Unique - The Rare Chromosome Disorder Support Group

Fiona - posted on 12/31/2008 ( 66 moms have responded )

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http://www.rarechromo.org/html/home.asp

At least 1 in 200 live born babies have a rare chromosome disorder, many causing severe physical and learning disabilities. Unique is a charity working to support those children, adults and families, who are affected or support those affected by these disorders... Check it out! They have a facebook group too..

MOST HELPFUL POSTS

Sharona - posted on 09/03/2013

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My son was diagnosed with 3q29 microduplacation. He is currently enrolled at a special needs school. He recieves speech,physical, occupational therapy and is about to undergo more testing for counseling. He has severe texture issues,ADHD,Social a anxiety disorder. Anyone having any info would be of great help

Pamela - posted on 10/01/2012

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My daughter has been diagnosed with 8p23.1 duplication syndrome. It is just a daily struggle.

Ashley - posted on 01/25/2012

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Hello i am new to this site

my 4 month old girl has 17q12 microdeletion i was wondering if any one else has a child with that

Laura - posted on 03/06/2011

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There is an organization that many of you might be interested in. It is called Chromosome Disorder Outreach. It is a group dedicated completely to parents of kids with rare and unusual chromosome deletions. You can google search them. They are a wonderful source of information and there are families in that group with some of the rarest disorders. They are really, really supportive. I hope this helps some of you.

Carol - posted on 09/27/2013

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I have found Unique very helpful. I have also found 4 other families with the same disorder as my 14 year old son, 17p13.3 duplication.

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Samantha - posted on 03/16/2014

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I have an 11yr old with 3q29 duplication syndrome I just take everyday as it come it is dificult but I have learned to deal with it and he is just as he is... just wanted to suport the lady with the child with the same condition enjoy the good times n ull get through I asume thats same for any parent with any child I would not be the mum I am today if I had..nt has my boy. Hope this helps..

Rebecca - posted on 11/30/2013

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For my daughter when she was young, she ended up having a feeding tube, This helped her thrive and grow until she developed her skills.

Ginnie N Larry - posted on 10/11/2013

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My daughter has this too! I would love to talk with other parents in our situation

Susan - posted on 09/12/2013

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New to this, going through some genetic test and found out myself and my son both have a gain on chromosome 1! I have no idea what this means however, my son is now 4. Shows autistic behaviours, didnt walk until he was 19 mths. Didnt speak great until he was 3 and even now its not as good as some. Anyone kno anymore? Thanks x

Maggie - posted on 06/28/2013

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My son is 32 months, two years and 8 months. he has a gain in hhis 19th chromosome. hes not crawling and not walking or talking. he bables alot butcant really understand any of it and says up and has said mamma a few times . he also has a g tube, he cant eat anything by mouth because he aspirates. Hes got pnumonia quit a few times, he has really thick secretions so he coughs and gags alot. he was in a care facility for a year he went there for respite because i got sick a few days after e was therer he had a mucus plug and stoped breathing, he had o be rushed to the er ad once he was alrigh to go he went back to cedarcrest to be monitered all the time. hes had breating problems sence he was born, but only when hes sleeping. doctors say he has a small head and small jaw. microphaly. for a while he wasnt gaining weifght very well but in the last 6 months he mada big weight gain, the doctor wants him to slow down. hes been home for 6 months he hs quit a bit of medical equitment, oxcimiter, 02 cough asist, inhalers, nebulizer, miralax and melitonin because he does like to sleep. He has a pt, ot and speech therapist, therre all working on alot with him plus i work and play with him everyday. He has quit a few doctors, he has a gi doc, respitory, genetics, feeding and nutritiionist, nerology, ent, and his primary pedi. doc. hes a very happy little boy he laughs and smiles and plays witch makes everything alittle easier. im a stay at home mom i have my son 24/7 because im not comftorble enough to let anyone watch him. its really hard to care for a speciall needs child and theres no diagnosis yet cause they have no idea what the chromosonal gain does theres no diagnosis for it yet. they only said he has developmental delay. genetics has ran other tests and theyve all been negative. its very frustrating not having any answers and not knowing what to expect over the years or knowing wheather he will ever be a normal reguluar little boy. but im still hoping for the best and just taking it one day at a time and hopefully one day he will make a lot of progres, Or some answers on whats going on with him!!

