Dr. Simon Jones: 00:00:00 Hello everyone, good afternoon and welcome to the next module of the online course from MPS Europe, the Metabolic European Reference Network, 8-METABRN and Excellence in Paediatrics. I apologise if you can't see my face. My name is Simon Jones. I have a camera issue, but I'm presenting this module. If you go to the next slide, please, Jane, with Jane Roberts, one of the clinical nurse specialists at Manchester Children's Hospital. I'm Simon Jones, a paediatrician here at the Children's Hospital.
Dr. Simon Jones: 00:00:39 The topic of Module 3 is the role of paediatricians and managing the patient with mucopolysaccharidosis with their everyday health issues and as part of an MDT. So, as I said, I'm Simon Jones. I lead the Lysosomal Storage Diseases team here in Manchester in the UK and Jane?
Ms. Jane Roberts: 00:01:03 Yeah, I'm Jane Roberts. I'm one of the clinical nurse specialists up in Manchester and I've looked after children with various MPS diseases for the last 19 years and work very closely with Simon.
Dr. Simon Jones: 00:01:13 Thanks.
Ms. Jane Roberts: 00:01:16 Next slide, please. So,... of housekeeping. If it's your first webinar, can you not please take any screenshots of the presentations and then do not reproduce any of the slides or the contents or the images that are on the presentations without the express written permission of the speakers. The format is going to take about 30 minutes with a short presentation, discussion and question and answers. So, if you want to ask a question at any time, just please submit them throughout the presentation by the question panel. You can only submit them by text.
Ms. Jane Roberts: 00:01:54 That's the only way you can do it, but not verbally. And, you know, at the end of the session, we'll try and answer as many questions as possible. And at the end, if you want to see it again for any reason, there's a recorded webinar available online at www. ineip. org.
Ms. Jane Roberts: 00:02:14 Good.
Dr. Simon Jones: 00:02:14 So, today we're going to, as we said, try and cover the role of paediatricians. Although we don't know everything about all of you, and each country in Europe has a different healthcare system, we'll try and be as generic as we can and allow this to be as useful as we can to you.
Dr. Simon Jones: 00:02:36 We obviously are based in the UK, where there's a very centralised healthcare system which does lend itself to the care of children with rare diseases by sort of mandating referrals through to specialist centres, where people like us, for example, we work in Manchester and look after children with MPS from almost half of the UK, so certainly the whole north of England and beyond.
Dr. Simon Jones: 00:03:05 And so, there are local paediatricians working in the closest hospital to the family, and some care is provided there and some care is provided at our hospital, but our hospital may be several hundred miles from where the family live. And so, although we are very much coordinated in the care, they may need extensive local services from their local hospital and paediatricians.
Dr. Simon Jones: 00:03:31 And so, I think while this may be different in different healthcare systems, there may be, for example, in some countries in Europe, a very decentralised system, the same principles, I think, about how to coordinate care, how to look after these children and families and young people with very complex conditions, I think will hold true. And so, irrespective of your setting and where you find yourselves, if you're looking after a patient with MPS, then I think there are several core messages that we'd like to stress here in the objectives.
Dr. Simon Jones: 00:04:09 All of these patients, for reasons that should become obvious, will need a multidisciplinary or MDT approach to managing their healthcare. None of us can do everything. We need to think about the role of the paediatrician or the paediatric services closest to home in helping manage some of the aspects of these patients, and then to talk about how we try and make this work for the family and for everybody, and really having the family and the child at the centre of this sort of care.
Dr. Simon Jones: 00:04:45 So, we'll try and cover all of this, and we'll use a case study to try and amplify and illustrate some of these. Jane, if you can move forward. Thanks.
Dr. Simon Jones: 00:04:57 Excellent. So I hope that many of you will have attended some of the previous webinars and if you have, then you will know all of this.
