LHON Awareness Day 2021

uh good afternoon or evening everyone depending on where in the world you were joining us from today i am kyra mann board chair of inp and ceo of mido action a leading us-based patient advocacy organization supporting those impacted by mitochondrial disease it is my honor to host today's el hon awareness event last year's inaugural event was wildly successful and i include continues to be committed to growing the way we support and collaborate with the global elhon community what a wonderful way to kick off mitochondrial disease awareness week this past year has been such a challenge for everyone across across the globe so how inspiring that we can come together and raise our collective voices share stories of hope triumph but also equally important to share the struggles so the world can understand the urgent needs for the mitochondrial disease community this year marks the 10-year anniversary of the founding of imp we are beyond indebted to imp's founder elia van der veer for her vision and dedication to unite the global mitochondrial disease community through inp she has been a trailblazer for our community and i know that i can speak for the entire community when i say that her work raised the bar for all of us and we are honored to be entrusted to continue in her spirit of collaboration in unity over the years imp has brought together national patient organizations from around the world facilitated international discussions about mitochondrial diseases led workshops for our clinicians researchers and pharmaceutical partners supported thousands of patients and their families worldwide and continues to uncover new ways for the global mitochondrial community to work together for the good of the patients and families through strengthening relationships with clinicians researchers scientists and industries membership in the european organization for rare disease and work with bodies such as the european reference network inp continues to make an impact on a global scale with a mission to increase the quality of life for people with mitochondrial disease by facilitating cross-border cooperation and collaboration among national patient organizations imp facilitates the ability to share best practices and move forward the development of appropriate pathways and management of mitochondrial disease we continue to be a bridge between patients clinicians scientists industry and policy makers all with the goal of the advancement and speedy development of treatment and cures no matter where you live in the world some of the most exciting initiatives include the global patient registry which will create a non-clinical data bank of mitochondrial disease patients across the world the registry will provide key insights to help researchers and clinicians better understand mitochondrial disease with the hopes this critical information will advance the development of therapies and ultimately lead to cures our cure mills research project aims to develop therapies for mitochondrial dna associated leased syndrome in 2019 imp published a quality of life study that confirmed that chronic pain is experienced by the majority of adult mitochondrial patients along with fatigue chronic pain is a core symptom which is often overlooked so currently a new quality quality of life study is underway focusing on everyday coping strategies for eight to eighteen-year-old mito patients and of course i am proud to lead the annual mitochondrial disease awareness week raising global awareness of this rare disease the challenges faced day-to-day by our community and the urgent need for increased research and therapy development as the primary liaison and support of mitochondrial disease patients all over the world with a focus on supporting families where there is no patient advocacy organization individuals can contact imp for support access to resources and services but most important sometimes just a listening ear when you need it most to know that wherever you are on your journey and whatever challenges you're facing you're not alone imp is the voice for our community as we communicate the impact of mido to the european medicines agency u.s food and drug agency and other authorities with the aim of impressing the urgent need for treatments and cures we all know that those affected by mido whether you are a patient family member caregiver or loved one can feel isolated geographically emotionally and socially with some forms of mido being desperately rare it can be difficult to find others with the same condition i am pre inp is proud to ensure that we stay connected with one another no matter where you are in your journey no matter where you live because together we are stronger and we are all in this together today we have an incredible lineup of speakers who will discuss the many facets of technology for the alhan community we encourage you to ask questions along the way and take an active role in the conversation we will do our best to respond to as many inquiries as possible as we move through the presentation so to get us started please join me in welcoming imp board member paula morandy and one of the key leaders behind today's program paula is also the mitochondrial eye disease patient representative in italy for metercon welcome paula thank you thank you so much kyra many thanks to imp for the opportunity to uh to host the the very second lhon awareness day why why do we want to have an lho and awareness day the the idea started about five years ago in barcelona spain when a group of european patient representatives lhlm patient representatives got together and started talking discussing uh about the idea of uh raising awareness on lh1 lhon is still so very much unknown it is an eye disease that starts in the brain it starts with the ganglion cells where the optic nerve is attached to the retina and the mitochondrions begin to die first they fall asleep and then they die i have been affected myself for 30 years this year and in the last 30 years i've seen so much change especially in the role of patients patients are now at the center of research we patients patients associations patients groups patients organizations have an active role in research in rare diseases and an lho and in particular we definitely need to raise awareness because there are many other eye diseases there's a european reference network where over 900 rare diseases are representative but very little is still being said about mitochondrial eye diseases so this is really why we have we have talked so much about having a an lho and awareness day and last year was the first one that inp so kindly hosted for the first time the theme last year was in fact diagnosis and therapy because diagnosis is still not uh early enough there's still a huge problem in in diagnosing lhon it is often misdiagnosed as a multiple sclerosis or a brain tumor or something else and today we can say that we are going towards a cure or going towards prevention uh there is a drug that is that can be taken in italy it needs to be taken before the end of the first year since uh set off of the disease so it's very important to have diagnosis this year we thought that the theme would be the importance of technology for lho and patients because technology really makes a difference if it weren't for technology i wouldn't be able to do all the things i do today and many students wouldn't be able to study many people wouldn't be able to work technology is extremely important and i'm really very proud to introduce to you an expert in technology and who is also himself affected by lhon we have with us today mikhaile landolfo from the cavazza blind institute in bologna mikhaile