Transcripts For DW In Good Shape 20240714

So rare that a regular g. P. Has never had off them but who sort of thing is stuck to high here at the sheraton in berlin welcome to. Imagine you have a disease that no one knows when it could be that its a rare disease and you would be surprised to read diseases are not so seldom. Do you remember the ice bucket challenge in the crazy year of 2014 where stars doctors and joes most had ice pockets with ice cold water it doesnt over their heads to raise awareness for a less the amyotrophic lateral sclerosis a very rare disease and many people were saying this is a silly perplexities stunt but do you really think it was that silly. That. In 2014 Bruno Schmidt came across the ice bucket challenge a Fund Raising Campaign for research into a. O. L. s. Hed never heard of the disease and decided to find out about it then came a shock damages im told my good site on it is all there in black and white about us markets opened and muscle twitching. And the fine motor skills are the 1st to go there. 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. The i kept telling him to see a doctor. And then things were impossible to ignore he had many tests after 4 months of diagnosis a year 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 theres no treatment for 2 weeks it was terrible but then i said theres no point moaning im 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 5 or 6 times in the space of an hour and i said im not so sure about that. But theres 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 its 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 whats really important to him. Enjoying life more every 2nd of it and i try and see everything in a positive light. This is the biggest challenge of his life but he hasnt given up hope mine i want to outlive my parents i promised them that i wouldnt go before them and i want to meet my grandchildren thats really important. Hes determined to live as long and as well as possible. As is not just in tact of course its hard to deal with it every day but as long as my father is coping thats what counts. The family knows that life will change and become more difficult each time brunos symptoms worse and they have to readjust its a challenge for the whole family. And he was. 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 thats 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 regs this topic just public recognition is absolutely helpful so indeed we need more of it but its a different mission this is in principle its its its 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 20 patients known worldwide to those socalled orphan diseases so often disease is a disease when we dont even know if the name for the disease but the red disease is a disease where we have a name and all those red diseases have something common next to quite rare yeah indeed so calm. And problems into common 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 on the way to finds a diagnosis the 2nd problem is not enough experts so if you mention different great diseases you dont have to 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 to put somewhere and to search a common problem is that when there might be a chance to develop a new. Treatment and new and new drac its very difficult to convince the. Industry to invest in this is just weve talked about this in the army and it is not its ok but it has been already addressed that all of these 3 problems a common and that we need to centers what do you do better than i do i know better but we have so we after. The problem over a long time we have 2 main tools to say we have time and the 2nd thing we are doing what you can do. That we organize interdisciplinary 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 its a 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. Girl which has been referred to age of 6 months with severe obesity which is absolutely common and common interests in this age and. In addition to this extreme obesity there was and. Endocrine hormone deficiency and its time even this symptoms to be have not been described in terms of often disease and and its time we talked a lot about that was an Interdisciplinary Team and we really found the diagnosis and it was a defect which. By which we could explain the whole the whole disease and the disease as a name and the lucky part of this story is that after a long time we now also successful do to develop a new treatment based on this recognition of the disease and now shes great because youre probably just substitute what is missing and if we doctors cant find a diagnosis we sometimes think that the patient is making it up and then such a center for a disease is might be the best solution. Its a situation that diana zeba is all too familiar with shes been plagued by severe pain in her legs since childhood back then no one took her seriously. Just us and told my friend the fact that my heart i was usually told the symptoms were the kind of growing pains are suffered by Young Children and then there were the gastro intestinal issues they used to give me some sort of medication to help a bit with that button but the leg pains werent taken seriously at all what it was that people said i was imagining things last time. And that went on for years but out of axel 2 years ago she sought help at a center for disease in our. Neurologist my code on examined her and pinpoint the cause of her problems after just 2 consultations yeah and thats me. It was a weight off my shoulders of my heart that i finally knew what was wrong with me i said signs up in which i always had the feeling that i had something rare but it was never investigated or confirmed. It by us from i because the doctors didnt believe me they thought i was faking it making it up latin indians and. Diana suffers from a rare genetic disorder fabry disease. This heist harsh on it starts with neuropathic pain burning tingling or stabbing sensations in your hands and feet then theres heat and cold