Dr. Simon Jones: 00:05:08 I'll just briefly wanted to use this slide just to illustrate that there are multiple different MPS diseases and that defects in the MPS genes mean that there's a deficiency of an enzyme, which means that there is storage of these molecules that we call variously MPS chemicals, mucopolysaccharides or GAGs, glycosaminoglycans- and these molecules- germitans, heparan and keratansulfate- build up in tissues and progressively cause multi- system, progressive dysfunction in our patients and families, our patients and young people, causing the complex and varied diseases that MPS are.
Dr. Simon Jones: 00:05:47 Those diseases that we see that have primarily a heparan sulfate storage, like Sanfilippo, for example, or MPS3, give rise to a progressive neurodegenerative disease with all of the complications and issues that we have there, whereas defects more associated with germitansulfate or DS storage primarily give the progressive skeletal, visceral, heart and airway diseases that again need complex, multi- system support.
Dr. Simon Jones: 00:06:15 If you have diseases, of course, like MPS1 and 2, where you have germitans and heparan sulfate storage, then you need both neurological support and somatic visceral support. So these patients really stretch all of us as far as our medicine can go, with individual healthcare practitioners, but also our healthcare systems and how good our specialists are.
Dr. Simon Jones: 00:06:41 So I've spent much of the last 15 years of my working life looking after patients with MPS. But I recognise that the bit that I can do is probably as an individual is probably 5% and, as Jane might say later on, that's probably over again and over influencing my influence and direct involvement. So we need to be part of a team. It's not a choice in MPS and that team needs to function well. So next slide, please, Jane. As you see, the team in this presentation involves the fact that I can't even advance my slides and Jane has to do it for me.
Dr. Simon Jones: 00:07:17 So really, what do we all need to do to look after these patients?
Dr. Simon Jones: 00:07:23 So I've shown in the last slide enzymes and gAGs and genes, but actually it's about children, young people and families, and so we need support from early diagnosis of these conditions, and there's been previous webinars thinking about how we achieve accurate and timely diagnosis for these patients, but also managing throughout the disease, supporting the family through the shock of the diagnosis, and there are webinars about dealing with the psychological consequences of this, moving through to some of the major interventions, maybe orthopaedic, and then also thinking about end stages of the disease.
Dr. Simon Jones: 00:08:06 So that may be from the point of view of us as a paediatric service, moving through the transition to adult metabolic or MPS care, but it may also be the end- of- life care that affects some of our MPS families. And whilst there is a very broad spectrum of high MPS affect patients and increasingly we're aware of adult onset MPS, and we do know that MPS is, for many individuals with this group of diseases, a life- limiting condition and that the MPS disease will have a role to play in how long they live.
Dr. Simon Jones: 00:08:42 And although our interventions, we hope, have dramatically increased and in many cases we can prove that they've dramatically increased the lifespan of our patients, that is not yet, for many of the individuals that we look after, a normal, healthy lifespan. And we're really, in this talk specifically not going to talk much about some of the what we often think of as the exciting advanced interventions such as enzyme therapy, bone marrow transplantation, but we're now increasingly genetic therapies.
Dr. Simon Jones: 00:09:17 What we want to talk about is actually what we, Jane and I, spend the majority of our time doing, which is not delivering those fancy therapies but actually doing what we think of as good, old- fashioned, proper clinical care, and it's really important to get right. So, as we talked about, and the MPS diseases are complex, they affect the majority of body systems, although each patient is different.
Dr. Simon Jones: 00:09:43 Treatment and in terms of supportive treatment, requires very much a multidisciplinary approach and often there needs to be a lead clinician or a lead center directing care, and that's not necessarily always a doctor. In the UK we have the system that I've described earlier, but in other systems- healthcare systems that will be different, but there still needs to be a center that is coordinating care.
Dr. Simon Jones: 00:10:11 Even if things are very decentralized in your healthcare system in your country, even if surgery or one type of surgery is done at one institution, another transplant is done at another or is done at another, and there needs to be some one or center who takes control.
Dr. Simon Jones: 00:10:32 Otherwise we end up as we've seen with a number of patients risks that no one makes key decisions and the patient is in stasis and no one and never moves on, or that everyone just makes their own decisions without a regard or consequence of what any of the other institution, centers and practitioners are doing, which can lead to sometimes some quite catastrophic results.
