anyone have a son who has Chromosome 2P duplication

Carena - posted on 04/23/2013

hi just found out my son Daniel (9) has a 2p duplication at 2p11.2 to 2p12 my hubby and I have just had blood tests to check our chromosome and now face what seems like an eternal wait for results to see if this is clinically relevant for our son.
like everyone else it seems we were told its very rare no info blah blah blah like that helps we need answers and I could do with some support.
my son is lovely when NOT at school trying to get extra help for him don't suppose rare diagnosis will go in our favour. would love to chat to anyone with similar diagnosis

Erika - posted on 04/18/2013

Feel free to contact me. We have learned that my son has Alports Like Syndrome, Genetic Disorder, 2q36.3 Chromosomal duplication of 4 times.

Karan - posted on 04/03/2013

Hi all. I've just had the phone call today that my dgtr has 2q duplication and having a mad google. So glad I've stumbled across this and look forward to talking with you when I know the finer details. The little amount of info I have read about 2q is everything we have gone through.

Feel better knowing I'm not alone xo

Salene - posted on 01/28/2013

I have a son almost 13 who was diagnosed with a Duplication of Chromosome 2p when he was 6 months old. Like the rest of you I was told there wasn't another known case. I'd be happy to talk to anyone who has a child with the same Diagnosis. You can PM me on FB @
Salene Carriero My Ryan has had many struggles but, he is the most loveable, kind hearted boy in the world and we are blessed to have him :)

Sheryl - posted on 11/14/2012

Thank you Jackie- it is going to be great having some one to talk to that understands. William is 2 1/2 and it has been a struggle to get the docs to listen to me about the incredible sensitivities he has. I was very surprised with the results of this test! He has wonderful motor skills, also loves to run and dance and I am sure he will be singing soon. He has come so far that I was floored with the autism diagnosis too but that set him up for the therapies. I don't think they are doing much for him though- I know we get further with him. We are working with sign language now because he can do every move the Wiggles ( his favorite) does so there shouldn't be any reason why he can't communicate with signs. I am going to check out those sites. It will be good if I am prepared and have my questions ready when I talk to the specialist. Thanks again

Jackie - posted on 11/14/2012

Hi Sheryl,

We were told the same thing. "...so rare, little information, etc." and it seems that the little information that is out there, is mostly negative, as far as prognosis. I was told that my son Kai, would probably never walk and/or talk. He still struggles everyday to work through his delays, but he runs everywhere he goes, loves to sing, and will talk your head off! Once you get his results back... 1) You'll know more about what your dealing with. 2) You'll probably have more confusion than ever before. 3) Have a really good cry/ scream into a nice fluffy pillow, because this is going to be a long and bumpy road. 4) Shake it off, because you have work to do! A few websites that I found helpful were (www.ncbi.com) (www.bjmg.edu.mk) (www.rarechromo.org) please take these websites w/ grain of salt. It can be so daunting when you first start this journey...heck, it's daunting to live and walk this journey day to day. I don't know why this is my journey, but what I do know, is that a positive outlook, quite a few therapists (OT, physical, speech,etc) and a good sense of humor will help you get through (most) days. "FOCUS ON THE POSITIVE" even when you have to search for it!

Jackie - posted on 11/14/2012

Hi Kelley,

I hope all is well w/ you, Josh, and your family. Sandy was pretty nasty...I hope your brother is doing well. Kai is in his "No, I don't want to" phase and he gives me a hard time about (everything) no matter how small, but for some reason... it's only w/ me. My older kids would throw tantrums from time to time, but it was never constant. Everything I ask Kai to do, he says "NO!" At first it was kinda cute and I was glad to see him assert his independence, but now it's just plain frustrating, especially since he has singled me out and I have to hear from others..."he never acts that way w/ me" Any advice...HELP:)

Sheryl - posted on 11/13/2012

We were just told our little guy has a chromosome 2 duplication. They also told us it is so rare there is no information about it! I have been scouring the Internet trying to find anything and am overjoyed about finding this group! We haven't actually gotten the official diagnosis yet because they are still waiting for the test results for Fragile X. Our guy is extremely sensitive to foods and all most every chemical in the world! He has only 3 foods and has Neocate Formula to supply everything he needs. He has been diagnosed with autism but as long as I can keep him from reacting to his sensitivities he seems to be coming out of a major fog with most of the autistic traits subsiding. He is non verbal but is trying to make many different sounds now. Super sweet and loving with a fantastic sence of humor and a laugh that just brightens our day! It would be great to talk with others!