Trina - posted on 04/03/2013

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Hi all i no all the stugles with having a child with a rare disabity I hope having some one to talk to helps for i no as a mom it nice to no there are other out there. I like to up date a few things on my son is 9 know he has 15q 11.2 deletion. He also has a growth hormal imblance. He has alot sinceary issue with weather related and he does not do to well with change in a routen. He also strugle daily with behavior choice, and school work and just every day stuff like remembering to go the bathroom am glad i got him a school for kids with disabilities. He also has adhd

Anita - posted on 03/25/2013

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My name is Anita I have a 15 yr old son with 47xyy rare chromosome any information would be helpfully and appreciated drs say there's not enough research and they can only guess at certin medications wich I'm not happy about

Suzanne - posted on 01/02/2013

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Hi,
My name is Suzanne. I am a mother of 2 healthy boys ages 6 & 8. My stepson is also 8 but was born with a very rare genetic condition known as partial trisomy 1 with 10q deletion. He was born with a severe heart condition which required placement of a pacemaker. He has poor trunk control which causes difficulty balancing and walking so he often resorts to crawling. He is nonverbal and has profound learning delays which makes communication with him very difficult. He has a communication device, however, seems to have trouble using it in a functional way.
He is not potty trained and follows his dad from room to room as if he is afraid he isnt coming back.
Feeding is challenging. He munches on solid foods and holds most foods in his mouth for long periods of time and eventually has to have them removed. He eats mostly pediasure and puréed foods such as mashed potatoes and pudding.
Sleeping has recently became more of a problem when he stays with us. Over Christmas he stayed up for 40 straight hours:(. We put him to bed and immediately he gets up. We spend a lot of time putting him back in bed but it doesn't seem to work. He will wander about the house all night, chattering and banging on toys. He wants to go outside at all hours of the night so we keep the doors locked with hinges that he is unable to reach.
He is afraid of loud noises. In response to them, he will either bury his face in his dad or will lay down with his knees under him, his face in the floor, and his hands covering his ears.
He is very small for his age. Currently he is wearing 3-4T clothing. He enjoys electronic devices such as his iPod and cell phones.
If anyone has any suggestions as to how to assist with the issues we are facing, please feel free to share them. He is a sweet kid but very challenging.

Alicia - posted on 12/17/2012

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My daughter is an 8 1/2 year old she was diagnosed with 2 genetic disorders at the age of almost 4 they are a deletion of chromosome 16p12.1 and duplication of 15q11.2 to 15q13.1 when she was first diagnosed they said the duplication was associated with autism now over the years they have found more and more stuff now its associated with sudden death and the deletion is also associated with autism she has a lot od delays and in some areas she is 2 years behind and in others she is either a little behind or on target somewhat. getting her tested for us just gave us a better understanding a and reason for why she has had so many struggles, unforntuatly her biological father will not get tested so all we can go by is my blood she gets the deletion from me and they are thinking she manifested the duplication on her own, its nice to know there are other parents out there who have the same disorders.

Susan - posted on 10/16/2012

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Hi my son has 22q13.3 deletion. We found this out when he was 2 1/2. This effects his speech fine motor skins and other health problems. I was wondering if there was anyone else out there that might know about this. He is 4 now and every day is different. But we love him.

Susan - posted on 10/16/2012

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Hi my son has 22q13.3 deletion. We found this out when he was 2 1/2. This effects his speech fine motor skins and other health problems. I was wondering if there was anyone else out there that might know about this. He is 4 now and every day is different. But we love him.

Tammy - posted on 07/26/2012

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My son has severe learning disabilities. Just went through Genetic Testing and Come to find out he has 16p12.1 deletion as well. they tested my blood and I have the same deletion. Wow, never knew this. I was hoping to concieve another child but now I'm very scared. My son is now now 15 years old, and going into High School at a 1st grade level. He also has Adhd. thus far his Heart seems to be fine. Just Learning Disabled. I also have a 8 year old girl who was diagnosed with Type 1 Diabetes. Life here is very challenging.. Nice to find this group and able to relate to others

Christal - posted on 07/21/2012

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My 13 month old daughter was born at 37 weeks when's she was born the doctors were certain she had Down Syndrome she had blood work done and she actually has Chromosome 13 Q Deletion she was born 5lbs 17in long now at 13 months she's only almost 17lbs and 27in long she is only allowed formula due to losing weight trying baby food she has coloboma and is blind in her left eye her motor skills are also delayed and hearing impaired she's getting hearing aides next month sometime she also is at risk for retniblastoma she has glasses I have been trying to find some way to communicate with other mothers that have something similar to my daughter!

