01:04:27
Transcription:
[00:00:00] Mr. Oskar Ahlberg: Okay, I guess welcome everybody to this online course on the approach to patient care specifically for MPS patients. My name is Oskar and I'm one of the two participants. I have my good colleague Michaela with me as well. I'm from Sweden. I'm the president of the Swedish MPS Association and also a member of the Board of Directors for Rare Diseases in Sweden and Michaela, could you talk a little bit about yourself?
[00:00:58] Ms. Michaela Weigl: Yeah, hi, on my side I'm Michaela and I'm mom of five wonderful kids, one of them living with more kids, MPS 4A and this is what made my life different, very different from what I had planned so that's how I became president of the Austrian MPS Society more than 20 years ago. Besides that, I'm deputy chair of the advisory board of MPS Europe and I'm board member of MPS of Austria, all that instead of teaching so I swept my job from my colleague.
[00:01:39] Mr Oskar Ahlberg: We will try and do this as a dialogue. This is Michaela's family, I'm very sorry, I've actually shared the wrong presentation here. So just a couple of quick notes, please don't take any screenshot. You are also, you're able to send questions in and please use the chat box.
[00:02:36] Ms. Michaela Weigl: Move the slide forward, we are still in the panelist slide.
[00:03:13] Mr Oskar Ahlberg: This was working so well. Now, can you see a picture of me and my family?
[00:03:28] Ms. Michaela Weigl: Yes.
[00:03:30] Mr Oskar Ahlberg: Great, I can as well. So this is me and my family, my name is Oskar, as I said, I have three children, Olivia and Molly are my two daughters, they don't have any diagnosis and Casper, my boy, has the MPS IIA diagnosis, he's five and a half, the other, the big girl is eight and the little girl is eight months instead of years.
[00:04:22] Ms. Michaela Weigl: So this is my family now, you see I have five children and one of them is Maria, the little one in black. She's 27 years old now, so she's no longer a child and she had her birthday yesterday and you can imagine that we have gone through many difficult but also beautiful times in the meantime and today what I would like to do is to highlight what we did well or not so well and how this affected her life. Maybe we can help other families with our experience then.
[00:05:08] Mr Oskar Ahlberg: I mentioned this before and now it's also on the slide, so please don't take any screenshots. We'll try and limit this to 40 minutes, but when you're talking about your own child and your own family, it's always easy to talk for a long time. Any questions you want to submit, you can submit via the chat window in your application, and we will try and answer them as best we can at the end. We will try and do this in a semi- structured way. We're focusing on four questions today. Me and Michaela will both talk about our different children's diagnosis journey. As you know, MPS is really a collective diagnosis, and MPS III, which my son has, and MPS IV, which Michaela's daughter has. While biochemically they are similar, they present very, very different symptoms, and the journeys are just very different. We'll try and show a little insight into everyday life. Obviously, there's a very big, as Michaela said, before and after this sort of diagnosis. We will try and help you guys understand, from a pediatrician's perspective, what's important to pay attention to. If I remember correctly, I will start a little bit, Michaela, if that's okay with you, to talk His early life was sort of normal. He had a normal birth. His first year was normal, a little bit late. He sat up a little late, started crawling a little late, but we sort of figured that it was because of his size. He was a big boy. I'm 1.99 meters. His mother is 1.81 meters. He was always quite big and struggled a little bit to sit. He was very alert, very active. He made a lot of syllable noises, trying to make syllables. He was very keen to mimic what I did or other people did. He did have very difficult nights, which is normal for some newborns, but this is actually an early symptom. He still has very difficult nights. He wakes up a lot during the night. At first, we thought a newborn is hungry, but it's actually a symptom of MPS III specifically. He loved water, loved being close and in water, and we actually went traveling with him quite a bit. It was not particularly difficult from the first year. He was a little bit late, and the first indication really was at 18 months. In Sweden, we have a checkup at 18 months, a year and a half. One of the things that they check for is that the child can pronounce or understand 8 to 10 words. He didn't really. He could understand 2 or 3, but then what happened was that those 2 and 3 didn't become 8, 10, and so on. In fact, when he was 2 years, he didn't understand or communicate any words at all.