Dr. Simon Jones: 00:10:56 So- and we've seen that- so there does need to be a way of coordinating care and for your own healthcare system you need to work out for each patient how that is going to be, and from our perspective here in Manchester we see every day that having an engaged, involved local pediatrician is really helpful to our patients and our families and to us.
Dr. Simon Jones: 00:11:24 And as many of our patients come from far away to our center here in Manchester and if they do come a reasonable distance, then having good health care to deliver acute health care, but also community and chronic involvement. Healthcare involvement can be so important because there are a number of things that we can't do. We don't want to take over the role of a local pediatrician.
Dr. Simon Jones: 00:11:50 There will be things, clearly, that a local pediatrician will be able to do better and much more in a much more easy and accessible way for the family than we can manage here in Manchester. And there were things, of course, that we will need to bring the, the child or family here for if they need a very specialized intervention, if they need a bone marrow transplant, if they need complex surgery, then they may well need to come here or to a hospital that can deliver that.
Dr. Simon Jones: 00:12:18 And but if they need and routine health care, then there's no, there may be no reason why they can't have that very close to home, either delivered in the community or in their local hospital. It may be, of course, if one of these children has very, very challenging airways, then a very simple procedure, which maybe is performed every day in your local hospital, may be too dangerous for these patients, but having coordination and good communication allows these decisions to be made.
Dr. Simon Jones: 00:12:49 Some of our patients, for example, will have a port- a- cath or a line inserted at their local hospital because we know from experience and having anesthetized them before, that they may have very good airways and their risks may be very close to that of a healthy child, whereas for many of our children, that's just not possible or safe because they have very challenging airways and their interventions- anesthetic interventions- need to be very carefully planned with the most expert of anesthetists, and so there may be only a very small number of places in the country where they can be anesthetized safely, and this variability where within a patient and between patient, means that we need to communicate and have a health care plan for each particular patient.
Dr. Simon Jones: 00:13:39 This is a lot of work and these patients are a lot of work, and I think we need to be open and honest about this and all of this, all of this planning and work, is actually essential to provide the best quality care and to keep our patients safe and actually, if done well and done right, I think it's actually enjoyable and I enjoy looking after our patients and I think those paediatricians who we've worked with for many years and particular children from diagnosis through to transition to adults, where they have been really involved in general- really enjoyed that and and found that that's been a useful experience for everybody.
Dr. Simon Jones: 00:14:14 Okay, Jane. So just before I hand over to Jane in the next slide or two, I just want to bring up this slide and we've amplified the role or highlighted perhaps the local paediatrician here in this list. But I think this is Jane's slide originally.
Dr. Simon Jones: 00:14:34 I've stolen it and what I wanted to really show is the huge number of healthcare professionals that these children, young people and families have to deal with on an average week, month, year, and each of these- and in fact this list could even be longer- I mean it's just a huge number of professionals and services that the family have to engage with. Remember, appointments: for many of our families, if they tot up or count up their appointments over a year, will have 60 plus appointments with different healthcare professionals in an average year.
Dr. Simon Jones: 00:15:11 That's more than one a week. And you've got to also do everything else that a parent does: school, try and have a life, feed everybody, go to the shops, survive- and a parent might actually have work as well on top of that, and I don't know how some of our families manage it. And so trying to coordinate all of this between ourselves as healthcare professionals, streamlining this as much as possible, has a huge impact on role and can seriously improve the outcome of healthcare for the families.
Dr. Simon Jones: 00:15:46 And finally, it's important to see the child, not just the disease, as somebody who spends a lot of their working time researching MPS and trying to develop new treatments, we think about gags, we think about chemicals, we think about cells, we think about tissues and organs, but actually there are different children and young people who are all affected differently by this group of varied conditions.
Dr. Simon Jones: 00:16:15 They may all have their own genetic mutation and they have their own backgrounds, their own healthcare backgrounds, their own social and family and cultural backgrounds, and so care doesn't need just to be thought of for these families the context of their particular organ system or how bad a heart valve or an airway is, but also in terms of where the family lives, what else they're dealing and struggling with and what the particular level of understanding and ability to cope with all of this is, and so tailoring our healthcare for their needs is critical, and we're in this for the long haul.
