Archie, The Six Stone/84 Pound Baby (Rare Disease Documentary) | Real Families

as a mom I wasn't neurotic I wasn't paranoid [Music] I know that this baby that was weighing six stone two years old shouldn't be weighing six stone this is Archie Thompson he's two years old and weighs about six stone as heavy as an average eleven year old he's nearly four foot tall and has a 36 inch waist he can put on as much as one stone in four months even when he has very little to eat Archy is growing out of control and it seems there is nothing anyone can do [Music] hang on Archie thank you [Music] Archie lives by the south coast with his parents Sarah and Nigel he is two older sisters Molly aged four and Robin 11 he's half Molly's age but twice her size [Music] his growth is caused by an extraordinary medical condition doctors know very little about there have only ever been three other children in the world like him in the UK he's one of a kind [Music] why not she was born is every man's dream to have a boy it was my dream come true to have a son I've got two daughters and then have a son you've got the full set then you sort of just think of the future when he's older playing sports canes doing father-and-son things are you going as he was just every dream come true the family was complete then being so big spells trouble for Archie his tiny heart struggles to support his massive frame and he has difficulty breathing all doctors can say for certain is that if he keeps on growing at such a rapid rate he may not live for long he boats out there can you see any goats it's difficult at times but our she is Archie I wouldn't want him any other way in many ways just sometimes wish that he could live an ordinary life Archie was born in January 2002 a normal eight pounds four ounces it was a very strange feeling holding something so small arch he actually got taken into special care at 24 hours old for not being able to feed and he was in special care for three to four days I think laughter which we was allowed to bring him home everybody was excited the girls were excited it was just a great feeling to be able to bring him home it was a day of jubilation really after his initial aversion to feeding Archie was like any other newborn but then everything changed he wasn't a joy to have because he was screaming non-stop and sleep deprivation is probably worse than any torture that they could do to anybody suddenly he just went haywire he was crying all the time he was drinking all the time nothing would settle him we tried everything different sleeping positions different milks we tried everything but he just started putting on the weight he just started ballooning up Archie began to grow a phenomenal rate he was putting on roughly a pound a week or a stone about every four months by one month he weighed over ten pounds by six months over thirty pounds and by his first birthday three stone nine the weight of no seven-year-olds Sarah and Nigel were frightened and at a loss as to what to do we was probably at our lowest point then we got to a point desperation I spoke to the social worker who gave me a number for the local social services and I rang them with a cry for help initially they weren't too keen to help us or didn't know what they could do to help us social services wondered if Sarah might be at fault I didn't know - about two months later that the first thing they did was investigating me for over feeding of Archie which I looking back on it I suppose now they had to do because I could have been doing that but it's a bit ironic when I call them for help they investigate me social services had arch admitted to the local hospital where doctors could monitor how much he was eating but contrary to their suspicions what they found was even more disturbing not only did Archie eat normally but he carried on growing at the same explosive rate regardless of how much or how little he was fed in artists case we were sure that he wasn't eating very large volumes of food and wasn't terribly interested food we do it wasn't purely an intake or a bit high problem but due to his metabolism or the way he actually handles the food that is taken and installs it excessively in the body in Archie it appeared that his body's mechanisms for dealing with food and the production of fat were malfunctioning badly doctors suspected that this might be caused by a genetic disorder one of the many overgrowth syndromes that have been identified in medicine but which one [Music] that's when the ball started rolling different tests different hospital appointments coming up with various different overgrowth syndromes for over a year exhaustive tests and consultations fail to provide a definite answer as to what was wrong with Archie doctors had to rule out the more common overgrowth syndromes one by one as Archie symptoms just didn't seem to fit any his head was abnormally large with a prominent forehead and for some strange reason he had a third nipple he had trouble breathing problems with his eyesight and kept on growing an unprecedented rate by 18 months he was over four and a half stone and by Christmas 2003 five and a half by now he'd also developed a heart problem and was on drugs to control his heartbeat and still doctors were at a loss all Archie's parents Sarah Nigel were told was that they shouldn't count on Archie living for too long since he was a baby Archie Thompson has put on as much as a pound a week on a stone every four months now two and a half Archie weighs six stone as much as an 11-year old doctors have struggled to explain this phenomenal