DS diagnosed with rare 2q32 chromosome deletion after genetics test.. - Mothering Forums

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#1 of 36 Old 02-14-2011, 07:07 PM - Thread Starter
 
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Hello mamas. DS is 19 months and finally we have reached some answers. He was born with a cleft soft palate, and had tons of feeding issues the his whole 1st year. He is skinny, barely on the charts. Has had issues gaining weight since he was born. He fell behind developmentally and has been receiving speech therapy since he was 12 months old. He has some low muscle tone and issues with his pincher grasp. He doesnt use words, only sounds. He finally started walking when he was just over 17 months old.  He was tested genetically when he was born but passed both of the standard tests. A few months ago we saw the geneticist again and she recommended doing one more test. The test came back and he has a small deletion of 32nd part of the 2nd chromosome - 2q32 microdeletion. Basically tying everything together and giving us the real reason he has had problem after problem - slow growth, developmental delay, the cleft.. He is doing well and making big strides every day. His case is mild compared to what it could be. He is most likely going to have a learning disability and need help in school. Ive been tested to see if I carry the same gene, waiting for the results. The only thing is there is barely any info or support out there. They have only had the technology to detect this since about 2005.

 

Are there any other mamas going through this? Anybody with similar issues? I would love to find some support and compare experiences.
Really the only place I have to turn to is www.rarechromo.org and its not much! Hoping for some feedback.            uhoh3.gif

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#2 of 36 Old 02-14-2011, 11:21 PM
 
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Hi there!

 

My DD (33 months) has both a micro-duplication on her 1st chromosome, as well as Noonan Syndrome. The duplication was the first of the two diagnoses and it was a very difficult time because there are NO other recorded cases of this particular duplication. There are a few recorded cases of other kids with larger gene involvement and they are either severely affected, or have passed away. :(

 

DD has been delayed in meeting her milestones - she walked later than your son - 19 months. She has fairly severe hypotonia - she still can't run or jump and is pretty "floppy." Feeding is our main issue - she's 100% g-tube fed. She has a pretty decent vocabulary, but can be a bit hard to understand (probably due to the low muscle tone). She has cognitive delays, but not severe. Her future function is unknown...

 

I just wanted you to know that you're not alone. I've been there - it's so hard....

 

Hugs to you...

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#3 of 36 Old 02-15-2011, 08:43 AM
 
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My 19 month old has a deletion of 9p. She is not walking, she has about 5 or 6 words and her fine motor is pretty age appropriate. She also suffered seizures at 6 months, and I think the meds she was in for them slowed her development down. Her deletion is not super common, but it is also not rare. We have a yahoo group. The range of developmental issues is huge though, so a lot is really unknown for us as well. There are quite a few parents on here with kids with chromosome issues. We had a whole tread about it last year. 

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#4 of 36 Old 02-15-2011, 05:58 PM - Thread Starter
 
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thanks for replying ladies... i have a feeling DS is going to write his own book and we will be figuring most of this out on our own as he grows.

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#5 of 36 Old 02-23-2011, 07:13 PM
 
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I don't come by often, but I try to chime in on rare deletion threads. Your child WILL write his own book. My DD has a deletion on 9p. She walked at 25 months. She's now 6 1/2 and her biggest issues are fine motor and visual/motor coordination (AKA  writing and drawing). She is in a small private school and doing very well. She went to public preschool and got great services, but we thought she would be lost in a big public kindergarten (she has some behavior issues in groups), so we went with the private school. She will be playing "Twinkle" in her upcoming Suzuki violin recital, after 2 years of lessons. When she started violin, the first thing the teacher worked on was just being able to stand still briefly. Then we progressed millimeter by millimeter by millimeter with a phenomenal teacher.

 

If you have the time and resources to do it (and can find a great teacher), I think violin can be great for SN kids. (sorry for the digression -- DD has just made some huge leaps in this area and it's been very exciting).

 

Davidah

 

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#6 of 36 Old 03-01-2011, 11:13 AM
 
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Hey joy.gif

I'm so glad that there are others out there who have children with the same chromosome abnormalities as my son. He is 36 months old and can not speak, he only makes noises but he makes himself understood. He eats a lot, more than me. doctors here in Norway know almost nothing about this error chromosome 2q32-2q33. so I'm sitting here with 1000 questions. There is no evidence of others here in Norway, with this type of disability. so that would be fun to have had contact with other parents who have children with this chromosomal defect.

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#7 of 36 Old 03-03-2011, 06:19 AM
 
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Hellodust.gif

 It would be awesome if you had created a blog, it's sodisturbing to sit alone with my experiences. my son is 3 years and can not yet talk, walk or stand alone. I'm sitting with thousands of questions. it was great that you answered. Thank You

 

camilla pettersen 

cp_882@hotmail.com

Norway 

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#8 of 36 Old 03-03-2011, 05:59 PM - Thread Starter
 
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wow! so happy to find you mamas! im looking forward to gathering information from the both of you and sharing my son's journey as well. PM me any time, id love to share photos. stillheart.gif

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#9 of 36 Old 03-04-2011, 04:48 AM
 
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so fun. I'm so glad I found you: D it has relieved the pressure in mychest. looking so forward to talking more with you both: D but theonly thing that is boring what is the time difference from the U.S. andhere in Norway? would be nice to chat with both of you:) hugs from arelieved mother in Norway <cold.gif

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#10 of 36 Old 03-08-2011, 04:14 PM - Thread Starter
 
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I got a copy of your post that got deleted with the address in my email. just left a comment on the site! thanks so much for putting the effort into making this happen!