Kimberley - posted on 05/29/2012

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sweet my daughter has just been diagnosed with a very rare disorder that involves a lot of different food that she has to eat and I am just learning about everything now she will be on the Ketogenic diet probebly for life so again anything I can find is great

Alicia - posted on 05/24/2012

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my son alexander has 1q21 mirco duplation and he is three year old now they only know very little about his rare chromosome disorder he was tested when he was a year old

Paula Diana - posted on 05/01/2012

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Nothing is worse than NOT knowing whats wrong with my daughter, when I know something is not quite right, she has a constant cough, lung infections, polysistic kidneys. All this indicates PCD, we need to do a biopsy, but they dont do it her in Greece-Crete . My daughter is on antibiotics every day, hospital and home.
Is the only treatment for PCD?

Mistyaz - posted on 04/07/2012

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My granddaughter has chromosome1, deletion of the long arm. She also had failer to strive. Shes 10 now and she will hold her food in her mouth for hours. She just started wearing 2 toddler clothes. Shes just a little over 2 feet.

Jennifer - posted on 04/03/2012

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Ashley I found 2 groups on facebook for that chromosome deletion. One is an open group and has 2 members and the other is a closed group with 1 member. Just type 17q12 deletion into the search bar and hit enter it will come up. You can join them. I hope you find people to talk to. It is so hard finding people with the same chromosome.

Ashley - posted on 01/25/2012

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my baby girl is 4 month old and just got 17q12 microdeletion does any one else child have this

Ashley - posted on 01/25/2012

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Hello i am new to this site

my 4 month old girl has 17q12 microdeletion i was wondering if any one else has a child with that

Carolyn - posted on 10/09/2011

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Hi i am new here and recently i found out that 2 of my sons have 3q29 Microduplication Syndrome. Does anyone have any children with this who can give me any information about it. My kids are currently on a waiting list to see a genetics person about it. The doctor who gave us the results didn't know what he was talking about and i can't find any info on it.

Jennifer - posted on 05/24/2011

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My 2 1/2 year old son has chromosome 1q21.1 microduplication. I was tested and also have it. His symptoms are a hole in his heart which is closing up on its own thankfully, macrocephally, some facial features and developmental delays. My only symptom is my history of depression.

Alisha - posted on 04/28/2011

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My son and i have a 3q29 microduplication...curious to find someone else who does. The dr's say that this could not be what is causing my sons problems because we both have the duplication and i am healthy....i was not healthy as a child though. my son has seizures and has had them since about 6 months old.

Emma - posted on 04/19/2011

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My daughter has Smith Magenis Syndrome, I know of a few very good support groups world wide.. please contact me via my daughters website www.graceriddell.com x x

Tabitha - posted on 03/14/2011

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hi i have a son 21months who has Pfeiffer Syndrome, not entirely sure what learning and speech problems he is going to have but there is sure to be some. I also wanted to know if anyone knows of any specialty shoe stores in Western Australia as i cant buy normal shoes for him- his feet are very broad. please help its so frustrating as he keep hurting his toes all the time from not being able to wear shoes.

Stephanie - posted on 03/07/2011

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My daughter was born at 32 weeks. She has a translocation of the end of chrom 1 and 13. She also has a delation of part of the long arm of 13. Her condition is called Q13 delation. She is 14 months and weighs almost 17 lbs and is 26" long. She wears 12 m clothing but looks very small for her age. She was born with Retinobastoma (cancerous tumors in the eye). After 8 months of chemo she lost her left eye. She has a prostetic eye. She is developmentally delayed. She received OT, PT and feeding therpy. She has a g-tube, but will sometimes take stage 2 baby food. Rejects the bottle. She breast fed fine. But has always had feeding issues. She is almost able to sit up on her own. I have been a part of Unique for 1 yr. I have not found another family with a similar disorder. We battle every day with feeding and sleep issues. We have seen endocrinology about her growth, she is slow growth and had failure to thrive. Blood tests are not back yet.

Meljade - posted on 03/06/2011

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Hi ladies, I have a facebook group if you wish to join, email me at m.kgiddens@hotmail.com - it has a variety of kiddies and families from around the world who have disorders/special needs. It a great place to share and give and get advice. its private. hope to hear from you, would love to have new families.