Dr. Simon Jones: 00:16:54 We are always telling the families we're in this is a marathon, not a sprint, and keeping these families on board and engaged with us and with healthcare for 10,, 15,, 20 plus years is incredibly important.
Dr. Simon Jones: 00:17:10 And now we're handing them over to the care of our adult colleagues and thinking about young adulthood, about work and about having families themselves, and so I think really putting the child and young person at the centre of what we do for the long run is really so important, and we'll talk about a case now of a young man that Jane and I knew very well and worked with for many years, because I hope he illustrates some of this. Thanks, Jane.
Ms. Jane Roberts: 00:17:41 Okay, so we're going to move on to this very short presentation and I'm going to introduce you to Jack, who we... he was... three years old. He actually came on the original trial and he had the placebo for a year and then started enzyme replacement therapy when he was about 10.. And he this seemed to ameliorate some of his symptoms and slowed his disease progression.
Ms. Jane Roberts: 00:18:12 But over time, as he grew up and became a rum drinker and a smoker and he craved his independence, got a job in the local pub and we were getting him ready to transition to adults at this time he started to run into some devastating airway problems and we all know that. You know, having problematic airways is very devastating and causes the most common cause of death in our NPS2 population.
Ms. Jane Roberts: 00:18:40 So, Jack had multi- level airway issues, and sometimes we try and fix this by trying to take out the tonsils adenoids, but when they tried to do this, they couldn't intubate him because he had the tick list of someone who can't intubate. You know, he had a large tongue, you know, excess secretions, rhinorrhea, severe trachymalacia, everything down to obstructive airway disease and terrible, terrible sleep apnea. They did manage to do a bronchoscopy at one point, and it showed 90% collapse of his upper trachea, which is really devastating.
Ms. Jane Roberts: 00:19:19 Because he lived 200 miles away from our hospital in Manchester, it was really important he had local and specialist teams to support him and his family. And eventually, because Jack was such an amazing young adult and had a lot of life to live, it was decided to place a tracheostomy in him.
Ms. Jane Roberts: 00:19:40 We know this isn't a quick fix for the MPS- 2 children, and it's not a routine op we take very lightly at all for MPS- 2 children, and we had lots and lots of discussions regarding the risks versus the benefits of placing a tracheostomy, which was going to be permanent. You know, Jack had a massive bucket list, and his biggest desire was to go swimming in Barbados. So, we had to involve our pediatricians. They were already involved. They looked after Jack locally for many years.
Ms. Jane Roberts: 00:20:11 And at this point in time, they were especially invaluable because we had a lot of pre- op care to organize, which could be done near his house, not 200 miles up the motorway. You know, it's really important we were going to keep him safe, so we did multiple sleep studies with him. And emotionally, we had to support him. It was a massive undertaking he was going to endure, and so we had to have local psychological support, which was really helpful.
Ms. Jane Roberts: 00:20:40 Also, he loved going to his local hospice, which was a great place for him to just forget all his worries and enjoy some regular time with his mates. The community nurses were brilliant, and the pediatrician coordinated them to come and to do regular blood gasses so we could keep an eye on what was going on overnight. And also, we managed to get CTs of his trachea, you know, brought up through our PAC system, so everyone had a very good idea of what we were going to enter into.
Ms. Jane Roberts: 00:21:08 And of course, we needed these results relaying, and it worked very, very well. However, his tracheostomy was really, really challenging. He had an awake intubation, and the purpose- made tracheostomy tube that we had made for him was inappropriate and didn't fit. This is because he had very deep trachea, and the cartilage was really thick. So our ENT surgeon had to think on his feet, and he ended up cutting down an ET tube and popping that in. But 24 hours later, this was failing.
Ms. Jane Roberts: 00:21:43 Jack was getting into a lot of distress, and again, he had to be rushed back to theatre and have a bigger tube put in. And actually, the ENT surgeon said he thinks he lost 10 years of his life doing that. It was so tricky. You know, post- op, he ran into complications with neck and head emphysema. The tracheostomy changes were very traumatic for him. A lot of bleeding, a lot of secretions, constant suctioning. This all settled eventually, and he was given a bespoke bivona, which came from America.
