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Medical research

My son is disabled with sca (Spina Cerebella Ataxia) there is no medical research going on for this as so few are diagnosed with it in Australia, so please medical research

Last reply: 11th Aug 2011 / 25 replies / Post by 19chris51

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sassygirl

Posted by: sassygirl
Posted: 21st Feb 2011

sassygirl says: Just because your son has something pretty rare is no excuse for the medical board to ignore it. Have you enquired why there is no research going on? Reply

19chris51

Posted by: 19chris51
Posted: 21st Feb 2011

sassygirl says: Just because your son has something pretty rare is no excuse for the medical board to ignore it. Have you enquired why there is no research going on?

19chris51 says: yes, it is apparently too expensive, and unfortunitly I don`t have the money to go overseas, it is apparently 1 in 300,ooo in this country, considering our population, thats is not many....... it is a mix between Parkinsons-spina abifita-motor neurines disease plus MS has some of all the symptons, with killer headaces,epilespy and of course his nervous system is degenerating, he is 35 yeats old and can not do much except sleep most of the day and night, no it is no excuse for the medical board to ignore it, but it is in the too hard basket... THANKYOU for your time with this I guess I just have to vent because people seem to pat him on the head, then say go away (even Spesialists), it is frustrating watching him try to do lots of things. Reply

Niki

Posted by: Niki
Posted: 3rd Jun 2011

19chris51 says: yes, it is apparently too expensive, and unfortunitly I don`t have the money to go overseas, it is apparently 1 in 300,ooo in this country, considering our population, thats is not many....... it...

Niki says: Hi Chris
Many people with rare ailments have embraced, with great success, the shift to alternate therapies and healing. You may check out the Wellness Revolution/Healthier Living website giving breakthroughs in healing, webinared by Adoley Odunton, or centers like National Center for Complementary & Alternative Medicines. They conduct medical researches also. Keep your chin up, Chris; there's always a light at the end of every tunnel. I sincerely wish your son a wellness breakthrough. Reply

19chris51

Posted by: 19chris51
Posted: 21st Feb 2011

19chris51 says: sorry the odds are 1 in 300.000.000 my mistake in the respose Reply

19chris51

Posted by: 19chris51
Posted: 21st Feb 2011

19chris51 says: sorry the odds are 1 in 300.000.000 my mistake in the respose Reply

19chris51

Posted by: 19chris51
Posted: 21st Feb 2011

19chris51 says: sorry the odds are 1 in 300.000.000 my mistake in the respose Reply

sassygirl

Posted by: sassygirl
Posted: 22nd Feb 2011

sassygirl says: I used to nurse in a hospital with MS, motor neurone, and other brain and nerve diseases and I know how hard it is on patients and their families to cope but at least there is research for these. Have you tried lobbying your member of Parliament to see if they can help? Good luck. Reply

19chris51

Posted by: 19chris51
Posted: 23rd Feb 2011

sassygirl says: I used to nurse in a hospital with MS, motor neurone, and other brain and nerve diseases and I know how hard it is on patients and their families to cope but at least there is research for these....

19chris51 says: in answer to your question..yes, its such a rare condition effecting so few people,itis too much expense, (of course those words were not spoken, but it what it seemed to imply)Goodness, I even been in touch with my local and Federal MP`s to try and assit us with Housing (we live in Dept Housing) we need modified housing, we have been on the transfer list for 3 years(Medical), we have supplied them with Specialists letters (several) and OP`s, still waiting, and the MP`s can not help, and least one answered me, the other seems to have ignored me, sorry just venting again, and yes, I will count my blessings,I still have my precious Son, a lovely a equally precious Daughter (whom has POTS) and 3 beautiful grandchildren (in Victoria) thankyou Reply

sassygirl

Posted by: sassygirl
Posted: 23rd Feb 2011

sassygirl says: Sorry to hear you've had no satisfaction from your efforts to get help. Government departments can be very uncaring so long as it does'nt affect them. I hope someone takes the time to listen to you soon. Reply

