What kind of Chromosome Disorders do your kids have?

Kim - posted on 01/28/2009 ( 67 moms have responded )

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Since there are only 4 of us right now, it might be a nice time to find out a little about everyone and their kids.
I have two boys, Logan, who is 3 months old, and Ian, who is 2 1/2 years old and has an unbalanced translocation of Chromosome 5 and 8. We have been told that it is a very rare disorder and that there are less than 100 cases in the world. I have luckily found a lady in California whose son has a similar disorder, although not the exact same, but we have been comparing notes and finding some similarities.
Ian has been delayed in meeting his milestones... he didn't crawl until 11 months, walk until 22 months, and is still not really talking. But he is a super happy guy, and seems to meet his milestones, just later than most.

What about you?

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Angela - posted on 04/09/2013

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Does anyone have any information on the chromosome 10? My daughter is pregnant and was just told there may be a problem. What are the chances of this? Is it common? What kind of problems is she looking at for her baby?

Joanne - posted on 09/15/2012

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i have a little boy called tylor. he turned 3 in may. tylor has chromosome 16p 11.2 duplication, joint hyper mobility syndrome, autism, global development delay. he also suffers from lots of sensory issue to touch and sound. hes got the development age of a 12 month old. even with everything going on his body hes still such a loving happy little boy. he is always laughing. he is still rying to figure out how to walk ut doctors are not sure if this will be posible anytime soon the same as potty training. i havenot yet found anyone else who has the same chromosome problem as tylor but i am hoping to soon. tylor didnt st up un attended till 13 months, didnt crawl till 21 months.he s saying about 3 single words at the present time and tring to form a sentance but can not yet manage itand gets really angry with himself when he cant do something.

Heather - posted on 11/05/2013

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Michelle,
Does your daughter have a deletion or duplication at that location? I'm curious because we were just informed that my almost 2 year old daughter has an extremely rare(4 people in the world) disorder. She has the deletion on chromosome 7 in the Williams Syndrome range(not as uncommon) but she also has a duplication at 7p21.1 Both of those anomalies occurring at the same time has the cryogenics and genetics doctors entirely baffled. I'm trying to obtain more information on this and see if there is more people out there with both anomalies than are known.

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Beth - posted on 03/22/2014

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Hi Jeannie Rizza,
My daughter has the same duplication. We just found this out as well. She is turning 11. She had delayed gross motor delay and struggles in math. She also has very short stature. We are currently waiting for an appointment with an endocrinologist to explore the the options of growth hormone therapy.

Megan - posted on 03/09/2014

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Does anyone know of chromosome 20p13 duplication? My daughter who will be 2 in May was diagnosed at 2 weeks old with it. All I keep being told is that it's rare and if I notice anything to bring it to a drs attention. For the last few months she's constantly falling into anything and everything. She will walk fine and just like trip and fall. Has some anger issues(more than the normal terrible 2s or 3s).

Dawn - posted on 02/21/2014

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My step daughter has 9p21.1 and 15q21.3. She was diagnosed moderate mental disability just over a year ago and also has ADHD and disruptive behavior disorder. Chronologically she is 10 but her ca is about 5. I had found out about Unique and even they do not currently have any cases with the same chromosomal abnormalities. The thing is that her mental disability isn't what is difficult to do with, we have learned to simplify things for her, no difficult chores and we know due to the ADHD to keep things in a short period of time, 20- 30 minutes. The difficult part is the disruptive behavior disorder. She knows right from wrong because she tells on herself often times. When I finally found literature on DBD all the characteristics fit her to a T. Defiance towards authority figures (me and her father) inability to take responsibility for her actions, stealing, lying, doing things to irritate others especially her brother who also has ADHD and can be very touchy at times. Sadly most every day is a battle. And what works to get her to behave one day does not always work a few days later. We we were seeing a behavior therapist but he said he had very little experience in dealing with mentally disabled children with the DBD. So I have been trying off and on for a year to find a behavior therapist with little luck. Recently her teacher has started have more problems with her behavior. She has gotten comfortable at her school so now the stuff starts up. I wrote a non sugar coated letter to her explaining to her that we deal with the brunt of her problems at home and have no real suggestions to get her to behave. Her teacher said she would do some research and get back with me. I told my husband with it being the special education teacher she may have some connections that we don't.