and i met about three years ago when with mitakon the italian mitochondrial disease patients organization who's also a member founding member of imp uh i went to bologna to visit the cavazza institute and um and i met michele who is in charge of the um visual uh devices for blind and low vision patients and when he first met me he asked me what what i was affected by and i told him i was affected by lhon and he said me too and and this really started a a new friendship so uh everybody uh here is michele landofo from bologna to you michele [Music] misenti [Music] um okay i'd like to greet everybody to say hello to everybody in particular to the international meet to patients community the association the federation that is hosting all mitochondrial diseases to today for me it's a great honor to be here with you um okay today in this italian afternoon i don't really know what time it is wherever you all are we're going to discuss about the importance of technology for lhun patients your [Music] so i became affected when i was 17 which is exactly 17 years ago i've now become chronic when i become when i became affected i was right between my third and fourth year of high school if i hadn't had jaws and screen readers i wouldn't have been able to graduate from high school essentially therefore technology is extremely important for anyone affected by an h1n if you studied before it is possible to go back to studying and if you work it is possible to go back to work whatever job you had [Music] [Music] okay so michele was saying that uh actually he went for a long time without uh meeting anybody with lhon i was actually the first person that nicola met with lhu and he was very surprised and um and it really changed his outlook on on things now he's working with technology and helping people continue with their life okay so i'd like to start with a simulation those who are affected by electro and will understand but those uh who maybe assist or live with the person person with lhon or maybe somebody who's just curious to understand a little bit more about electron can follow through right now we are looking at the center of uh tokyo we're looking at the center of tokyo [Music] hello central a special application that simulates uh central scotoma it is actually an app that is supposed to show macular degeneration but the result is more or less the same because there is a central scotoma as you see the centroscopic gets larger and larger perhaps i'm exaggerating a little bit but you can get the idea of what it's like to lose your central vision uh b to vision you lose the capacity of reading writing and even pointing your finger your focus on a central object that we lose that focus because we're losing our central vision autonomy in those patients where the central scotoma is so large that you can lose focus you can lose your orientation and ability to move around and in those cases then you have to use devices like white cane and so on is special devices that are covered by the italian health system and these are devices that can be useful for blind and low vision patients for totally [Music] video enlargers they can be of different sizes and they can be portable or desktop and they can be they can enlarge up to different amounts of other devices that allow us to use the peripheral residue whenever we have one and other devices are screen readers display braille also very important especially for those students who have to study languages music and maths simplification there are ocrs and other reading tools that allow us to read the printed materials such as brochures business cards and so on what you're looking at now is a video enlarges that is usually between 18 and 25 inches in widths and uh it can enlarge up to 10 20 30 times and this is usually useful for lho and patients who have a pretty good visual residue peripheral residue compression systems like this one that also include uh screen readers so that when that person is tired of forcing his or her eyes they can turn on the screen reader and listen to the to the voice synthesize [Music] looking at the desktop enlarger i'd like to show you a portable enlarger the advantage is that you can carry it around with you in your pocket or in your handbag but the disadvantage is that the screen is actually only up to 10 inches in in width and so it's a little bit smaller automatically [Music] so you can actually wear on your glasses and it can it's a computer it recognizes objects and things and reads out loud the things that are around you that you point your finger at this device can be worn on your glasses but there are also such devices that you can use and as desktop or portable ones [Music] um a the next device i'd like to show you is a braille display in bologna we like to uh suggest this this device using braille at a younger age so if you lose your vision between the ages of 8 and 12 it's a good idea to learn braille it's good for studying at school but if you lose your vision when you're older it's a little bit more difficult [Music] the technology talk about assistive technology by assistive technology i mean everything you have in your pocket like like a telephone or a computer on your desk sure we have on the left we have a classical pc and on the right we have a okay so on the left in the computer we have um a screen reader uh we have an enlargement system uh and we have um i think you said ocr technology and and voice synthesizers okay um [Music] um i like to show these two slightly slice these two different pictures to highlight the difference they're basically the same but um in a computer we have a we call it a keyboard and it is very important to know how to use to know how to touch type in italias the importance of using your ten fingers so touch typing because this allows you to keep your concentration on your device generally your tablet too actually can have a keyboard an outside keyboard but usually uh they come with a virtual keyboard and uh the majority of people with uh no vision or with low vision tend to use it uh with dictation [Music] smartphone android and the iphone intuitive dispositivity apple and in all computers in iphones and android and all apple devices a i in all devices that have been put in in commerce in uh that have been produced in the last few years are equipped with uh accessible voice synthesizers [Music] watch the apple or smart watch or a samsung smartwatch have a voice synthesizers that allow low vision and blind people to use them um on the screen now you have three different movements motions that allow uh people who use voice synthesizers to uh [Music] [Music] case of the dispositive android so sometimes with uh when a voice synthesizer is present this is the only way uh to use your uh your device so i strongly advise to even even people who have a pretty good a pretty good residue visual residue to learn how to use voice synthesizers which are voice over or talkback um because it's very important for you to know how to use them [Music] voiceover a course in bologna and i was able to teach an 82 year old man how to use voice synthesizers and how to create his own playlist and classical music and now he sends me his own playlists every time this is a classical in enlargement on an iphone which i've enlarged uh for a hundred percent up to 100 usually you have four columns in an iphone and when it is enlarged so much you can only see two you can see here it's a color mode um it's changed from the dark mode this is for people who are very sensitive to white light um you can go it's not necessarily all dark when you go in color mode but you can make the the screen darker vista [Music] we have talked about you