Ms. Jane Roberts: 00:22:16 And before he left, he got a T- tube put in, which he learned to suction his own way with no gloves and one suction catheter at a time. So he learned to do it himself, which was really, really good. And without our local paediatricians supporting Jack, we would not have got him home in a timely manner at all. You know, when we send someone home with a tracheostomy, they need buckets, loads of kits, you know, and they need support to access all the services. Plus, they need oxygen supplies to the house.
Ms. Jane Roberts: 00:22:46 And oxygen supplies, suddenly they become very medicalised. So it was very good that paediatricians could liaise with the family to do this. Jack again, he's becoming a young man now, as you can see. His moustache has grown. And so he got referred to the adult hospice care, which he thoroughly enjoyed. And it was great because the communication was great all along the way. And any concerns, any worries, the paediatrician would come and just tell us about it. And this was great for the family. They felt really connected.
Ms. Jane Roberts: 00:23:17 They felt very in control of Jack's care. And they were really happy they could access and coordinate the local services themselves. And the confidence in the team grew immensely.
Ms. Jane Roberts: 00:23:26 So it's very obvious what some of the positives of local management is: a, they don't have to drive up on the motorway for many, many hours just for a sleep study. You know they can get access easily to the local services for physio. They get help with education and one- to- one services. If they need antibiotics or any change in painkillers, that can be done locally without having to come here. And also, like Simon said, the team are able to pick up evolving problems so we don't get so many children in dire straits for the local teams.
Ms. Jane Roberts: 00:23:59 You know the pediatricians get to know this very rare disease. They may not want to, but they do get to know a lot about it and with their relationship with the metabolic service they can come and attend study days. It can come on conferences and build their, their knowledge and skills around this cohort of patients. Also they become aware of what procedures they can do and what procedures they shouldn't touch. And we are very, they are very aware that a general anesthetic should not be taken lightly because of the disease restrictions.
Ms. Jane Roberts: 00:24:30 And we know working together can allow teams to become more creative with the solutions to NPS problems and also, again, it helps to spread awareness in the community. So there's a positive, there's always a negative. I mean our families. We do wrap them up in, sometimes in cotton wool. We're quite bad at handing them over to people and we need to be better referring these children to a pediatrician when we get, when they get diagnosed, so they can get to know them. The family know who's to contact.
Ms. Jane Roberts: 00:25:01 Although some of the contact the families can be resistant to change and count can be resistant to engaging with other services. It works other way. Sometimes the local team doesn't know who to contact so you know delayed there can be delays in results. It's really important to get the communication sorted at the beginning. Trust needs to be grown. These patients are very well informed. You'll find that they have a lot of support and a lot of education, a lot of information given to them and they are very informative families.
Ms. Jane Roberts: 00:25:30 So they need to grow their trust in the local services and the local services in themselves have to grow in trust and confidence in dealing in these quite challenging families with a lot of problems, and that this becomes. They become more confident if they see them on a regular basis. We know that MPS is a very rare, a very rare and complicated disease, but actually pediatricians have a vast array of skills in their hands.
Ms. Jane Roberts: 00:25:54 You know a lot of this thought of the problems that they protect, that they present with, are sometimes like near infection or pain management, or they might fall on the bike and broken an arm, so they all have normal bumps and nature as well. Surgery: again, please discuss with the specialist center just in case there is something outstanding that we haven't communicated. Coordination of care: we need to be really careful we don't over investigate, give them so many appointments that they don't attend and become appointment fatigued again.
Ms. Jane Roberts: 00:26:27 You've seen that very large team they've got. We're going to add some more people in- and the people and families do get muddled up sometimes. It's very important. We we try and keep it tight and, of course, having a nurse specialist I think is very useful and I hope Simon agrees. Of course we know communication is really important. It is key that we keep each other informed. The coordination of care is vital. We spend a lot of time talking to our local service, our local pediatricians, and keeping everybody doing the same thing.