Lilliam - posted on 02/05/2014

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My princess passed away august 29 2012 she had trisomy 18 or eduard sindrome its so hard for me because l had decided the pregnancy termination at 20 weeks

Andrea - posted on 01/23/2014

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hi my name is andrea I have a son who is 6 he has global development delay a blood disorder speech and language delay hypermobility and now he has missing chromozone ten I don't knw what that means me and my ex partner had blood taken but that's it for nw can u please give me any information on what it means pls

Kim - posted on 01/06/2014

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my heart goes out to all of the mom's who have been told their child has chromosome abnormalities..I've been threw the same with my last pregnancy..I had no amniotic fluid because she only had one kidney and it was full of syst. she had fluid around her heart and severe disfigurements to her feet and face but threw my eyes,she was beautiful. She was born with Chromosome 10 on August 15th 2013 and her name was Janelle...I am sad to say she died only 3 hours after being born. And her lost was very difficult but I am proud that I did not have an abortion. Look up the song on youtube "I will carry you" They have been given to us for a reason and it hurts to let them go but don't give up. You have been chosen,God bless you xox

Jeannie - posted on 01/01/2014

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My son steven was just diagnosed with chromosone 16p11.2 duplucation. Hes twelveand has developmental delays ocd and anxiety. I would love to meet someone else whos child has this syndrome

Aiva - posted on 12/18/2013

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my daughter has 10q11.2 - 11.3 deletion.
She is on a ventilator 24/7 - we have 16 hours a day of nursing care.
She has an NG tube and will be getting a permanent Gtube at the beginning of next year.
She has severe hypotonia - meaning she does not move, at all.
When she is awake, she doesn't even have enough energy to open her eyes - so it always looks like she's sleeping.

She smiles sometimes - but rarely. She can't play / hold anything / look at anything for too long.

Aiva - posted on 12/18/2013

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I have a daughter (14 months) who has micro deletion of Chromosome 10 - I'm also pregnant and just found out today that the new baby also inherited the same genes as my 14 mos old. Now comes the hard part of deciding what to do next. My 14 mos old is on life support - ventilator dependent and needs 16 hours a day of nursing care and does not move. at all.
She smiles every once in a while - her eyes barely open.
I don't know what to do.

Carol - posted on 09/27/2013

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Hi
My son has reached the grand old age of 14 and just been diagnosed with 17p13.3 duplication, what a long journey we have had. I have found 4 other people with the same disorder but all have younger children so cannot really compare notes, wondered if there are any other mums out there with children of a similar age.

Michelle - posted on 09/10/2013

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I'm so sorry for your situation. I am going thru a very similar one and it is heart breaking not knowing what is going to happen with your child. What tests have they ran so far on yours?

Michelle - posted on 09/10/2013

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Hi, my babe is Michelle and I am 23 years old. My daughter is Sophie and she is 20 months. She has a very rare case. She has chromosome abnormality which is 7p21.1. According to all the doctors she sees at Miami children's hospital, it's an unknown type. She's had MRI'd, echos, blood work, x-rays and they can't figure it out. The genetics doctor wants to run a very expensive DNA test on her when she turns 2. She just started creaking last month and isn't speaking any words. She is a beautiful and happy girl. She also does 4 different types of therapy because of her developmental delay and hypotonia. No doctor can tell me what is going to happen with my daughter since it's unknown which is the scariest feeling a parent can have. Hopefully, I can find someone here with similar issues. Thanks and God bless

Deana - posted on 08/16/2013

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hell im deana of 37 of 3 childeren my son of 21mths he was born with HDR HYPOPARATHIRIDISM DEAFNESS AND RENAL FAILURE but now they found he has chromosone 13 three times im going out my mind with worry cause i dont know how its going to affect him physically or mentally just going out my mindb

Kim - posted on 08/14/2013

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Hi. my son has just been diagnosed with the 16p 11.2 micro deletion syndrome. he is 4 and has speech and language delay, webbed toes and has not concept of danger and struggles with interaction with other children. we were told last night by the pediatrician that the genetics councillor will get in touch next, but does anyone know what that entails?

