I finally got a diagnosis.

[Roverlord off road spares]

After deteriorating health over the past few years and having numerous specialists look at me and feeling like a hypochondriac some times as no one could come up with what I have, I finally have an answer.
Thanks to my new Gp who was getting worried about my presentation changing, taking longer to getup and walk to his consultation room every visit he sent me for a Parkinson's check up with a neurologist who specialists in brain disorders and diseases. I have been Diagnosed with MSA ( under the Parkinson's umbrella) This disease is fatal and has no cure, but I can accept that, at least I now know what I have and can try to come to terms with it.

Will start medications soon after some more tests and hopefully my quality of life may improve. I'm sick of sitting down and lying down all the time due to dizziness and falls risk.
The biggest issue I have is the unbelievable Pain from Cramping muscles in my back and stomach area when I stand for 5mins and lean forward to butter some toast or shower toilet etc. the meds ones sorted should ease this hopefully. Heather has to help me dress and put me to bed, dry me after a shower ,unfortunately I'm gaining weight all the time due to lack of exercise so I worry she will hurt herself. One in bed I find it hard to move so she moves me about.

Got a bit of a road ahead, but such is life. just felt I would explain why I haven't participated here for a while.
Cheers, Mario

[p38arover]

Jeez, sorry to hear that Mario.

I hope the new meds at least alleviate the symptoms.

[Rolly]

What dreadful news, my thoughts and prayers go to you.

[rick130]

That really sucks Mario.

Dad had Parkinson's, a different strain to yours and the meds were quite effective.
They kept the severity of the symptoms at bay for 25 years but he did used to joke he rattled with the number of meds he was on!

Hopefully once they fine tune your regime it gives you quite a bit of relief.

[Old Farang]

Got a bit of a road ahead, but such is life. just felt I would explain why I havent participated here for a while.
Cheers, Mario
Jeez, that's terrible. Just the last few days I have been going to post and ask how you were going, but could not decide where to post.

Hopefully the Meds will give you some relief from pain, and even though it is not a good prognosis, at least knowing what it is should be a load off your mind.

Best regards to you both. Kevin

[DiscoMick]

Sorry to hear that mate, but don't despair. My mother in law lasted 14.years after being diagnosed. She was bright until the end.

[rar110]

That’s terrible news Mario, but some relief in getting a diagnosis and the opportunity for treatment and improved quality of life.

I hope the treatment is fast and effective.

[Roverlord off road spares]

Thanks All.
I.m getting a 24 hr blood pressure monitor fitted on Friday. The constant feeling faint from very low blood pressure is driving me crazy. It's really scary when you start getting the head rush and the my muscles give way and the heavy body feeling comes and I'm going to crash again . Every time it happens I think is this the end coming. Also will have to see a cardiologist and get some type of scans done.
Couldn't come at the worst time, IT'S FISHING SEASON.

[V8Ian]

My thoughts are with you and Heather, Mario. With the exponential expansion of medical knowledge, who knows what the future holds.
Please let me know if I or the forum community can be of any ​assistance.

[4bee]

We haven't "met" as such Mario, but I have read your Health Posts over the last year or so.

Sorry to hear this with anyone, but as my olde Sparky would say if he wasn't a Cot Case himself after falling foul of some mysterious Hong Kong Ailment on his very first OS trip. :o( is, "What can you do?" as he shrugs his shoulders. His working life is buggered.

Chances are & with a bit of luck, your diagnosis may be incorrect. Has been known to happen before & well publicised.

How many other opinions have you had? Me, I'd be getting a couple more. It might be the same result but at least you have chased it to its conclusion.

In the meantime keep your chin up & I will hope for the best for you.

[BathurstTom]

Mario, I pray that the diagnosis is of great benefit to you. Hopefully they can tailor specific treatment for you to give you a greatly improved life style. I have followed your postings about your health and quite frankly I haven't known what to say as it was all sounding very negative. I will pray that the treatment is effective and that it gives you more time than what you would have had without the treatment. Hopefully you will still have many years of good living (and good fishing). I would be happy to bring my little tinny down and take you out when you are up to it. Let me know!

Prayers and good wishes,
Tom.

[Blknight.aus]

Nuts

Youve got my number, email, PM,DM and I think every other method of contact known to man, if you or heather need anything, any time, make sure you use one of them. I'm not too far round the corner.

[theelms66]

Jeeezz. Don't know what you've done to pee off the bloke upstairs , looks like he is lashing out on you. Hope you get back in your boat soon. [emoji274][emoji274]

[Blknight.aus]

side thought....

it might be worth consulting a physio or similar to see if you might be able to take advantage of some tens style electrically simulated exercise for your muscles, it might be enough to help keep the weight gain down if your meds and pain tolerance will allow it.

Oh, and while I cant fish worth a damn, I can carry stuff, push a wheel chair and bait hooks. Let me know when you want to do a fishing day and I'll make it available.

[DiscoMick]

My mother in law also had low blood pressure but with some experimenting her doctor was able to get her medication right and control her blood pressure.

[NavyDiver]

Bugger and great Mario.

Knowing must be a relief as not is PITA. Feeling your pain about fishing. mates sending my pics of big Dhufish and local snapper are making my wish my current crutches rust[biggrin] Even thinking of GASP- a charter

[Roverlord off road spares]

My mother in law also had low blood pressure but with some experimenting her doctor was able to get her medication right and control her blood pressure.