can find under and accessibility uh in your phones i strongly suggest that you go and take a look and find out all the things you can do [Music] an ultra category talk now about a different category which is very useful and very fashionable in the last few years voice voice assistants questions [Music] uh silicon valley this technology uh was actually uh started by apple and then taken over by amazon and it was actually um started for people with mobility problems [Music] custodial okay i have here we have three families uh who are very very common echo echo dot and echo echo echo [Music] i believe they're called next before they were called google home my phones have the voice assistant called siri which is installed in all devices [Music] voice synthesizes we can really do lots and lots of things and it is also they're also very useful for elderly people in italian [Music] smartphone some phrases that i have translated one of them which is very useful questions that you can ask siri for example are one of them is for example where exactly where you are and this is very useful in case you happen to not to know where you are it is then you have the standard questions such as what time is it or you can use the timer or you can ask a siri to take you home exist this is one of the technologies that is uh very popular here in italy probably because of uh the the the large number of um elderly people in in this country and because it is so easy to use so many people use it for uh just one with one command you can call one another you can call somebody in your family smart [Music] screen reader about smart devices and we certainly have to talk about smart tvs which now come with screen readers that read you everything that is on the screen for all those who don't have a smart tv it is possible to use all those devices by or amazon that can turn your tv into a smart tv [Music] the domain of voice assistance we can talk about dramatics [Music] while some time ago it was considered a luxury available to only a few uh now thanks to the giants in silicon valley uh it it it can make your your house smart and available to everybody [Music] in this slide we have a thermostat which allows us to uh to to check the temperature and to supervise our temperature thanks to our voice smart [Music] for example there are also smart lead lines and you can also control them through voice your voice uh this is not just for controlling the lights but also because many people with low vision uh are very sensitive to certain lights and in this way you can control the amount of light that you have in the room uh finally other devices that are becoming smarter and smarter are things like washing machines dishwashers that one day will be totally controllable through voice we can see that there's a huge world of applications and things that we can do through our smartphones what we need to keep in mind is is that regardless of our vision problem if we learn how to use a smartphone a computer this can open our it can open a door to to anything we can do anything we can study and we can work with slide monster applications facebook netflix and what's up justin i'll show you some of the applications the main applications that are used by visually impaired people like spotify kindle and so on [Music] there are also specific applications that are used specifically by people with vision impairment um microsoft disposal amongst these we have the very famous thing ai which was developed by google and it is available for iphones as well and the other one is microsoft lookout verso el contrario sing id microsoft google lookout google seeing eye microsoft and lookout is by google applications recognize text to recognize money color [Music] a great thing about this app is that they they allow you to do instant reading of a label so you can do in real time basically an application an application that was developed by a young person a young man in bologna and it it's used to recognize buses but also it tells you exactly what time the bus comes so that you don't have to wait for the bus to unity pennsylvania [Music] another app that was presented in italy in may and i believe in the united states last year is soundscape which allows you to see to to to know basically not really see but to know everything that is around you [Music] okay i'd like to in the very last slide i'd like to speak to you about two technologies that are not available here in italy yet i presented them uh during the italian presentation for the lho in awareness day this morning um and here they are okay system auto autopilot first one is the tesla self driving um that will allow you to go from one place to the other ela uh and the second one is called increased reality which one day through glasses special glasses will allow us to uh to see interrogative imaging and the third slide is a question mark because i would like to know from you what technology is still missing what needs to be invented what could be useful to all of us and with this i'd like to thank all of you for uh forgive me this great [Music] thank you both so much we had two quick questions that came in that i'd like to ask before we move on to our next speaker first question is what is the name of the app used to simulate vision uh the app is called i see and it was developed in the city of macharata in italy okay great thank you for sharing that and then the second question is what is the name of the portable device held on glasses that can read text and read um there are two devices available at the moment and one of them is called orcam and the other one is called is called envision glasses perfect thank you so much mikhaili for providing all of this incredible information he is going to hang around and be back for the q a at the end of today's event and paula we will have you coming back joining us in just a little bit so we'll see you guys shortly the next round of presenters will share their real life experiences with el han and the technology options they're using to live a full and productive life again please be sure to ask questions throughout the presentation please join me in welcoming krista indy christa thank you so much for joining us today krista is from sweden and is a low vision therapist and an expert in residual vision technology it took 30 years for him to receive a diagnosis with elhan after developing symptoms at 19. in 2003 he wrote a book called bad feel good a handbook on coping with the trauma of severe visual impairment krista can you can you share with us the importance of accepting having low vision and how that leads to the acceptance of the use of devices yes i i would love to um can you hear me can you hear me yes we can hear you great great well um my name is inda like in the english word in the mood um but i've not always been in the mood because when you have a visual impairment you lose something very important and you can reach the bottom of a moody stage which is called bss which means bitterness shame and self-pity and of course you have to grieve and suffer from the hardship of losing something it's it's the same reaction as when i lost my brother in april you have to adjust to the feeling of loss and how to overcome that one main point is to know everything about your visual impairment it's like meeting a person you don't know and you don't like but if you get to know him or her perhaps you can start liking him or making friends with your enemy so if you come up to a person who has just come to the low vision center of the low vision clinic and you start to give him or her devices you are big be doing a big mistake because first you have to assess in what psychological