Maggie - posted on 06/27/2013

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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!!

Katie - posted on 05/14/2013

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Hi ive just been told by a pedatrition that my little man william is delayed which i new anyway hes now having blood tests for chromosone an muccles ect just waiting in results they also want him to have a mri scan if bloods are all ok they also said that he is showing traits of autisim im so worried an going out my mind can sombody explain the tests.for.me an what can be detected in the chromosone test pls x

Katie - posted on 05/07/2013

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I am new to this group. I am 22 weeks pregnant and my baby was just diagnosed with a RING 15 Chromosome disorder. They have not been able to assign a specific syndrome to the baby yet, but they told me the outlook is not good. Currently our baby is about 3 weeks behind on growth, has Dextracardia (heart on the right side of the body), and enlarged kidneys, possibly horseshoe kidneys. They keep telling me prognosis is not good because the baby is so small. Has anyone else experienced anything like this? How did the rest of your pregnancy continue? etc. Any information would be greatly appreciated. We just want to know how to prepare. We currently have a 2 year old boy. At 6 weeks he was diagnosed with an AV Canal and had open heart surgery to correct it. Had some feeding issues after surgery and ended up getting a G-tube. He just had his tube removed this past November but we continue to go to feeding therapy. The drs do not think anything is connected with the 2 babies, but may have our little guy tested. Just want answers....

Cindy - posted on 05/04/2013

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My son Charlie will be 2 next month. He also has 16p 11.2 duplication. He is not walking yet by himself. I have been working with him on the push toys. he seems to do fine but he walks with his legs out to far and at times his feet turn out. Charlie does not speak any words except my momma. He begin saying that before he was a year old and is the only thing he has said before and after his cleft palate surgery. We have an early intervention who comes out to work with him, but I do not feel as if she is helping much. He has learned to do three signs but I think he is confused about what each me. I tild the SI that this disorder may mean autism in the future but she said she does not see autism and I should ignore the behavior that he does. This is Charlie I will not ignore him.

Kelli - posted on 05/02/2013

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Hello, my son is 2 and a half. Last summer he had genetic tests done. They revealed that he has a partial duplication of the XP 22.33 chromosome. It does not include the Shox gene.

Dawn - posted on 04/12/2013

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My 9 year old son was recently diagnosed with 3q29 deletion. Anyone else out there with the same syndrome?

Carmelita - posted on 04/11/2013

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Sorry I did not finished she is equivent to 6 months old I made lots of mistakes. She has thought me much

Leanne - posted on 04/01/2013

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We are in the process of adopting a little guy with a chromosome 2q duplication (2q 36.3 to 37.1). We have started an online support group on facebook to hear about other stories along their journey. Please join us at: https://www.facebook.com/groups/428138540612297/#!/groups/428138540612297/

Beverly - posted on 03/19/2013

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Hi, Krzyk is my grandson and he was diagnosised with a chipped 5th chromosome disease and I m wondering if it can be repaired? He didn't start walking til he was right at 3 years I think he s been walking for a pretty good while now. He is 5 now and this is his 2nd year in school he goes to pre k 1/2 day and k the other 1/2. His not really talking but is saying few words his a miracle baby he was born 3 months early. My husband could whole him in one hand at birth that s how small he was. I m going to tell my daughter monique about this website I think she will enjoy it. When he was 1st born his first year he spent most of it in and out of the hospital he would stop breathing and she'ld have to stop if she was driving and perform cpr and they'ld be off to the hospital for 2 weeks or longer.
for a long time he was just like a little dish rag flip floppy,but God What God can,t do no one can. God brought him through. I don't know if you've ever seen or know of the Ben Carson story. He 's a doctor at John Hopkins Hospital in Baltimore I m hoping he can help. May God cont. to bless all of you wonderful mothers keep your head up for God is your help and will always be your help.My grandson is so intellgent and smart just can't talk he is sweet. God Bless you Mothers.