Michelle - posted on 03/06/2011

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hi my son is turning 5 this april, after about 2 and half years of going through different tests we were told that they had found two chromosone abnomalities, these were on chromosone 3 both ends of the chromosone are doubled up (duplicated). The middle of the other seems to have, in there words "fallen out" or has been "deleted" they said it was on the 3 q band I have no idea what this means for my son as the doctors nd consultants seem baffled by it and apparently this has never been seen or found b4? both myself and his father have been tested and we are not carriers, i have 5 other perfectly healthy children that r not affected. i have no idea where to start in getting help for him, we have been left with absoloutly no idea what the future holds for him? Anybody out there going through the same thing or have any information that i may find helpful please reply bk. many thanks, shell.xx

VANESSA - posted on 02/13/2011

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My daughther has mosaic trissomy 9. She's 4 months age, can't drink (she's using a tube) and has developmental dalays. Does anyone with a child mosaic trissomy 9? I need so much know and talk with moms of rare chromossome disorders' ... Thank you.

Lucy - posted on 01/25/2011

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my son is going through some DNA blood work, it should be in a few more weeks, they say it takes 6 to 8 weeks. But today some of the blood work came back with the liver count being off. What does this mean? they are looking for the rare chromosome disorders.. he suffers with hypotonia, off balance in walking little speech and alot of drooling..but i wondering why the liver? any answers?

Amber - posted on 01/18/2011

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I have a daughter who was born 6 1/2 years ago with a rare chromosone disorder called Chromosone 6p delection there arent many cases none that lived but she has a mild deletion..she has developed speech so we taught her sign language and put her in a deaf and hard of hearing school..although she can hear she does have a slight hearing loss but they could never tell us why she doesn't talk..she has some developemental delays she in first grade but she at a 3 year old level. I have a 3 year old daughter who doesnt have the chromosone abnormality and wonders whats wrong with sister but I try to explain that shes special and thats how she was born..but sometimes she doesnt understand and says she wants to be special and she doesnt talk!! well hope someone out there can relate-Amber from Vegas

Crystal - posted on 12/28/2010

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Hello, my 4th child and 3rd daughter was born with EA/TEF and has XP22.2 chromosome duplication....anyone else with the same disorder? She recent found to have a growth disorder as well and refered to an Endo. She is 18.5 months and 15.5lbs 16 3/4 inches. I've contacted Unique and no one else is linked to the same disorder.

Jennifer - posted on 12/23/2010

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my son has a deletion on chromosome1 and is very rare...he has multyple dissabilities and severe challenges.

Mistyaz - posted on 12/14/2010

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I understand about the rare chromosome disorders. My granddaughter has Chromosom1. Deletion of the long arm.

Yvonne - posted on 10/12/2010

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Hello everyone, I am new here also. Both my daughters have a rare chromosome disorder. Partial trisome 20P which is they have a small piece of extra 20 ch. sitting on their 14. My husband is a carrier, so is his mom. They are what is called a balance transfer. And his sister also has the disorder. My daughter's are 16 and 10. They are doing very well. They both have mild developmental delays and motor skill delays. They have had some health issues over the years but other wise are healthy girls. I feel so blessed some days and I will admit completely overwhelmed on others. I feel like a super mom some days and an utter failure the next. It definetly is a roller coaster of a ride being a mom of children with special needs.Not just with the learning issues but, the social issues (kids can be so mean) and the health issues. I love them so much that my heart aches for them. I want the best. My biggest hope is that they grow up to be able to take care of themselves and have happy healthy lives. I have enjoyed reading your stories but am so sad at the same time. Because it's sad to know that there are so many children and parents that are struggling so much. But, I serve a might God who helps me everyday. I pray you all the best of what you need and want. Thank you.

Amanda - posted on 09/24/2010

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My family joined Unique a month ago. Their information is wonderful! I wish I had discovered them just a little bit sooner b/c the had a family day in May for families with my son's inv del dup 8p. I would have flown over for that.