Ms. Jane Roberts: 00:27:00 Knowledge and education spreads disease awareness and we doing this we help raise standards of care. We need to respect each other's skills. It's not a competition between the teams. We really do appreciate everything our colleagues do locally and it's a shared experience, and having this joined up thinking increases the quality of care for the patients and also gives them more choice for that for them in the long term also.
Ms. Jane Roberts: 00:27:27 We need pediatricians be part of our team, especially now covert has shrunk our world so much and it's a lot smaller, and so we really need our colleagues. They're really valuable and we really appreciate them. So thank you for your time and Jack's family for letting us use the photographs, and here he is having his swim in Barbados. Any questions? So one of the questions we have put up on the slide is: what are the particular challenges do pediatricians face when looking after an NPS patient? I'm not sure if anybody's had any particular challenges.
Ms. Jane Roberts: 00:28:14 I know we have, haven't we, Simon absolutely?
Dr. Simon Jones: 00:28:20 I think- yeah, I mean, I just reiterate, I think, what we said earlier. I think I think we can see that where there's an engaged local paediatrician working as part of that multidisciplinary team, our patients, our families, get better care and they become the local coordinator in many ways.
Dr. Simon Jones: 00:28:43 Yeah, we, we have some occupational therapists and speech therapists and physiotherapists that are centre, but you know, the families will need those allied health care professionals close to home to manage things in the community or a local hospital, depending on your country- set up and and liaising, coordinating with them, making sure that the particular needs of MPS patients are met. It can be very challenging.
Dr. Simon Jones: 00:29:15 If the local paediatrician has a good relationship with those health care professionals, then that makes life for the families much better, because the type of management we think our families need is quite different from a lot of children, and many of these services, certainly in the UK, are based around children with sort of static neuro disability or musculoskeletal problems, and so I think what our MPS families need is actually not quite that, but something that is a bit different and with different expectations, and so managing that with lots of communication and education is, I think, important.
Dr. Simon Jones: 00:29:59 Okay, quick question. Can you see the question, Simon. Yep, you want to read that.
Dr. Simon Jones: 00:30:12 Yes, so can the general practitioner or GP play a central role in coordinating and following up and trying to make a link between the university Hospital to push forward some items in care, especially when the neurologist of the University Hospital doesn't do much coordinating and follow up, especially for patients who are in adulthood and too old for paediatrician and in transition, the GP can maybe be a good doctor to follow up with the neighborhood how to make this work.
Dr. Simon Jones: 00:30:38 And yeah, I think this is a really big issue, especially when we think about transition of our young people through to adulthood, and there are roles, certainly that the paediatricians have traditionally played in managing children with complex needs and that are primarily that of, as you say, coordinating, of coordinating care, linking between services, managing education, schools, etc. And and that much of those roles do not do not exist in some ways in secondary care in adults. There is no.
Dr. Simon Jones: 00:31:14 Often, certainly in the UK, there's no general physician anymore and and so in some countries, the specialist, if you like, who may be a neurologist or something else and will view themselves as having a limited role, limited to one organ system or two specific issues or an overall direction of care and therefore there's nobody actually coordinating care and and someone has to do that. You're absolutely right, and that's kind of why I was saying earlier, earlier on, in that in each health care system you have to decide how to make this work.
Dr. Simon Jones: 00:31:52 And the health care system that you describe very different from ours, but it can still work as long as someone is doing that coordinating role. And if it's not going to be the University Hospital, then it needs to be someone else and and it may be the GP, especially if the young person, the young adult, is beyond paediatrics and there's no one else doing that role.
Dr. Simon Jones: 00:32:15 And if you or the the GP can, can take up some of that role, making sure that everyone's talking to everyone else and and the needs of the young adult are kept paramount and communication with them is good and they are also part of the whole team and part of the decision- making, then I think that can work equally well. And so there's no perfect system and perfect way to do it. You have to make it work in the system that you work in, because our systems, our health care systems, are not designed for MPS patients.