[00:08:36] Mr Oskar Ahlberg: The first external person to indicate something was off was the eldest person at his daycare, who said that we are concerned about Casper's development, particularly from a communications perspective. We actually had a lot of difficulty at home. Me and his mother, we took this news very differently. I was very worried. His mother was more, boys are always a little bit late. My son is perfect. There's nothing wrong with him. We actually had quite a difficult time agreeing on this. Eventually, we did go to a speech therapist, and we tested his hearing, which showed nothing wrong. Then in April, when he was a year and a half, sorry, 2 years and 5 months, we went to a pediatrician and tried to explain, this is our son, he does this, he does that, he may have some type of autism. She actually said, after about 5 minutes, she said, stop guys, I can stop you right here. I'm looking at him, the way he's moving, looking in through the room, looking through me. There are actually several signs here that this is too complex for me as a pediatrician. I will not be able to diagnose your child. She actually sent a remit to a neuropediatrician in May 2017. They did a lot of tests and they found urinary GAGs in May, quite early on, which indicated MPS III, which is known as Sanfilippo's, and they sent away a blood sample for genetic analysis based on those urinary GAGs. And on the 31st of July in 2017, we received the diagnosis. And the diagnosis for MPS III, this was a very difficult moment for us, for me and my mother. We, as I said, we took this quite differently. My wife at the time, she was convinced that he had some form of autism, somewhere on the autism spectrum. Her brother and three children who were all diagnosed with autism during this time period. When I heard that they suspected MPS III and were going to test the genetics for that, I actually started looking up MPS III. What is this disease? How does it work? And immediately, I could see other children looking very much like Casper. Some children with darker skin and darker hair, but the nose, the eyes, quite slightly. It's not extreme. Most people don't react, didn't react when they saw him. But looking at other children side by side, or pictures of other children, you could see a very strong similarity. So my ex- wife thought that probably autism, whereas I was quite convinced that this was probably MPS III. And getting this news was just very difficult. It was a severe diagnosis. There is no cure for MPS III. There is no cure or really no treatment. We understood from the meeting of the diagnosis presentation was that his brain cells will be destroyed one by one. But the projection of the disease is that he will struggle to learn new skills. It will take him a long time to learn. And eventually, he will actually start losing new skills. He will probably never be able to speak. We will try and help him communicate somehow, but it's likely that he will never be able to speak. He will eventually lose ability to walk. He will lose his ability to chew food and swallow food. And he will not live very long. That was a very hard blow. It's a difficult disease to predict. And the phrasing that we received was that he may reach 20 years of age, but then again, he may never become a teenager. He just doesn't. This was a very difficult diagnosis. In fact, my wife took it differently. Actually, two months after the diagnosis, she requested a divorce. We went through a divorce. It was a very difficult year after that. This isCKasper now. He is five years in this picture. He still has quite thick lips, a slightly wider nose. People, if they look at him, will react, but not an extreme look. He's a very big boy. He's actually bigger than his bigger sister, who's three years older. He's much heavier than she is. But he wears diapers all the time. He loves his pacifier. When he's tired or if he falls down and hurts himself, he gets comforted by the pacifier, and he uses it for sleeping as well. So, that was the diagnosis journey forCasper. And I think, Michaela, you had a quite different journey for Maria.
