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 trisomy 8 mosaic
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| Author | Topic: trisomy 8 mosaic |
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kschmidt Member |
posted 06-01-2005 11:29 PM
   
I am following a little boy with trisomy 8 mosaicism. Father asked me about how old is oldest living affected, what is lifespan for most, and is there increased risk for leukemia. I would be very pleased to hear from those taking care of these children what their experience has been and if children die young what has been the cause of death. Thanks, ------------------ IP: 150.216.217.52 |
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chewitt Member |
posted 11-29-2005 09:27 AM
I have a 30 year old daughter diagnosed with Trisomy 8 mosaic and against all odds she appears to be "normal". Her constant symptom appears to be mouth ulcers which have plagued her since childhood. I would be interested to hear any info you have re this syndrome. My best wishes to your case study and his family. Regards, Christine Hewitt IP: 60.226.114.108 |
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mendozakathryn Member |
posted 02-11-2006 01:22 AM
My sister has Trisomy 8 mosaic and she's 34 years old. She does not have leukemia, but has had multiple physical and learning disabilities. I just found a great website for families "www.rarechromo.org" or email "info@rarechromo.org" for more info. They sent me a FABULOUS 12-page pamphlet just about trisomy 8, which I am thrilled about. The little bit I've found on the net is mostly for doctors/ VERY hard to understand. Best of luck and email me if you have any questions. IP: 24.180.11.226 |
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wiccantopaz Member |
posted 03-08-2006 04:48 PM
My son is 26 and he has trisomy 8. He has moderate mental retardation and many physical problems. He did graduate regular (not special ed) high school at age 20. He currently lives in a halfway house and has a job in a retail environment. He is a happy person and seems to have come to terms with his challenges. He is unable to drive so he rides the bus. I have only met one other person with trisomy 8 and it was a girl here in Iowa. Her physical and mental capabilities were much more affected than my son's. IP: 205.221.16.105 |
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tracey Member |
posted 03-28-2006 07:12 AM
Hi, My 5 year old son Sam has suspected trisomy 8 mosaicism. I say 'suspected' as his blood sample showed nothing but his tissue sample came back as 'intriguing' according to the genticist. Only 1% of the cells showed the trisomy but according to what I have read, the number of cells with the trisomy is irrelevant to the severity of the 'condition'. It is also a very vague diagnosis as the delay can be mild to severe therefore a prognosis difficult to give. I have also read about a link to leukeamia but my geneticist seems to doubt that there is an increase with people with trisomy 8 mosaicisim. I am very interested to hear from anyone who might know something about this. Sam is delayed in all areas of development, specifically his fine motor and his speech but he is a lovely, happy affectionate little boy. He is healthy so far. He wears glasses for his long sightedness and was born with a bilateral strabismus which was improved with surgery at 15 months. He has deep plantar creases between his big toe and second toe. He will go to a special class at a mainstream school next year. We do speech and occupational therapy weekly. He has two younger siblings, a sister and brother that are developing fine. Looking forward to hearing anyone who may be able to share their experiences with me, any obstacles and what therapy/therapies/techniques were most helpful in overcoming these. Tracey Youssef [This message has been edited by tracey (edited 03-28-2006).] IP: 211.31.40.140 |
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faithandhope Member |
posted 04-25-2006 05:22 PM
quote: I have a 3 year old son with Mosaic Trisomy 8. He has been in OT, Speech and PT since he was 10 months old. (B/c they did not diagnos him until 8 months old) I initally thought there was a problem when he was 6 months old and not lifting his head.He is progressing nicely. He is on target with fine motor skills and as close as he can get to phsical because he is very small but his speech is still delayed. He is currently 25 lbs and wears 18 month clothes. He had a tethered spinal cord that was found last year and fixed via nuero surgery. He cries signifigantly, he is uncontrolable at times. I recently relocated to GA from Washington DC and the doctor I met here thinks he has PDD (Purvasive Developmental Disorder) which is what Autism falls under. My son "zones out" alot, he is easily frustrated. For the most part-he looks like a normal child. He is really small. He is always happy, happier then a normal child for sure! He is very loveable and affectionate. Recently he started crying alot more and alot more so I took him to the doctor which promted the dr. to think he is PDD. If you are ever looking to move somewhere that will be best for your child, Washington DC was the place. They provided to me, free of charge with no income limitations/restrictions, daycare at a private facility that housed