Dr. Simon Jones: 00:32:51 They're designed for much of the other commoner, much commoner typical health care needs, so we have to make our own system work for MPS patients. Does that sound reasonable?
Dr. Simon Jones: 00:33:04 Would you agree, Jane?
Ms. Jane Roberts: 00:33:08 Absolutely, you just need good coordination and people to make sure the patients are safe at the same time.
Dr. Simon Jones: 00:33:16 Another question is with regards to immunisations and vaccinations for MPS patients. We are very strong in saying that all of our patients should be fully vaccinated according to each country's schedule. Where there's recurrent infections, we'll often check to make sure that there's been immunity against particular vaccinations, particularly the pneumococcus and sometimes our patients have had to have boosters.
Dr. Simon Jones: 00:33:47 That's not because MPS patients have a particular problem with their immune system, it's just because they're much more at risk of recurrent infections because of the functioning structure of their airways and ENT aspects, for example. Our bone marrow transplanted MPS patients have very specific vaccination and immunisation needs, but once again, it's very important that they are protected and revaccinated following transplant, but the transplant teams will usually guide that in particular.
Dr. Simon Jones: 00:34:22 So there's nothing that we avoid completely and we are very supportive of vaccination. Next question is about common kidney or urinary tract involvement of the disease, which is a good question and you've selected, I think, probably the only organ system that isn't particularly involved in MPS diseases.
Dr. Simon Jones: 00:34:54 We know there's a lot of storage in the kidney if you look at biopsies or autopsy samples from our MPS patients, there's a storage in multiple parts of the kidney, particularly the tubules, but there doesn't seem to be a progressive or renal disease that we find. A few of our patients have hypertension, although the etiology of that is hard to know.
Dr. Simon Jones: 00:35:20 We of course measure outcomes of treatment and diagnose our patients by the urinary glycosaminoglycans, which probably reflect tubular storage of gags, which is again, somewhat ironic given that we've just said it's the least involved organ system in the patient's body. But yes, I hope that answers the question. You've picked the easy organ system.
Ms. Jane Roberts: 00:35:46 That's a good question. I didn't realise all the questions were dropping down. Yes, so which is a very early symptom that the paediatrician will alert to investigate the child for MPS and have so earlier pick- ups of patients? That's a really good question and it's something it's really important to be spreading awareness out there. There's lots of literature now about the red flags that the children present with. What do you think the most common one is Simon? I think it is ear infections, hernias. What do you think?
Dr. Simon Jones: 00:36:15 Yes, I mean, it's early in the first year of life. It's typically the relatively soft signs like recurrent ear infections, glue ear, a bit of hearing loss, recurrent rhinorrhoea or persistent rhinorrhoea with the speech delay associated with conductive hearing loss. Then there's often not, there are often not growth issues in the first two or three years of life. There may be hernias sometimes very early on when they're, and some of our patients fail newborn hearing screening tests.
Dr. Simon Jones: 00:36:52 But MPS is not typically, at least in the UK part of the battery of tests that you get tested for if you fail your newborn hearing screening. So we, whilst there are often very early signs for most of our patients, often patients are not diagnosed at that point because there are lots of other causes for ear infections and hernias and those sorts of things. But often it is the generalist rather than the specialist who makes the diagnosis because it's not the ear infection or the hernia that will give away the diagnosis. It's the combination of those.
Dr. Simon Jones: 00:37:29 So that often requires the generalist or the GP or the paediatrician who can step back and look a bit at everything. That is the one who's able to put the pieces of the jigsaw together.
Ms. Jane Roberts: 00:37:39 Yeah, and often you sometimes have the children here, they've already under four or five specialists and they're 18 months old, which to us is a bit of a red flag as well.
Dr. Simon Jones: 00:37:48 Okay, I think we're out of time, beyond our time. And thank you very much. And I apologise, although not too much for you not being able to see me. It's not a great loss for you. But you have been able to see Jane, who's now holding up a picture of me. And thank you for attending and interacting and I hope it's been useful. Thank you, Jane.
Ms. Jane Roberts: 00:38:11 Thanks Simon. See you again. Bye.