Caring For Our Children With Rare Genetic Disorders | On The Red Dot | Undiagnosed - Part 3

foreign [Music] foreign [Music] that's where our two other children is taking some responsibility in taking care of the twins we know from the latest paper in 2021 that 60 of individual Superior syndrome will develop seizures and they tend to develop at up till the age of 18 years Jayden is turning 18 next year it's important for his parents to be aware of this risk [Music] foreign [Music] she was very tired for a few days after that a seizures itself was it just one episode that was long or many episodes how long did it go did you have to give the Rector yeah around six minutes okay and then at nine minutes uh the jerks actually went a bit more stronger that was when we called the ambulance but then by the time she reached Changi the seizure had stopped yeah yeah 15 minutes she was off medication for 13 years and then now she started again yeah so we know that children who have Jamar syndrome are at risk of seizures and in the patients that we had reported many of them had severe seizures which started off when they were babies and persisted on but atira she was relatively well but for some reason her seizures have come back we don't fully understand why and now we just have to take a step back start her on the medication and then see how she goes we are traveling okay we're going back to Hometown okay and how long have you gone for almost a month they're relatively well but the risk is again you know with any stress or decision happens just make sure that the rectal that the farm is with you okay bring it on the plane because you don't want her to be seizing on the plane we are going to Kiki hospital to see Dr Lai the genetic doctor this is a annual visit Dr Light will be checking on his development since last visit Jaden has been progressing well he is able to actually walk further without our assistance he's starting to explore more on fine motor skill as well so for example things such as like a TV remote he's able to control it one morning we woke up he switched on the TV by himself foreign this year we like to check out with Dr Lai does kk still see such special kids after the age of 18 if not then what is the next step of follow-up for him and then recently we observed that during feeding time Jaden has been having those kind of very uncontrolled eye moment quite a lot so we wanted to actually chat with Dr Lai whether is there anything that we need to pay special attention on that aspect doctor going to check on you okay yeah that's what I'm dead yeah very good okay come good job good job Jayden you're working so much better okay you want to sit down now okay okay Jaden's always progressing he is walking around on his own with many other patients with pure syndrome actually still can't do oh [Music] foreign how is he otherwise we realize that there's some behavior during feeding time he has this uncontrolled eye movement oh okay we wondered whether is it a we call that a seizure a seizure is it a seizure it doesn't look very typically like a seizure yeah however because you know that children with pure syndrome they have a higher risk of serious yeah so it would be safer I think to let his neural doctor know about it maybe just do a EEG test okay just to see whether it is really seizures or not all right so there was just one recent paper talking about epilepsy in children with pure syndrome and they said that about 60 percent of them have seizures yes and the age group some of them started only when they were around 18. so I think it's something that we just need to keep an eye out for which is why we also refer back to the neurologist about the eye twitching eye movement the usual type of seizures is the type you know where they have jerking and they usually will lose consciousness so in the event that you observe such movements in Jaden it's important to put him down on a flat surface right turn him to the side during the fit actually they are not breathing because their body is in the spasm so the positioning is the most important okay so you allow the airway to remain open and not locked by the Tongue okay when Dr Light shares the information about poor kids having a sister on the age of 18 onwards where I was actually shocked she's already very near to the age group we are concerned about this rapid eye movement it could be an onset to seizure so from now on we have to be prepared for seizure to occur and then to make sure that the place around him is safe so that he don't land himself up in a situation where he can hurt Judy is going to be 18 next year so there will be big change in his medical care as well [Music] look here press when I was younger I had always thought that it would just be me my older brother and my parents oh baby brothers twins [Music] when I had my documentary module in Bali I saw it as a chance to tell my brother's story because I think it's not really talked about as much as other conditions it was also a chance for me to tell my mom a story this is my mom Nora she has been taking care of them ever since they were born despite all before making the dokyo me and my mom we didn't really talk about how she took care of Zaki zakwan I was quite Young when were born we're only four years apart so I wasn't aware of what was going on when I was younger I remember seeing my parents bring Zaki zakwan to the hospital a lot I didn't realize that it was unusual I thought it was normal for children to be brought to the hospital I think I had a realization that zakizaka had special needs when they were seven other children we would go to Primary School like primary one but I still couldn't talk and they still couldn't recognize any alphabets my mom doesn't really show her emotions in front of me she doesn't like to show us her weakness she doesn't really let it show that it's affecting her though I know it must be very mentally draining for her as well I think the documentary made me more aware about what my mom went through [Music] even you might not around you still have your brother and your sister Michelle now we will meet [Music] in Jannah together and by then I hope to hear you call me on my and they were seven it was also when I realized that my older brother and I would have to take care of them in the future at the point of time it was also when my sense of responsibility kicked in I guess like I became more protective about them sometimes I think that oh what if I have the gene in me too I think if there could be an answer about the condition it would also better prepare me if I want to have children and whether it will affect them [Music] so we are going to India back home town to Mangalore come today let's book our tickets traveling to India is always exciting for us because that is the time children bond with the grandparents and the other relatives their cousins especially the last time that we traveled to India was in 2019 responds much better now than what she did in 2019. Tiana too she's more verbal now and I'm sure now they will bond better with their relatives because they are able to probably show that affection talk to them better foreign [Music] moved to Singapore in 2010 and prior to that we used to live in India back in India the social acceptance is not great there are some instances where our children were you know not accepted in the play area [Music] walk [Music] no to move there was a parent who was trying to avoid bringing her child to the playground when natera was around so seeing our children not being welcomed we were feeling that pain we always received unsolicited advice from many people there were instances where we were blamed for us it always add stress to whatever already going through in 2019 there was no diagnosis for their