weight gain they knew that he must have some kind of genetic disorder but had no idea which one the only thing his parents Sarah and Nigel were told was that they shouldn't count and Archie survived until along at the moment there isn't a no medication that would switch off the weight gain in our present state of knowledge and it has had very detailed tests and it hasn't given us a lead that would enable us to actually alter the pattern of weight gain so in a sense nobody knows how long he might last no that's true yes Sarah and Nigel struggled to make life as normal as possible for Archie but each new day brings a new problem he's too big to carry upstairs so they have a specially designed six foot square hydraulic cot installed in the living room his waist is so large that he uses adult sized nappies he can't walk and he's too heavy for buggies he needs a wheelchair and a van to get around the equipment helps him cope with his weight but what's far harder is explaining why he's so big in the first place at least now it's accepted he has a genetic condition Archie has a place in the local special school he's the youngest child there by more than two years and he's coming out to play throughout his life doctors have known Archie wasn't being overfed and had a normal appetite this meant that whatever genetic disorder he had it wasn't one making him put on weight because he was eating too much so they searched for a condition that could cause overgrowth without overeating and which could explain the other peculiarities they identified in Archie such as his large head the other conditions which were then raised were a Simpson de la vie syndrome which is known to produce overgrowth can have a slightly unusual shaped rather coarse features in the face and forehead and they are known to have occasional rapid heart rate episodes which had already happened to Archie but a blood test ruled out Simpson gulabi next doctors considered a no-go syndrome known as Sato's after the docs who identified it there's no test for Soto's it's identified through characteristics like a big head and tall height but Sato's doesn't make sufferers as obese as archie and as he kept on growing it too had to be discounted they ran through all the the overgrowth syndromes from Simpson gloppy Sato's Weaver's ruled Amal now because they were saying arch is too big for those overgrowth syndromes there seems to be no answers and without any Sarah and Nigel felt they had to prepare for the worst but just as all hope seemed to be exhausted Archie's case was discussed at a conference of leading experts on genetic diseases and one of the scientists present who'd never even met Archie had a suggestion those in the audience who have seen similar cases before who have read about them more likely suddenly recall literally that perhaps he could be this condition was most likely to be that condition there's a little debate that goes on you really is a case of who can come up with the best fit the best fit seems to be the condition known as Momo Momo stands for macrosomia meaning big body obesity macro carefully meaning big head and ocular or eye anomalies the four key features of Archie's condition it was first identified by doctors in Sao Paulo Brazil in 1993 but little research has been done on the condition largely because there have only ever been three other cases ever identified in the world I was sitting in a room and I'd been given us a name it had label he had something and then stupidly at the time I thought I've got a diagnosis I can find out more about it we can get this fixed we can get this treated little did I know then that nobody else in the UK has it it can't be treated and there isn't effects [Music] no one really knows what Archie's future holds if his weight game will slow down and stop or if he'll keep on expanding until his heart gives out today Archie's described as life limited unlikely to live for long his heartbeat could still race out of control and there's the asthma the weight of fat around his neck is pushing his airway closed for all this Sarah must give him eight different types of medicine a day he's now on long term heart medication he's on blood pressure medication because he's so big so anybody that's never ever seen Archie and they ask what does he look like etcetera etcetera the easiest way to describe him is and if a bloke was 14 it's down three times he's gonna be 42 stone a 42 stone man they don't find it that very easy to move they get cramped like it's stiff and very out breath very hot very sweaty that's actually people look at you and look at me they just assume I eat and he eats and isn't overweight baby should he be eating that should he be having that should it be on a diet I went to go out one day open the door and there was a slimming product on my doorstep and a note saying that they should invent it for babies and it made me feel total crap that I hadn't been able to maybe put across the easel he has a life-threatening condition [Music] barely a week goes by without Nigel having to rush home from work to run Archie into hospital each time he and Sarah fear Archie might die today it's happened because of a persistent chest infection that's getting worse and worse [Music] doctors have already prescribed powerful new asthma drugs to help keep Archie breathing the Medical Teams help as much as they can but with so little known about Momo all they can do is try and deal with each problem as it happens there's nothing they can do about the underlying cause and bit by bit sara is being worn down with knowing