stage this person is in so that's why we have in the swedish lho1 eye society organization a person who is a psychotherapist who has lhon herself and she's been working 30 years with with psychological problems of vision loss so she's a perfect person to start with if you want to use devices and also i'm very provoked by persons who talk about low vision persons as if they were blind i always talk to english or american persons within the field of low vision when they called me legally blind perhaps i am it's a legal band from an insurance point of view but i i still call myself illegally sighted and i want to use my vision as much as possible and then i have to train it but before you can do that you have to overcome your psychological issues how do you do that in in my book vedoma le massonne felicia or see bad feel good or sh good feeling i've tried to say that the four steps are first to have a good family around you or friends who say that you are as good now as you were before this the second stage is to meet yourself or others in your same situation in the same situation i would have loved to meet myself the the way i am today when i was 19 and had my visual impairment um to have road models and that that's why we create diagnostic groups the third step is to have professional rehabilitation team around you because the eye doctors we don't need them yet because they have no medicine or cure or therapy for us unless they are very nice and warm-hearted persons like some friends i have that we cooperate with and the fourth step that is the step of assistive technology and devices that can help you use your vision or your hearing what i always tell persons is to join the movement called people first i'm not a visually impaired man i'm i'm not a vip um in that sense i'm a man with visual impairment the the man comes first and i'm i'm still the same kind of man even if i read very closely and i i read with my nose holding the text one inch in front of of my eyes and i look above the text and i move the text in order to see that it says wherever whatever whenever i have said to myself that i will never feel ashamed of my devices so that i use them wherever whatever whenever i need them because no one else is forbidding myself to use visual devices but myself there are no signs on the trains in sweden that says it's forbidden to to read closely here and not not very men many persons come up to me and say does it smell well i think that the use of iphones and and technology like iphones is used as telescopes today because they look normal and you want to be normal and all the apps you have there is is a way of being one of everyone but i tell you that i think that if very many more of us use technology that is not normal then it becomes normal in the sense that you you are a visually impaired person who is smart enough to accept devices and and the things you need from the morning to tonight is different from different persons with lhon in sweden we think that we are around 150 up to 200 persons in denmark they know for sure they know it's a 104 persons but we don't know yet we have just started the lson registry for research today we have 66 persons and 51 families among them i believe that around 90 85 to 90 percent can use their vision in a very good way by using eccentric viewing and we we made an app called exfix.se in english in swedish so that you can train using eccentric viewing when you have come to the stage that you want to be able to use your residual vision instead of looking into your central scotoma so stop looking into into your centroscotoma and use peripheral vision because it works sometimes um persons complain about that they see things that are not there as as you know it's called charles bonnet syndrome and of course that's a nuisance at least in the beginning i i would say that in some cases it takes like six to 12 months until you have a constant vision that you can rely on then you know what you have left so perhaps you you have to wait for up to six months to start to use um glasses for magnification and for magnification you can use glasses up to 10 times of magnification then and in combination with high magnification in glasses you can use closed circuit television systems and and zoom on your iphone but you know you start the morning by putting your body uh talking to a person in the scale in the talking scale and i don't like her very much because she doesn't tell me what i want to hear about my weight and and did you then you go on with the speech outlet from miss cyre to tell you what time it is but you can also use your glasses so um if if you are a person who has accepted your visual devices then you bring them along we had last thursday eight persons sitting in a classroom to become lhon ambassadors of sweden from different parts of sweden and it was very interesting to see that three out of eight used telescope to see the power points of the eye doctors who were telling us how not very far research has become yet so i i started to ask each one of the five persons why they haven't started yet to use telescopes or the camera on on the iphone if they wanted to look more normal and the answer is i'm not i'm not there yet so my simple advice is to [Music] find all kinds of devices use your vision and if in very few cases lhrn patients should learn to use braille that's my opinion because i was taught to learn braille and use a white cane when i was 19 years old because the professionals didn't know better they were either teachers for the blind or teachers for the sighted but today we are teachers for low vision and we know that persons who suffer from a loss has to overcome the loss before you can lose your imagination get peace in your soul and then start the old life again in a new situation thank you those are why wise wise words krista and i think what's most important out of it is low vision is what you're dealing with it's not who you are um and that's a really important message in moving forward and bringing the devices into your life to help you adjust so we appreciate your wise words we thank you so much for joining us and we look forward to chatting more next time thank you so much thank you yourself okay so next up we have leo stunning summer from germany leo is at university and he's involved with the l hunt society in german germany leo thank you for joining us i'm going to pull you in leo are you ready to go i'm from germany there you go hello can you hear me am i i'm listening here can you hear me now we can hear you okay perfect thank you very much um so yeah i'd like to talk about mainly three accessibility devices the first one i use myself and the second and the third one are more specifically for use when you're completely blind i myself um i have a provision of three and seven percent and as um the previous speaker i think it was christa um already already said i think he has a similar vision and i am using zoom most of the time um so the first device i'm going to talk about is called the vizio book and it's a portable magnifier and um i'm going to try to share my screen with a with a video on it um in a minute basically what what it does can you see my screen yet can can someone tell me if if my screen is visible already i don't think so um anyhow um the the video book is a is a portable magnifying is the the connection lost yeah we just just lost your screen yeah okay that's okay um would you like to try again or would you like to i'm gonna try again can you see my screen now yeah okay here in just a second god dang we can we can see your screen now but but just now right you can't you couldn't before when i was in another program is that right yeah we can we see a blue screen but but you couldn't see the other programs i just switched to right and the only thing is a blue screen okay um never mind um i will i will post a link and then um you can you can uh send the link to to um to the page where on facebook or something anyways um basically it's a it's um a device that you can fold up and then it's about the size of two laptops it's about the thickness of two laptops and it's about squarish um and it's like about six uh 3.6 kilograms so um

