imagine you have a disease that no one knows when it could be said it's a rare disease and you will be surprised where is you just are not so seldom do you remember the ice bucket challenge in the crazy year of two thousand and fourteen where stars doctors and joe schmoe had ice bucket with ice cold water it dumped over their heads to raise awareness for a less. letterman sclerosis a very rare disease and many people were saying this is just silly populous city stunt but do you really think it was that silly. that. in twenty fourteen bruno schmidt came across the ice bucket challenge

a fund raising campaign for research into a.o.l.'s. he'd never heard of the disc and decided to find out about it then came a shock. and told my website it was all there in black and white about us markets opened and muscle twitching cramps. and the fine motor skills of the first to go. the inability to open doors and bottles i was exactly what i was experiencing now that was like scales falling from my eyes. from it all the muscle twitching had grown more frequent. telling him to see a doctor. and then things were impossible to ignore he had many tests after four months of diagnosis a less is a progressive neurological disorder the mind remains fit but nerves and muscles gradually degenerate until breathing becomes impossible. i feel completely

abandoned at the diagnosis and they say there's no treatment for two weeks it was terrible but then i said there's no point moaning i'm changing the rules this disease is going to have to work hard to destroy me. he began to tackle the disease head on with daily balance board training by a resonance therapy hypnosis and dietary changes. and i refused to let the doctors convince me that the disease will follow a set path that it will kill me. and they told us that five or six times in the space of an hour and i said i'm not so sure about that. but there's no denying that the symptoms are progressing things like brushing his teeth or showering are becoming increasingly difficult on waking he feels stiff and weak the former athlete is witnessing his body gradually giving way to the disease

. cycling is one of his great passions but this too is becoming increasingly challenging. a special hydraulic system and electric gears make things easier. to sit on my bike and cycle off i forget about my disease i just focus on riding my bike it's great fun i love it. even though his gradually declining strength is making life harder bruno tries to live a normal life. but i do have to be careful not to waste too much time on pointless activities. his diagnosis has helped clarify what's really important to him. and enjoying life more every second of it and i try and see everything in a positive light. this is the biggest challenge

of his life but he hasn't given up hope of mine i want to outlive my parents i promised them that i wouldn't go before them and i want to meet my grandchildren that's really important. he's determined to live as long and as well as possible. as is not. intact of course it's hard to deal with it every day but as long as my father is coping that's what counts. the family knows that life will change and become more difficult each time bruno symptoms worse and they have to readjust it's a challenge for the whole family. and he was the. head of the department for rare diseases at the bridge hi thanks for having me today we just saw a report of a patient who was made aware of his condition that it's his name a less after he saw the ice bucket challenge which was quite

a spectacular procedure is it very important that we have more such fundraising campaigns yes obviously and it was a very good example that for the red disease topic this public recognition is absolutely helpful so indeed we need more of it but it's a different disease in principle it's it's it's a border where expertize. in the system is not enough to all patients with this rare disease will find help in the system maybe some of the normal experts will know the disease but we have as are diseases in the range of twenty patients known worldwide to those so-called orphan diseases so often disease is a disease when we don't even know if the name for the disease but the red disease is a disease where we have a name and all those rare diseases have something in common next to it they're quite rare yeah indeed so calm. and problems into coming topics are for us the

diagnosis is always very late in this patients because no one knows the disease no one thinks about the disease and. years in the system the way to find diagnosis the second problem is that it's not enough experts so if you imagine i was in different thread diseases you don't have the experts for all of a silent but every patient with the disease at least in the high developed healthcare systems has a right to have an expert and and at least to find somewhere in the world and to search a common problem is that when there might be a chance to develop a new. treatment and new and new drac it's very difficult to convince the. industry to invest in this just with the army and it is not it's ok but it has been already addressed that all of these three problems

a common and and for that we need to centers what do you do better than i do i'm not better but we have so we after. the problem over a long time we have two main tools to say we have to case conferences where all the experts come together to really think about the patient in a holistic way that each one thinks only about the liver or the brain so as it's come together you see a lot of patients with rare diseases some patients there stick in your mind one patient is for music most intense patient was a. girl which has been referred to the age of six months with severe obesity but just absolutely common and common in this city in this age and in addition to this extreme obesity. endocrine hormone deficiency and it's

a time. even this sometimes together have not been described in terms of the often disease and it's time we talked a lot about that was an interdisciplinary team and we really found the diagnosis and it was a defect which. by by we could explain the whole the whole disease and to do this as a name and the lucky part of this story is that after a long time we are now all too successful do to develop a new treatment for this go based on just recognition of the disease and now she's great because you could you substitute what is missing and if we doctors can find a diagnosis sometime soon that the patient is making it up and then such a center for a disease is might be the best solution. it's a situation that diana zeba is all too familiar with she's been plagued by severe

pain in her leg since childhood back then no one took us seriously. just us some time of an attack and that my heart i was usually told the symptoms were the kind of growing pains are suffered by young children and then there was the guest.