therpists, transportation, equiptment (nebulizer, managed care insurance for special needs kids, it was great. Here in GA where I moved none of this is avilable to him. The think that upsets me is the lack of knowledge about this Trisomy. Had some doctor at some point determined that he would have behavior problems then he would have already been in therapy to prevent them and would not be suffering as he is now. I believe that he goes into states where he does not realize anyone is there, he gets violent and dillusional. (spell?) He has been to every type of doctor possible and nothing has been found wrong with any part of his body, organs, etc. I just recently learned that his is prone to cancer. :-( :-( :-( I have always felt that once he learns his way he will lead a normal life. Most people that meet him think he is a year younger then he is, not retarded. IP: 12.150.97.254 |
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Debra Member |
posted 05-24-2006 11:30 PM
I have a 22 year old son with Mosaic Trisomy 8. He is a delight. He has had several physical and mental challenges. His IQ is around 60. He is still living at home,but works at Burgerking 2 hours a day. He was prone to severe tantrums until he turned 5 which was when he started to speak and be understood. It is still difficult for people to understand him, but he is able to spell the words. He loves to read. He just learned how to swim. He takes care of his self and does all his laundry. We are working on cooking and preparing food. He is a very happy young man. He also had severe blisters in his mouth when he was run down. We started using a natural toothpaste without SLS and he only gets them once or twice a year now. He will never be able to drive but he now schedules his own pickup and dropoff by paratransit. He loves the feeling of independence. [This message has been edited by Debra (edited 12-15-2006).] IP: 65.106.76.162 |
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MelindaR Member |
posted 06-29-2006 05:43 PM
My sister had trisomy 8. I'm sorry, I don't know whether she was mosaic, but she probably was. I haven't wanted to ask my mother, who was invovled in her medical care. Where to start? She was small and pretty (all the women are petite in our family) and always looked younger than her age (so did I and my mom in our youth, but not so much as she did.) I don't think she had any gross organ dysfunctions, and she was a good deal more intelligent and talented than average (although she did have some early delays in speech development.) She went to a prestigious private college for her BA and later earned an MA in education. She put this to good use teaching at a Navaho reservation in New Mexico. She was also a gifted painter who was starting to get represented in some galleries, as well as a very good juggler. She was interested in theatre, and sometimes took part in amateur productions. Here is the worse side of things. Her illness seemed to begin in early childhood with alarmingly high fevers that came out of "nowhere" whenever we went on a trip or when she got stressed. The fevers ended in childhood, but like some others with her condition, she suffered all her life from bouts of sores that were not only in her mouth, but all the way down her digestive tract and even in her vagina. (Once an ulcer in her intestine burst and if she had not been rushed to the hospital for emergency surgery, she would have died.) She also suffered periodically from rheumatoid arthritis. Her immune system was obviously a mess, but she didn't get sick very often with illnesses like colds and flus. Her final illness was characterized at its onset by fevers and exhaustion. She thought it was a lingering flu, but upon examination at the local hospital the doctors suspected leukemia. AML was confirmed, and they began chemotherapy at once. Sometime during the time she was being treated they confirmed the trisomy 8. They never got the leukemia under control with chemo so that transfusions or other therapies could have been possible. All the same, the oncologist told us that if she had been successfully treated, the leukemia would have repeated until it eventually took her down. This final illness was diagnosed in early June of 2004 and she died at the age of 28 about 3 1/2 months later. The last thing I would like to share with you here is that her condition was somewhat helped by diet. Until the very end of her life, nobody knew what was causing all of her mysterious illnesses. Our parents took her to every kind of specialist, but nobody could provide a satisfactory answer. There was one nutritional therapist, however, who was able to help her. He told her to exclude or limit as much as possible: wheat, dairy, sugar, citrus, and all plants of the nightshade family (these include potatoes, peppers, and tomatoes.) Alcohol, tobacco, and junk foods were obviously also taboo. The more she kept to this diet, the less she seemed to suffer from outbreaks of sores, arthritis, and general sickness. For those of you who are "following" children, please look into removing these foods from their diets and see if it helps. IP: 194.228.165.112 |
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Kaleb Member |
posted 08-11-2006 06:37 PM