and it's a portable cctv and the the special thing you can do with it and that i don't know any other device that can do that as well as the vizio bookcan is using it on your lab so for instance um i was in a choir and we had our song books and i could just put them on my lab on the on the video book and i could um read them just like all the other participants so how it works is um you have like like the the bottom part and then you fold the part um the upper part you fold the upper part up so that it's basically a v shape so like a v that's on the side so um that it's open to one to one side the side you're sitting on and then the um the plate you you just pulled up and the one that is um like like building a triangle and it's uh sticking up you from from that one you pull out a screen and you can pull out the screen right in front of your face and front of your nose so that you don't have to um crunch down so you have your screen up like if you had an external monitor with a with a great uh sort of arm or something and then um you have a camera behind the screen on a separate on a separate thing and the camera can either point down so that you can read a book or anything else and you can also write underneath there with your like handwriting traditional handwriting and um you can swivel the camera around so that it looks right ahead of you so basically that's useful for situations like in a classroom when you want to look at a whiteboard or flip chat or something like that and you can zoom in there just as well as when you're looking down with the camera and you can even swivel the camera all the way to the other side so that the camera faces your face so that's helpful for um yeah makeup or any any facial hair or something like that i don't use that all that too much but um basically the camera pointing down is the the main use case i'm using that for and you can fold up the video book in about five seconds and pull it out and fold it up in about five seconds so it's very very mobile very reportable and i really like it so basically that's the gist um the other one of the other products is the laser cane and my video book is currently away so i don't have here to show it but i think the the the link that i would show that i will send and i'm currently even producing a video to um with a visual book that's coming online a few months so either way you will have some some material to look at um the laser cane is basically a usual white cane with a different handle the handle has a laser in it as the name says and the laser is pointing about 90 degrees up from the cane so if you if you're walking with the cane as you do um the laser is pointing towards the area that your upper body is facing and the handle of the cane of the laser cane is vibrating as soon as it detects an obstacle so for instance if there's something like a branch hanging over the over the sidewalk or like windows sticking out or some some sort of poster or i don't know you can imagine different things that hang out or like a door of a of a big truck or something um and you know that it's there before you run against it but you can also use it in very creative ways for instance people walk in the middle of a corridor and and tilt the the cane to the right and to the left and if they and they can feel how far it's away so basically you can you can set the parameter the the meters that it should like the sensitivity so you can say if it's two meter away it should vibrate or you can say it's 550 centimeters away and it should vibrate you can set it two meters and then to me two centimeters intervals and the longest is four meters so you can even find some traffic lights or something if you know i'm on a i'm on a huge square and i'm looking for something that is sticking out from the bot from from the ground and i know oh i'm gonna have a look what is what the k n is finding in my parameter of four meters um but very different use cases um right i'm probably also linking a video for that so another one is very simply very simple to explain it's the fame that is the abbreviation for fab mesquite and that's german for a color recognition device that says the color it doesn't really make sense to show it now because it's in german but it can also show you in a sound what the light is so i'm going to demonstrate it so there's a light in the in the ceiling and if i if i go down on the on the table they the tone gets really low so um yeah if you don't if you don't see anything it's so useful to find out um if the light is on or where the windows are and stuff and for instance um i really i have a use case for the colorway condition myself even though i am i still have a vision um and that's for instance for sorting socks because they're very very similar the color and um the device the fame can tell if the colors are the same or they're different of the similar all right thank you so much leo i know that you have a lot more information and device details that you'd like to share so we'll be sure to collect all of that information from you and we'll share all of the information and the links when we post um the follow-up to this to this presentation so we appreciate you being here to share and we will definitely be sure to connect with you so that we can share everything we didn't have enough time for you to bring to the table today so thank you so much leah appreciate it thank you so much for the opportunity it's an honor thank you thank you okay so next joining me i have anna velosa anna is from portugal and her son was diagnosed with el han while at school she is a strong advocate for al haan patients in portugal hi anna it is so great to have you with us so tell us about your son tomas can you not hear us anna i can hear you if you start speaking we're going to give anna just a second to log off and to log back in and we will have again we have lots of great information to share today some of it we aren't going to be able to get to oh there we go we've got some feedback there so anna if you can hear me we'll wait for a second for you to log back in if not oh there you are okay let's bring her back in and see if we can get that to work and can you hear me now there we go welcome welcome thank you so much so if you could kick us off and give us tell us the story in the journey about your son tomas yes yes okay sorry because so if you could kick us yes okay uh so thank you thank you for the for for this opportunity to to be here i'm okay you are hearing me well can you hear them yes thank you thank you [Music] i'm speaking from portugal is it okay is it okay now i i have a i have a big problem with the with the sound i don't know we can hear the presentation repeating in the background so let's do this let's you know we'll pull you off and we will move forward um with our next paper i think it's okay yes i don't know what and if you can hear me if you can mute yourself that would be great okay so joining us now is ilyan sure i completely mispronounced that so i apologize um she works with me great okay so i think gilian is we've we've lost her as well so why don't we do this um we have a recorded video i'm not sure uh hello i am it's a great it's a