Forging A Future For Our Special Needs Children | On The Red Dot | Undiagnosed - Part 4

foreign [Music] fingers since we are now traveling I think the number one concern that we had is how do we take care of atira as we fly they did actually tell our children our girls that Jayden is part of their responsibility when we are no longer around we have been doing many many tests over the years since I've seen that since it's so young I think this time we really do have an answer [Music] yeah has progressed doctor is the principal doctor for zakira despite our intervention and all we are still unable to speak they do have other medical issues such as the orthopedic ENT and also the idle shoes oh that's you good boy zacon had a problem with the gut he had problem with his development and also his head size was not growing well so when there are multiple systems involved people try to think of a diagnosis that explains it all and usually genetics is one that we think about we didn't have a diagnosis as we got new tests access to better technology each time we would actually run the genetic test for them and really want to pursue it until we find a diagnosis this question has been with me for the past 17 years but while the twins like what they are has to be some clinical medical explanation to the condition there are a few discoveries that we wanted to share with you the newest technology that we have it's called long read sequencing it actually reads very big chunks of the genes and one go rather than very small areas so it allows us to look at certain areas of the genes that we couldn't see last time it's a new technique that allows us to see the gene at the fact that this time when we looked there was part of that Gene missing this tree is very important in the formation of neurons and the development of neurons and that's why it leads to learning disabilities and explain some of these developmental issues that they have but you need to take a bit of blood from both of them and also for yourselves just to confirm this finding of a deletion in this Gene this is just to make sure that what we found are only in the two of them and not the rest of you that this is the cause of their problems we will get back to you with an answer and that can take a couple of months up to even a year [Applause] [Music] I'm glad at least there is some explanation to what zakirakon is having I'm not sure if it will make much difference now because they are really 17 perhaps if we had known earlier there could be even more that we could do for them your other children are coming on other days yes they are also quite anxious to try not especially my daughter yes what happens when she has her own children how does it affect them right in most cases it only happens in the patients meaning that when we test the rest of the family we actually don't expect to find this genetic change at all for your daughter it doesn't have to be worried that she will have also these problems in her children in the future after all these years you have been patiently trying out whatever test that we've offered to you thank you for your patience and I think it finally is paying off it doesn't mean that we have a cure in terms of medication or anything I don't think that's what we were really looking for I think we were just looking for an answer yes that's right until the final results are out I still have the doubts in me about the condition so hopefully if there's a proper diagnosis that we can help the twins develop further intellectually or physically it's 3am now and we are traveling to the airport our only concerned during the journey is atira and her epilepsy attacks Journey can be exhausting and we hope she does not have her attack and we arrive safely in mind [Music] [Music] [Laughter] thank you my husband Anand is turning 50 and we are going to celebrate with the rest of the family ever since we came to Singapore in 2011 this is going to be the longest trip for Raza in Mangalore we are going to be there for around five weeks [Music] have been diagnosed with a condition called jamwar syndrome this is about a gene called the ugdh variant Gene that has not been passed on to our children by both my husband and I and this missing Gene is the cause of low muscle tone epilepsy developmental delay speech delay that our children are facing did you meet everybody is Sienna happy yeah yeah very good atira are you happy atira is tired after the journey today's Journey was hectic and tiring but all the more all of us were happy that we are going to our hometown yes this trip we are planning to tell our parents and family of what the final diagnosis about something which they will not easily understand [Music] going to bring you to the park [Music] yes yes I know you're very happy he's low muscle tone so when Jaden put on his shoe we had to actually put on this support to help him walk better on his own [Music] huh he enjoyed going out with the siblings the last time we had a football outing was during the June holidays it's been quite difficult to find a time with all our schedules can you go over to the McDonald over there and help us get some food okay let's go yeah let's go he's drizzling so we have to find an alternative location for our picnic so we found this shelter and while waiting for the sister to get the food I have to keep him entertained he loves bubbles crunch office his finger fine motor skin is not very strong so these are some exercises that I will introduced during play time now yeah just to get him to work that part of the muscle my husband is out of town on the entire year probably maybe two-thirds of his time will have to actually spend overseas can be a little bit Challenger because as children grows bigger his weight actually requires two persons sometimes to handle him kids that were 30 40 years were recently being diagnosed with a burra syndrome so we sort of know that Jaden's lifespan could cross that so we need to actually prepare for when we are no longer around yeah right slowly you don't think there's nothing there right now we're like trying to take responsibility over from our helper on like our parents to see whether we can take care