My BP is fine whilst I sit or lay down, but movement is the problem, its orthostatic hypertension that's the problem. If I get up and dont pump my legs a bit before to pump blood back to the head then the blood leaves the brain, causing my muscles to collapse and hence the falls , so meds to raise BP will increase the BP whilst resting , so they need to tweak it after some tests are done.

[Roverlord off road spares]

[QUOTE=BathurstTom;2949426. I would be happy to bring my little tinny down and take you out when you are up to it. Let me know!

Prayers and good wishes,
Tom.[/QUOTE]
Tom, your a saint.
Fishing for me is a down the track at the moment, It takes some times two people to get me out of a car or up off a chair, when my muscles go weak I dont have the strength to lift my leg or to drag myself with my arms, my legs sometimes stop working so I would only be a beached whale. I ring and annoy my mates all the time and ask how they are going out on their boats, and have a fishing FB page , so that's the gfor me at the moment.
I attend Old Peoples Exercise classes every week and have progressed to lifting 1 kg dumb bells to chest height. The young Instructor loves fishing so I got into his ear about getting me up to strength to go fishing.
My doctor has been told if he wants to go fishing with me so I can teach his kids he needs to get me well enough, he said one day I'll be able to go. He also promised me I 'm not going to die whilst on his shift so that's reassuring.

[Fattima]

Sorry to hear this news Mario. Hopefully the meds can restore some quality of life for you.
I'm in Melbourne and if you need anything just give a yell.

[DiscoMick]

Exercise is good. Use it or lose it.
I can recommend water aerobics as a safe way of moving and pushing against the water is the useful exercise. Lots of people with mobility issues do it as a safe, non damaging exercise. Plus you get a swim, which is nice in a warm pool in winter.

[Roverlord off road spares]

Exercise is good. Use it or lose it.
I can recommend water aerobics as a safe way of moving and pushing against the water is the useful exercise. Lots of people with mobility issues do it as a safe, non damaging exercise. Plus you get a swim, which is nice in a warm pool in winter.

Mick water at the moment is no for me with Bladder problems, I was due to start an intensive 10 week pain management sessions 3 hrs a day twice a week , the last consultation I didn't resent well. They phoned me a few days before the start date to say they had called it off. They didn't think I would be able to handle the 3 hour sessions, so left it for again for review until next Jan.

[BathurstTom]

Tom, your a saint.
Fishing for me is a down the track at the moment, It takes some times two people to get me out of a car or up off a chair, when my muscles go weak I dont have the strength to lift my leg or to drag myself with my arms, my legs sometimes stop working so I would only be a beached whale. I ring and annoy my mates all the time and ask how they are going out on their boats, and have a fishing FB page , so that's the gfor me at the moment.
I attend Old Peoples Exercise classes every week and have progressed to lifting 1 kg dumb bells to chest height. The young Instructor loves fishing so I got into his ear about getting me up to strength to go fishing.
My doctor has been told if he wants to go fishing with me so I can teach his kids he needs to get me well enough, he said one day I'll be able to go. He also promised me I 'm not going to die whilst on his shift so that's reassuring.
Well when you are well enough, let Dave (blknight)and I know and I will make the trip down and WE WILL take you fishing. I have a 14' 6" aluminium runabout, but if you are in a wheel chair we may need something bigger. I have a NSW boating license, which I assume is ok for VIC? Anyway, let us know and we will make it happen.

Chin up mate, as Dave said, we're only a phone call away. We might not have the magic answer, but we can talk...


Tom.

P.S 0413 976 143 if you want or need to speak

[Roverlord off road spares]

Well when you are well enough, let Dave (blknight)and I know and I will make the trip down and WE WILL take you fishing. I have a 14' 6" aluminium runabout, but if you are in a wheel chair we may need something bigger. I have a NSW boating license, which I assume is ok for VIC? Anyway, let us know and we will make it happen.

Chin up mate, as Dave said, we're only a phone call away. We might not have the magic answer, but we can talk...


Tom.

P.S 0413 976 143 if you want or need to speak

Hi Tom, no need to tow yours I have my 18 footer sitting idle in the driveway.
Cheers, Mario

[NavyDiver]

Mick water at the moment is no for me with Bladder problems, I was due to start an intensive 10 week pain management sessions 3 hrs a day twice a week , the last consultation I didn't resent well. They phoned me a few days before the start date to say they had called it off. They didn't think I would be able to handle the 3 hour sessions, so left it for again for review until next Jan.

Micks on the money Mario. Moving helps everything. An exercise physiologist or physio can help. Ask your Doctor re a Care plan (MBS Items 721 723) almost certain your now eligible for those. They can help pay for a exercise physiologist or physio to help you keep moving and even get stronger.
155476

Not trying to be Arnie[thumbsupbig]. Was in a rehab hospital for a month. the Fitter 90 year olds got home a lot faster than the couch potatoes 60 year olds honest even with the same knee replacements

[Blknight.aus]

My BP is fine whilst I sit or lay down, but movement is the problem, its orthostatic hypertension that's the problem. If I get up and dont pump my legs a bit before to pump blood back to the head then the blood leaves the brain, causing my muscles to collapse and hence the falls , so meds to raise BP will increase the BP whilst resting , so they need to tweak it after some tests are done.