great product okay these kind of tools they will be accessible accessible for for all members and the name of the first is medicamento accessible accessible treatment in this case uh you can find good information about your personal treatment only you have to take a photo uh in the queue or call it um in a few seconds the screen reader of your application tells you uh the characteristics um the key information about your treatment is an excellent application well the next the name is i have low vision this date is very important more than 240 million people around the world have low pcm uh this application is very important for for for this date and it's important too because it was great for retinal dystrophy people in a big organization at the north of spain exactly a paisbach with this tool uh with this tool you can learn about learn number of visual disease you can also find here rare opaque optic disease to learn about the characteristics of these pathologies and you can also find information about lho and yes well electron is here in tango basin i have low vision there is a particular tool in this site you can find a simulator and you can live with this condition you can see different pathologies in the big or large directory and you can use the simulator for for no which is the the condition of this the with this rare disease or general pathologies okay finally thank you so much for your time for cooperation and for your attention is very very important in these days i congratulate you on this second lh day and we will touch when you want pika for you best regards in spain bye-bye okay we are excited to have that video from pedro while we try to work out some of our technical difficulties so we are gonna try and go back to anna and i'm gonna bring you in and let's make sure you can see can you hear me yes and you there we go okay no worries what's a presentation without some glitches right it's what we're used to just and keep moving forward so can you tell us a little bit about your sentiments well first first i would like to thank imp for organizing this event it's such a pleasure to be here and and i'm really glad to participate in this event i'm from portugal and i have a electro and young boy he's called tomas and our journey through to lhon started in 2016. he was 15 when the first symptoms of electron appeared tomorrow it will be five years um and tomas had the perfectly normal and current life of a young teenager in his 50s he he was studying practicing several sports etc but perhaps regarding his rehabilitation into his new condition as a as an hoan patient he has had an advantage um if we can put it like that um because he was born in a techno technological sanctuary um i i heard chris christer in the uh speak and uh i'm i was so glad he he told us uh so many things i need to i i i understand them well because when my son was diagnosed with deliciousn at the hospital he was given the the only advice that was to learn braille immediately and um and they they thought they they they thought they thought they they told us that that was the main solution for him um and uh within these these five years uh of of coping with alleged land and trying to help our son we understood that while for some electronic patients uh not not to everyone can be seen only as an extra tool not the main tool so this is a point i would like to tell and and also that each patient must be seen as an individual with his personal needs so uh when when when tomas was diagnosed with electro when he school was was starting it was september and he was going to into the his second year in high school and um he was the first lhon student on that school but we wanted him to continue studying and attending classes at the same school with the same friends with the same teachers but at first we didn't really knew we didn't really know um what he was going to need because everything was new to us and and also the school was not prepared technologically uh as the books for example was were not on a digital format nevertheless the school accepted the challenge we worked together and classes and evaluation were adapted to him with many oral evaluation more time to do the exams and he managed to finish high school without failing and was admitted to the university three years ago that's fabulous so can you can you share with us about those initial conversations with thomas's school regarding accessibility and his needs and you know what were you know if you could go back and give advice to another family that is preparing to have those conversations what is it that you wish you needed to know what would you share with other families about how to prepare for those types of conversations with the score yes one thing i i i one one thing i i find it's important um to say is is that um as this this rare disease didn't come with an user guide so we we we are working with we did on a daily basis and we we try to understand and figure out the needs and the possible solutions for tomas um within time and uh and that and that's it's a process uh it's still a process of learning uh after this this five years um and the second thing uh is that we have to to we have to to to understand that the the electron symptoms and effects are very different from from from patient to patient and uh each each patient and each person each lsu and person has to try the best technological tools which enables him to to complete everyday activities so when we we had that those conversations with the school and then with the university uh we we make we made it uh like a challenge to everyone um at at high school it was uh more difficult because for the the books were not in the in the in the digital format at university it it has become more more easier because um everything is digital and it is more easy to for two months to follow classes and study i think it's it's a matter of of of of speaking with with each other and trying to to reach a um consensus of what is better for for the for the students now he's studying um at university like you said uh for for three years he's studying marketing management um he studies with two devices a portable computer and an ipad and those and of course using the magnifier software and the voice assistants but nevertheless being part of a generation who uses technology all the time it has been quite easy for him to adapt uh writing and reading on a computer and uh and using the zoom nevertheless it as as as all electron patients now it requires a great physical effort and of course he has also developed a lot his memory his hearing but um his fight is to continue using uh his eyes as possible as he can so that's the reason i thought i i told um on the on at the beginning that brial cannot be seen as the main solution because though this these patients like my my son he wants to use his eyes as as many as as he can um if if i may cover just just just uh just tell a a curiosity related with the pandemic okay on the on this past two years uh all students came home to study and uh to have online classes so um this this is curious because for the first time uh all students were at the same level as tomas having to hear classes having to do to do written examinations on their computers so the pandemic was a way of matching all the students at the same level as too much that's that is quite curious that's wonderful yeah and you know krista talked about the normalization of using these adaptive technologies and one of the great things as you said you know all kids are using them it's the age of technology and it's the technology is such a part of their lives and so for the alhaan patients the young adults the teens um it doesn't