Hi my name is Amy I am a 25 year old single mother of two. My son Kaleb has Trisomy 8 mosaicism. He is currently two and a half. When I was pregnat with him we new there was something different about the pregnacy. I had three extra pockets of fluid and a 8lb baby I was caring around. So we were aware of there being kindney issues and we new he was missing his corpus collosum (spelling might be off) It is the seam of the brain which handles the communication between the two hemispheres of the brain. That is what I was told anyway. With knowing this information while I was pregnat it was suggested that I get an amio done so I did and nothing came back about it. I scheduled a c-section because I was afraid he would not be able to make it through a regular delivery. Even though I new there were issues I still wanted this baby very much so. So I delivered Kaleb on Jan 28 2004. When they broke my water it sounded like a five pound bucket of water being dumped on the floor. They went to hand him to me and quickly pulled him back because Kaleb turned completely blue. They then kept him over night to see his progress. He would not eat, he kept choking and his tone was so low that it was hard to hold him. Everytime you would his neck would move a certain way and his breathing would be shut off. That night the arrangments for Kaleb to go to Cincinnati Childrens RICNIC unit were set in motion. He would go the next morning. The pain of the prior c-section did not matter at that time I told them to release me to go with him they said they would on one stipulation that I would come back and stay one more night. It was done. That day they set him up with so many test it was overwhelming. They came to me a couple of days later with everything that was "wrong" with him and put it all under the name of Trisomy 8 mosacism syndrome. At the time I had no idea all the different things that fall under that name. Of course Kaleb seemed to have almost everyone of the symptoms of this chromosome disorder. He aquired five surgerys three of which he received within the two and a half months he stayed at childrens hospital. Kaleb is in MRDD and OT, PT, Speech, and he follows up with High Risk. Kaleb is very small for his age. He has spoke words like mama and dada, hi but has not for awaile now. I have tought him sign laungage which has helped a lot with his frushtrating fits. I am unable to work because when Kaleb is in daycare he ends up spending more time at the hospital than I end up working. When he gets sick now I take him to the Chiropractor do to not wanting all the medications pumped into him all the time, his hair was so brittle and all the IV holes were horrible. With the chiropractor it takes about a week for him to fully recover. I have found that he is very sensitive or responsive to craneal work. I was introduced to it by his OT. Everytime he becomes overwhelmed or has fits or doesnt listen very well I take him weekly for OT and she does the craneal work and he is completly different. Kaleb listens very well and is very lovable as well. It is almost like he knows he just cant experess what he wants to. Everything has been step by step with him and then back stepping and tring to get moving again. I think most doctors dont know what to excpect out of a Trisomy 8 child. When I take him to a Doctor at the emergancy room and begin to tell them they kind of get this glased look over there eyes and run to find help.LOL It has been hard with Kaleb but I would not trade it for the world he has been such a heaven sent blessing. He has opened my eyes to so many things. I dont know how long he will be here but I will sure charish all the time I have!!! IP: 66.117.245.129 |
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ChrisBuzon Member |
posted 07-11-2007 08:27 PM
Hi there! I also have a brother with Trisomy 8. He is 29 years old. We live in Edmonton, Alberta, Canada. There are a few things that have plagued him through the years, such as Osteoporosis, extreme growth (he is 6'8" at about 100lbs) very large hands and feet (size 16-17) mouth sores, and some speach and learning disabilities. There are a few other issues that arise from time to time, but for the most part he his very happy and healthy. He holds a stable job working at a pet store - and he has a lot of experience working with animals in the past. All animals seem to have a very strong bond with him, and he has a true fascination with everything alive. He lives at home with my parents, but probably could handle living by himself if he had someone check in on him from time to time. He spends countless hours playing online video games, from which he has been able to drastically improve his social skills. Most problems seem to arise from other peoples inability to accept him. His obvious physical characteristics makes him noticably different - but that is another barrier that has been overcome with the ability to communicate with others around the world in video game chatrooms. I love my brother very much, and im happy to see him in the niche that he has carved for himself. I'm also glad to see so many others in this thread trying to understand the condition and find others to share experiences. I (and my Mom) would love to hear from anyone out there directly. Feel free to email me anytime! Chris Buzon IP: 204.50.199.4 |
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ISIS3&3 Member |
posted 03-06-2008 05:00 AM