Tom, your a saint.
Fishing for me is a down the track at the moment, It takes some times two people to get me out of a car or up off a chair, when my muscles go weak I dont have the strength to lift my leg or to drag myself with my arms, my legs sometimes stop working so I would only be a beached whale. I ring and annoy my mates all the time and ask how they are going out on their boats, and have a fishing FB page , so that's the gfor me at the moment.
I attend Old Peoples Exercise classes every week and have progressed to lifting 1 kg dumb bells to chest height. The young Instructor loves fishing so I got into his ear about getting me up to strength to go fishing.
My doctor has been told if he wants to go fishing with me so I can teach his kids he needs to get me well enough, he said one day I'll be able to go. He also promised me I 'm not going to die whilst on his shift so that's reassuring.

2 words Mario,

Challenge accepted.

It only takes a week to co-ord an axle replacement over 3 states and 1100ish Km. Less than half a day to co-ord an engine pull and strip.

Arkies pretty wheel chair friendly, Im no slouch in the muscles department. Bet I can find a beach I can get you onto, get some ground plates to put the chair on for you or a jetty to hit...

I'll give even money that theres another member or 3 in melb somewhere that actually knows fishing, we'll come round I'll have a look at the boat and I'll bet its wheelchair friendly by xmas...

[Phil B]

2 words Mario,

Challenge accepted.

It only takes a week to co-ord an axle replacement over 3 states and 1100ish Km. Less than half a day to co-ord an engine pull and strip.

Arkies pretty wheel chair friendly, Im no slouch in the muscles department. Bet I can find a beach I can get you onto, get some ground plates to put the chair on for you or a jetty to hit...

I'll give even money that theres another member or 3 in melb somewhere that actually knows fishing, we'll come round I'll have a look at the boat and I'll bet its wheelchair friendly by xmas...

You are a good man BK.

[Roverlord off road spares]

Micks on the money Mario. Moving helps everything. An exercise physiologist or physio can help. Ask your Doctor re a Care plan (MBS Items 721 723) almost certain your now eligible for those. They can help pay for a exercise physiologist or physio to help you keep moving and even get stronger.
155476

Not trying to be Arnie[thumbsupbig]. Was in a rehab hospital for a month. the Fitter 90 year olds got home a lot faster than the couch potatoes 60 year olds honest even with the same knee replacements

I.m still under the Eastern Health care so am sure there's more help avail just the red tape and times. My doc did the NDIS application forms yesterday, my illness is on the ndis prefered list of illnesses, so this time they might not knock me back???? just need to get an updated OT report to send with it.

[Roverlord off road spares]

2 words Mario,

Challenge accepted.

It only takes a week to co-ord an axle replacement over 3 states and 1100ish Km. Less than half a day to co-ord an engine pull and strip.

Arkies pretty wheel chair friendly, Im no slouch in the muscles department. Bet I can find a beach I can get you onto, get some ground plates to put the chair on for you or a jetty to hit...

I'll give even money that theres another member or 3 in melb somewhere that actually knows fishing, we'll come round I'll have a look at the boat and I'll bet its wheelchair friendly by xmas...

LOL Dave, I'm not in a chair yet, let me take one step at a time, fishing is a while offf yet. [biggrin]

[Fattima]

Mario, the NDIS can be a minefield to negotiate. A friend of mine got a very good outcome for her disabled son but it took a lot of knowledge of the system and knowing who to talk to. She may be able to offer some advice if you need it.
Cheers
Bruce

[Roverlord off road spares]

Started my Medication called Kinson , ( used to treat Parkinsons) I have Already noticed a bit of improvement in muscle movement and my walking, the pain has also lessened.

[DiscoMick]

That's good. May take some time to show results.
Pity you can't do the water aerobics as it is ideal gentle movement exercise.

[Roverlord off road spares]

I'm not coping very well with this disease! I had a doppler scan done on the carotid arteries and a ecogardiogram done to make sure my vitals are getting sufficient blood, results were good. My Doctor has doubled the dosage of kinson tabets. I'm still at the tweaking of meds, but the body is slowing down further. I walked 10 paces inside the house aided by Heather on Wednesday to get to the Lounge chair and I passed out and went down like a ton of bricks and hit the floor with my head, then Heather and my son had a job to get me off the floor as I was a dead weight. With a bit of a head ache and sore knees I'm was ok. I have been Vegetating lying on the bed or sitting mostly as any attempt to walk brings on the feeling of falling again due to hydrostatic blood pressure and standing for more than a couple of minutes starts the excruciating muscle cramps

Yesterday i spent many hrs off and on lying down, I had a regular customer call around after hrs to pick up a part, I got up and sat on the end of my bed to talk to him , Heather was thee in the room when all of a sudden I fell back wards onto the bed and was unconscious. I was out for about 3 mins, then became semi conscious Heather said my eyes were lazy and half open and i was muttering. I noticed the customer was holding my legs up trying to help Heather get me onto the bed properly.
My NDIS application which I have applied for only gives 28 days to submit but getting additional evidence reports however is difficult in the time frame, I was told by one there was a 26 week wait but they could prioritise me to 12 weeks. NDIA can allow extensions which I did apply, I tried to get a 3rd extension and was told I rang them 2 days too late and had to re apply. This system is really broke no matter how they make out how good it is for people. I now have an appointment 6th Dec with some one to assess me with capacity reports etc.
I got really depressed as trying to deal with this horrid disease and have to comply with the system is taking its toll , I tried to see my old Pysch but she was booked out. thought of ringing life line, but some how I got through the days.