create them as an outlier right because they're they're using the same technologies with some adaptations um that everyone else using yes yes one thing i find i find i find very important to say is that when when a young boy is diagnosed village with the lhon the devices which which help him in everyday activities must be inclusive must be common to all students to all of of his friends and that's an important matter for my son um of course of course all the devices had had to be uh had had to be put chased by us because we had no support from the portuguese side so um we had to we had to to to purchase everything yeah well i'm so glad that he's doing well and he's at university um and we look forward to hearing more about his successes so anything else that you'd like to wear having having this opportunity to to to talk about about my son and and my experience as a mother i would like to to to to to tell you two important lessons uh i have learned with within these five years first and perhaps the most important lesson is that we are stronger than we think and that our life depends on our attitude and decision and when we face a diagnosis like uh lhony's is very hard to to all the family but it is not important and that's that's has been proved by the number of things my son has achieved during these past few years and the second lesson is that as christopher indy told us the family must keep united and active learning to be patient developing creativity and having help all the challenges uh in dealing with that with will with the alleged when within the family will give us nice opportunities to stand for and fight um of course technology uh cannot be replaced by the love and caring of the family and that's the most precious support uh these these lho when patients need um so it's it's we have to go on i appreciate that and you're right it's the love and support of the family and the community and that's one of the things that imp is so honored that we can be here to uplift the members of the lhon community as you're making all of these transitions and making adaptations and trying to figure out how to maintain independence and live the best life that you can live right because as we talked about ellie joanne doesn't define who you are it's just something that you're living with yes absolutely thanks and before we sign off can you tell us so last year inp produced an lhon brochure which is available in english italian and german and i understand you have translated it into portuguese can you tell us is it available when will it be available yeah i hope i hopefully it will be available in the on the mp imp website in the next month okay i hope that is wonderful anna thank you so much for sharing and being thank you and sharing thomas tomasz's journey and your family's journey we appreciate you thank you imp and cairo for helping us over this event and i also would like to to thank uh very much paula morandi and for being our spokesperson in the european uh lhon group thanks paula yes kudos to paula always thank you so much take care talk soon bye okay okay up next sarah knapp from the us will be joining us sarah is completing her master's in assistive technology and will share with us about the jaws in combination technology so sarah we are going to bring you on hi sarah how are you hi bear i'm well how are you good can you hear us okay i can thank you so much for having me on today it's an honor wonderful so sarah tell us about your first um you first found using computers difficult and stopped using them for a couple of years tell us yeah tell us about the journey of accepting the need for assistive technology and and how you're doing and and you're thriving yes so when i first began my journey with assistive technology upon diagnosis i just increased the font size on my phone and used magnification for a long time um and i found i was very limited in what i could do on even just my phone and i couldn't use my computer anymore at all i was luckily hooked up with a an organization here in maine which is in the united states called the iris network and i received some training to begin with with the zoom text and what zoomtext is is a screen magnification program um that will make the screen bigger and it does some speech with it as well and i i thought that was enough but using the computer was so straining my eyes couldn't handle it for very long um and then i put down the computer for three or four years i didn't i didn't expand anymore upon myself and i didn't work for that time either and i found the bridge back to working through learning jaws with fusion software so jaws and zoomtext combined where i set to use my computer i have a large monitor i have it zoomed in so that i can see about a fourth of the screen to maybe a third of the screen at a time and i use those jaws keyboard commands to read what's on the screen and i've become tremendously efficient with it um to where i believe i can keep up with my sighted peers um which is not somewhere i thought i would be sitting uh with a visual impairment but it's it's it's come a long ways and as one of our previous speakers had said i think part of it was the acceptance piece uh i didn't think i needed a screen reader uh i can see well enough to see the screen but the truth was i i really wasn't doing it to the the fullest capacity that i could so went through this journey explain to us exactly how the jaws software works so it it it reads out loud to you what what you're saying on the screen is that correct correct so um for example on a simple google search um you can use keyboard shortcuts to read just the webpage headings by pressing the letter h it will read out what that heading is what the headline heading is and then you can use your arrow key down to learn more information and if that's not what you're looking for press the h key again it'll read that heading um and then the arrow key down and it'll read lower and lower and it can there's other jump commands if you want to just go to different links or if there's a table you're looking for you can jump all over that that website um to find the information that you're looking for so share share with us about the impact on your life now now that you've been able to come back to the computer you've gained your independence and being able to navigate that and add different aspects of your life tell us what that has been like for you it's huge um right after i began getting assistive technology training the company i was getting training from offered me a job to become both a vision rehab therapist and an assistive technology instructional specialist and to get both of those positions i'm currently getting a master's degree from the university of massachusetts boston um so i'm going back to school i'm well i'm in school i'm about to finish up in the next year here um and i'm i'm able to be a student with my assistive technology well and how amazing that you're able to take a field that has meant so much and impacted your life so significantly and focus on that is your career which is amazing it's a beautiful thing to work work with my own kind i like to say and i love telling personal stories with my clients to to to help them see that it took me a while to accept it too i didn't just pick up my iphone and start using voiceover um that's not how that's not my experience it took a while for me to to fully experience what i needed to for assistive technology to be as easy as it could be yeah and do you talk to us a little bit about the period where you hadn't moved forward with with the assisted technology and you know i think about today right now right if we don't have access to our computers