nothing of what the future holds for Archie on one hand I've got people telling me you can't take risk that you use an unknown entity don't know what's gonna happen etc etc and then on the other hand you got people saying oh he's not seriously ill easy but you want to try and living like that it's not easy every night watching him this Saturday and Sunday right at Great Ormond Street Hospital in London Sara's come to meet dr. Phil Beals the geneticist who first suggested Archie might have Momo she's looking for answers though Archie he's not in the mood for a consultation dr. bill has been keen to me Archie as part of his research into overgrowth syndromes he's trying to find answers as to how simple errors in genes turn out to be so devastating well simplistically the single simple genetic defect can have a knock-on effect that is amplified within various processes in the body these can affect different systems in the body which then end up with say in Archie's case this propensity to put weight on can end up affecting the eyes can end up affecting growth very little is known about Momo but scientists haven't even found the gene that's malfunctioning to help him do this dr. Beals takes a mouth swab from a reluctant Archie but finding the critical defect in his DNA won't be easy we can only really increase these probabilities of finding genes if we have a lot of families to work with unfortunately in the case of Momo with just three cases described in the world were immediately very challenged in the absence of many Momo cases dr. Beals is attempting to understand it better by comparing it to a similar condition he's investigating known as bard a Beadle syndrome or BBS like Momo bbs causes both obesity and eye problems nothing is known about Momo so we can turn to some of the similar conditions such as BBS where a little bit more is known about the processes that are going wrong and perhaps look at those same processes in children such as Archie who we believe have Momo bails hopes one day to find the gene responsible for Momo he's already found genes that cause BBS which is the first step towards designing drugs to treat the condition such breakthroughs are a long way off probably 10 or 20 years even without any hope of a cure Sarah is determined to keep on fighting for Archie when people tell me that he may not crawl he may not stand he may not do this he may not do that then that's like waving a red rag because through me and my kids we got out she crawled it we got him standing up Archie is now on the verge of taking his first steps but even if he does learn to walk his legs may not support his weight properly and he might limp a day out with friends makes reality hit home they have a little girl who's also 2 years old and Archie's excessive size is painfully apparent just meeting another two-year-old up against my brother it's just like you don't really know because I was the first time me my mum and my stepdad had found out what a natural two-year-old knavish two-year-old would actually look like he gets my brother but a day like this is something Sarah thought she might never see [Music] I suppose what hit me was the fact that I had my three kids there my husband's there they were all happy they were trying to find his bloody Chi I was told his life limited he's an unknown entity and take each day as it comes and the fact that two and a half years later upon a grass bank and he's old enough to realize there's a kite-flying with his sisters with his dad and he hasn't got a care in the world Sarah doesn't know how anymore days like this she can expect with Archie but she's heard that there's a girl in Brazil who was one of the first cases of Momo ever identified and who is now 17 years old sara has decided to go and meet her what this girl and her family have gone through over the years could tell her what the future could hold for Archie it's gonna be hard with communication but to see this lady's daughter can she do normal things at school I don't know she's got Archie's cardiac problems just to find out what I've got in store for me and just to give somebody else a hug a really nice treat you're right I love you it's the day of departure and first Archie has to go into a hospice Nigel just can't cope with him on his own Sarah's very nervous she's never left England before or been separated from her family for such a long time to be able to go over to Brazil I sit down and have a cup of tea with somebody it's got something in common with me and I can't stop if I can go and the mum says to me well we've done this for the last ten years go home don't worry then I knew I was right [Music] Sarah's hope is that if the Brazilian girl has survived having Momo then maybe Archie can too Sal Paulo Brazil a city of 19 million people one of whom is thought to have the same rare genetic condition as Archie his mother Sarah has come here in search of answers do Archean the brazilian girl really both have momo syndrome and if they do can Sarah dare to hope that Archie will also survive when I got to Brazil my first ball honestly very confused very out of my depth it was just a bustle people everywhere cars beeping something totally alien to what I'm used to [Music] sara has to travel to a poor Sal Paulo suburb to meet the girl with Momo she knows little about her only that her name is Danny le forlán and she's 17 [Music] at Archie's age she suffered from obesity and eye problems like he does but sara has no idea what our condition is lying out five minutes before I knew I was getting there the nerves that in it hit me