of him on our own can you bounce show him you need to bounce bounce bounce our parents have told us like what are your plans for future if they are no longer around the best case scenario is that one of us can live like in the same house or opposite Jaden ah so hopefully in future Jaden is able to feed himself so that we don't have to really like worry that much about him oh yeah it's a very daunting thing to think about the future especially for them is such a young age part of me wants to go overseas to like study um but then there's also the thing at the back of my head which is to take into consideration of Jaden's needs someone has to be able to look after him I also wanted to go overseas in the future I was thinking maybe we could take turns not three of us transform your hands transform move up okay right now I'm going to the age where I have to start thinking about family plannings I'm not really sure whether I'll be able to start a family because I don't want to end extra burden or like the camera family and then naked Jaden since they're still in school once I start working most of the burden should fall on me first so that's why for that aspect I'm still a bit hesitant let's go I think as long as we try to get Jayden to be more independent then the burden would be not as bad on us his approach for life is very happy go lucky just seeing him freaking Carefree helps us power through the tough times that we are enduring [Music] [Music] it was in the month of December 2003 and she born in Bangalore her daddy first lifted her then we also lifted and saw her so we became proud grandparents when she became three years old she was not speaking she was not working at that time the normal baby is to do such so many things but our baby was not doing when second may be born we prayed with God that this girl may be a normal girl she was better than atira she was responding very much then we came to know that she is not normal children we love them very much [Music] [Music] [Music] um today Suman and me wanted to reveal and tell you what the genetic doctors have discovered that both atira and Siena have a genetic syndrome and this genetic syndrome stems from a lack of a protein because the genes have not passed through them so these genes are both given from the parents both the parents and if either one of the parents passed his genes they would be normal kids because both of us me and someone have not passed it on it is not generating that protein in their brain so that is causing their disability of learning their motor movements there is no medication for now for these children now they won't help correct research will happen but for them probably they will not have that benefit [Music] [Music] foreign and if you've always been positive with our children so we only ask you all to pray for them and also to bless them always we are also praying and we are also loving our children very much [Music] we have finally come met the grandparents told them what this is all about right so it kind of closes a chapter foreign okay we're gonna fry eight pieces today huh Jaden usually is not allowed in the kitchen because we are afraid that he oppose a danger to himself Jayden has been learning to cook in school so doing the Chinese New Year uh if we allow him to prepare one dish to actually offer to the ancestor operated a three one two three okay Our Hope for him is to be able to have some basic skills just walking cooking is one of it being able to fit by himself or drink by himself is it nice one year ago if you pass a spoon to him he would just drop off the spoon but now we see that he's making some progress very good we are the parents of one of the first few cases of bura syndrome children in Singapore it's not easy but having the diagnosis actually allow us to find out about this international support group you will feel that you are not alone now the art experience it may not be exactly like what Jayden has but at least it gave us a different perspective on how to deal with it this episode of the uncontrolled eye movement has been actually occurring more and more frequently so our parents they say that it's actually over stimulations but then Dr Light also alerted us that it could actually be a seizure so she's trying to get in touch with Jaden's neurology to bring forward his appointment I think at this juncture we're just trying to be mentally prepared wow see what am I going to putting tomato right bring the tomato for us it's always hope that we might one day find a cure we don't want to burden the other kids but Jaden's little achievements every step of the way is a small win I think as long as Jaden keeps on giggling keep on laughing I think we did our best yeah [Music] yeah [Applause] we are here today at the queen school for his award ceremony he's actually receiving the married award this year he has shown a lot of blue gray in his learning the representation of the means of minutes [Applause] [Music] thank you in spite of all the challenges that we have been along the way Jackie zakwan has grown up quite well we had a lot of feedback from the teachers from people around us when they see their kids at when they see so much improvement so we are quite proud of them [Music] all right [Music] thank you today is a very exciting day for all of us because I'm in the stunning 50. [Music] give me [Music] foreign [Music] the last time that we were here it was before the diagnosis was completed diagnosis now we can explain to everyone it's a genetic syndrome and it has got a name now for jamwar syndrome so they've kind of taken that message well and hopefully they provide that support on managing them as their grandkids as their cousins as their nieces [Music] our trip in India is coming to an we have had a nice time with family and friends athira hasn't got any relapse of her epilepsy episode that is a good news [Music] I just hope that that treatment would be found for our children and our children are able to live a normal life [Music] foreign [Music] good morning [Music] [Music]

Channel: CNA Insider

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Length: 23min 20sec (1400 seconds)

Published: Wed Mar 29 2023