Shanna Diane - posted on 02/20/2013

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I am a mother of two. I have a great son thats 5 years old and a daughter that will be 2 years old Feb. 28. She has unbalanced translocation of chromosome 10 and 11. She was born with a cleft palate which was fixed when she was 8 months. Shes had two sets of tubs in her ears, and last year she had open heart surgery to fix a hole in her heart. No crawling or walking yet. It will just take her a little bit longer than other babies. She is healthy and happy. I dont know what i would do without her. Shes my little angel.

Carmelita - posted on 01/28/2013

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I am new and old. My daughter is42 she has transfere chromosome diodes I am 72. Lots of experience need more information still learning

Maili - posted on 01/14/2013

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Hi my son is 3 years old and was diagnosed with autism in June 2012. They did a blood test a s said he has a chromosome abnormality and they do not know what it is. We have been waiting for four months for his appointment with a geneticist which is finally next month. Any advice will help, I've been researching a lot and Judy would like some advice

Joni - posted on 12/19/2012

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Hello moms maybe someone can tell me what is means to have too many 6 and 9 chromosones?

Shatasia - posted on 12/05/2012

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hi I am a mom of a two year old little girl name ariana she has a very rare condition as well. Ariana was born at 35 weeks born with a diaphragmatic hernia where her intestines was in her lungs. At just 3 days old my baby girl under went surgery in which that was repaired. After this she was tested for many things manly to see why was she born with this birth defect in doing so doctors found out that ariana was born with chromosome translocation of a chromosome 7.12 deletion and a duplication of chromosome 12. Throughout everything Ariana is fairly smaller than other children but has always been under the growth chart in weight she not so bad in height. She has sever ACID REFLUX and has been treated for that her entire life she always been smaller because she excessively completely spit up everything after every meal. Just this year right after her 2nd birthday which was oct 14 2012 she receive 5 surgery's where her appendix was taking out she had a lads procedure to completely enabling her to vomit a umbilical hernia repair and a gtube placed in and during surgery the surgeon said all her organs were pretty much pushed up together so he also put things in place. As of now she is very delayed in most areas she 2 and isn't walking or talking she commutates through different yells and cries and she crawls normally to get around she has a 4 month little brother name KJ who is a completely healthy big guy. Their dad carried the same trait but is chromosome where balanced so before my daughter was born he never knew. so there you have it we have one child born with a few complications' and another completely healthy. Ariana is a really sweet loving kid it take her awhile to understand things but she learns through retinues playing and reception. As most two years old do it just takes her longer she know her feet head comb her hair to stand to sit come here and stop she been crawling since age 1 and sat up at 8 months she been holding her bottle and finger feeding since 1 as well. at two we are working on speech being she still doesn't talk so communication is a must walking I believe she will be by the end of the month she been cursing the furniture for about 3 months now and we want her to potty train and try to get her learning recognize pictures and items in the meantime I do believe that one day Ariana will be able to sit in a group with children her own age and not seem so delayed oneday but for now im just looking for her to meet her full potently and that's all that matters I love and support her and encourage and am proud of every accomplishment she has made and and looking forward to the new ones she will make in the future.

Elizabeth Maria DeTemple - posted on 11/14/2012

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Hello, My name is Elizabeth, and My son Lucas is 2years 11 months old now he was born February 1, 2010 Lucas was born at 37 weeks 2 days old. He was born with a Pierre Robin Sequence, Cleft-palate, a 3p12.3p11.2. All i was told about this chromosome material is that is has a potential to cause some health issues... Significant Deletion at least 9 genes in this region Lucas has one copy fo all of these genes. They say the deletions of 3p are rare and some of the features that are affected is heart finding, Disinct facial features found in some patients. Lucas has a difficulty gaining weight. He had a cleft-palate and not the cleft lip. Lucas has Reflux and Eye Finding, He had 2 eye surguries already along with two sets of ear tubes placed. He had a fundoplacation done at 2 weeks old and a g-tube placed. Just recently he was able to have his feeding tube taken out although he a long way to go with him having developmental delays. thay also say there are kidney an brain findings. We have been following up with the Ophthalmology, Neurology, Cardiology, Cleft-Palate Team, Urology/Nephrology and Early Intervention. Does anyone know anything else i could learn by someone elses experience? Thank you

Carol - posted on 09/16/2012

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Hey, I am a great grandma with a beautiful little great grandbaby with a partial deletion of chromosome 7q 31.3. She is a year old now, weight 11.11 pounds and is 22 inches long. Loves to roll, having problems using her arms and holding her head up whil trying to crawl. Has not been able to suck a bottle, so she gets tubing feedings.

