting done, I am pleased :)

As for pain relief, I am up to 50mg of Amitriptyline right now.  I am still not convinced that an antidepressant is going to do the trick no matter how much they tell me it helps nerve pain!! But seeing as I can't take anything else except paracetemol (down to hiatus hernia or over sensitivity to drugs!) I will have to try it until my pain clinic referral comes through! I am due to go back in 2 weeks for a medication check up and maybe they will up it a bit more.  It's doing nothing for pain right now.

Letter from the Rheumy...

I have to correct the doctor on this letter... he states I score 6/9 on the beighton scale... well I have my right wrist in a splint so obviously I couldn't show him that day!! I score a 7!


This is what I was wearing...

lol.  That's all for now x

UPDATE!!

Deary me I don't seem to be managing to keep this blog updated much do I??!!

Anyway, since my last post about Haydie getting his diagnosis, the LEA gave us funding for him to attend a private nursery for 3 mornings a week for a little bit of early intervention.  He turned 3 in July so now he gets these mornings free anyway. He wasn't doing too well in the toddler room... it was too cramped for him and other kids were getting too close.  He was ok outside but spent most of his time stimming so they made him a little place of his own in a cupboard in the corner.  He had his numbers and some sensory toys in there and could go in there whenever he felt overwhelmed.  Now he is in the pre school room he is much more settled!  The room is huge and not as cramped.  He has 1 to 1 support in there too and they are preparing a report for when he (hopefully) gets to go to the same special school his older brother went to!! Amazing school by the way!

So today my gorgeous little Haydie can repeat some words we say... he has immediate and delayed echolalia.  He doesn't know what the words he is saying mean though. He still cannot communicate his needs to us but I think we are coming along with the PECS, albeit slowly. He isn't sleeping well so we have started sleep clinic.... hopefully we can train him before they start talking about meds.  I think his lack of sleep is what is causing him to self harm... he gets so frustrated with not being able to talk and coupled with being over tired he just lashes out at himself.  It is hard to see him bashing his head on the floor, hitting himself and pulling his own hair out.

Tyler, who is less severely autistic than Haydie, has just started his new special school this September.  So far he loves it! They are very impressed with his maths skills and his artistic ability. May have a savant here lol.  The only problem I have so far is trying to get Tyler to understand that Haydie is autistic too and he can't talk to him the way he does.  He doesn't understand that he can't shout at Haydie for getting in his way or touching something he shouldn't.  I think I will have to get some social stories ready for him and see how we go...

Thats it for now....

Diagnosis at last!

Well the day we have been waiting for for so long came and went! A week ago my partner and I sat in the family room with Haydie  whilst the 3 professionals observed him and did their tests. It didn't take long for the diagnosis of autism.  It was very obvious to everyone. Now we start the courses, the appointments, the school choices...