Chromosome Disorders

Sara - posted on 06/15/2009 ( 49 moms have responded )

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Hi, I was just wondering if there are any Moms on here with a child(ren) with a chromsome disorder. I have a 6 yr old son "Gabriel", and he has partial deletion of chromosome 2q.

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Tracey - posted on 07/17/2009

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My son has Williams Syndrome which is a partial deletion of chromosome 7.

Beth - posted on 07/16/2009

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Quoting Jessica:

Hello. I have a daughter that has Trisomy 13. My lil girl went through alot but she overcame all that doctors said would of happen. Don't get me wrong it was hard. But God seen us through it all


Hello, My now 14 month old son was diagnosed with partial Trisomy 13. Since birth he has encountered many medical problems, has overcome some, and still facing many. His story and up dates are posted on www.livingwithtrisomy13.org under Milton Gage Elliott. Here is a poem that that I came across right after his diagnosis that has alot of meaning. God Bless you all.



HEAVEN'S VERY SPECIAL CHILD



A meeting was held quite far from Earth!



It's time again for another bith.



Said the Angels to te LORD above,



This special child will need much love.



 



His progress may be very slow,



Accomplishments he may not show.



And he'll require extra care



From the folks he meets down there.



 



He may not run or laugh or play,



His thoughts may seem quite far away,



In many ways he won't adapt,



And he'll be known as handicpped.



 



So let's be careful where he's sent,



We want his life to be content.



Please LORD, find the parents who



Will do a special job for you.



 



They will not realize right away



The leading role they're asked to play,



But with this child sent from above



Comes stronger faith and richer love.



 



And soon they'll know the privilege given



In caring for their gift from Heaven.



Their precious charge, so meek and mild,



is HEAVEN'S VERY SPECIAL CHILD.



 



By John & Edna Massimilla

Sara - posted on 07/12/2009

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Quoting tracey:

hi i have a 10 year old with mcrodeletion of xq24 syndrome i know nothing about it its very frustrating



I didn't know anything about my son's disorder, but the Children's hospital was great and researched it for me and sent info for free! Ask your pediatrician to give you resources. Or ask geticist to research it for you. How has your 10 been affected by their disorder? Thank you for responding!!!

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Judy - posted on 03/17/2011

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hi sarah my name is judy iam 24 yrs old. I have a deletion of my 8p chromosome and a mutation of my #2 and #4. whats odd about it is tht i just found out on Dec 27,2010 after my daughter Noehmy's birthdate, she was tested on childrens boston on the genetics dept an she has the same exact deletions except one more chromosome the 15 is also missing a tiny piece. she has microsephellis, behavior problems at her age. vowel movement problems and to make things worst doctors are considering the g-tube. I know what you are going thru with your child, try childrens boston they would help you so much if our not seeing any one their.

Judy - posted on 03/17/2011

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hi sarah my name is judy iam 24 yrs old. I have a deletion of my 8p chromosome and a mutation of my #2 and #4. whats odd about it is tht i just found out on Dec 27,2010 after my daughter Noehmy's birthdate, she was tested on childrens boston on the genetics dept an she has the same exact deletions except one more chromosome the 15 is also missing a tiny piece. she has microsephellis, behavior problems at her age. vowel movement problems and to make things worst doctors are considering the g-tube. I know what you are going thru with your child, try childrens boston they would help you so much if our not seeing any one their.

BobbiJo - posted on 09/09/2009

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My son has a chromosome disorder that is 47 xxy . Also known as Kleinfelter's syndrome.

Cheryl - posted on 09/08/2009

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my daughter carly has partial delettion of chromosome 3 would like to talk 2 ppl especially anyone similar

Tess - posted on 07/19/2009

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We have a daughter named Lauren about to turn 4, who also has an extra X chromosome. Also known as triple X syndrome or 47XXX.

We are blessed to say she is a beautiful and sweet and caring girl. She does have some speech delays, as well as some learning delays and is very shy. For the most she gets along pretty well.

We do get frustrated on occasion and so does she, but she is very smart and loving. We know she may have to have some special education, but we will do what we need to.
Since going to preschool and she is just finishing up her potty training, she's gotten so independent.

The geneticist told us that she will likely have approx 10 point less of IQ than another child in our family. We planned on having just the one child, but she was born premature by 2 months and I did not have my tubes tied due to all the extra happenings.... :)

Then along came sister Gracie who will be 2 in Nov. I see that God gave us Gracie as a younger sister protector!! She takes no crap, and nobody better give her sister any crap.

It's great!

Colette - posted on 07/16/2009

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my son has a 6q deletion; I guess on a different area because my son is tall for his age, but he does not walk or talk. What other issues does your son have?

Colette - posted on 07/16/2009

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Quoting Kathy:

If you haven't already- Look into UNIQUE they have a huge membership and data base of rare chromosome disorders.



I can 2nd this.  UNIQUE is awesome and they sent me all kinds of information about my sons deletion as well as support parents in my state.