[00:14:42] Ms. Michaela Weigl: Yes, this is really true. So MPS IV is completely different from MPS III. And this picture is just Maria, showing Maria yesterday. So it's actually, she's 27 now, as I said. Can I have the next slide, please, Oskar? So this few pictures show you how Maria developed in the first year. In the top right corner, she was a newborn. She was almost five kilograms at birth, and she looked as if she was already three months old then. I did not think much of it at that time. I know that many MPS babies are very big babies and heavy babies. Maria also seemed to be hungry all the time, and I literally spent my day with breastfeeding her. On the other hand, she seemed to need no sleep. She only slept two times a day for about 20 minutes, and this was for the first seven months. So this was a little strange. We did our first routine examination. She was five weeks old and had already gained a kilogram, so she was almost six kilograms and 60 centimeters long with five weeks. She continued to go at this rate more than two years. And of course, she stopped at some time. When it came to mobility, she started crawling when she was eight months old, and she did her first step when she was 14 months old. But to come back to birth, there was one thing that immediately caught my eye. This was her ribs. They bite out, and I asked the doctors why she had these strange ribs. They calmed me down with many babies have this, and this will grow out. And Oskar, can you give us the next slide, please? Just want to let you know and to see this picture. She's 12 years old. These ribs never grew out. I think they are typical for MPS IV. So she was born with these ribs. She had them from the first day on. Next slide, please. In the second year, we had a wonderful year, and we spent it unsuspectingly with a healthy girl without any doubt. Next slide, please. Only in the third year, I had my first suspicion. So what I realized was that she had difficulties in climbing mountains. She was much slower than her friend, who was one year younger than her. The friend was two and Maria was three years old and I was surprised about the big difference between the two girls, but I did not pay more attention to that. The pictures on the left were taken just a month before I realized that something was wrong. And with my current knowledge, of course, I see the MPS symptoms, and I have marked some of them with arrows for you. Suddenly I saw that all one evening that I realized, and it fell from my eyes like scales and hit me like a bad tomato when I realized that nothing was okay. So the proportions were wrong. The neck was short. She was developing chicken breast, knocked knees. And also her hands were in a position, so this was very strange for me. And I showed up at our pediatrician in panic at 8 o'clock in the evening, told him what I realized. He then made an appointment in the hospital for the next morning, and Maria was X- rayed from head to toe, and the result was a disaster. Maria hardly has a normal bone, so her ribs look like other blades, her vertebrae are flat and checked, and her fingers look like sugar loaves, and one of the most important bones in the cervical spine, the dense axis, is hardly developed. So they suspected a kind of osteochondrodystrophy , which sounded dangerous for me. I didn't know what it was, and they also did a urine test. Can I have the next slide, by the way? This urine test showed that Maria does not have MPS, and this was strange, too. I should have been happy at that time, but I had already become active in the meantime because I didn't understand the words and didn't know anything about osteochondrodystrophy and a fall over mucopolysaccharidosis. I didn't know it, so I ordered a book about this subject. Next slide, please. So this was the book, and I literally dabbled it with increasing horror when I saw the pictures of the children so badly drowned by the disease, and I was just thinking, no, no, no, no, no, not my child. But when I came to the chapter about MPS IVA, I discovered Maria in every sentence, and so I know it is yes. So what I did was I contacted the author of this book, one of them is Susanne Kircher, and she was the door to the right diagnosis for us. She told me how the urine test has to be done, that the typical excretions could only be demonstrated with 24-hour urine, and when we did that, the diagnosis was positive. Actually, we are just working on the next edition of this book in German language. Susanne Kircher is updating the book, and I'm trying to raise the funding for it. Next slide, please, Oskar. I could not say that we had been chasing the diagnosis for a particularly long time, so it only took us three months from my first suspicion to the confirmation, but only thanks to my curiosity and initiative, and thanks to Susanne Kircher, whom I contacted. So at least we knew our enemy now, and started to arrange ourselves. This was my diagnostic story. Oskar, it's back to you.