Would like to talk to anyone with a child with this same condition. My granddaughter has been told that they are not sure what her limitations will be since it is very rare.

Ena - posted on 09/14/2012

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my son it 3 almost four dec is his bithday he has 3q29 deletion. idk what kind of problems it may come from this because he was born at 24 weeks and 1 day as well so i do not know if its from his chorm disorder or hoim being born at 24 weeks it made me really sad when i learned about the 3q29 deletion becaused how unlucky can myboy be two things working not in his favor.... his a happy boy and his learning how to talk and getting potty train ya im very glad of his school and what they do for him

Nicole - posted on 09/14/2012

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Hi

My youngest daughter Gabriella is 3 years old. She was diagnosed with autism, 1q21.1, and xp22.33. Her chromosome 1 deletion is in the TAR region while her chromosome X duplication is in the SHOX. Gabby was diagnosed with autism a few days before her second birthday.

She had severe acid reflux as a baby as well as food intolerances. At this time she also presented with a smaller head, doctors claim only within the 3rd percent tile. She also struggled with OCD, PICA, and major anxiety issues.

Right before her second birthday I put her on a very strict diet. This helped her food intolerances and acid reflux immensely. I also took her to a holistic physician whom put her on vitamins, minerals, homeopathic and holistic supplements. This helped regain her speech she has once lost, it also helped greatly with her social skills and major sensory issues. I felt we were making great strides but still felt I was missing something. I requested genetic testing when Gabby was about 2.5. A little before her 3rd birthday I learned of her genetic disorders. I have also been tested, I have was found not to have any known genetic abnormalities. We continue to seek out holistic intervention today because the amazing changes it has contributed to.

Gabriella is now almost 4 and shows no signs of any developmental delays, she is now growing and thriving and her head is within the 7th % tile. She has really defied all odds at this point.

My only concern at this time is I found her hair is thinning on the right side of her head. I requested thyroid tests that showed her tsh was at the highest end of normal, while her t4 was on the lower side (but still within normal range). The biomedical approach to autism suggests that she should have hormone replace therapy.

I have sought out multiple doctors 2 neurologists, 3 pediatricians, 2 geneticists,1 developmental pediatrician and 1 holistic physician . The only one that has been of any help to us was the holistic physician :(

The lack of knowledge and communication amoungst the doctors often scares me.

Angelina - posted on 09/10/2012

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I'm new to this. I read Galloway's post OMG! we need to talk,

Hi my name is Angelina. I have two children a daughter, 13 who is a GT student and my Noah, 3 he has an 11th chromosome deletion. He has a processing and speech delay however very smart. He has allergies, eczema and is hyperactive. I to have been told that he has an auto- immune system issue. We still need more testing and I have so many questions!

Everyday is differant for us. Somedays our Noah is connected, speech will be clear and other days he will regress. Thank you for sharing! and I Thank God the site came up.

Pam - posted on 05/01/2012

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My son has a chromosome 16 deletion. We adopted him at 9 months old and he turned 5 in April. He was born with a cleft palate. I don't know much on the birth mother except she is considered mentally retarded. I refuse to use those words to describe my son. He is developmentally delayed and is perfect ( I am biased). He has been in speech, cognitive, and physical therapy since coming to our home. I was told he would never walk or be able to do much on his own much less communicate with us. He started walking or I should say running about age three. We had a wonderful speech therapist who taught him sign language as well as oral. He communicates just fine. He has started using sentences during the last few months. He does have medical issues such as asthma and acid reflux. He is on breathing treatments daily and takes a couple of other medications.
The Genetics Doctor has been vague on this chromosome deletion. He said it can be characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. Any information that some of you may have would be appreciated. Thanks!