hello......i was reading all these posts about people young & old with trisomy8, i was like wow...........there are more with this condition. i have a 7month old with trisomy8.....the diagnosis was discovered when i was 4months pregnant......i know very little of this. yet not only was my son diagnosed with trisomy8 but also 22 & dextracardia as well. all the info i get from the doctors are about more tests because they don't know anything......i don't know where else to go now. IP: 24.44.90.232 |
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PatsMom Member |
posted 03-29-2008 07:49 AM
My son is 16 yrs old with Trisomy 8, 77% mosaic. He has a variety of physical ailments, some severe, some less severe. His greatest problem being his kidneys. He has bilateral hydronephrosis. He's had 2 kidney surgeries and we are maintaining for now. He's had mecklesdiverticulum, an apparent intestine growing out of the stomach lining, which caused tremendous intestine bleeding requiring stomach surgery. He's had 4 other minor surgeries on his eyes and a double hernia. He also suffers from those terrible mouth sores, made worse now by the braces on his teeth. He also has very large hands and feet. He's only 5'2", but wears a size 13 shoe, so far. The high fevers stopped at about age 12, thank God! Mentally, he's about an IQ 73 and he struggles, but does amazingly well under the circumstances. He is homeschooled and can read approximately 10th grade level. He also loves animals, all animals, but especially dogs. I hope he will work with animals in the future. He is well adjusted and is a happy and loving kid. I hope this information will be helpful to another mom like me, who couldn't find anyone to relate to until I found this website. I know we will deal with more issues in the future, but for now all is well. God bless you all. [This message has been edited by PatsMom (edited 03-29-2008).] Today is 7-26-12. Patrick is starting with another fever. Two years ago he had the fevers lasting 5 days, spiking from 103-104 every 2 weeks for 3 months, all summer! We slowed down to a couple in the year of 2011, and now we're starting again. Rheumatology calls it PfAPA, but I don't believe it. I think Trisomy 8 has it's own fever syndrome. I try to be calm after each one but I'm always nervous. I wish there was more research on our Trisomy 8 kids. The mouth sores have been helped with Colchicine but not eliminated Saw new Rheumatologist today at UCLA. I think they know that Trisomy 8 has it's own syndrome. They suggest going to the NIH in Maryland for research. I have looked into this but I have to pay the flights and my room. coming from California this is pricey, but I don't think we have a choice. [This message has been edited by PatsMom (edited 07-27-2012).] [This message has been edited by PatsMom (edited 07-28-2012).] IP: 71.80.172.119 |
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kylielam Member |
posted 07-09-2009 02:28 PM
hi, i don't know anybody with Trisomy 8, but i am doing some research on Trisomy 8..and i would like to share this information so those who are expecting children with Trisomy 8 can be mentally prepared. how does it happen? Consequences IP: 218.186.12.241 |
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trisomy8mom Member |
posted 04-26-2012 07:33 AM
Hi, just wanted to respond to the above post.While I am sure you have kind intentions, that list is not really that helpful. It is an example of worst case scenarios that may or may not happen. It is good to be aware that it is extremely unlikely for example, that a child is going to have everything on that list, or even most of those things. There is a risk for cancer with all trisomies including Downs Syndrome, however my understanding from our geneticist is that the risk is fairly minor and that most Trisomy 8 kids will live a normal lifespan. A good resource for information is Unique, an organization which correlates a lot of rare chromosome disorder data.As they point out, the cases that make it into medical literature tend to be worse case scenarios. People with trisomy 8 have actually included a college professor! My youngest son, now 9, has Trisomy 8 mosiac. And in comparison with many he is very mildly effected. Many things on that list would not describe him at all. He actually has above average intelligence ( when young he had some hearing loss and was IQ tested at a school for the deaf) though he does struggle a bit in school. He reads about grade level, has speech apraxia ( delay in expressive speech, but not in understanding )was extremely fluent in sign language as a toddler,and he has agenesis of the corpus callosum.We found the JumpMath program designed in Canada for kids who need math to build progressively step by step works very well for him, and he has made a lot of progress in math this last year. He is good at geometry,and loves making intricate space fighters from legos.He has contracted fingers and has had surgeries (a wonderful doctor we are forever grateful to gave him more finger movement) and he writes slowly, but forms his letters better at this point than some others his age.He is learning to play the piano, and likes to see a chiropractor who helps keep his joints and hands moving well. He is friendly , kind hearted, gentle, a little clumsy , but he loves playing sports, (its baseball season coming