[00:22:13] Mr Oskar Ahlberg: Okay. So, as you understand, the common theme here is that everyday life changes very dramatically, even though the disease actually progresses gradually. From diagnosis before and after, there's a big difference. But, of course, everyday life goes on. We have family. Both Casper and Maria have several siblings. So this is a little bit of a personal perspective on how everyday life is. Starting with me, then, everyday life is quite different. There are two main things that cause a difference in our life. One is that the sleep deprivation is a severe problem. A typical symptom of MPS III is that you have a disturbed sleep rhythm, so that if Casper has no medication in the system, he wants to fall asleep at 9 p. m. and then wake up at 1 a. m. He's fully awake and alert and happy and runs around and laughs. He's not a difficult child, but the time is difficult. He wants to be awake from maybe 1 a. m. to 6 a. m. Then he wants to go back to sleep from 6 a. m. to 10 a. m. or 11 a. m. But, of course, this is a very tough time for me as an adult, as a mother, to be awake. So we medicate him with several different medications to try and get the sleep rhythm normalized. That's one big thing. The other thing is that his brain function is deteriorated, so he will never be able to potty train. He will always have to wear a diaper, and he's a big boy. He's 34 kilos, so he needs very big diapers. He shows nothing when he goes to the toilet. So you have to constantly check, because a 33- year- old boy who goes to the pool, that's quite a lot to take care of. But traveling is actually, on the one hand, fairly easy, because, as you can see in this picture, Casper is quite content and easy to deal with. He's never or very rarely angry or upset. Especially, as you can see here, he's watching Netflix. He has one television program or one Netflix show that he likes. You can see that, and he's always going to be happy. But he can't be on an airplane. Last time we were on an airplane, me and Casper, he was about three, big boy. I had to change the diaper a couple of times. Fortunately, only for Europe. But he was too big for the bassinet. He was too big for the toilet. I had to change the diaper on the floor. The staff and the other passengers were... Yeah, they said a lot of bad words in a lot of languages to me and it was just not a very nice experience. So, I would not go on an airplane, trains are easier because the toilet is bigger, but that's just a fact of life. He goes to normal daycare, so when we got the diagnosis, it was in Sweden anyway, fairly easy to say to his normal daycare, look, this is Casper, you know him, he has this diagnosis, he will need extra care. He will never understand your instructions, he will need constant checking and typing. So in Sweden, they can then apply with this diagnosis, they can apply for funding to have one person full- time employee basically looking after that son. I made the decision to write a letter to all the parents in kindergarten saying this is his diagnosis, this is how you should interact with him, this is how you should interact with me... he gets a lot of love from his classmates. And this is from his birthday, I asked, we had a small party, everybody came and I asked, he doesn't like any toys, he doesn't play with toys or play with the football or anything, but I asked his classmates to draw, make a picture or some sort of painting, and they all came with these lovely, wonderful paintings that now sit within his bedroom. But from an everyday perspective, it's as long as we can sleep at night, then it's okay, but basically we can't. So we have some allocation, some money allocated from the Swedish government to hire personal assistants for Casper, not full- time, but some hours per week, and we spend most of those hours at night. So two nights, I pick up Casper from daycare, feed him, put him to bed, and then at 2 a. m. a lady comes home to me, or us, sleeps into his room and lies next to him, so she takes care of him when he wakes up, so that I can sleep for the rest of the night and be awake for tomorrow. And this whole sleep medication, it's always a big problem, and we spend a lot of time talking to different doctors and trying to get this right, we don't want to drug him too much, because his brain is quite delicate, and we also want him to be alert during the day so that we can keep teaching him and his brain to keep developing, and not atrophy too much. It will happen, but by training him into simple tasks like putting one object into another, or sharing one thing back and forth between him and his assistant and me, to keep his brain developing for as long as is absolutely possible. So, Michela, how is your, obviously you have a much longer life with Maria.
[00:28:47] Ms. Michaela Weigl: Yes, I have a long time of the whole life, so we had very different experiences in kindergarten and school, especially in the different schools Maria attended, so kindergarten and primary school was fine most of the time. The first real difficulties arose in gymnasium, so the physical difference between Maria and her friends had been obvious for a long time, and she couldn't keep up with them, and so she didn't really connect to her classmates who had other interests than her. The bad thing was there was jealousy against her due to some work relief. You can imagine Maria has very severe weakness in her hands, and so she needs more time to write, and she got additional time when it came to writing exams, and it's always the same, the few advantages that were actually only intended to compensate for her disadvantages, they were everyone's jealous, and this was not a good thing. Therefore, I think we as parents, we should provide education in school, also at the beginning in kindergarten, and explain to the classmates, other parents, and also to the teachers that. the disease to help them to understand the disability and to behave in a nicer way maybe. I once went to class and took a bag full of winter gloves with me and I asked the students to put them on and spend an hour writing in gloves. So, just to get a feel what this disability means and this helped for a while. Maria often had hard times in school from a social point of view, but she was a fighter always and she has good grades, okay grades, and in the end she finished business school where she met her best friend. So, our next topic would be friends anyway and family. Should I continue? Yeah, okay. So, Maria is lucky to live in a large family, I think, but it