Rachel - posted on 07/16/2009

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Our 7 yo girl is has Chromosome 18p deletion, but it must be a micro because its not the whole arm, and they did some new test in Jan that said that the break is smaller than they(Geneticist) thought. In the end, since we've been living this for so long, doesn't really change my day-to-day. Our story could for pages and pages, but what it boils down to is lots of patience, that I never thought I had. We have lots of years of speech ahead of us still, but she is making LOTS of progress. She will be starting 1st grade in the fall, we thought she might have to repeat Kindergarten. Yeah for Natalie! And probably within the next year we will be able to drop the outside (of school) OT program! She's picked up shoe tying in 2-3 weeks. She's almost ready to start doing it on her own shoes. And I'm hoping that by Dec/Jan we can put the eye patching away, again. So there is progress, however slow it is some days.

Collett - posted on 07/16/2009

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Hi I have a little girl with Downs Syndrome, wich is also a Chromsome disorder. And you are blessed to have a child like this, because GOD only gives special people children like this

Kayla - posted on 07/15/2009

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I googled 99 balloons and I don't think I've cried more for a family I've never met. Their story is a very touching and sad one. I only pray that I never experience that type of pain.

Angie - posted on 07/15/2009

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Hey i think some of u moms might want to check out a story i was told about google 99 ballons

Nancy - posted on 07/14/2009

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Hi My son and I both have a Chromosome disorder 8p+..... My first born also had the same but we lost her at the age of 7months.....

Tracey - posted on 07/14/2009

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well he cant walk or talk has global developmentel delay dismorphic features seizures immunodefeciency disorder which i have to give him infusions every week a congenital heart condition which he had repaired behaviour issues hip problems eh the list goes on!! but amazingly he is such a happy child always smiling no matter what!! how about yours how are they affected? and how do you cope it is hard going but i think it makes you stronger as a person thanks for the reply xxxx

Jessica - posted on 07/13/2009

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Hello. I have a daughter that has Trisomy 13. My lil girl went through alot but she overcame all that doctors said would of happen. Don't get me wrong it was hard. But God seen us through it all

Tanya - posted on 07/13/2009

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My 7 yr old son Daegan has Cleidocranial Dysplasia/Dystosis which is an extremely rare form of dwarfism. His is caused by a genetic micro-deletion of chromosome 6q21. In his case the deletion also affects neighbouring regions. He also has other unrelated medidal issues of varying rarities.

Kayla - posted on 07/13/2009

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Quoting Shelly :

My daughter was born with Trisomy 21 as well, She is 10 Weeks now, not really sure what to expect as the days go by. Being home from the NICU after 7 weeks, we are now back in the hospital with pneumonia just 2 weeks later. Any advice would be grateful!



Hang in there. It gets better. The first 3 months of my sons life was tough but hes 9 months now and doing great.

Kayla - posted on 07/13/2009

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My son Wyatt is 9 months and was born with trisomy 21 Down Syndrome. He was also born with tetralogy of fallot which is a severe heart defect. He had open heart surgery at 4 weeks. He is great now. His speech is delayed and he isn't sitting up yet but other than that he is fine. He is the happiest baby I've ever been around.

Sara - posted on 07/12/2009

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Quoting Jennifer:

I have an 11 year old daughter that is missing 2q13 it is a rare chromosone disorder. she has a lot of problems.



Sounds like my son, and similar karoytype! How is she doing? Thank you for responding!

Sara - posted on 07/12/2009

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Quoting Sara:

Yes, my daughter Chloe has a ringed chromosome #22. Well, its actually called 'Chromosome Ring22' but it means that her 22nd chromosome formed into a ring instead of being the way it should be. How is your son doing?



Everyday he makes another progressive step, and every other year we take a couple back. He is missing the tail section off the second chromosome in the second pair. Geneticist predicts he is always going to be really behind developmentally and physically. How has Chloe's disorder affected her? Thanks for replying!

Sara - posted on 07/12/2009

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Quoting Erin:

My son also had 22q11 deletion syndrome. I am so glad to have found a support group on here for this! I haven't met anyone else with kids who have similar problems. Thanks :) My name is Erin and my son's name is Jackson. He is almost four months old.



How is Jackson doing? He still is so small. My son wasn't diagnosed until he was a year and half old. Is he your only child?

Sara - posted on 07/12/2009

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Quoting Susan:

My 2 year old daughter was diagnosed with 18q21 deletion last october. She is so smart! She has global developmental delays. She is starting to show signs of possibly walking soon. She does not talk yet but shows an interest in making noises. She uses sign language. She is the happiest, most easy going baby I have ever met. She is beautiful & melts hearts every day. I am busy everyday with nonstop appointments to help her get where she needs to be. Being her mother is so rewarding! I couldnt imagine my life without her.



Aw, bless her little heart! This is so familiar, like deja vu!!! M y son Gabriel didn't start out walking till a liitle after 2. He started using sign and then a talk box, but now uses enough words to where we can understand him(part of the time). Great attitude Susan!!! Keep up the fight, it's so worth it!!!