Is there other groups with chromosome 2 duplication moms? Thanks, Sheryl

Jackie - posted on 10/15/2012

It sounds quirky, but I wish it were that simple. It would be so much easier to explain to strangers:) But no, early on he exhibited so many autistic traits. Socially, verbal and non verbal communication, I was certain that it was autism. He did not make eye contact, he hardly ever smiled, he preferred to self soothed instead of being held or cuddled,etc.Now that he's older 3 out of 4 specialists have said that he does not fall into the autistic spectrum..."tendencies yes, but not autism...he's too sociable" There is so much support/information out there for children w/ autism. People are just perplexed when I try to explain that "Kai has an 11 gene duplication on the short arm of his second chromosome" So they've thrown around autism, Asperger's, and any other syndrome and disorder you could possibly think of. He does not exhibit enough traits of any of those to be diagnosed as one or the other. Partial trisomy 2 is so broad, but it's the only diagnosis they've been able to give. I used to research online day and night, website after website, just hoping to find more information on what to expect for his life as he got older. That grew to be daunting and overwhelming at times, so it's nice to have other mom's to share things with. Have you heard from any other mom's with older (2p) children

Kelley - posted on 10/15/2012

Hey Again,



I hope Josh will come out of his shell. I'm hoping he will.



Does your son have the diagnosis of Autism. The reason I am asking is because all the other children's parents I have talked to with children that have duplications in Chromosome 2p have that diagnosis. I had Joshua tested for it when he was 3 because he had so many red flags. His behavioral doctor that tested him for autism, said he did not have autism. She gave him the diagnosis of Sensory Process Disorder and that he was extremely bashful. As he has gotten older, he has outgrown a lot of the red flags, but he has such poor social skills with people. He will make eye contact with people he knows, but he will not answer or look at someone he is unfamiliar with.



I am so glad to hear you live in NC. We live in AL. And I have a brother that lives in NC. He lives in Wilmington.



I've got a dentist appointment to go too while Josh is in school. Talk to ya later.



Kelley

Jackie - posted on 10/15/2012

We live in NC. Kai still has an accident from time to time, but potty trained for the most part. He is very curious about public restrooms (yuck:) He will tell me that he has to potty even when he doesn't have to. Before preschool he was a little shy and suffered from separation anxiety, but he has busted out of his shell. As a matter of fact, he has no sense of stranger danger, which is really cute when he says hi to all 10 strangers that walk by, but a little scary because I assume that he would probably leave/walk off w/ anyone. We opted to keep him in Pre-K for an extra year, as he missed the age deadline by about a month. He's in a small class of only 5 students...all boys (just a coincidence) all w/ different diagnosis, autism...etc. His teacher has been great! She is very big on independence. He has truly taken to the concept, because he ask me to "can you go away" when he uses the potty or even when he feeds himself and spills spaghetti sauce all over the floor "No, I want to do it" Hopefully in time preschool/kindergarten will help Joshua come out of his shell a little. It's soooo great to have someone to talk to about these things, thanks for responding:)

Kelley - posted on 10/13/2012

Hi Jackie,



Glad to hear from you. Do you live in the United States?? Just wondering. Most of the people who have responded to my post do not. It would be really nice to be able to meet someone else in person who has a child with a closely related duplication in person one day.



I do have some good news. I got the test results back from my son's IQ test. Dr. Spence told me when we started the IQ test that just because children are globally delayed with speech and motor skills does not make them automatically mentally handicapped like the genetic doctor told me. Because of Joshua's speech delays, she could not give him the normal IQ test. She gave him one for nonverbal children. His reasoning abilities and his receptive language understanding is in the Low Normal Range. Yes he has a lot of sensory issues, motor skill issues and expressive language delays but he can process receptive language information normally like any other child can his age. I was so excited to get that news.



Is your child completely potty trained. Josh is finally for the most part. He will have an accident here and there. I have him enrolled in a private school that is trying to get him ready to start kindergarden next year. As long as he sees a potty, he will use it. The main problem I have is he when he is at the school and at the playground, he always ends up having an accident. I have tried explaining to him just because he can't see it, all he needs to do is tell the teacher go potty and she'll take him. His teacher will ask him if he needs to go and he won't respond to her but he'll always end up pooping on himself and he never tries to get her to change his clothes or anything.