19chris51

Posted by: 19chris51
Posted: 23rd Feb 2011

19chris51 says: THANKYOU SO MUCH Reply

Jo

Posted by: Jo
Posted: 8th Mar 2011

19chris51 says: THANKYOU SO MUCH

Jo says: Sorry, first time I've tried this, and didn't quite understand how it works. This sounds very similar to something I have which has bee loosely defined as cerebella atrophy and ataxia with complex metabolic disease. I've found the discussion here very interesting as I've basically been also put in the "too hard basket" as the specialists don't know what else to do or try. There's also some sort of brain tumour/lesion which they have openly admitted they'd like to operate to find out what that is, however the risk of the various other co-morbidities outweighs doing the brain surgery as they might make things worse (he referred to epilepsy as being the most likely thing that they would add to the equation, but there was equal risk of brain damage) and there's an equal chance if it being benign. So for me it's a case of "let sleeping dogs like" and now have annual MRIs of the brain. I am sorry for you and your son, and do totally relate to your situation. I shall raise the term Spina Cerebella Ataxia with my specialist when I next see him and see if he has any leads that he can follow. Reply

19chris51

Posted by: 19chris51
Posted: 8th Mar 2011

Jo says: Sorry, first time I've tried this, and didn't quite understand how it works. This sounds very similar to something I have which has bee loosely defined as cerebella atrophy and ataxia with complex...

19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort of a metabolic defiency, would your metabolic disorder be something to do with Pyruvate Dehydrogenase?My son is very interested to find answers,he has also been diagnosed with epilepsy, he also suffers from bad pain in his cerebella region (Trigeminal nerve) which goes all around his face as well.
He has not had an MRI for probably 2 years (which I personally find disgusting) the specialists up here (Central Coast) seem to just not bother, I would be interested and so would Adam to hear more aboat your diagnosis, and your Specialists opinion, until next time, please take care, and yes you are right no brain surgury sounds quite a daunting thought.....Chris
Reply

19chris51

Posted by: 19chris51
Posted: 8th Mar 2011

Jo says: Sorry, first time I've tried this, and didn't quite understand how it works. This sounds very similar to something I have which has bee loosely defined as cerebella atrophy and ataxia with complex...

19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort of a metabolic defiency, would your metabolic disorder be something to do with Pyruvate Dehydrogenase?My son is very interested to find answers,he has also been diagnosed with epilepsy, he also suffers from bad pain in his cerebella region (Trigeminal nerve) which goes all around his face as well.
He has not had an MRI for probably 2 years (which I personally find disgusting) the specialists up here ( seem to just not bother, I would be interested and so would Adam to hear more aboat your diagnosis, and your Specialists opinion, until next time, please take care, and yes you are right no brain surgury sounds quite a daunting thought.....
Reply

19chris51

Posted by: 19chris51
Posted: 8th Mar 2011

Jo says: Sorry, first time I've tried this, and didn't quite understand how it works. This sounds very similar to something I have which has bee loosely defined as cerebella atrophy and ataxia with complex...

19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort of a metabolic defiency, would your metabolic disorder be something to do with Pyruvate Dehydrogenase?My son is very interested to find answers,he has also been diagnosed with epilepsy, he also suffers from bad pain in his cerebella region (Trigeminal nerve) which goes all around his face as well.
He has not had an MRI for probably 2 years (which I personally find disgusting) the specialists up here ( seem to just not bother, I would be interested and so would my son to hear more aboat your diagnosis, and your Specialists opinion, until next time, please take care, and yes you are right no brain surgury sounds quite a daunting thought..... Reply

19chris51

Posted by: 19chris51
Posted: 9th Mar 2011

Jo says: Sorry, first time I've tried this, and didn't quite understand how it works. This sounds very similar to something I have which has bee loosely defined as cerebella atrophy and ataxia with complex...

19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort of a metabolic defiency, would your metabolic disorder be something to do with Pyruvate Dehydrogenase?My son is very interested to find answers,he has also been diagnosed with epilepsy, he also suffers from bad pain in his cerebella region (Trigeminal nerve) which goes all around his face as well.
He has not had an MRI for probably 2 years (which I personally find disgusting) the specialists up here ( seem to just not bother, I would be interested and so would my son to hear more aboat your diagnosis, and your Specialists opinion, until next time, please take care, and yes you are right no brain surgury sounds quite a daunting thought..... Reply

19chris51

Posted by: 19chris51
Posted: 9th Mar 2011

Jo says: Sorry, first time I've tried this, and didn't quite understand how it works. This sounds very similar to something I have which has bee loosely defined as cerebella atrophy and ataxia with complex...