intolerance skin sensitivity in general a reduced ability to perspire caused by damage to nerves in the skin it can lead to heart arrhythmia and other heart issues its all due to a specific enzyme deficiency which causes certain substances in the body to build up to harmful levels gifty since. Diana was prescribed medication which shes been taking for 5 months she still has some pain but shes been improving from month to month for out. I would never have thought that my gastro intestinal or heart problems would improve all my rash for women thats always the worst having a rash is a big deal and thats gone like shes also stopped taking many other medications like antibiotics but most importantly she now knows for sure whats wrong the most not because thats but if you have the feeling that something isnt right then you should continue to fight for a proper diagnosis and not accept a mistake and i just. Feel. That diagnosis has made all the difference finally diana saber feels optimistic about the future again. And heres the scary statistic from germany about the Rare Diseases it takes an average patient with already 6. 5 years from the outbreak of symptoms until he sees a specialist and in the meantime he tried 10 doctors 2 or 3 wrong diagnosis were made and he has put himself through 2 or 3 wrongful surgical interventions so this is quite an odyssey how does this affect the patients so they dont know what is easiest to have no idea what they can expect theres no idea if if they ever find someone who can treat it so this uncertainty is. We have a problem at the 2nd point which is also. Really really tough for the patients if youre alone into the system so that its no one can really discuss a disease and if you are ill you expect experts in the Health Care System and if you only find someone who says i dont know 3 fried dont know this is really a problem its frightening yes indeed so sometimes the patients hear from their doctors that all the problems are just psychological so how can you distinguish between psychosomatic problems and really some headache problems if you really have it for a long time is this uncertainty about your diagnosis just brings you in a completely different psychological level and at the end you cannot really discriminate is it a problem or a psychological disease or is it just not just the reaction to the somatic disease and you need. Also for that Interdisciplinary Team to take a lead and and we are working together with this clinics from psychosomatic department so that we. Offer the patients that we that we would think about all aspects in this context many causes of genetic they can occur in adults. Kids and yeah this is this is possible so we have. 8000. 00 mentioned Rare Diseases approximately 7080 percent are genetic and most of them money fast. In childhood but 7 awesome also money 1st later in life so that you have interacted under various subtle symptoms but later on when you get a really good diagnostic tool we also need for the Adult Patients as. So the genetic sequencing sold to the new genetic techniques you say that even if you cannot treat it genetic disease it is still porton to give the patient the diagnosis recant estimates of prognosis of the patient so when its a known disease it might might be that that we can expect after 45. 00 for as a years of the disease course that possibly in diabetes for money fast so were not bait until the symptoms of the diabetes so then you can screen for this money frustration and this will help the patient not to run into the severe symptoms and then one important point is that as soon as we have to diagnosis we dont have to do much more further investigations and finally we have several diseases where we can really treat and we can develop treatment based on the more likely a defect we can find bugs or genetic diagnosis thanks so much for having me here today thank you very much and one of the most interesting things for me here was that this is an Interdisciplinary Team which takes care of the patients and we do have an International Team which takes care for all the questions viewers of the w like david. And augustine reason you for the input for todays show thanks so much and keep sending in questions in. An upcoming show well be looking at time management many people suffer from time pressure in their lives sometimes you have too much time on your hands and then suddenly too little how can you keep it from slipping through your fingers like sand send your questions to and good shape that v. W. Dot com the key word is time management we look forward to hearing from you. And not so rare disease is power race is also known as fresh full bladder rich is the fear of public restroom. In most of the cases people who feel the germs in the restroom had to be rest assured restrooms and not the dangers and germs everywhere. Lets take a look at how they come into contact with bacteria and spread them around but where do bacteria hang out in our every day surroundings and on which species. But how many germs actually stick to our home. We checked it out. This is louisa our test subject well follow her around for a morning. What kinds of bacteria are to be found on louises homes to begin with the petri dish is used to collect the samples. Professor rania mortars from the institute for medical microbiology and hygiene at Philips University of marburg will be analyzing the samples for us. So what did he find right after louisa got up. We found lots of germs that are typically found on the hand like strains of micro caucus and stuff. We would expect a clean washed hand to yield about 50 colonies on a dish like this and thats kind of one up but louisa had 300. 