Michelle - posted on 04/29/2012

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Rereading my previous posts made me realize that the old info is wrong. Aiden has 22q11.2 microduplication with ASD, ADHD & OCD tendencies. He escaped almost all the major organ problems the DS kids have. Immune function came back normal but he's had MRSA several times. Testing came back for the rest of us. I have a larger duplication than Aiden but I also have 22q11.2 microduplication. Testing is going on now due to my own health problems that I've had for a while & a recent loss to our family. I delivered a sleeping baby boy at 15 weeks gestation. No one was able to tell me why this happened but they're thinking my structural problems (my uterus is tipped & wither septate or bicorniate) & genetics played a role in it. My husband Jason & my son Torin share the exact same 12q21.31 microdeletion. Jason is moody & has depressed episodes whereas our son is now starting EI services for his poor social & emotional development & his cognitive problems. Our pediatrician says he needs an eval with someone else but he thinks Torin may be PDD. He's bright but sometimes he doesn't understand & he has also lost some skills like sharing & taking turns that he had mastered before age 2. He's very sensory especially in the oral & proprioceptive sense & will be starting feeding therapy soon. I've been wondering if it's not benign like the genetics folks said but rather variable like the 22q duplication is.

Also, I didn't realize I never posted this info for the 22q families. c22c.org is Chromosome 22 Central. They help people with all kinds of 22 disorders including Cat Eye Syndrome, Emanuel Syndrome & 22q del/dup. They have a facebook page too.

Kathy - posted on 04/28/2012

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My name is Kathy Davis and I'm expecting a granddaughter in July, 2012. She has spina bifida, cleft palate, bilateral cleft lip and is very low weight. Genetics testing showed she has a duplication of the Q band of chromosone 2. Can any one tell me about this?

April - posted on 04/27/2012

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my daughter has a microdeletion of 2q23.1, she is 10yrs old. We found out 2 years ago. we were told that there were only 15 other children that had this at the time and now we have a facebook page with a lot of children. the drs are saying it causes autism. my daughters cerebellum stopped growing also so she has really poor motor skills.
do your children walk, if they do, do they walk with a wide gait and hold their hands out for balance?

Michelle - posted on 03/24/2012

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April, my oldest son, now 5 1/2, has 22q11.2 duplication. My story's not the same, but the syndromes are similar.



Since my last post, we've been though a ton of things. We found out Aiden's little brother has 12q21.31 deletion & so does my husband, learned more about 22q duplication & found out that both myself & my sister have it too.



Believe it or not, I found a lot of support on Facebook. I belong to several private groups there where I can talk about SN in general or about the specific disorders my kids have.

Lisa - posted on 03/23/2012

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Hi, my name is Lisa and my daughter has just been diagnosed with 1q 44 duplications. I was just wondering if there is anyone out there with the same diagnosis or has any information on this duplication as at the moment we have no information at all. Jamie- Leigh was born with facial asymetry, severe brachecephaly, curled pinky fingers, she has never been able to feed properly and has high calorie shakes to try and keep her weight up. She also has mild sunken chest, prominent forehead, small chin, tongue-tie she is also very slim for her age probably due to her poor eating habits. She has been slightly delayed in meeting her milestones and she very hyperactive but she is also a very happy child most of the time. Any advice would be more than welcome.

Marie - posted on 02/20/2012

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My DD just turned 2 on Friday, as a birthday gift we found out she has a deletion on 15q13.1-q13.2. Our geneticist has literature on only six cases and very little information. We are wondering if anyone has this deletion or knows where to find info about it. I have googled it, checked Unique, and find nothing. She has had issues since I was about 20 wks pregnant, and is now followed by 11 specialists...Any help would be appreciated.