He is still very very shy and bashful. It takes him a long time to warm up to anyone who is not someone he sees alot. My mom fell and broke her hip several months ago and had to have a complete hip replacement so for the past couple of months he has not been around her alot. When I take him to go visit her, at first he will hide behind me and even hide his head under my shirt which hurts her feelings because he seems to be afraid of her. Before she hurt herself, he saw her a lot and loved to be around her all the time.



He is a very sweet and loving little boy. I also have a daughter who I always thought she was a big momma's baby but he is worse than she ever thought about being. He won't let me out of his sight for very long. Most of the time, I can't even go to the bathroom or take a shower without him following me. He'll sit on the toliet and wait for me to get out of the shower. If he's watching tv or playing a game and I tell him I'll be right back I'm just going to the kitchen for a minute or going to get the clothes out of the washer and put them in the dryer he won't stay by himself for but a minute or so and he's hunting me. It's like he has a panic attack so to speak if he can't find me. When I take him to preschool, he'll either have to be pulled off me or he'll just hang his head down and poke out his bottom lip and be so pitiful when I have to leave him. Even before when he got to visit my parents alot before my mom broke her hip, he won't let anyone elso do anything for him, only momma. Sometimes on rare occasions, he might let his sister help him with something but for the main part, he will only let me do things for him. Which is why I thought making him go to preschool would help him some.



He does not do well in unfamiliar places. He will clutch onto me for dear life. And I'm very worried about him starting kindergarden next year. The school is going to try to mainstream him with regular kids and give him a special education teacher that sits with him all day to help him. He will need help with a lot of things and he's going to have to learn to let her help him. Sorry for writing a book but I get to thinking about all his issues and I start rambling. But I am very glad to hear from you. Hope to hear back from you. It's late and I probably should go to bed because Josh is a early riser.



Thanks again for responding to my post.



Kelley

Jackie - posted on 10/12/2012

Hi Kelley,

I was so happy to find this site:) I have been searching for answers for about two years now. Seems the moms on this site have more questions than answers, but the simple fact that your son and the other children mentioned have such similar symptoms is (somewhat) comforting to me. My son just turned 5. He has a partial duplication located at 2p23.2. He runs the gamut on delays (global developmental delay) He has missed most of his milestones, but so far he continues tackle all of the "He'll never....(s)" With a lot of patience, physical therapy, speech therapy, occupational therapy, etc. he is coming along quite remarkably, for a child who one doctor told me... would never talk and perhaps never walk. My son was diagnosed at the age of 3. This may be helpful, but it turns out his father has the same duplication and is an intelligent, well adjusted adult. Unfortunately, his mother was (very) young and probably would not have recognized any delays. It can be very daunting when you are searching for answers independently on the plethora of chromosomal/genetic sites and pages (ncbi, bjmg, etc) I wish I had all the answers for you... I wish you had all the answers for me:) but for now I will settle for knowing that there are other mothers out there who are dealing w/ similar chromosomal duplications, that the geneticists say is so rare.I don't get the opportunity to discuss this topic w/ many people, so I could go on and on about my son. I am really pleased to have read yours and the other posts...Thanks:) Please let me know if you have any questions...or suggestions.

Kelley - posted on 08/30/2012

I hope your genetic doctor didn't scare you too much. When I got the news from my son's genetic doctor he gave us the worst case senerio because they believe chromosome 2 makes up the brain and the central nervous system but they don't know a lot about this chromosome. (atleast the doctors don't here in the United States). I cried all the way home after getting the news. He started off by saying you know a child that has down syndrome has one too many chromosomes in chromosome 21. Your son has one too many chromosomes in chromosome 2. Then he stated there were no other documented cases in the United States of a child having the same chromosome disorder as my son. That Josh has a rare chromosome disorder. But because of the chromosome that was messed up, he didn't think he would ever be able to talk and he wasn't sure as to what degree he would be mentally handicapped. He couldn't answer any questions I had. He just gave me the report and told me to go file SSI for Josh. I was devasted when I walked out of there with Josh. But doctor's don't always know all the answers. Josh is doing so much better than I ever expected. I'll know the answer to the question, is he mentally handicapped come October 8. He will be tested at the end of September and I get the test results back then.