Trina - posted on 09/23/2010

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Hi., I am also new here for year i had new somthing was not quite right with how my 6 year old was developing and keep asking the doctors they keep telling me not to compair my youngest son with my older son. But as mother instinct i just new i found out after mutple vists to hosptial and pysogest and tharpy what was going on they did a dna test on him. I final got the results and he has Missing Chromosme sendrom, his dna deltion is in secment of 15 strand it very rare and only 6 recorded that have this deletion. It coses delayed motor speech development, asd, minor dysmorphology, behavior problems and seizures. My son has all this expet no sin of the seizures yet i am thank every day that he does not develop this part of the syndrom. I have been seaking for help not only for him but for my self if any other parent read this and think um somthing wrong with my child go with you guts. It is a every day stugle but he is so worth every minute i would never chage who he is and i know I have a very long road ahead thank you all i hope this help some body else to

Mary - posted on 08/29/2010

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My 15 year old daughter was diagnosed a few weeks ago with a rare disorder called CFC cardio-facio-cutaneous syndrome. But for the past 15 years we have seen hundreds of doctors, she's gone through over 50 hospitalizations and numerous surgeries. She had seen three genetics specialists and metabolic specialists. Our nwuropdevelopmental pediatrician suggets we try a genetics specialist that she highly reccomended. We went and, after going over her extensive medical records he was still baffled. then he looked at pictures i'd brought of her from birth through age five and he suddenly knew what it was. he showed us a picture in a book and it could have been my daughters photo, and the descriptions reasd like her medical file. I asked him why noone else had discovered this before and his response was "you could see 100 genetics specialists and with rare disorders, you'd have to see the one who had seen the disorder before. i had one case several years ago"
After that we found out their is a great family support network for CFC kids and a communications board. It has made so much difference for us to have that support. I wish you luck with your children that have rare disorders because I know how long the road is, and we know we have lots of things yet to handle in the future.

Danyele - posted on 08/09/2010

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can anyone suggest any help i have 4 kids and 3 have global developmental delay my eldest has global delay of 2 yrs and eye squints she has also emotional and behavioural problems with query of dyslexia and dyspraxia its not been confirmed yet my sons 7 has delay of 2 yrs adhd and aspberger tendencies plus hytonia in hips legs he has hardly any muscle mass and undescended testicle and eye probs my next girls 4 she has delay of 12 to 18 months too v emotional and sensetive many fears and eye problems too basic genetic tests have come bk clear looking for syndrome but cant find a thing any ideas everyone

Angela - posted on 08/07/2010

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Hi there, I am new here too. I came accross UNIQUE about a week ago when early intervention found some information for me. I have identical twin girls 3 years old both of them have Phelan Mcdermid Syndrome (22q 13.3 deletion) We found out when they were 1 1/2. My husband & I both got tested and we arent carriers of any genetic disorder. I was reading in the leaflet that there are no parents that arent carriers with 2 children affected (does this mean we are the only people in the world?) I would love to hear for anyone out there whose child has the same condition.

Laura - posted on 08/01/2010

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Hi my name is Laura and my daughter is Katelyn. Katelyn was born with 18P Syndrome which is a deletion of the short arm of the 18th chromosome. She was also born prematurely at 32 weeks gestation. She is 16 months now. So far she seems healthy however she is developmentally delayed. She gets physical and speech therapy. She is finally crawling but not walking yet and she only says mama and da. She recently had eye surgery to correct a sever case of ptosis in both eyes. ptosis is drooping eyelids. The eyelid muscle is underdeveloped and is surgically shortened. Her surgery was a month ago and she had an infection afterward. She was on antibiotics for 2 weeks but is fine now. I am a little concerned that her appetite has suddenly dropped off. She is still eating stage 2 baby food but is barely eating a quarter of what she did before. Everyone keeps telling me kids appetites go through phases and I shouldn't worry, but it seems awfully sudden. She still nurses before naps and bedtime but today she only ate 6 oz of fruit this morning and a few bites of cereal. Anyone out there go through anything like this. If so,. I would love to hear from you.

Mary - posted on 07/31/2010

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it's never too late. we have a daughter who is 15 and has had a very complex medical history with tons of surgeries etc. we have seen more specialists than i can count. but two weeks ago we saw a new genaticist and finally got a diagnosis! cardio-facio-cutaneous syndrome. found a great support group on line. just keep doing what your doing. you'll get there!

Mistyaz - posted on 06/14/2010

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My 8 yr. old granddaugher has Chromosome1 Deletion of the long arm. She is 2 feet tall and her clothes are 24 mos

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Hi Gemma, a lot of genetic disorders are un-charted and there is no test... just a lot of trial and error. Look in to 3c syndrome... My daughter has it. she also has kidney/ bladder issues. We have a facebook group called : 3c syndrome 1 in 500million. (cardiac,cerebral (brain), and craniolfacial dysfunction).

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