can be a blessing for a sick child, but that does not mean it's easy. So, not for the patient and not for the siblings or for the rest of the family. She has an older sister, Anna. She was practically always there and she always was taller than her, but her little brothers were babies and soon grew over her head and realizing that was not easy for her. Neither it was for the little brothers because they were the big ones then and they had still to accept that Maria was the big sister who had the say. And concerning friends, you see Maria was her best friend on this picture. Interestingly, Maria did not experience the worst crisis in her life when it was a matter between death and life, but when it came to friendship. First time was she was quite young when our neighbor forbade her children to contact Maria and she lost a very precious friendship. And the other time was when her best friend moved and suddenly lived some hours away from us. So, she almost fell in depression then. But luckily, I must say, Maria believes in God and turns to God. So, whenever it comes to difficulties, that gives her peace and strength and also it doesn't make her life easier. She at least knows her value. Thinking on these experiences and plus the bad time she had over years in school, I can imagine that families, not only the patient, also parents and the siblings, really need help in terms of having someone to speak to as a support, maybe a psychologist. I don't know, but I think it's not good to leave the family alone. Yeah, I agree. From my perspective, Casper, he mentally is such a young child, so he doesn't really interact with friends at all. But of course, it affected the family. As I said, we had a divorce very quickly after the diagnosis that obviously changes the dynamic for everybody. And his bigger sister, I explained to her when she was six that her brother has a disease in the brain and it will mean that he's very happy. He's laughing a lot, but he's going to be very difficult to learn new things. He will probably never learn to talk. He will actually not live for very long. And my daughter, her sister was very sad. She actually took it very well. I was very impressed with her. We talked a lot about Casper and qualities and good things and how he's having a good life. And she loves her brother. She is one of the few people that he actually connects to and reacts to when she comes into the room. He will actually look at her. He will normally not look up when I come to her, but when he sits with Casper, he sees her. We will look up. The divorce was very difficult but in a way it has one big advantage and it's it's quite tiring to take care of Casper because of this lack of sleep. But with the divorce we we agreed that we would have Casper for two or maybe three days and then he goes back and forth between. So it's become sort of a natural rhythm. I have Casper for two nights or three nights and then I know that it's going to be I can't, I can't go out or I can't meet too many people and I have to manage my work hours.
[00:35:26] Mr Oskar Ahlberg: But then I have two or three nights where I can I really focus on getting enough sleep and doing a little bit of exercise, getting extra stuff done on those days. So that perspective it actually helps a little bit. We talked about traveling. I mentioned traveling with Casper. I don't know, Michaela, do you have anything you want to talk about?
[00:35:58] Ms. Michaela Weigl: Yes, a little bit. Can you give me the next slide please? I just want to mention, of course it makes a difference if you are traveling by car, by train or by plane and, depending on the situation, we choose the right aid for getting around. To take with us. A big car is useful, but because you can take everything. However, Maria always gets a severe lower back pain when she's in longer car trips, so she prefers to go by train. The negative thing is, then, that we need mobility aid to get on and off, and this doesn't work perfectly, unfortunately. On the next slide, I would like to show you Maria's equipment, so we always choose the best one. You see, she also has an electric wheelchair. That gives her a lot of independence. The first time she had real freedom was when she got this electric bike. This is a very special one. We designed that ourselves out of a children's mountain bike, and she uses this bike since she's 10 years old. Also, we have a little balance bike, or walking bike, I'm not sure how you say it. We use this for hiking or also as a handsome alternative when a car has no wheelchair space. When Maria's going with somebody else. It's a bit exhausting for her, but better than walking. And then there's one other thing I would like to mention. This is ERT during travel. Next slide, please. So whenever it comes to holidays, some of us have to consider getting ERT somewhere else, and so it is important to know how long you will be on holiday and decide if it is necessary to get the infusion in this time. It can be complicated and in Austria it is different- might be different from other countries. So most of our patients receive ERT in hospitals but only those who are on home treatment can receive it also in during holidays. This makes it a big advantage to get it on home treatment. However, you have to consider also the destination where you're going. If it is possible to provide home treatment there. We need our pediatrician to write a designation for the nurse in the holiday, also for a kind of medical certificate when we are traveling with the enzyme and we need to make sure that the nurse in holiday handles the meds like our nurse at home. And, of course, the cold chain. But this is only for patients traveling and being on ERT, which are not many of them, just to mention this.