up now) enjoys playing math games on the computer,and has a delightfully devious sense of humor. He is also at least at the moment, a little bit innocent in his assumptions of others motives, though I am noticing that is starting to change a bit. In the past when speech was harder for him,and before we changed schools,he had to deal with being bullied, and he often seems to enjoy playing with children several years younger than him. He is cheerful and good natured, and is an easy kid to look after; obedient and sensible ( most of the time). He is a little behind on self care if it involves physical things such as getting dressed; he needs reminders to keep himself on task. He is perfectly capable though at 9 years old of getting himself his pancakes and microwaving them for breakfast.He is very tall for his age( he also is skinny) and when younger had problems with vomiting in the morning, rather similar to a pregnant women having morning sickness. In the end we found the most helpful things for him were giving him probiotics,and bland morning foods. Over this last year he seems to have finally grown out of this and is almost never sick, though we continue the probiotics from time to time just to be safe. Just wanted to give an overview of our son and some of the things that have helped him; nothing here is meant to be medical advice,(check with your doctor first). The one thing I have learned though is that every Trisomy 8 baby or child is unique; often what can be a large issue for one is nothing like as severe for another.One mother of a toddler with trisomy 8 was having major issues with food and vomiting; however speech was progressing beautifully for her child. Our son is a delightful kid, and right now we don't know what his future will look like when he is older. We certainly believe that it is quite possible he may decide to go to college; right now he says he wants to be a Dad; he is very good with babies and young children, attentive and caring, so he would make an excellent father. We have talked about adoption with him, though a geneticist told us that as he would have mosaic sperm, any baby his wife could carry to term would most likely not have the disorder. ( Full trisomy 8 is not compatible with life.) We were told a lot of worse case scenarios when our child was diagnosed soon after birth; some even matched the list you wrote. In actual it would have been kinder and more helpful if the doctors had been more aware of the many good outcomes that are possible for babies with trisomy 8 mosaic. wishing you all the best,and if anyone wants more info, i'd be happy to share what I can. IP: 207.118.117.5 |
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RebeccaB Member |
posted 07-11-2012 11:01 PM
Hi, my son who is 12 years old just got his diagnosis 2 weeks ago and I'm kind of glad we didn't know he had trisomy 8 these past 12 years. He does have the deep creases in his hands and feet (and his feet are big--size 10). He did have fluid on his kidney when he was born but that corrected itself without surgery. He did need OT, PT and Speech therapy when he was little and our geneticist had given him a diagnosis of "apraxia". It all turned out to be very mild. We laugh because he didn't talk until he was close to 2 years old and now we just want to put a sock in his mouth  because he doesn't stop talking. He is a very sweet child-- after reading the other posts it's interesting because he loves little children and animals too! His older siblings adore him and get a kick out of him. He loves to read and does well academically (he is in honors math), he is at a tough academic school and seems to be holding his own. He still can't ride a bike (the balance thing has always been an issue for him), does not like huge roller coasters and is not a very good athlete. He doesn't seem to care, he prefers hip hop, piano, the drums and playing board games. I do notice that he sometimes still flaps his hands when he is excited or when we are at a play/musical and he is concentrating. With puberty around the corner, our pediatrician wanted us to follow up on some of his peculiarities-- his chest plate sticks out ( I forget the medical term for it) so we went to have his heart checked and we found a doctor at Johns Hopkins who works with children who have Marfan Syndrome. This Doctor is the one that recommended we do more testing and we just found out he has trisomy 8. I'm sure we are not out of the woods and he will have other abnormalities occur in the future but for now, he is a happy go lucky child and seems to be doing fine (knock on wood). IP: 108.28.49.64 |
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PatsMom Member |
posted 07-28-2012 04:35 AM
quote: IP: 173.58.171.37 |
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sanneisa Member |
posted 01-05-2013 08:36 PM
Hi I have a 10 year old with trisomy 8 mosaic. We found out about 6 months ago. We knew he was mentally delayed since he was about 2 and a half years old. He is going to a special ed school since he is 4 and he is doing really good. Other then being far sighted he has no problems medically. He is starting to do math in the 10 to 20 field now and reads little sentences. His writing is really good. He is just a little happy fellow. IP: 84.149.209.165 |
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