Rashonda - posted on 04/08/2011

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Hi, my son is 19 months and has a chromosome 1q42 duplication and 44 deletion he belly crawled at 13 months and hands and knees crawled a few months after. He is delayed in all of his milestones. His dad and I were both tested and do not have any chromosome abnormalities. When I see other children his age, it really hurts me to see the things that they are doing and my son is not but he is making steady progress, which is a blessing

April - posted on 03/23/2011

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My son is 3 1/2 and was diagnosed sometime after he was around 4 months old. He has Di George Syndrome with an ASD (minor thankfully), really bad GERD, globl developmental delay, slight immune problems, chronic respiratory issues, micrecephaly? (pretty normal for the syndrome), bad scoliosis, and polymicrogyria (not associate with Di George) but probably the cause for his motor problems. He has had a gtube and nissen fundiplication surgeries, as well as a laryngeal hemangioma removed. He doesn't speak but does coo and grunt. Although no speech, he is able to convey his emotions through the different sounds he makes. He has PT, OT, feeding clinics, and Speech therapies. Through all this he still has a really great disposition and will give a great big smile even after a bad vomiting episode. Hoping this group will put me in touch with ANYONE with a similar story. Thanks for reading:)

April - posted on 03/23/2011

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My son is 3 1/2 and was diagnosed sometime after he was around 4 months old. He has Di George Syndrome with an ASD (minor thankfully), really bad GERD, globl developmental delay, slight immune problems, chronic respiratory issues, micrecephaly? (pretty normal for the syndrome), bad scoliosis, and polymicrogyria (not associate with Di George) but probably the cause for his motor problems. He has had a gtube and nissen fundiplication surgeries, as well as a laryngeal hemangioma removed. He doesn't speak but does coo and grunt. Although no speech, he is able to convey his emotions through the different sounds he makes. He has PT, OT, feeding clinics, and Speech therapies. Through all this he still has a really great disposition and will give a great big smile even after a bad vomiting episode. Hoping this group will put me in touch with ANYONE with a similar story. Thanks for reading:)

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

Heather - posted on 11/15/2010

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Hi Heather, I am also Heather Cramer. Great Name! I come from a family with many people with an unbalanced chromosome disorder, 2 brother, cousin, and now my son. I grew up quickly and was quick to defend and fight for my brothers. Luckily we found great people in our lives who accepted them and we live in a community where they are very active and respected. Now that I am a mother of a 4 year little boy with the same issues, I see the same things happening to him as I did my brothers- only this time I can not fight the culprits, because they are kids too. It hurts, but i have come to realize that kids are just kids and different is scary to them. Adults don't seem to bad anymore with the acceptance of disabilities in the country improving, but there are some that stare or worse take their kids away from playing with him. I write them off and feel bad for them because they may never be able to fully appreciate the first step, or first word parents with SN kids are able to. Although the sadness creeps up sometimes, we focus on what our son can do, and by encouraging him he has developed much further than if we only saw negatives. My parents taught me by raising my brothers in an active community that by -not giving kids or people the chance to get to know them, that we were not being fair to my brothers. I am raising my son the same way. Your son is going to teach you more than you can ever imagine. Keep in touch. h

[deleted account]

Hi my name is Heather Castelan, I actually just joined this group. I have two sons my oldest is matthew and he just turned three last month and is "normal". Than i have my David he will be 11 months on the 27, and we found out back in February that he has a chromosome deletion on his 9p at his 22.2 to the end. He has global delays, and has the triangle head with it, we are actually going to be having surgery on his eleventh month birthday to reshape his skull. How do you parents with children with delays deal with it looking at other children the exact same age that are so called "normal" and doing what they are suppose to be doing without feeling bad for your child? It makes me sad when i see other kids doing things that my david will not be able to do in a long time. He will eventually, but not for awhile.

Michelle - posted on 05/27/2010

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In addition to CDO there are other organizations. UNIQUE is worldwide & based in the UK. I'm registered with both.
www.rarechromo.org/

Tasia - posted on 05/27/2010

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Hi there, i have 2 children who both share the same Chromosome Disorder, Floreign is 2 1/2 and Josiah has just turned 1. My children have an unbalanced chromosome translocation of chromosome 1 and 3. I was also told that this disorder was very rare, Ive never met anyone with with a child or who knows anyone with the same translocation, Both my children are delayed with reaching their milestones. They both are very happy children.

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