And a. O. L. s facing a rear neurodegenerative disease head on. And use your host dr carsten laid out. Some doctors i really ought dont you think especially those who are on t. V. Do you know the show dr house this guy solves medical mysteries there are 50000 different diagnosis and medicine 8000 of them are about Rare Diseases so rare that a regular g. P. Has never heard of them but who sort of thing the stock to heikal quarter here at the sheraton in berlin welcome to in good shape. Imagine you have a disease that no one knows when it could be that its a rare disease and you will be surprised where diseases are not so seldom. Do you remember the ice bucket challenge in the crazy year of 2014 where stars doctors enjoy most had ice buckets with ice cold water over their heads to raise awareness for a less. Letter roads to rosas 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. And told him good site and it was all there in black and white about us markets opened and muscle twitching cramps. And the fine motor skills of the 1st to go. The inability to open doors and bottles i was exactly what i was experiencing was like scales falling from my eyes. From it all the muscle twitching had grown more frequent. Kept telling him to see a doctor. And then things were impossible to ignore he had many tests after 4 months a diagnosis illness is a progressive neurological disorder the mind remains fit but nerves and muscles gradually degenerate until breathing becomes impossible. I feel completely abandoned i get 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 bio 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. 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 as 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 up 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 the 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 its not just really intact 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 bruno symptoms worse and they have to readjust its a challenge for the whole family. And he was the. Head of the department for Rare Diseases at the brilliant 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 from tracing campaigns yes obviously and it was a very good example that for the regs in this topic just public recognition is absolutely helpful so indeed we need more but what is the definition of disease in principle its its the border whereas 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 other diseases in the range of 20 patients known worldwide to help socalled orphan diseases so often disease is a disease when we dont 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 it 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 the way to find diagnosis the 2nd problem is that its not enough experts so if you mention different grade diseases you dont have the experts for all of a solvent but every patient with the disease at least in the high developed Healthcare Systems has a right to live next birds and and at least to find some sense assert 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 an alarming 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 what we are doing what you can do. That we are going to 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 if they come together you see a lot of patients with Rare Diseases some patients there stick in your mind one patient for music most intense patient was a. Girl which has been referred to 6 months with severe obesity which is absolutely common and common interests in this age and. In addition to this extreme obesity 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 by which we could explain the whole the whole disease and to do the system name and the lucky part of this story is that after a long time we also successful due to developing new treatment based on this recognition of the disease and. Great because you could really substitute what is missing and if we doctors can find diagnosis sometimes that the patient is making it up and then such a center for a disease this 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 a seriously. Myself. Some tore my hand plaque in that my heart i was usually told the symptoms were the kind of growing paying us 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 but the leg pains werent taken seriously at all what exact people said i was imagining things last time. And that went on for years. 2 years ago she sought help at a center for red diseases in our. Neurologist my code on examined her and pinpoint the cause of her problems after just 2 consultations. And. It was a weight off my shoulders of my heart and i finally knew what was wrong with me i said false. I always had the feeling that i had something rare but it was never investigated or confirmed. It vice because the doctors didnt believe me they thought i was faking it making it up and. Diana suffers from a rare genetic disorder fabry disease. Thats highest harsh on it starts with neuropathic pain and burning tingling or stabbing sensations in your hands and feet then there is 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 with mia 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 sent. Diana was prescribed medication which hes been taking for 5 months she still has some pain but shes been improving for. Month to month if i have any good. 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 them best not to feel that 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 you. Feel. The 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 the user has no idea what they can expect no idea if if they ever find someone who can treat it so this uncertainty is really a problem and the 2nd point which is also. Really really tough for the patients that if you 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 from someone who said i dont know 3 fried no no this is really a problem thats right yes indeed so sometimes the patients hear from their optos that all the problems are just psychological so how can you distinguish between psychosomatic problems. And really some headache problems if you really have to for a long time since uncertainty about your diagnosis just brings you in a completely different psychological level and at the end you cannot really discriminate is that of primary psychological disease or is it just not just or is that its a reaction to the somatic disease and you need. Also for that Interdisciplinary Team to take a lead and and we are working together. With clinics from psychosomatic department so that we. Offer the patients that we. Think about all aspects in this context many causes of. Genetic they can occur in adults or kids and yeah this is this is possible so we have this wasnt mentioned disease is approximately 7080 percent of our genetic and most of the money fast in childhood but also money shows later in life so that you have tried to under various subtle symptoms but later on then you get really good diagnostic tools we also need for the Adult Patients theres also the genetic sequencing so that theres a new genetic techniques you see that even if you cannot treat genetic disease it is still hard to give the patient the diagnosis estimates of proposals of the patient so when its a known disease it might be that we can expect after 4 or 5 for as the years of the disease course that possibly diabetes for money fast so we would not bait until the symptoms of the diabetes so then you can screen for this money for station and this will help the patient. Not to run into the severe through turns and then one important point is that as soon as we have to diagnose truth 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 molecular defect we can find by the genetic diagnosis thanks so much for having me here today thank you rebecca 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 a dont. Augustine of a new prison you probably input for todays show thanks so much and keep sending your questions. On 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 in 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 release is also known as pressure for bladder rich is the fear of Public Restrooms in most of the cases people who feel this drug in the restroom but rest assured restrooms not that dangerous and germs everywhere. Lets take a look at how they come into contact with bacteria and spread them around but when you bacteria hang out youre not every day surroundings on which species. And how many germs actually stick. 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 louisas hones to begin with the petri dish is used to collect the samples. Professor rania motors 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 this kind of louisa had 300. 00 so quite a few times more than a few for this market or maybe she didnt wash her hands properly or the towel she used to dry them wasnt clean up talk the talk of. What other bacteria will join those germs to find out the easel wont wash their hands for a while. The 1st candidates are lurking in the kitchen in sponges for instance. How long is this one going a nice. Or a 5 weeks its certainly never been washed. The direct contact test shows that the sponge contains gut and skin flora 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 them said youre going to see large numbers of germs on the seat of your skin flora but also germs that shouldnt be there lie. Acinetobacter high in other words someone sat here with a bacterium that could be a pathogen the coach transmitted in large numbers of it could cause an infection for 2 oscars and pencils meant perceiving your. Many people expect to file large numbers of bacteria here but in fact the germ load on an escalator rail is quite low. Something carts though are a different story there are often lots of classic human bacteria on the grip mostly harmless skin germs but also pathogens the cause diarrhea is just a clue luckily there were no pathogens on it often but you do commonly find them on shopping carts if they pose a hygiene problem because theyre rarely if ever cleaned him. Louises workplace is also a hotbed of bacteria the sample from the door handles show 400 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 at the toilet is cleaned regularly. Its a little toilets going to inspire fear but in this case there was nothing dramatic we 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 have it here to have. Risen 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 that causes lung infections in hospitals in immune compromised patients especially when its antibiotic resistant income. You either can wash their hands its a good idea to wash for 20 seconds after going to the toilet before eating and to try your hands thoroughly to keep the bacteria from multiplying. I personally can understand why some are afraid to be in the dark because you can use darkness as he. Can see 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 solus i know i felt this really strong drawl just pull 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. And 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. 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 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 woman i know how does she feel she moved 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 ne