19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort of a metabolic defiency, would your metabolic disorder be something to do with Pyruvate Dehydrogenase?My son is very interested to find answers,he has also been diagnosed with epilepsy, he also suffers from bad pain in his cerebella region (Trigeminal nerve) which goes all around his face as well.
He has not had an MRI for probably 2 years (which I personally find disgusting) the specialists up here ( seem to just not bother, I would be interested and so would my son to hear more aboat your diagnosis, and your Specialists opinion, until next time, please take care, and yes you are right no brain surgury sounds quite a daunting thought..... Reply

19chris51

Posted by: 19chris51
Posted: 9th Mar 2011

Jo says: Sorry, first time I've tried this, and didn't quite understand how it works. This sounds very similar to something I have which has bee loosely defined as cerebella atrophy and ataxia with complex...

19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort of a metabolic defiency, would your metabolic disorder be something to do with Pyruvate Dehydrogenase?My son is very interested to find answers,he has also been diagnosed with epilepsy, he also suffers from bad pain in his cerebella region (Trigeminal nerve) which goes all around his face as well.
He has not had an MRI for probably 2 years (which I personally find disgusting) the specialists up here ( seem to just not bother, I would be interested and so would my son to hear more aboat your diagnosis, and your Specialists opinion, until next time, please take care, and yes you are right no brain surgury sounds quite a daunting thought..... Reply

Jo

Posted by: Jo
Posted: 10th Mar 2011

19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort...

Jo says: Aargh, I shall never get the hang of all this modern technology. Not come across the term Pyruvate Dehdrogenase, will have to go on the net to find out. Mine is due to some form of inability to naturally absorb B12 (for which I have monthly injections) and also calcium deficiency caused by inability to absorb Vitamin D. I am now on as needed Vitamin D injections although it's such a pain for the specialist to go through (has to send all sorts of forms through to Canberra each time one is needed, justifying his ability to authorise and perform the injection - it's just a needle right? Honestly the system has a lot of pros going for it in terms of ensuring that only the genuine cases get seen to, but there's an awful lot of cons making it just so hard to get basic things done). No idea why they won't do another MRI - my specialist has had me having them every six months - now, thanks to the tumour not having changed size in over a year it's been relaxed to once every year, unless of course I feel a radical change in myself, in which case they'll get me done as soon as possible. I see a specialist in the Endocrinology Department of Royal North Shore, and he is very good - and very dedicated (the last time I was admitted so he could do a number of tests - it's much quicker to get things done as an inpatient rather than an outpatient so he simply admitted me on the spot - anyway, he came to see me at around 11:00pm at night to have a discussion [good thing I was awake!]) and he's pushed my symptoms through his colleagues around the world. He's just a bit desperate as he himself feels like he's not getting anywhere but he's certainly tried just about every possible avenue. Maybe it is as per an earlier reply to your initial query that perhaps it's so rare and affecting so few people that maybe there just isn't enough definite and similar information for anyone to make a single correct diagnosis. And as for fixing it - well, if they don't really know what they are trying to fix, I guess I can understand some reluctance in just trying anything. I know my poor guy has sometimes felt we're all clutching at straws and he really doesn't know where to go next. But at least he keeps trying and keeps seeing me every 3 months (or more often if he's not happy with the blood test results) and does regular blood tests to see whether there's some sort of pattern with certain vitamins and minerals suddenly becoming deficient and sometimes rectifying themselves with injections. Anyway, sorry for the long response. Persevere, don't give up, and most definitely push for a follow up MRI. Incidentally, I'm 47, but I was around 39 when my symptoms suddenly started appearing and causing all sorts of issues with balance, headaches, "bone aches" (for want of a better definition, vomiting and nausea and so forth. Possibly it's an age related thing due to the modern lifestyles we now live. An interesting thought. Best wishes to you and your son. Jo Reply