Rebekka - posted on 08/26/2012

Oh thanks so much!! After tomorrow I'm sure their will be a lot on my mind and maybe you can clear some stuff up for me. Talk to you soon, thanks again!!

Kelley - posted on 08/26/2012

Hi Rebekka,



I would be glad to chat with you and answer any questions that I have learned over the past year. Josh has a small microduplication too. His band that is duplicated is 2P22.3. His is in the shortarm of chromosome 2.

Rebekka - posted on 08/25/2012

Hello Kelley,

my son is almost 16 months and they just informed us that he has a duplication of chromosome 2(just a small part whatever that means). We have our first meeting with the Genetic doctor on Monday, I have so many questions!! We think this is a new event as they call it and it explains a lot of the past 16 months. Global developmental delay, feeding problems, no talking, barely pointing and waving, doesn't like to be touched at all, very slim, big space between his first and second toe, many little things I guess. Would love to chat with you. Thank you.

Rebekka - posted on 08/25/2012

Hello Kelley,

my son is almost 16 months and they just informed us that he has a duplication of chromosome 2(just a small part whatever that means). We have our first meeting with the Genetic doctor on Monday, I have so many questions!! We think this is a new event as they call it and it explains a lot of the past 16 months. Global developmental delay, feeding problems, no talking, barely pointing and waving, doesn't like to be touched at all, very slim, big space between his first and second toe, many little things I guess. Would love to chat with you. Thank you.

Kim - posted on 08/20/2012

Hi There

When you say chromosome duplication are you meaning an extra chromosome known as trisomy.

My son has an extra 18th chromosome meaning trsiomy 18 or Edward syndrome and has far outlived all doctors expecations - he has severe scoliosis, a cleft pallet which we cannot fix as he will not survive surgery and also neurological difficulties resulting in him being fed through a gastrostomy tube as he cannot feed by himself. He also has a VSD and ASD as well as hip displaysia ( from birth) in both hips and club foot.

If you dont mind me asking what is chromosome 2P duplication?

Melissa - posted on 08/18/2012

My son has a chromosome 3p26 deletion and i was told no one else is documented with this deletion as well.

Alisha Kate - posted on 08/17/2012

Felizbela,

PLEASE also contact me!!! i need to collect info from you ladies. it's very important! thanks. xo

Alisha Kate - posted on 08/17/2012

OMG!!!! kelley !!!!!!!!!!!! my son Ethan is turning four in two weeks. he has a duplication of chromsome 2. his duplication is on the short arm at 21 i think it is. we were told he is the only one too!!!!!!!!!!!!
PLEASE can i add you on facebook!!!! i have a group page where i am finding other mums iwth kids with this disorder and collecting info so there is more out there!!!! would love to add you on facebook and then you can like my page and if you are interested even right up your story and send it to me via email with pics so i can add it to my page. it would help everyone out GREATLY in raising awaareness!!!
my name is Alisha Kate Goodwin, please find me on facebook. xo

Felizbela - posted on 06/17/2012

Hi Kelley,
Thanks to answere me.
Your son and my son have some similar behavior, jan can talk but not enought for his age. He goes to physical therapy and speech therapy. but because of his delayed development we are having problems to find a suitable school for him. we want him to go to a special school with small groups. your child beyond the therapy's that he is already going, he is going to school? the medical genetics here can not tell us more about it. They say that our son's case is unique and not yet have any information about this duplication in the database. We are searching for some doctor or some genetic information that can help us understand more about this case and know what to expect in the future. our son is small in stature for his age, because of his delayed development, he is very intelligent but when interested in something like cars. he is able to say all the brands of cars ...happy boy, the most stroger behavior is that it requires a lot of attention.
maybe we can exchange experiences because I see that your child has almost the same age as our son.
thanks again and keep contact