[00:39:27] Mr Oskar Ahlberg: Okay. So we were asked what you would suggest pediatricians pay attention to, and I think this is a difficult question, but the pediatrician that we went to quite early recognized that there was something that needed diagnosing, but that this was not something that she was trained in. I think that, at least in Sweden for sure, MPS is not part of the normal curriculum or there is a very short course on rare diseases in general, and there are 7,000 rare diseases, so MPS will not yet have to stand out. But of course it's important to understand that there are different potential or possible diagnosis and I think that we, looking back, I was quite relieved that we didn't get sort of a guess diagnosis- I think it might be this- and that it was something.
[00:40:34] Mr Oskar Ahlberg: I know from experience that a lot of MPS parents have gone through a loop where it was suspected to be something and everybody sort of assumed that this is the correct diagnosis, and I also know that there are a lot of people who get suspicion about MPS and then it turns out that they in fact it was not MPS. Facebook... or something in the Facebook group, and then they said that we waited for the test. And then, oh, it wasn't MPS. And then they go out. How about you, Michaela?
[00:41:23] Ms. Michaela Weigl: You have some. I have some practical advice, most of them concerning MPS IV, of course, hands. So with these pictures, I would like to show you that the loose ligaments cause a hyperextendability of Maria's joints, and this extreme flexibility causes mainly two things: one is pain and one is weakness, and in any case, it makes sense to prescribe some kind of hand splints or something similar like pressure socks. Maybe Maria doesn't like them at all, all of them- but in periods of pain she accepts them quite well because they help, and we sometimes also tape. The disadvantage of all these splints and pressure socks is that she cannot put it on or off by herself. The next thing I would like to show you is the problem of the knock knees. You see how quickly Maria developed them within the first years. When she was seven, her right knee was almost above her left knee and she practically had to unthread when walking. This was difficult for her and she was in pain. So we tried to find help and got very different opinions, and this is the reason why I show you all this. On one hand, whether this is done by osteotomy or whether eight plates would be enough, and, on the other hand, for the right time of the surgery. Many say that this operation should never be carried out before as long as children are growing, and others mean as soon as possible. So I got both opinions and the decision remained with me. So I tried to stand in this knock knee position myself for a few minutes and I immediately felt the pain in my hip, and I knew that Maria's hips were affected too. So this was the reason for my decision to do it as soon as possible. And in the next slides I would like to show you how we did it. Step one was a complete osteotomy of both legs, and Maria was living in the Ilizarovs for months. It was not an easy time, but we did it. And the second step- next slide please- was the upper legs. This has been solved with a plaster and you can imagine we had to be resourceful and needed some ideas to keep her well entertained for the next eight weeks. But in the end we were done. You see it in the next slide. This was after five months, completely straight legs, so we were very happy about this result. And in the next slide I have got a video for you. You can see Maria running. She is 17 years old in this little video and she is now 27 and she is still running like this. Only short distances of course but she is able to do that. And I think all this is thanks to this osteotomy we did in the beginning and this correction. Next slide please. The other thing we always do is physiotherapy and I would really recommend that regular physiotherapy is prescribed and approved as a permanent prescription for our children, not only for some appointments but regularly for the whole year because movement is life and if you don't move you become immobile. So the longer we keep our children mobile, and this is for all the MPSs, the longer they will be able to move independently. The picture bottom right shows Maria when she last year finished the inclusion round of the Vienna City Marathon. She did 800 meters so I think she is really in a good way.
[00:46:15] Mr Oskar Ahlberg: Okay, I am trying to get through this video. So just to round up I guess is what you wish the pediatrician asked me or me and Michaela of course as parents but never did. And as I said I think our pediatrician did a good job. She admitted us to a new pediatrician and they did a good job. But looking back, the one thing I was missing is really asking me and my wife, how do you feel? This is a very tough journey. It's good that we had a fairly short journey from the diagnosis but emotionally it's a very long journey. You go from thinking that you may have some problems in your life to realizing that my son is going to die and I am going to live for many years after that fact. Emotionally it's very tough. I know that's not the specialty of the pediatrician but the parents are of course the main caretaker of the child. The health both mentally and physically of the parent is crucial. I can just look at myself. It's taking me some time to adjust and find some sort of balance where I feel that actually I am a very good and strong and useful parent to Casper. That may be the one thing that I would ask pediatricians to remember. Ask how are you feeling? How are you doing? Are you getting help? Are you getting sleep? Talking to parents, family, siblings, professional help. Definitely professional help. It's very important for me personally. I'm very glad that I was able to find professional help quite early on. I'm very grateful for my support network. I was able to early on communicate with my family and close friends who have been extremely supportive. What about you Michela? Do you have anything that you wish your pediatrician?