this was a big thing for me I was seeing another child with the same condition as Archie I didn't really know what to expect at that moment it was every emotion rolled into one I just know right this moment in time I won't is either too bright you know I don't know let's see what is [Music] [Music] I can read I can [Music] just yards from Danny Ellie's gate Sara almost loses her nerve hi it's a tense moment both mothers need to be sure that their children's condition is the same if so it will be the first time ever that mothers of children with Momo have met and Sara's desperate to know if Archie might live as long as Danny early Danny Ellie herself is so overcome by the situation she's completely lost for words there to support her is her schoolteacher Katia now a great family friend Sara's first priority is to find out if Danny Ellie at the age of two looked like Archie turns now your daughter is basically the spitting image of of Archie just a lot older um very similar very similar it's just different coloring quite a shock to see once she's reassured that both Archie and Danny Ellie do indeed have Momo Sarah can finally learn what the future might hold for Archie any other meal in a nuclear a simple food I mean Allegra contains a simple code to the moon to a mile where a familiar to ordinary only caboose caboose cream the osmium rapido sassy akuto is no problem sake at the nearly me a nano-sim prep they made wastage course it was an attempt of revenue NATO I saw is probably Madhu PSO de ella no problem I got pea Namco has centered on the minute rebellion and I've had the most realistic ISA piston and people telling me Archie's life limited and make up in here to Brazil has proved what I thought all along that she's funny and he's gonna be here and go to school and get married then play football with his that is enough Tinka coma Thank You Monte a coma may kappa danish Agana datoria okay see you surge it another what see the more they speak the clearer it is that MoMA hasn't destroyed Danny Ali's life I don't even look up for anyways college PC I see me mother seems to do not call a normal yellow simplicity of being a simplified being grab on with me a squeeze to do Labor's turn she in town it's called species and Anika for you Miele same still being Danny Ellie grew up in the poor town near San Paolo where she lives now her weight gain has leveled off since she was a baby Archie's age she also weighed about six stone and she's developed into a happy and prospering teenager although she's heavy she's not dangerously obese doctors in the town where she lives have always struggled to explain what's been wrong with her for a long time her mother preserve us like Sarah felt there were no answers I never trusted scientific theories to me wasn't been to various doctors in their investigations hadn't got anywhere the only thing to do was to put my trust in God and forget about science because in time something would be discovered but in the when or how but in 1993 Danny Ellis case was referred to Professor celluloid man at the University of Sao Paulo an expert on genetic disorders professor Kaufman was to begin with flummoxed by what she saw when the nearly first came we measured the nearly weight her look to her characteristics and when we compared her to other cases in the medical literature the case did not correspond to any already recognized syndrome and we felt that maybe it was a new syndrome examining Danny Ali led the professor to propose Momo as a genetic condition in its own right but having a hitherto unknown syndrome didn't stop Danny Ellie growing up happy and relatively normal like most teenagers she likes having her hair done reading magazines and talking to friends she's also very good at school and even hopes to go to university Daniel has always been a happy cheerful child she's never been said because of her condition the only time she gets annoyed is if too many people are talking to her at the same time that's when she starts to look cross but so enough she's laughing and joking again I looked at photos of her growing up and Archie's age and have features not necessarily her eyes etcetera because she's had problems with her eyes not even related to the to the Momo in the very beginning but I just saw Archie and that was enough for me and to see that she's 17 years 17 years old and she's enjoying music and she's enjoying school I didn't really need anything else I just it was very emotional very very emotional [Music] back in England things are just about carrying on as normal without mum how much do you miss sir we all do hopefully later on I will be speaking to me on the phone with the head bang come from though your school is it yours our last week it's been a big day it's just closure it's just for me it's that black cloud that I've been carrying around with me it's gone yeah it's gone hey dude are you relieved yeah that's what it is it's two years of relief I'm not sad I'm just I've never been are they good emotions yeah yeah it's its closure it's paused not them basically our thought is she a big girl Lauren she's on hefty side she is big but no I don't know perhaps I'm a biased person to look at be it I wouldn't overlook to Erin said Wow but she is big she's got the frontal bossing my heart she's head yeah she's got the bad guy like Archie with his legs quite splayed the Hazara I different but you've got to realize she's yeah so you can walk though Casey yes you can no you I've got a go again okay I got real problems in my chest okay okay just take your time all right sorry okay at this