My doctor says not to dwell on my illness , but it effects me 24/7 the symptoms are there reminding me all the time. I have been researching and all says there is no cure, my Doc says not to Dr Google. But its hard not too. Thinking there might be something out there, I have many unfinished projects around the home and dont want to leave Heather with them, I just hope My condition can improve to give me some time to finish stuff.
i even looked at my life insurance policy, re terminal illnesses, clause says got to die in within a year and if they believe it will happen with in that time. Then next thing is to get our wills updated.
One thing I noticed is when you are really ill people you thought were your friends seem to avoid you. It must be the thing about them being uncomfortable about being near serious illness.
Sorry for this long winded post, I'm not after sympathy, I just needed to Ventilate.

[edddo]

Gday Mario,

Tough times indeed.
I have a bit to do with the NDIS - have helped a few people get applications in with some success.
Dont worry too much about deadlines for submission etc - if something expires it just means that you put in a new access request and go again.
In my experience people are not penalised for this ie it doesnt necessarily result in being put on the end of a waitlist.
I think the important thing is to have very good documentary evidence of your medical conditions ( diagnosis, treatment history, prognosis, whether there is any expectation of improvement - preferably from a specialist rather than a GP) and detailed description of your functional capacity limits across the 6 criteria ( ie 'impairments')...along with equally detailed description of the consequent support needs It has to be worded very much in the language of disability - not medicine.
Do you have access to any local disability advocacy service to help with the process...they are funded to provide this assistance.

Re friends avoiding you..yes it seems a sad truth that the anxiety that some people feel in responding to illness in others is often strong enough for them to lapse into avoidance. I think that is them managing their stress in often a fairly unconcious way. But - I personally think it is pretty pathetic behaviour.

regards

Lindsay

[DiscoMick]

I'm a long way away, but I certainly sympathise and feel for you. Can't offer any wise advice except to treat every day as a bonus and focus on the good stuff. Don't let the NDIS crap upset you, just take it one step at a time. You are fortunate to have Heather - some people are trying to deal with this on their own.

[Blknight.aus]

I have many unfinished projects around the home

I disagree,


Youve got my number, email, PM,DM and I think every other method of contact known to man, if you or heather need anything, any time, make sure you use one of them. I'm not too far round the corner.


My thoughts are with you and Heather, Mario. With the exponential expansion of medical knowledge, who knows what the future holds.
Please let me know if I or the forum community can be of any ​assistance.


Sorry to hear this news Mario. Hopefully the meds can restore some quality of life for you.
I'm in Melbourne and if you need anything just give a yell.


Well when you are well enough, let Dave (blknight)and I know and I will make the trip down and WE WILL take you fishing. I have a 14' 6" aluminium runabout, but if you are in a wheel chair we may need something bigger. I have a NSW boating license, which I assume is ok for VIC? Anyway, let us know and we will make it happen.

Chin up mate, as Dave said, we're only a phone call away. We might not have the magic answer, but we can talk...


Tom.

(number deleted) if you want or need to speak

you have a bunch of willing friends who are waiting to give you a hand.


people you thought were your friends seem to avoid you


and not fairweather friends either

[theelms66]

The problem with Dr google is its always worst case scenario. Mario,the boss is away for a week come Monday so I'm free if you need something /someone or just go out for a drive. Give me a call.

Regards Pas.

[Fattima]

Mario I understand how hard this must be, please do try and see your psych and look after your mental health.
Please let me know if you and Heather need anything.

Cheers
Bruce

[Roverlord off road spares]

HI guys wish us luck we sent all the NDIS paper work and reports on Mario , Via email. We did get an email back saying that they have it.
So it is a waiting game now. Hope it doesn't take to long. Heather

[V8Ian]

Good luck.

[theelms66]

HI guys wish us luck we sent all the NDIS paper work and reports on Mario , Via email. We did get an email back saying that they have it.
So it is a waiting game now. Hope it doesn't take to long. HeatherGive them a couple of weeks then call them up and ask how its progressing. (Noisy wheel gets the oil [emoji106])

[Roverlord off road spares]

Hi Guys sorry I haven't got back to you a bit going on here. The Meds are helping to some degree, early days yet so with take time to get it right. The fludrocortisone is making my dizziness and fainting more manageable, I am now getting the trembles in my hands and swelling in my right arm, . If I can get rid of the painful Cramps then I think My quality of life will improve. On another note, my catheters I have been using went from $3.90 to $7.02 per unit, now that is just a shocking inflation and rip off on something one is dependent on 6 times a day.How do they justify that?
Cheers, Mario

[NavyDiver]

Hi Guys sorry I haven't got back to you a bit going on here. The Meds are helping to some degree, early days yet so with take time to get it right. The fludrocortisone is making my dizziness and fainting more manageable, I am now getting the trembles in my hands and swelling in my right arm, . If I can get rid of the painful Cramps then I think My quality of life will improve. On another note, my catheters I have been using went from $3.90 to $7.02 per unit, now that is just a shocking inflation and rip off on something one is dependent on 6 times a day.How do they justify that?
Cheers, Mario

Hi Mario. pm me your catheters details and or ask your Doctor if wholesale price could be available to you. I do it for a heap of people who see my doctors with a number of products. The internet is also often a way to cut a few costs just ensure its not also a cut in quality of course mate

Cheer James AKA ND

[Tins]

Thoughts are with you, Mario and Heather.

I repeat my offer: If I can help, even with going to the PO, let me know. You know where I live.

[DiscoMick]

HI guys wish us luck we sent all the NDIS paper work and reports on Mario , Via email. We did get an email back saying that they have it.
So it is a waiting game now. Hope it doesn't take to long. HeatherHope you get the best result fast.