00 so quite a few times more than a few thousands the smarter maybe she didnt wash their hands properly or the towel she used to dry them wasnt clean up talk with. What other bacteria will join those germs to find out louisa wont wash their hands for a while. The 1st candidates a lurking in the kitchen in sponges for instance. How long is this one been in use. For 5 weeks its certainly never been washed. The direct contact test shows that the sponge contains gut and skin floor. But also Fecal Bacteria most of them come from food in serious cases they can cause lung infections or even sepsis. Now theyre probably sticking to louises fingers and thats not good because places with lots of people are often ideal for bacterial exchange. Here louis says picks up a few more bacteria. Experts actually consider the metal bars in the stop button fairly harmless but of. We see large numbers of germs on the seat of your skin flora but also germs that shouldnt be there like our sinitta back to high in other words someone sat here with a bacterium that could be a pathogen the crew transmitted in large numbers of it could cause an infection if its also as a person who was making posse of border. Many people expect to find large numbers of but here but in fact the germ load on an escalator rail is quite low. Something carts though are a different story there often lots of classic human bacteria on the grid mostly harmless skin germs but also pathogens the cause diarrhea this is some clue luckily there were no pathogens on it of them but you do commonly find them on shopping carts is they pose a hygiene problem because theyre rarely if ever cleaned him. Louisas workplace is also a hotbed of bacteria the sample from the door handles sort of 400. 00 colonies. Whats worse the telephone and Computer Keyboard both have too many gut and Fecal Bacteria on the germs can spread on down puns. And is this even worse no not if the toilet is cleaned regularly. Its a little toilets going to inspire fear but in this case there was nothing dramatic found a large number of bacteria but no pathogens to worry about its kind. We said has come into contact with many different bacteria this morning how many of it here to our. Reason in the course of the day louises being contaminated with some bacteria that arent necessarily pleasant alongside gut flora and enter a caucus that was a stuff a caucus or ias which is a pos forming germ than an arson eater back on a germ the causes lung infections in hospitals in immune compromised patients especially when its antibiotic resistant them can. Love louise or can wash their hands its a good idea to wash for 20 seconds after going to the toilet and before eating and to dry your hands thoroughly to keep the bacteria from multiplying. I personally cannot understand why some fruit to be dark because you can use darkness as he likes to. Hey. This is what rebecca to man will see for the next 42 hours absolutely nothing. Darkness therapy involves spending time in a room without any light. Yamato sort of says i and i felt this really strong drool this pulls a feeling that i would like to spend several days in the dark and i wasnt afraid or skeptical after all we all come from the womb to elsmore to live. Her dark retreat is being supervised by Natural Health practitioner saskia your rebecca moves in with her an hour before it starts. This room will be her she domain in case of an emergency saskia will always be close by. If you feel really moved by something or fear bubbles up and you notice that you need help then just call out ill be there. The light switches are taped down just to make sure. The blinds are closed time to get serious. Some believe that living for days in complete darkness is dangerous. Heights of depriving someone of external stimuli like lights for example which is so very important for our sense of well being is something that can be very harmful for people who arent particularly stable psychologically or even physically. Come. On ive never heard or read anything that suggests this could trigger psychosis or anything negative. And there are lots of books about it people fear it could happen but experience shows differently i dont know of a single case where this has actually happened. Saskia has undergone 3 sessions of darkness therapy herself. The last one was 26 days long that was when she decided to share this experience with others but support is important she talks to her clients for an hour each day. 42 hours later and rebecca is emerging from the darkness listless and old how does she feel she moves carefully as she did when it was dark. And. I feel really really grounded and definitely very rested relaxed soft but also very in sync with myself. Alfheim there by mia. Rebecca plans to come again to continue her therapy in the dark. As a t. V. Doctor i do love the spotlight and it will go on again next week and until then lets all try to stay in good shape. A mixed ethnic bag cast into one Dance Company 12 exceptional dancers from across the globe are brought together by one of the most exciting choreographers of our time. Thats the kind of area where should sit down and the ballet of. Next g. W. 2 my abusers the priests. Ts caps and used as a child by priests. At a Catholic School in berlin decades later he finally speaks out. Many other victims also step forward and yet his abusers havent been punished to this day now my ts catch is tracking them down in chile in 45 minutes. Im not laughing at the germans because somebody down the place and nothing with the time of the budget i dont think deep into the german culture. You did see them take this ground and they all eat because its all about who they know im rachel join me for me to get the bungee jumping coolest place. To. Go to the girl max you tube channel. Go to a good line of stewards. With exclusive insights. And a must see concerning startup culture to ensure a. Place to be curious minds. Do it yourself networkers the book. So subscribe it dont miss out on. The news of the times over the years this is. What you dont have a dance school in ivory coast i do performance as a choreographer and performer. But my dance is africa and afro dance afro beat and all that with richard its very different because with richard its classical contemporary afro japanese march choreography so its japan and. Europe i