point Sara collapsed so we stopped filming the following day Sara felt well enough to go with preserves to meet professor Kaufman the scientist who first identified the moment the professor's pleased to meet her hearing about Archie helps confirm her diagnosis of Danny Ellie all those years ago her big hope now is that Momo can become more widely recognized by doctors who then be able to spot any other cases they come across anybody else Ikki to me it looks like Archie has the same syndrome as Daniella has no physical danger I was happy because now we can be sure that the nearly really has a new type of syndrome Daniella he'll meet you think it's good for Sara arches magnate who now understands what her son suffers from and has a diagnosis for her son he knows - GoPro filled them Danny Ellie and her mother preserveth have been happy to share their experiences with Sarah and now they have asked her to accompany them to church to cement the bond between them [Music] the family asked if I would go to church and I more than readily accepted I was very religious when I was younger but I lost a faith if you want to call it through the years but I believe there's something out there [Music] if there was a god then why did that why would they do this to anybody not only Archie and I just feel that somebody wanted us to have Archie I felt I was sitting in a room with at least four people that knew what I was feeling where I've never had that before I felt I belonged I can go home and yeah okay Archie has Momo syndrome but at the end of the day what does that mean it's a label and I can picture him at his 18th birthday party sarah has got what she came for the belief that Archie has a future tomorrow she'll go home to England with this newfound hope her family can't wait to see her sara has returned to England with the answers she was seeking the Archie does have a future worth fighting for hi I'm sweet home and not skyscraper inside Sara's News has already got back to dr. Beals for him it's a breakthrough with only two other cases before Archie the corroboration of his diagnosis not only helps MoMA become more widely recognized but gives doctors more to work with in trying to understand it I have to say that I'm relieved because it helps us in a way to confirm our suspicions and I would say that there are certain quite gross facial similarities not just the the weight itself and the general stature which is similar but there are features such as the ridge across the top of the nose for example the shape of the eyes the shape of the mouth it's down slanting these are all features that we see in Archie dr. Beals is still studying the chemical processes that go wrong in overgrowth syndromes understanding these he believes might not only help those who suffer from genetic conditions but everyone because he thinks that the processes which cause runaway obesity like arches may be related to what happens in apparently normal people who put on weight too readily what we need to try and unravel is the processes that are leading to his weight gain if we can understand those at the chemical level for example than perhaps we can begin to understand what's happening not quite to the same degree with the same ferocity but in a lesser way in the general population he's more optimistic that our Chi stands a good chance of reaching adulthood like Danny Ellie I think with careful management I think that the outlook is very good for our G [Music] [Music] one thing I'm not going to do now is my first sentence to everybody I knew I ever meet that doesn't know Archie I'm not going to say he has a rare overgrowth syndrome because they don't need to know that they just need to see the person get stained I need to get up no going away again haven't had a Jason cuppa tea in a wake [Music] Nigel is also relieved that the dark cloud over the family seems to have lifted often it will give Sarah a lot of hope knowing that another sufferer used to live where there's life in actually there is always out and we'll do anything and everything for him we don't know how long we've got Archie for but it does give us hope that Archie will be here for many years to come no one really knows for sure how long Archie will live but now at least the family has cause for hope you don't know how long he's gonna live or anything on how he's gonna stay so I think he's the most precious in my life at the moment and probably if he if he lives like up to face I mean he'll be like most pushy smile in the whole of my life forever [Music] sarah has only ever wanted a happy family life now with the hope that in time our cheese growth will slow down she has the confidence to believe it might just happen the one Archie to learn to grab life I won't Archie to learn to achieve to his ability to make him happy not to make me happy not to make Nigel happy but to make himself happy I don't want him ever to be ashamed I don't want him to feel he's disappointed anybody in any way [Music] basically I'll go back to what I say every single time if he can smile at one person one day every day then as a cost a penny I know I know he's happy just don't take things for granted and take life by the horns and just bloody live it really [Music]

Channel: Real Families

Views: 513,755

Keywords: Real Families, Full documentary, Parenting Documentary, Tips for parents, Full episodes, Extraordinary people, Rare diseases, rare diseases documentary, momo disease, archie the six stone baby, overweight children, parenting

Id: NupkbfElaPw

Length: 45min 53sec (2753 seconds)

Published: Thu Jul 09 2020