[Roverlord off road spares]

Hope you get the best result fast.

I received a call yesterday, It appears I have been accepted to the NDIS and need to organise meeting to do a care plan.

They Urology Dept of the Hospital fitted an 8 week catheter with a shut off valve yesterday. So Financially it's a win, a 8 weeks cath is $8 and the valve about $9 every 10 days, a district nurse will come to do the cath change every 8 weeks. ( and I only just Bought $500 worth of Caths last week grrrrr for the month ahead)

Neurologist appt this morning and doctors tomoz that hopefully will be it until after christmas for me.

[theelms66]

FINALLY. FINALLY. FINALLY. They have listened to you. [emoji106][emoji106]

[DiscoMick]

Excellent news!

[V8Ian]

I received a call yesterday, It appears I have been accepted to the NDIS and need to organise meeting to do a care plan.

They Urology Dept of the Hospital fitted an 8 week catheter with a shut off valve yesterday. So Financially it's a win, a 8 weeks cath is $8 and the valve about $9 every 10 days, a district nurse will come to do the cath change every 8 weeks. ( and I only just Bought $500 worth of Caths last week grrrrr for the month ahead)

Neurologist appt this morning and doctors tomoz that hopefully will be it until after christmas for me.
So your ol' feller now has a cock? [bigwhistle]
All the best with it, mate. [bigsmile1]

[16PMark]

So your ol' feller now has a cock? [bigwhistle]
All the best with it, mate. [bigsmile1]I can't un-read that.....

[Roverlord off road spares]

So your ol' feller now has a cock? [bigwhistle]
All the best with it, mate. [bigsmile1]
on tap[biggrin]

[Roverlord off road spares]

I hear a lot of people have trouble with accessing the NDIS so here is a list of the NDIS so called "approved conditions".
I didn't know there were so many different diseases out there .

I qualified under list B Extrapyramidal and movement disorders Shy-Drager syndrome /Multiple System Atrophy /Striatonigral degeneration (MSA-P)/ Sporadic olivopontocerebellar atrophy (MSA-C)



List A - Conditions which are likely to meet the disability requirements in section 24 of the NDIS Act.



Intellectual disability diagnosed and assessed as moderate, severe or profound in accordance with current DSM criteria (e.g. IQ 55 points or less and severe deficits in adaptive functioning).
Autism diagnosed by a specialist multi-disciplinary team, paediatrician, psychiatrist or clinical psychologist experienced in the assessment of Pervasive Developmental Disorders, and assessed using the current Diagnostic and Statistical Manual of Mental Disorders (DSM-V) diagnostic criteria as having severity of Level 2 (Requiring substantial support) or Level 3 (Requiring very substantial support).
Cerebral palsy diagnosed and assessed as severe (e.g. assessed as Level 3, 4 or 5 on the Gross Motor Function Classification System - GMFCS).
Genetic conditions conditions that consistently result in permanent and severe intellectual and physical impairments:

Angelman syndrome
Coffin-Lowry syndrome in males
Cornelia de Lange syndrome
Cri du Chat syndrome
Edwards syndrome (Trisomy 18 – full form)
Epidermolysis Bullosa (severe forms):

YR
Autosomal recessive dystrophic epidermolysis bullosa
Hallopeau-Siemens type
Herlitz Junctional Epidermolysis Dystrophica


Lesch-Nyhan syndrome
Leigh syndrome
Leukodystrophies:

Alexander disease (infantile and neonatal forms)
Canavan disease
Krabbe disease (globoid cell leukodystrophy) – Infantile form
Pelizaeus-Merzbacher Disease (Connatal form)


Lysosomal storage disorders resulting in severe intellectual and physical impairments:

Gaucher disease Types 2 and 3
Niemann-Pick disease (Types A and C)
Pompe disease
Sandhoff disease (infantile form)
Schindler disease (Type 1)
Tay-Sachs disease (infantile form)


Mucopolysaccharidoses – the following forms:

MPS 1-H (Hurler syndrome)
MPS III (San Fillipo syndrome)
Osteogenesis Imperfecta (severe forms):
Type II - with two or more fractures per year and significant deformities severely limiting ability to perform activities of daily living


Patau syndrome
Rett syndrome
Spinal Muscular Atrophies of the following types:

Werdnig-Hoffmann disease (SMA Type 1- Infantile form)
Dubowitz disease (SMA Type II – Intermediate form)
X-linked spinal muscular atrophy




Spinal cord injury or brain injury resulting in paraplegia, quadriplegia or tetraplegia, or hemiplegia where there is severe or total loss of strength and movement in the affected limbs of the body.
Permanent blindness in both eyes, diagnosed and assessed by an ophthalmologist as follows:

Corrected visual acuity (extent to which an object can be brought into focus) on the Snellen Scale must be less than or equal to 6/60 in both eyes; or
Constriction to within 10 degrees or less of arc of central fixation in the better eye, irrespective of corrected visual acuity (i.e. visual fields are reduced to a measured arc of 10 degrees or less); or
A combination of visual defects resulting in the same degree of visual impairment as that occurring in the above points. (An optometrist report is not sufficient for NDIS purposes.)


Permanent bilateral hearing loss > 90 decibels in the better ear (pure tone average of 500Hz, 1000Hz, 2000Hz and 4000Hz).
Deafblindness confirmed by ophthalmologist and audiologist and assessed as resulting in permanent and severe to total impairment of visual function and hearing.
Amputation or congenital absence of two limbs.