Jo

Posted by: Jo
Posted: 8th Mar 2011

Jo says: Reply

Parsimony

Posted by: Parsimony
Posted: 24th Apr 2011

Parsimony says: I work with Lifeline Queensland for their disability services. At the moment there is a once in a lifetime opportunity for people with a disability and their families and carers to support a fundamental change.
The Productivity Commission has recently released an interim report on Disability Support. This proposes that rather than the current broken disability support system that is based on charity and poverty that a new system is put in place that is supports people with a disability according to their need.
This will mean that families will have the opportunity to be a family member rather than be their son or daughters carer because there is no other option.
Chris that doesn't mean that immediately there will be more research into your son's unique condition but there will be greater chances of meaningful research occurring however this new needs based scheme should mean that you and other families should be better supported earlier and prevented from going into crisis. Goodluck, John Reply

19chris51

Posted by: 19chris51
Posted: 17th May 2011

Parsimony says: I work with Lifeline Queensland for their disability services. At the moment there is a once in a lifetime opportunity for people with a disability and their families and carers to support a...

19chris51 says: thankyou Parsimony(John) It is now the 17th of May and I am just answering you, sorry I did not recieve notification of your response, I was just looking through and noticed your reply, so thankyou.
That sounds like a really good thing is hopefully going to happen, I live in NSW, but if there is any chance of being involved with this project, then I`d like to, do I contact Lifeline in my state? it is a really good idea, My Son carries a carers card and can only get this card if he has a degenerating condition, so much help is appreciated, thankyou Chris Reply

Parsimony

Posted by: Parsimony
Posted: 17th May 2011

19chris51 says: thankyou Parsimony(John) It is now the 17th of May and I am just answering you, sorry I did not recieve notification of your response, I was just looking through and noticed your reply, so...

Parsimony says: Chris,
Go to this website http://everyaustraliancounts.com.au/

This is the centre for the National campaign. In the contacts tab there will be contacts throughout Australia. See how you go but this is a truly unique opportunity that doesn't come along often. The last time we this close was when there was legislation to establish this type of scheme in the Federal Parliament when Whitlam was dismissed in 1975..
There are good people in NSW but I don't know what the impact of the new state government has been. get back to me if there is anything I can do to help, John Reply

19chris51

Posted by: 19chris51
Posted: 17th May 2011

Parsimony says: Chris,
Go to this website http://everyaustraliancounts.com.au/

This is the centre for the National campaign. In the contacts tab there will be contacts throughout Australia. See how...

19chris51 says: thankyou John, I think I am on my way to slumberland for now( its 10.45pm ) but shall try this in the morning and get back to you, many,many thanks Chris Reply

Parsimony

Posted by: Parsimony
Posted: 10th Aug 2011

19chris51 says: thankyou Parsimony(John) It is now the 17th of May and I am just answering you, sorry I did not recieve notification of your response, I was just looking through and noticed your reply, so...

Parsimony says: Chris,
I hope you will have seen the announcement today by the Prime Minister of her support for a National Disability Insurance Scheme. The talk is that this will take some years to fully introduce but hopefully it means a better future for you and your son. Best Wishes, John Reply

19chris51

Posted by: 19chris51
Posted: 11th Aug 2011

Parsimony says: Chris,
I hope you will have seen the announcement today by the Prime Minister of her support for a National Disability Insurance Scheme. The talk is that this will take some years to fully...

19chris51 says: Thankyou Parsimony (John) I have seen the announcement, but as yet unsure of the ins and outs of the policy, I`m hoping that it will help us, and hope it is in time for him, we just don`t know!!!! some days are better then others, I really do not understand it as yet (ho hum), but sincerly hope you are right and it is some hope for us (him) to have a better future, thankyou Chris Reply

19chris51

Posted by: 19chris51
Posted: 11th Aug 2011

Parsimony says: Chris,
I hope you will have seen the announcement today by the Prime Minister of her support for a National Disability Insurance Scheme. The talk is that this will take some years to fully...

19chris51 says: Parsimony John.......Thankyou for being a really nice, thoughtful person
thankyou Chris Reply

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