[00:48:43] Ms. Michaela Weigl: Yes, I have three things I would like to say. First one is about hearing aids. After reading the book about MPS well before diagnosis, I was aware that what was going to happen to Maria also including progressive hearing loss. It was only a matter of time that she would need hearing aids. Our doctors also were exceptionally good. We did all the annual checkups and didn't miss a thing. Of course we checked the ears every year and always with the result that it is not so bad and we don't have to think about hearing aids yet. Yes, this went on until Maria was 13 years old and she attended third grade in gymnasium and she ended up with worst grade in English. I knew that this could not be due to laziness, because she was not lazy, and so I made an appointment for another hearing test, not in the hospital that time, but at the acquisition, and, interestingly, a Freiburg hearing test was carried out for the first time there. So far, Maria had only to respond to beeps, but this time she should repeat words and numbers, and only the correct, understood words were evaluated, and this was when the whole truth was revealed, because words like sad, bad, dead or house mouse, louse, this was all the same for her. She only understood the middle of the word and produced the rest, and this was not a problem in German as her mother language, but it caused her difficulties in English, of course, and so the need for hearing aids was more than obvious then. But it was a late. Supply should have been earlier, and so my recommendation is to do speech audiometry as soon as possible and no beeps. This is the first thing I would like to say, and the others is about feet and ankles, because this is something I would probably say we have missed. As you see, the foot deforms extremely over the years, and Maria kicks more and more. Her heel is no longer touching the ground, and it's probably only a matter of time when she will stand on her ankle. Theoretically, you could operate on the ankles also and fix them with screws, but you would have to do this a lot earlier, maybe when we started to do the corrections in the legs when she was eight years old. It's too late now, so if somebody would recommend this for his patient, then do it early. However, I did not observe this extreme deformation in those patients who are unable to walk, so this is maybe the price for being able to walk. And the third thing is about parents, about telling the diagnosis. This might be important for some of our parents. Being told the diagnosis is something you will never forget, and I know that nobody can make it a highlight of life, but because it will always hurt and it makes a difference in what situation and what words, you are told this terrible truth. And it is terrible truth because our dream child, the healthy one, dies at that moment and the sick child is born at this moment, and the pediatrician is the bearer of the bad message. And this is why I would ask all of you that please prepare yourself well and take your time for this conversation and do not make statements about things you are not absolutely sure, like we heard. Also, she will lose her brain and die. Nothing happened like this, and I heard a lot from other parents. So another thing is answer questions honestly from the beginning on, because the truth will turn out some day anyway, and it will hurt, but it is better to know the truth. The situation is a shock situation for everyone, and so I think parents will not hear everything you say and they will not understand everything you say when they hear this the first time. So they also need further appointments at a short notice and we should not leave them alone. And this brings me to my last sentence. Please do not wait. Please don't wait to tell them about us, about the MPS societies, but encourage parents to approach us. We will try our best to support them. In many ways. It is just much easier if you feel that you are not alone.
[00:54:42] Mr Oskar Ahlberg: Yes, I completely agree, and in Sweden I think everybody makes their own choice. But there is always a bit sadness to hear that a new diagnosis has been made and the family does not want to contact the MPS association- obviously their choice, and I know from personal experience that some people react that way. But I do believe that other parents and other people in similar situations can be very supportive and very helpful. And it doesn't have to be right away, can be, it should be at the right time. But yeah, there is help to be had. That's a strong recommendation. So we run a little late, unfortunately. I'm sorry about that. When you talk about your own children, it's you can never stop a parent talking about their child. We still have 84 people listening, so so obviously we haven't scared everybody off. This is the question-and-answers session and if you would like to type in any any questions, I see here we have a question from someone who says: how has the COVID-19 pandemic impacted on your daily routine and care received? And from my perspective, it's actually had a very, very low impact. The MPS spectrum is quite wide and the different diagnoses are quite different. But from MPS III is different in that you're actually not normally part of a risk group, you have MPS III. It's different for many of the other MPS diagnoses, so my son is not at risk. We do have a lot of hospital visits. There are a lot of checkups that I haven't mentioned: x- ray of parts and kidneys and lungs, etc. So we've had to reschedule some. But at least now they have organized so that we can come into the hospital with a COVID-19 free entrance and COVID-19 entrances are quite well separate and different in the separate clothes at the hospital. So it was very scary and difficult for the first couple of weeks before we were able to find a position to talk about my son's particular needs and risks etc. But after that it actually had a fairly low impact. How about you, Michela?