List B - Permanent conditions for which functional capacity are variable and further assessment of functional capacity is generally required.

1.Conditions primarily resulting in Intellectual/ learning impairment



Intellectual disability
Pervasive developmental disorders not meeting severity criteria in List A or List C
Asperger syndrome
Atypical autism
Childhood autism.

Chromosomal abnormalities resulting in permanent impairment and not specified on List A:



Aicardi-Goutières syndrome
CHARGE syndrome
Cockayne syndrome Types I and Type II/Cerebro-oculo-faciao-skeletal (COFS) syndrome /Pena Shokeir syndrome Type II/Weber-Cockayne syndrome/Neill-Dingwall syndrome)
Cohen syndrome
Dandy-Walker syndrome
DiGeorge syndrome /22q11.2 deletion syndrome/Velocardiofacial syndrome/ Shprintzen syndrome/Conotruncal anomaly face syndrome
Down syndrome
Fragile X syndrome
Kabuki syndrome
Menkes disease
Prader-Willi syndrome
Seckel syndrome /microcephalic primordial dwarfism/Harper’s syndrome/Virchow-Seckel dwarfism
Smith-Lemli-Optiz syndrome
Smith-Magenis syndrome
Spinal muscular atrophy Types III and IV
Sturge-Weber syndrome
Trisomy 9
Tuberous sclerosis
Turner syndrome
Williams syndrome
Wolf-Hirschhorn syndrome.

2. Conditions primarily resulting in Neurological impairment



Alzheimer’s dementia
Creutzfeldt-Jakob disease
HIV dementia
Huntington’s disease
Multi-infarct dementia
Parkinson’s disease
Post-polio syndrome
Vascular dementia.

Systemic atrophies primarily affecting the central nervous system:



Abetalipoproteinaemia
Adult-onset spinal muscular atrophy/late-onset SMA type III)
Fazio-Londe disease/Progressive bulbar palsy of childhood
Friedrich’s ataxia
Hereditary spastic paraplegia/ Infantile-onset ascending hereditary spastic paralysis/ L1 syndrome/ spastic paraplegias types 2 and 11Huntington’s disease/Huntington’s chorea
Louis-Bar syndrome/Ataxia-telangiectasia
Motor neuron disease/Motor neurone disease/ Lou Gehrig’s disease /Amyotrophic lateral sclerosis
Primary lateral sclerosis
Progressive bulbar palsy
Spinal muscular atrophy – all types
Spinocerebellar Ataxia – all types, including Machado-Joseph disease.

Extrapyramidal and movement disorders



Hallervorden-Spatz syndrome /Pantothenate kinase-associated neurodegeneration (PKAN)/neurodegeneration with brain iron accumulation 1 (NBIA 1)
Parkinson’s disease
Shy-Drager syndrome /Multiple System Atrophy /Striatonigral degeneration (MSA-P)/ Sporadic olivopontocerebellar atrophy (MSA-C)
Steele-Richardson-Olszewski syndrome/Progressive supranuclear ophthalmoplegia
Stiff-man syndrome /Stiff-person syndrome.

Other degenerative diseases of the nervous system



Alzheimer’s disease
Alpers disease/Grey-matter degeneration/Alpers syndrome/progressive sclerosing poliodystrophy/progressive infantile poliodystrophy
Lewy body dementia
Pick’s disease.

Demyelinating diseases of the central nervous system



Adrenoleukodystrophy
Multiple sclerosis
Schilder’s disease /Diffuse myelinoclastic sclerosis – non-remitting.

Episodic and paroxysmal disorders



Brain stem stroke syndrome
Cerebellar stroke syndrome
Motor and sensory lacunar syndromes
Lennox syndrome /Lennox-Gastaut syndrome
West’s syndrome.

Polyneuropathies and other disorders of the peripheral nervous system



Adult Refsum disease
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy/ peroneal muscular atrophy
Dejerine-Sottas disease /Dejerine-Sottas syndrome/Dejerine-Sottas neuropathy/progressive hypertrophic interstitial polyneuropathy of childhood/onion bulb neuropathy
Infantile Refsum disease.

Other disorders of the nervous system



Hydrocephalus
Multiple system atrophy.

3. Conditions resulting in Physical impairment



Amputations
Congenital absence of limb or part thereof
Epidermolysis bullosa
Harlequin type icthyosis
Juvenile arthritis / Stills Disease (excluding monocyclic/self-limited Adult Onset Stills disease)
Rheumatoid arthritis.

Diseases of myoneural junction and muscle



Andersen-Tawil syndrome/ Periodic paralysis /myoplegia paroxysmalis familiaris
Becker muscular dystrophy
Congenital muscular dystrophy
Distal muscular dystrophy
Duchenne muscular dystrophy
Facioscapulohumeral muscular dystrophy
Limb-girdle muscular dystrophy
Mitochondrial myopathy
Myotonic dystrophy /dystrophia myotonica
Myotonic muscular dystrophy
Myotubular myopathy
Oculopharyngeal muscular dystrophy
Paramyotonia Congenita
Thomsens disease /Congenital myotonia/ Becker myotonia).

Cerebral palsy and other paralytic syndromes not meeting severity criteria on List A



Cerebral palsy
Diplegia
Hemiplegia
Monoplegia
Paraplegia
Quadriplegia
Tetraplegia.

4. Conditions resulting in Sensory and/or Speech impairment

Disorders of the choroid and retina where permanent blindness diagnostic and severity criteria on List A are not met:



Behr’s syndrome
Kearns-Sayre syndrome
Optic atrophy
Retinitis pigmentosa
Retinoschisis (degenerative and hereditary types/juvenile retinoschisis)
Stargardt disease
Usher syndrome.