condition now that we have the diagnosis we want to tell our parents about it on video calls we have shared to our parents about this research but this is a good opportunity for us to talk in person to them and explain to them more in detail about the diagnosis atira and Sienna have been diagnosed with jammuar syndrome and missing Gene is the cause of the condition my husband and I have not passed on this Gene to our children so while we are excited to meet family we are also a little anxious that we are revealing this diagnosis to them Jayden is 17 this year then going to 18 next year so I understand kka Hospital usually sees children's which is below 18 years so then what is next in plan for Jaden usually we are slowly transition to the adult cat it won't be immediate we will actually reach out to colleague in the adult Hospital who is comfortable taking care and familiar with the conditions for adults with furious syndrome we will also share Jaden medical summary with them so that they at least know from the early years until now what his medical conditions is to help with the care after that the transition there's no fixed period okay he'll still feel more comfortable coming back just to check in with us so we can continue that overlap period but at least there will be doctors in the adult Health Care institution who know about Jaden's condition and can help if emergency or other Specialties are needed we would like to also obviously continue to see and monitor new developments in this or perhaps look at maybe in the future maybe there's a treatment plan for him yes so because it's so red and you know Jayden is only one of two patients in Singapore with pure syndrome let's also go for us to continue to see him so that we can update you about any new research yeah that'll be good because pure syndrome is quite recently diagnosed we don't really know what's the long-term prognosis Jada might be one of the older ones that I have been diagnosed so I think in that sense the long-term Outlook is uncertain however looking at Jaden himself he has already shown great progress and he is able to participate in all his family's activities very richly and I think happily and I hope that he will continue to be able to do that thank you so much I got a lot of new information this that we know that Dr uden's main doctors in the next few years there are uncertainty also with regards to how soon my son will be able to adapt to the new doctor the other part of course is because Pura syndrome is a very brand new rare disease we hope that the other dog in the other cleaning or Hospital side will also be up to date in terms of information there's now more knowledge to be able to handle the transition going forward but the fear for him is who's going to take care of him how is he going to take care of himself when we are no longer around right [Music] [Music] oh ever since young we've always been sharing our rooms like the four of us Judy will be the one using it to sleep most of the time since he always take like at least one afternoon nap and then sleep very early that means that sometimes we can't go into that room unless we're sure that we want to rest sometimes he also likes to wake up in the middle of the night and he just goes out we have to bring him back to sleep because if we don't take care of him he who knows what he will do it's very very complicated having to carry him back to his bed as well and then try to like pet him to sleep initially we thought that oh because he wouldn't be like well adapted to sleeping by himself because he's so used to sleeping with him but since we moved in general is actually stuck quite well and he's fine with sleeping on his own he hasn't wandered out and now so far finally we can sleep it's still like taking some time to add that but so far he's liking the space he's more comfortable than our older house now that he's his own room we have seen more instances of him just playing in that room by himself sensory stuff we currently have like different colored lights that are installed in a house that can change with a festival switch and sometimes you use these lights to help entertain him like the choo choo train he likes the children [Music] yeah essentially his source of entertainment but I wouldn't say that our job is to be an Entertainer I think our job is just to be a sibling I'm just joking yeah yeah now we try to help him with trolls such as like feeding him and stuff and we did actually tell our children our girls that Jayden is part of their life part of their responsibility when we are no longer around yeah so that was also the decision we have more children because we don't want just one when she shoulder the entire caregiving burden I'll be glad if he can actually lead a life with the sibling supervision over him with the help of a caregiver Sienna you're going to help Mama okay let's pack yes we are going to travel tomorrow uh early morning is our flight to Mangalore a few weeks back atira had an episode of epilepsy she was admitted at CGH because of the recent episode that athira had we are a bit concerned because we do not want athira to get any epileptic attack during the travel since then the doctor has put atira back on the epilepsy medication the doctor has also prescribed emergency suppositories which we need to administer to atira in case of any epileptic attack which is more than five minutes so this is the suppository that is to be administered we have to lay the child in the right position open the tube here and then insert it gently into the rectum and then squeeze it but in an airport or in an aircraft it's going to be quite challenging foreign I was like vomiting almost every day I couldn't even drink plain water I couldn't take any of the medication that was given either it made me wonder if that could be one of the reason why the kids are going to turn out to be like this was it because I didn't take care of myself during my pregnancy okay I've always been working since they were born so I feel that I could have done more if I had been there with them at home there's always this guilt of not doing as much as you could today we have an appointment with Dr Tan we want to get some updates on the research that she has done we've had a few tests before blood samples were taken from us and also from our other children so far there's nothing new that they have found [Music] hello you want to sit down oh you want to walk around hi has been the Principal doctor for both of them since they were they were one years old she's the development of the twins both physically intellectually and of course find out every underlying cause of the conditions okay with you we have been doing many many tests over the years and every time we do you know there has not been any reason that we could find for their condition the last round we actually use a new technology to look at the genes the areas that we couldn't see previously I think this time we really do have an answer [Music] right now we're like trying to see whether we can take care of Jaden on our own part of me wants to go overseas to like study but then there's also the thing at the back of my head which is to take into consideration Jayden's needs all these years we have been very very patient and I think it finally is paying off actually I'm not sure how I feel about this new finding we've actually landed in Mangalore Hometown and this trip we are planning to tell our parents the final diagnosis for atira and CNR so today um Suman and me wanted to reveal what has happened on the research that is done in Singapore [Music]

Channel: CNA Insider

Views: 69,173

Keywords: jamuar syndrome, epilepsy, pura syndrome

Id: goH9bDpNtFE

Length: 22min 55sec (1375 seconds)

Published: Wed Mar 22 2023