Kelley - posted on 06/16/2012

Hi Felizbela,

Glad to hear from you. I'll be glad to answer any quesitons that you have. We found out about our son's duplication when he turned 3 years old. He is almost 4 1/2 now. We were also told the same thing as you. There were not any other documented cases out there with the same duplication. My son also has some autistic traits. He was tested for autism at age 3 but the behavioral specialist said he had some of the red flags of autism but not enough to classify him as being autistic. He is in speech, occupational and physical therapy. He was born severly tongue tied. He could not nurse until the doctor's clipped his tonuge. He has a lot of texture issues with food. He also doesn't sense when he has hurt himself most of the time. He has to hurt himself really bad in order to sense he is hurt. (Actually see blood and I think that is what scares him) He has no sense of danger. He touched a hot rack in the over when I was taking a pizza out one time as I was yelling at him no don't touch that. He didn't cry at all. He also doesn't understand stop, he would run out in front of a car. He doesn't understand it would hurt him. His speech is coming along considering he couldn't say bye bye or wave bye bye until he was almost 4. He couldn't say his own name until he turned 4. His speech was just ma ma or da da. He couldn't hold a cup until he was 2. He couldn't use both hands at the same time until he was 3. He just recently learned how to say mommy. His speech therapist was teaching him sign language to help him communicate. It seems like the words he learned how to sign are the words he is beginning to learn how to say. He still babbles alot and part of his poor language skills are because he leaves off parts of the word he is trying to say so you don't understand what he is trying to say. For example our dog's name is patches, he calls him pa pa. But I am glad to say he has come a long way from a year ago. I fully believe he will learn how to talk in time. My email address is Sunspsree1968@yahoo.com. Hopefully we can help each other out. Your son's duplication is very close to my son's. His is a microduplication at band 2P22.3.

Thanks for responding to my post and I look forward to chatting with you.

Kelley

Kelley

Felizbela - posted on 06/16/2012

Hello,

My name is felizbela, im living in holland, sorry my english is not so good. I have a son from 4 yrs and 7 months who is diagnosted a duplication from chromossome 2p23.3-22.3. with conclusion from duplication of chromossome 2p23.bout month ago. Jan is born with 2 neonatal theets and since he born he had problems with growing and eating. The doctrs here couldnt say much about it. We made several checking all this years.2 months ago before we know that he have this duplication he is tested and they say that he have a little autism desorder. Its worried us because the genetic docter sayds that ther is no a child with the same duplications in the data base. We dont know much about it and wath to expect for is future. He start to walk with 2 yrs and talk with 3. But until now he dosnt talk very good. Jan talk 2 lenguage bcause my husband speak duits and i speak portugees and duits. I hope to hear from your.

Greathings felizbela

Zulied - posted on 06/08/2012

cant find you in facebook, anyway my email is zuly_anavis@hotmail.com

Zulied - posted on 06/08/2012

Kelley, thanks for answering so fast. My son has so much progress in these last weeks, begins to speak more fluently . I hope with all the therapies which receives going better. recently I am notice he had hearing problems, because it does not listen for the right ear.
I hope keep in contact and blessings to his family.

Zuly

Kelley - posted on 06/04/2012

I'm so glad to hear from you. There are not alot of children with 2P duplications. There are more with deletions from all the research I've done over the last year, after I found out about my son's duplication. My son could walk at 2 but not real good. He constantly fell and would bump into stuff. He thought he could walk through doors, walls...........he had a hard time understanding he couldn't walk thru things. He was and still is clumbsy. With Occupational and physical therapy he is much better now. He still trips and falls but the therapist think because of the chromosome duplication he has no depth perception in his vision. He has alot of texture issues with food and doesn't feel pain. He has to hurt himself really bad before he notices he has hurt himself. He was born severely tongue tied. He could not nurse until they clipped it. He said mommy for the first time about two weeks after he turned 4. He could only say mama and dada until then. He still has very limited language skills and goes to speech therapy. He is doing much better learning to talk. Alot of his problem is he leaves off parts of the word he is trying to say. But he also still babbles alot but you can tell he thinks he is talking. I am on facebook under Kelley Wright. I live in Pelham Alabama in the USA. I'd be glad to help you with any questions you have. Look forward to talking to you.

Kelley

Zulied - posted on 06/02/2012

hello I`m Zuly from puerto rico. forgive mi inglish because mi native language is spanish. Also I have a baby boy with chromosome 2 disorder, he is 2 years and dont walk, but he triying to talk he said mama and nene. when he born was only almost 4 pounds, and had cleft palate. thanks God he is a verry happy boy and always have a smile. I pray to God last night and then i went to the internet and made a search, found this page and read all the post. the doctors also tell me the same to al of you. but this kids was beatifull and intelligents. thanks for the support.