Disorders resulting in hearing loss



Cortical deafness
Pendred syndrome
Sensorineural hearing loss
Stickler syndrome
Usher syndrome
Waardenburg syndrome.

5. Conditions resulting in multiple types of impairment



Aceruloplasminemia
Addison-Schilder disease /Adrenoleukodystrophy
Albinism
Arginosuccinic aciduria
Aspartylglucosaminuria
Cerebrotendinous xanthomatosis /cerebral cholesterosis
Congenital cytomegalovirus infection
Congenital iodine-deficiency syndrome /cretinism
Congenital rubella syndrome
Glycine encephalopathy /non-ketotic hyperglycinaemia
GM1 gangliosidosis
Hartnup disease
Homocystinuria
Lowe syndrome/ Oculocerebrorenal syndrome
Mannosidosis
Menkes disease
Mucolipidosis II /I-cell disease
Mucolipidosis III /pseudo-Hurler polydystrophy
Mucolipidosis IV
Neuronal ceroid lipofuscinosis (NCL)/ Adult type (Kuf’s or Parry’s disease)/ Juvenile (Batten disease)/ Late infantile (Jansky-Bielschowsky)
Niemann-Pick disease
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Sialidosis
Sulfite oxidase deficiency.

The following mucopolysaccharidoses:



Scheie syndrome /MPS 1-H
Hurler-Scheie syndrome /MPS 1 H-S
Hunter syndrome /MPS II
Morquio syndrome /MPS IVA
Maroteaux-Lamy syndrome /MPS VI
Sly syndrome /MPS VII.

Congenital conditions – cases where malformations cannot be corrected by surgery or other treatment and result in permanent impairment but with variable severity:



Arnold-Chiari Types 2 and 3/Chiari malformation
Microcephaly
Fetal alcohol syndrome
Fetal hydantoin syndrome
Spina bifida
VATER syndrome /VACTERL association.


List D - Permanent impairment/Early intervention, under 7 years - no further assessment required

Synonyms for conditions are also shown (e.g. condition / synonym / synonym)
1. Conditions primarily resulting in Intellectual/ learning impairment

Chromosomal abnormalities resulting in permanent impairment:



Global Developmental Delay
Aicardi syndrome
Aicardi-Goutières syndrome
Angelman syndrome
CHARGE syndrome
Cockayne syndrome/ Types I and Type II / Cerebro-oculo-faciao-skeletal (COFS) syndrome/ Pena Shokeir syndrome Type II / Weber-Cockayne syndrome/ Neill-Dingwall syndrome
Coffin-Lowry syndrome
Cohen syndrome
Cornelia de Lange syndrome
Cri du Chat syndrome
Dandy-Walker syndrome
DiGeorge syndrome/ 22q11.2 deletion syndrome/ Velocardiofacial syndrome/ Shprintzen syndrome/ Conotruncal anomaly face syndrome
Down syndrome
Edwards syndrome/ Trisomy 18
Fragile X syndrome
Kabuki syndrome
Lesch-Nyhan syndrome/ Nyhan’s syndrome/ Kelley-Seegmiller syndrome/ Juvenile gout
Leigh syndrome/ Leigh’s disease/ subacute necrotizing encephalomyelopathy
Menkes disease
Patau syndrome/ Trisomy 13
Prader-Willi syndrome
Rett syndrome
Seckel syndrome/ microcephalic primordial dwarfism/ Harper’s syndrome/ Virchow-Seckel dwarfism
Smith-Lemli-Optiz syndrome
Smith-Magenis syndrome
Sturge-Weber syndrome
Trisomy 9
Tuberous sclerosis
Williams syndrome
Wolf-Hirschhorn syndrome.

2. Conditions primarily resulting in Neurological impairment

Systemic atrophies primarily affecting the central nervous system:



Friedrich’s ataxia
Hereditary spastic paraplegia/ Infantile-onset ascending hereditary spastic paralysis/ L1 syndrome/ spastic paraplegias types 2 and 11
Louis-Bar syndrome/ Ataxia-telangiectasia
Niemann-Pick disease (Types A and C)
Progressive bulbar palsy of childhood/ Fazio-Londe disease.

The following spinal muscular atrophies:



Spinal muscular atrophy Type I/ Werdnig Hoffmann disease/ infantile SMA
Spinal muscular atrophy Type II/ Dubowitz disease
Spinal muscular atrophy Type III Kugelberg-Welander disease/ juvenile SMA
Spinal muscular atrophy lower extremity dominant/ SMA-LED
X-linked spinal muscular atrophy.

Extrapyramidal and movement disorders:



Hallervorden-Spatz syndrome / Pantothenate kinase-associated neurodegeneration (PKAN)/ neurodegeneration with brain iron accumulation 1 (NBIA 1)
Alpers disease/ Alpers syndrome/ Grey-matter degeneration/ Progressive sclerosing poliodystrophy/ Progressive infantile poliodystrophy
Demyelinating diseases of the central nervous system
Adrenoleukodystrophy / X-linked childhood cerebral form
Alexander disease
Canavan disease
Krabbe disease/ Globoid cell leukodystrophy
Pelizaeus-Merzbacher disease.

Episodic and paroxysmal disorders:



Lennox-Gastaut syndrome/ Lennox syndrome
West’s syndrome.