Sara - posted on 07/12/2009

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Quoting Amy:

I have a 4 year old son and 5 month old son. Both have microdeletion on Chromosome # 15 : 15q13.3



And what does that entail? I am curious, I had no idea there are so many different chromosome disorders!!!!

Sara - posted on 07/12/2009

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Quoting Annemarie:

hi my son has 2 mixed chromosones cant think of which ones . i dont think of them as he has other problems aswel . he has learning dificulties maybe on the autistic spectrum a few eye problems and now he has gone blind in one eye. he is 11yrs old. I have had to fight alot to get him help. how does it affect gabriel.



Gabriel has some anomalies in his hands and skull, and he is severely developmentally delayed. With his disorder, they thought that most likely he would have some holes in his major organs, but we have seen every kind of specialist under the sun, and his organs are all fine. He is also very lttle for his age, and really thin. He has low fat on his body, and hard to gain weight. He just finished Kindergarten this year with unsatisfactory marks, and his teachers and therapists recommended that he be checked for seizures. They think he is having them in class. So, that has been a new battle, we are now currently seeing the neurologist again. Thank you for responding! How is your son?

Shelly - posted on 07/12/2009

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My daughter was born with Trisomy 21 as well, She is 10 Weeks now, not really sure what to expect as the days go by. Being home from the NICU after 7 weeks, we are now back in the hospital with pneumonia just 2 weeks later. Any advice would be grateful!

Tracy - posted on 07/12/2009

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my daughter whos now 18 as kabuki syndrome that i think is something to do with the 8th chromosome

Amy - posted on 07/10/2009

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I have a 4 year old son and 5 month old son. Both have microdeletion on Chromosome # 15 : 15q13.3

Susan - posted on 07/10/2009

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My 2 year old daughter was diagnosed with 18q21 deletion last october. She is so smart! She has global developmental delays. She is starting to show signs of possibly walking soon. She does not talk yet but shows an interest in making noises. She uses sign language. She is the happiest, most easy going baby I have ever met. She is beautiful & melts hearts every day. I am busy everyday with nonstop appointments to help her get where she needs to be. Being her mother is so rewarding! I couldnt imagine my life without her.

Erin - posted on 07/08/2009

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My son also had 22q11 deletion syndrome. I am so glad to have found a support group on here for this! I haven't met anyone else with kids who have similar problems. Thanks :) My name is Erin and my son's name is Jackson. He is almost four months old.

Sara - posted on 06/29/2009

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Yes, my daughter Chloe has a ringed chromosome #22. Well, its actually called 'Chromosome Ring22' but it means that her 22nd chromosome formed into a ring instead of being the way it should be. How is your son doing?

Tracey - posted on 06/29/2009

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hi i have a 10 year old with mcrodeletion of xq24 syndrome i know nothing about it its very frustrating

Jennifer - posted on 06/25/2009

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I have an 11 year old daughter that is missing 2q13 it is a rare chromosone disorder. she has a lot of problems.

Gail - posted on 06/24/2009

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my 11 y.o. daughter has an extra x chromosone- called 47XXX. she is very disabled, in a wheelchair, no speech, incontinent, does not wieght bear, seizures. gail

LeeAnn - posted on 06/21/2009

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ok, thanks, I will look into this site. I have a packet that the geneticist gave my husband and I when we went for our consultation, but still want to learn more from the moms and dads who are actually living with this, not just a research site....The information is great, but I want to hear the day to day things....Thanks again

LeeAnn - posted on 06/21/2009

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Is that on here? I haven't heard of it, but haven't been a member on here for very long either.

Kathy - posted on 06/21/2009

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If you haven't already- Look into UNIQUE they have a huge membership and data base of rare chromosome disorders.

LeeAnn - posted on 06/20/2009

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My daughter is 2 1/2, and has Velocardiofacial Syndrome, which is also Chromosone 22 Q-11.2 deletion. I don't know if this is the same thing, or even close, but am trying to find other moms with children with this disorder. She also has Autism, and we just found both of these things out in March 2008. Any help will be greatly appreciated.

Annemarie - posted on 06/18/2009

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hi my son has 2 mixed chromosones cant think of which ones . i dont think of them as he has other problems aswel . he has learning dificulties maybe on the autistic spectrum a few eye problems and now he has gone blind in one eye. he is 11yrs old. I have had to fight alot to get him help. how does it affect gabriel.

Kathy - posted on 06/17/2009

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I'm hanging in there- there always seems to be something going on- Next Month my son's having reconstructive surgery on his feet- both of them in a 3 week period) and he'll be unable to walk for about 6 weeks. Ok. now that I had my moment- how are you?

Kathy - posted on 06/15/2009

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My son (15) has partial trisomy 16q. I joined Unique- a rare chromosome disorder support group, as well as a support group for Trisomy 16.


There are a lot of groups out there!!!!

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