Therecluseheiress - posted on 05/31/2012

Hi Kelley. I have a son who is 8.5 yrs. old. He has 2p duplication syndrome. 2p 21-23 he was born in 2003 and I was told he was the 6th child ever reported with this. If you would like to talk more you can find me on facebook. My name is Andrea Nguyen ( Osborne) I will help you with whatever info I can or just to talk. It's been a long and tough road, so I do understand the need for answers. Take care, and I hope to hear from you soon.

Kelley - posted on 05/06/2012

I live in Pelham, AL in the USA.

Vivian - posted on 05/05/2012

Hello Kelley I looked for you on facebook and there was a page of Kelley Wright's, where do you live? I bet your are pooped! I was homeroom mom for my oldest daughter during 4th and 5th grade and they are a handful. Fun but a handful :o)
Look forward to hearing back, have a great weekend.
Vivian

Kelley - posted on 05/05/2012

Thanks for responding. I've been on a long field trip with my daughters school. They took all of the 5th graders to virginia and to washington dc for 7 days. I was in charge of 4 girls who are 11 years old. I am completely worn out so that is why I haven't been online for a week. My name on facebook is Kelley Wright. I would love to chat with you. I'm just popping online real quick to check messages today. We got back home late last night but I am still so worn out from all of the walking, not young anymore.........LOL. I look forward to chatting with you.

Thanks,

Kelley

Vivian - posted on 05/04/2012

Hello I was just searching around again like I do every so often hoping to find others with children with Chromosome Duplication on 2p and ran across these post. My daughter is 13 due to turn 14 in June. She has a Duplication 2 p13-21. It is really rare to find other with close duplication. I am part of Unique and found a few close and one young adult male. It really seems hard to find girls with this duplication. I would love to chat with any of you about our children. I know when I first received the diagnosis years ago I was dead set on finding a match!!! I finally came to this conclusion ~ Even if I find and exact match that does not mean this is Anna will be. Kind of like Down Syndrome or any other syndrome each child is unique. I do love to see if there are similarities though. My daughter has a diagnosis of Autism and they think she has speech apraxia. It is so hard to figure out if some things are the chromosome disorder or due to these other issues!! Hope to hear from you guys soon. I am on Facebook Vivian Chambers Shull

Kelley - posted on 02/24/2012

Hi Jen,



I would love any info you have found. That would be great. I'd love to know all kinds of info about your son and we can compare to see what they have in common. Their duplications are close.



I've done months of researching online and there isn't a lot of stuff about chromosome 2 duplications. Unique has some good info. I've actually found two other children with the same duplication as my son but both of them have severe autism. The third child only lived a week. In the beginning, I thought Joshua had autism but for some reason he stopped most of his autistic red flags (which I thank God for everyday). His behavioral specialist when she tested him for autism, said he does not have enough autistic characteristics to be labeled with that diagnosis. He has the label of sensory processing disorder. She said he is extremely shy and believes his chromosome duplication is the cause for most of his issues. She said that they think Chromosome 2 has something to do with the genetic makeup of the brain and central nervous system and having too much genetic material causes confusion with all of those things communicating properly together.



My son just turned 4 this week and he finally started trying to talk about 3 weeks or so ago. He is proving his genetic doctor wrong all the time. He also for the first time used the potty last Friday. He seems to have the tee tee down pat now. So far he has not had a tee tee accident. I can't wait for him to learn how to poo poo in the pot. His genetic doctor also said he didn't know if Josh would ever be potty trained because his brain doesn't process sensory signals correctly. Josh would not cry when he hurt himself. He would have to hurt himself very badly in order to sense the feeling of pain. The weird thing is for the past couple of days when he has stubbed his toe or hit his head, or fell and scrapped himself, he is noticing it now. Use to he'd just keep going like he never hurt himself. He might look at a cut or scrap and see blood and wipe it off but he'd never cry or act like he felt it and here lately he seems to notice because he will cry.



I look forward to chatting with you. Thanks so much for responding to my post.



Kelley

Kelley - posted on 02/24/2012

Hi Crystal,



Sorry it has taken me so long to respond. Things have been so crazy around my house since Xmas. My mom fell and broke her hip and had to have a complete hip replacement. When she healed from the hip replacement, she had to have a complete knee replacement. Her bad knee is what caused her to fall and break her hip. My sister and I have been taking turns staying with her. She can't stay with either of us because we have too many stairs in our houses. Trying to keep up two houses, shopping, running errands.....etc is very tiring.