Polyneuropathies and other disorders of the peripheral nervous system:



Dejerine-Sottas disease/ Dejerine-Sottas syndrome/ Dejerine-Sottas neuropathy/ progressive hypertrophic interstitial polyneuropathy of childhood/onion bulb neuropathy
Infantile Refsum disease.

3. Conditions primarily resulting in Physical impairment



Amputations
Diamond-Blackfan anaemia
Epidermolysis bullosa
Harlequin type icthyosis
Hay Wells syndrome/ ankyloblepharon/ ectodermal dysplasia/ clefting [AEC] syndrome
Joint or limb deformities resulting in impaired mobility
Juvenile arthritis/ Stills Disease
Osteogenesis imperfecta
Sjogren Larsson syndrome.

Diseases of myoneural junction and muscle



Congenital muscular dystrophy
Congenital myotonia / Thomsens disease/ Becker myotonia
Distal muscular dystrophy
Duchenne muscular dystrophy
Emery-Dreifuss muscular dystrophy
Facioscapulohumeral muscular dystrophy
Myotubular myopathy
Oculopharyngeal muscular dystrophy
Paramyotonia Congenita.

Cerebral palsy and other paralytic syndromes



Cerebral palsy
Diplegia
Hemiplegia
Monoplegia
Paraplegia
Quadriplegia
Tetraplegia.

4. Conditions resulting in Sensory and/or Speech impairment



Permanent blindness in both eyes, diagnosed and assessed by an ophthalmologist as follows:
Corrected visual acuity (extent to which an object can be brought into focus) on the Snellen Scale must be less than or equal to 6/60 in both eyes; or
Constriction to within 10 degrees or less of arc of central fixation in the better eye, irrespective of corrected visual acuity (i.e. visual fields are reduced to a measured arc of 10 degrees or less); or
A combination of visual defects resulting in the same degree of visual impairment as that occurring in the above points.
(An optometrist report is not sufficient for NDIS purposes.)
Deafblindness confirmed by ophthalmologist and audiologist and assessed as resulting in permanent and severe to total impairment of visual function and hearing.

5. Conditions resulting in multiple types of impairment



Aceruloplasminemia
Addison-Schilder disease/ Adrenoleukodystrophy /
Albinism
Arginosuccinic aciduria
Aspartylglucosaminuria
Cerebrotendinous xanthomatosis/ cerebral cholesterosis
Congenital cytomegalovirus infection
Congenital hypothyroidism
Congenital iodine-deficiency syndrome /cretinism
Congenital rubella syndrome
Galactosaemia with long term learning disabilities and neurological impairment
Glycine encephalopathy/ non-ketotic hyperglycinaemia
GM1 gangliosidosis
Hartnup disease
Homocystinuria
Lowe syndrome/ Oculocerebrorenal syndrome
Mannosidosis
Menkes disease
Mucolipidosis II / I-cell disease
Mucolipidosis III / pseudo-Hurler polydystrophy
Mucolipidosis IV
Neuronal ceroid lipofuscinosis
Niemann-Pick disease
Phenylketonuria
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Sialidosis
Sulfite oxidase deficiency.

The following mucopolysaccharidoses:



Hurler syndrome/MPS1-H
Scheie syndrome/ MPS 1-S
Hurler-Scheie syndrome/ MPS 1 H-S
Hunter syndrome/ MPS II
San Fillipo syndrome/ MPS III
Morquio syndrome/ MPS IVA
Maroteaux-Lamy syndrome/ MPS VI
Sly syndrome/ MPS VII.

The following lysosomal storage disorders:



Gaucher disease Types 2 and 3
Niemann-Pick disease (Types A and C)
Pompe disease
Sandhoff disease (infantile form)
Schindler disease (Type 1)
Tay-Sachs disease (infantile form).

Congenital conditions – cases where malformations cannot be corrected by surgery or other treatment and result in permanent impairment:



Chiari malformation/Arnold-Chiari malformation
Congenital absence of limb(s)
Congenital hydrocephalus
Fetal alcohol syndrome
Fetal hydantoin syndrome
Microcephaly
Spina bifida
VATER syndrome (VACTERL association).


Hope this info helps some one.
cheers, Mario

[Roverlord off road spares]

Got a call on Friday from some mob that want to assess me , seems the hospital had organised this. , They do nursing and aged care etc etc, Cant recall the name of them now but also do aged care homes.
I was expecting a call for a District nurse but not for 8 weeks though. Any way they were confirming an appoint for me that day between 12 -2pm. I said First I have heard about this appointment and I had other medical appointments on at that time.. They needed to ask me some questions, like Did I have fire arms on the premises, do any violent people live here, do i have surveillance cameras, drive way is off street parking available, are there stairs, do I have dangerous pets or animal on the premises.
then they rearranged the appointment for Monday, 5 mins later they changed it to Tues as Monday is a high fire risk day.
OH&S has certainly changed over the last decade.

Also NDIS rang them twice now returning their call to organise a care plan and still no one has bothered to phone back. no one there seems to know what the other is doing.

[Roverlord off road spares]

HI guys just to let you know what is happening with Mario. We have had a lady from Care Connect who came on Tuesday, and we went through a lot of stuff that she wants to change. She will be going with us to the NDIS meeting next month. She is making a report of all the things that have to be change around the house, and personal stuff for Mario and getting our garden done so I have more time with Mario. I would like to say that we appreciate all the offer of help, to all our wonderful friends here that we cherish. A VERY big thank you from me. Heather