every single day we don't have our phones where we're texting and we're interacting with people it's almost like you're you're out of the loop right you're not functioning talk with us a little bit about what that period was like and what the turning point for you was and saying okay i need to make this change uh at the fear of sounding super dramatic it's like going from the darkness into the light because i wasn't able to work um and i have um i now believe i have a lot to offer as a person to society and at the time i i didn't i didn't believe that i thought that i i couldn't work um and that i i wasn't able to work you know and now being able to contribute back to both my community and um other people with visual impairments has really just changed my life in such a positive way uh that sense of of fulfillment i get from from working again is tremendous absolutely and i think you know again back to what we've talked about in so many of these presentations today this is not who you are right lhon doesn't define who you are it's what you're living with and you've made the decision to take the challenges that this has brought to you and to turn it into empowering not only yourself but others who are dealing with similar things which is commendable so we we are very proud of you um and we thank you for giving your time and commitment to think about everyone else and how what you're doing and the lessons that you've learned can help others it's really empowering and you should be very proud of yourself thank you so much it's been a night thank you so much for joining us any any last words that you'd like to share before we sign off um i just want i know the first thing i heard when i first became affected was a person in a video online that had lhon in like and he had like one friend and i was like oh my god he has a friend that's great um like i thought that was a big deal but you know today i have such a full life i hike mountains i'm married i have a six-year-old son and i have this big beautiful life so um the diagnosis is not the end of your life that's right right absolutely thank you so much for sharing and and empowering and giving others in this community the hope that they can have a full and productive and a life that they can help others and so that i commend you for that so thank you so much for sharing thank you take care sarah talk to you soon okay okay joining us now we have elian ed cartel which ilian i am so sorry already if i did not pronounce that correctly um she works with inp member loh lhoni association in the netherlands and she will share with us about the app she's using to help her daily activities so ilyan i will bring you on and we look forward to having you share some great information with us hello how are you oh you're muted there we go now we can hear you can you hear me now i can hear you welcome thank you thank you it took a while to get in but i'm here i'm glad you joined us thank you so much thank you so if you will open up and just tell us a little bit about your journey with lhon um yeah well that journey started in 2013 where i lost my vision quite rapidly not knowing what was going on it took about six months for the diagnosis and like sarah said it's not the end of the world but you know you pretty much go into the morning process which takes years sometimes and you fall down you get up and you move on um that's pretty much it in a nutshell i haven't used a cane for the first seven years and uh me and kane are now friends so okay made some progress there yeah well that's good well share with us a little bit about some of the apps and the technology that you have found to be helpful in your day-to-day journey yeah um i was just like sarah i was working with jaws previously but i couldn't get around with it and it was making me extremely tired so here at the national institute for the blind you suggested move on to apple and use all the apple devices so i did you know i got an ipad iphone i have a google home to assist me to make my house a little bit smarter and on my phone i have all these apps for instance how to use terrain over here in the netherlands it's quite common for people with a handicap regardless of which it is to use taxis it's sort of like an uber except you share it and uh it's quite a bit cheaper so i'm not too much into the trains but if you do use the app it tells you exactly where you need to walk uh how long it takes to get from a to b and even how much it costs so that one's quite handy um also due to the fact that i live alone and like to be as independent as possible i have an app where you can see which store or restaurant is um is accessible as in is there a bathroom is there good enough lights do you have to go upstairs downstairs very handy um i have an app that tells me when i need to take which trash out amazing yeah that's very important per second the app that you use to determine accessibility in restaurants what is that app called well of course it's dutch it's called unhindered which means basically such as something like no limits you know as in there is still limitations but it's also for theaters um when you want to go to your theater do you need to go upstairs is there an elevator to me it's extremely handy however it hasn't been updated in a while so that you got to pay attention to okay and then i'm really interested to understand about the rubbish do you have to buy because like do you have to buy special cans or how does explain to us how that all works well the the city the one i live in it's actually not a city it's like the boondocks but um they provide you with three cans one's for plastic ones for paper and one's for what you call rubbish okay um what i did is i attached a little string to each one of them because they have different colors which obviously i can't see now on wednesday night i open the app and it tells me take out the green gray or purple one okay so there's never any mistakes you know there's no smelly trash or plastic sitting here for weeks very handy i love that i love that so tell us if there if there was one piece of technology that you just absolutely couldn't do without what would that be oh well piece of technology that would be basically my iphone that the whole technology is in there and me and google assist are are pretty good friends now too i come downstairs and tell to turn the heat on you know whereas before it used to be like hotter than crap in here because i couldn't see yeah i was trying to count you know one two three four five i was like oh it's good now and somebody would walk in the room say good lord it's like 100 degrees in here so that is something i can't do without i can't live without siri and pretty much everything that has to do with apple yeah so tell us how google assist works do you have is it is it an app on the phone do you have devices throughout your house are you know i have a small device that looks like a donut i mean you can expand it to google nest and what's connected to that is my lights my television my heat my spotify what else is connect my front doorbell i have a ring front doorbell okay uh just to be safe you know uh i don't do you know what ring doorbell is just a scaredy cat at home and i had to spend five days by myself and my husband i had my husband put one on our front door so yes i have a ring too okay okay well i'm not sure if that's an international thing but it makes me feel very very safe you know i i speak to the person who's there and i usually don't open like i said i live alone because my husband passed away and so that's also connected to uh my google home okay t

2021-11-15 19:20

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