I'm with you, it is very frustrating not really knowing how your child's chromosome disorder is actually going to affect their life. My son has meet a lot of his milestones late as well. He just turned 4 two days ago and it is like a little light has gone off in his head. He is starting to understand things much better and trying to use language. He didn't really say much, until maybe 3 weeks or so ago. He mostly had different facial expressions, pointing and different grunts for what he wanted or to tell you something and lots of babbling. He'd have lots of meltdowns because I couldn't figure out what he was trying to say or get across to me. He mostly uses one word and occasionally two words together. now He has a hard time saying the complete word for a lot of things for example our dog's name is patches and he calls him pa pa and choc choc for chocolate ice cream and his favorite cartoon is go diego go, he says go go but I'll take any words. He can say some things correctly. I'm just excited for any words.



Also, last Friday night, he pee peed in the potty for the first time. I was so excited. From my research online I found out most kids with chromosome two issues did not potty train until 6 and some weren't completely potty trained until 12 years of age. He seems to have the pee pee down pat now if I can get him to use the potty for the other. I'm hoping that will come soon. Like I said earlier, it is like a little light has gone off in his head and he is doing so much better. And he is definately doing so much more than his genetic doctor told us he would probably be able to do. I look forward to chatting with you. I've got to go start supper. Talk to ya later.

Jen - posted on 02/22/2012

My son was born with Partial Duplication of 2P(13~21). I was also told his is very rare with no syndrome associated. He is 7 years old now and though it may take him longer to reach typical milestones, he contines to reach them and he learns more and more everyday. When we first realized something was not right we were given all kinds of 'probably won'ts including not living more than a year! (keep in mind that 1 probably won't was from a jack a$$ of a doctor. I have not been on the Internet searching for a couple of years. I think at the time I quit searching, I had found all the information I could have at that time. I did find a case study in a french medical journal of a 3 year old little boy whose results were very close to my sons. I would be happy to give you any information about my son and could email you the case study I found (don't worry, it's not in French!), even though our children's results are not an exact match. Feel free to email me at anytime for any info you think may be helpful, I know I would have loved finding a parent with any info on 2 anything! Even if I don't hear from you, you and your son will be in my thoughts and I will be hoping he proves the doctors wrong!

Andrée Claire - posted on 02/02/2012

You may want to join Unique, a support group for rare chromosome disorders (rarechromo.org). They can put you in touch with other families on their database with the same duplication/deletion.

Crystal - posted on 01/31/2012

My daughter is 2.5 years old. 4 months ago she was diagnosed with a duplication of chromosome 2q35 of 772kb. It says it is estimated to invole and it effects 10 genes and the genistist says that she does not have any other patients with this disorder. Says it is rare and does not know much about it. She to has developmental delay and other sppech problems. She is almost 3 and does not talk she startedto walk a month ago. She also has hypotnia and mild craniofacial dysmorphism. So i dont know much about it either.

Maimz - posted on 10/02/2011

My niece was diagnosed with chromosome 2 duplication, and also has microcephaly. She just turned 2, but shes at the level of a year old child. She started walking at 19months after various sessions with an occupational therapist. She used to say 3 words, but that has regressed. the doctors say that children may put all their concentration into walking therefore they lose their vocabulary.
She also has a squint, which is causing her to loose her left eyesight, a surgery is required to help her with it. She also has severe asthma, and a weak immune system. Doctors have told us to take her for annual ultrasounds. children with this chromosomal disorder have had cancer. She is a very active child, and feeds her self. In the beginning she had refused food and so she was put on pediasure.

Hira - posted on 09/23/2011

Hi Kelley

My son doesn't have duplication he has 2p deletion. his actual deletion is 2p 15 16.1
I know we cannot compare but its nice to talk about different situations
My son just turned 2.he is not walking yet. but I hope he will soon.when your son started walking. He says babab, mamm etc alot. but no clear words yet. he cannot feed himself . there is a website chromosomal disorder through them I contacted few other peple with same problem. only 2,3 kids can talk ( upto 30 words) and they dont have But they are active , swimming etc Most of them are potty trained around age of 5, 6. It is a big spectrum and we cannot compare with any one.

My son also has Microcephlay. other than he doesn't have any medical condition. I am hopeful for my son future.