[00:57:37] Ms. Michaela Weigl: I must say I agree with what you said. What we did? I tried to get patients who are on enzyme replacement therapy change to home therapy and in some cases this was possible, in others not. But in the beginning patients and their families were afraid from going to the hospital every week. But on the other hand, you cannot stop enzyme replacement theraphy so this would not help the child anyway, and so in some cases we were successful and I hope this will this. They will be good off. And you know, Oscar, we did this. We asked the other MPS societies around Europe, around the globe, and we saw that almost any MPS child was affected, and so maybe this is because we all take care, very much care, for our children.
[00:58:51] Mr Oskar Ahlberg: I don't know all of the Swedish MPS families have self- isolated quite strictly, not just the children, but the parents as well. So and of course, if you have MPS II, for example, you are at much higher risk because it's very difficult to intubate if you have MPS II.But you're right, we have seen very, very few MPS, both children and adults, who have been affected so far. We've got another question here: how can we better communicate with you regarding treatment options and new therapies? Well, from my perspective, if there was a treatment option, I would be extremely overjoyed to hear it from MPS III. There are some clinical studies going on and they're extremely difficult to get into. They are normally with a low, very low number of participants. My experience is that parents are reading more about treatment options, especially new therapies, than the doctors. In Sweden, there are no MPS- specific doctors. There are specialists in rare diseases, but of course they have 7, 000 diagnoses to look after. So, more communication and more ... and Michaela said something quite recently, and that's be very open and answer questions as well as you can. When you find a therapy or a new treatment, you want to understand what the risks are. This is where a good doctor or pediatrician or adult doctor can really help. I want to understand what ... I understand that this is a new study, new treatment, there are risks, but what are they and what do we compare them against? Do you have anything to add, Michaela, about treatment options and new therapies? Normally I think ...
[01:01:13] Ms. Michaela Weigl: No, no, just really be open and tell the parents about the options. We are looking at all these options also as an MPS society, but we can only inform that there is an option, but the doctor has at least the say, so he should tell the patient because nobody can enter clinical trial without help from his doctor.
[01:01:45] Ms. Michaela Weigl: Yeah. Another question here, what one new action taken by your care providers would help the most over the next six months? For me, I think it's quite easy. I would like a telephone number to my doctor. It's very difficult for me to reach Casper's doctor, not my doctor, but Casper's doctor. I have a phone number to a nurse's office and they would relay a question and then they would maybe call me back. If the phone rings, I have to stop what I'm doing and answer it. Quite difficult. I have a lot of questions.
[01:02:22] Mr Oskar Ahlberg: There are a lot of new symptoms and new developments. There are a lot of new checkups, so having a way to communicate directly with Casper's physician would be a big help.
[01:02:44] Ms. Michaela Weigl: I just have the idea that I would like to see annual checkups being put together for some patients in the hospital, so like they are doing it in England, so the clinics. It would be very helpful to see the doctors at the same time and also come together with some families at the same time. Also the society would be present for other questions, so I think this would be helpful. We did this in an orthopedic hospital for a while and this worked very well, but unfortunately we had to stop it again because the doctor we were working with was leaving the hospital. This could be a nice option for all our families.
[01:03:43] Mr Oskar Ahlberg: Yeah, I agree. I see now there are no more questions. I would like to thank all of you. There were almost 100 participants during a lot of time anyway. Thank you so much, all of you, for listening to me and Michaela talk about our children.
[01:04:07] Ms. Michaela Weigl: Thank you for your interest.
[01:04:11] Mr Oskar Ahlberg: Thank you so much. This will be recorded and you can share it to your colleagues. Have a nice rest of the day.
[01:04:21] Ms. Michaela Weigl: Have a nice day.