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#11 of 36 Old 03-09-2011, 01:10 PM
 
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My ds has a microdeletion of his 2nd chromosome,2q13.He was born with Tetralogy of Fallot,a congenital heart defect.He also has Asperger's.He walked at 17 months after some physical therapy,talked around 2.5 after months of speech therapy(pretty much only we could understand him),refused to eat solids(he would gag) until he was almost 3,he lived on yobaby drinkable yogurt for years I swear,now that he's almost 10 he's doing very well.He eats ANYTHING now,so much so that he's overweight by quite a bit(we're working on that).He's in a self contained classroom,still receives speech and occupational therapy,and is at about a 3rd grade level(he's in 4th).Ds's geneticist thinks everything is tied together.He also has an issue where he can't walk too far,his legs start to hurt.This has been going on his whole life.So he still uses a stroller on occasion.I'm trying to phase it out slowly,then I'll find a place to donate it.His geneticist saw he had breast tissue so sent him to an endochronologist,and we're waiting for the test results.Should know in about a week.


Student mama to one awesome,talented and unique dd,15 and one amazing, sweet and strong ds,12(born with heart defect Tetralogy of Fallot,also on the autism spectrum),9 cats,and 2 gerbils.
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#12 of 36 Old 04-17-2011, 01:17 PM
 
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My ds has this, too.  You are not alone. His lab work states he has a "-1.2 Mb size gain at chromosomal region 2q32.1".  So we found this out about a year ago, and like you, my husband and I got tested.  Turns out my husband has it but he functions normally.  They do not know enough about this, our geneticist says they are the only two cases (I wasn't sure if he meant here in our area or that he knows of); but obviously he isn't.  I've been googling to find similar cases and it seems they are all varying.  I found the "Unique" pdf from rare chromo also and it is very insightful yet the cases in there seem a lot more severe than my son's. 

He is currently diagnosed with cerebral palsy, autism, microencephaly, static encephalopathy, and developmental delay. 

Knowing that my husband is "fine" with the deletion we are onto metabolic testing.  My son is small in size, slim, and is never on the height and weight norm, he is always under but constantly going up, just not to standards.  He sees neurology, endocrinology, and receives therapy services in school   He is in self-contained ESE class.  He just started walking on his own at age 4 (he will be 6 this year), does not talk (does make sounds), and he is as sweet as can be (very affectionate and happy).  He is a blessing!  We have a daughter (age 8) and she is "normal" and is very sweet and understanding.

I would love to hear the progress your child is making.  Keep in touch! 

 

 

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#13 of 36 Old 05-24-2011, 10:16 AM
 
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Omg!!!! Finally ...Someone who I can relate to!!! My son has 2q32 syndrome...more specifically, 2q(32.3-33.2). My son just turned 6 years old on May 16 smile.gif. I have been writing to unique ( his picture is the one used for the leaflet on 2q 32 syndrome) I've written to the author of the medical journal who did the study on the 4 patients, and I've been to 2 genetics Dr's. No one was able to give me any answers on what to expect. So here's what I can tell u... My son was born 7lbs 4 oz, cleft of the soft palate and bilateral clubbed feet. He had the haberman bottle and gained weight fine til he got the Rota Virus when he was 1y6m and lost 20 percent of his weight. He's been under weight/height ever since. He had his cleft palate repaired at 1y 8m and his clubbed feet surgery at 2 years. He started walking after his foot surgery and still every once in a while limps when he runs.

Current time: DS was diagnosed by the public school system as intellectualy disabled last year. We live in Miami, Fl. And the public school system for ese here is garbage. So, DH and I decided to pay for a special education private school. Since starting ther last year, he's made incredible advances. My son had poor oral motor control and drooled, and he's stopped doing that since starting the new school. He had no speech or even sounds...and now he says mama and papa and makes conversations (using sounds like words) and tries to communicate. He is FINALLY potty trained!!! He uses some sign language like "more" and "me" and "pipi". If I regret anything, its not starting sign earlier. Its a great tool for communication, especially since he gets really frustrated when he can't communicate what he want/needs.

I'm sure I will be posting more as it comes to me. I'm excited to here about ur experiences and to see if they have the same deletion or not. Hipe to hear from u soon...smile.gif
Thanks
Evelyne
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#14 of 36 Old 05-24-2011, 10:16 AM
 
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Omg!!!! Finally ...Someone who I can relate to!!! My son has 2q32 syndrome...more specifically, 2q(32.3-33.2). My son just turned 6 years old on May 16 smile.gif. I have been writing to unique ( his picture is the one used for the leaflet on 2q 32 syndrome) I've written to the author of the medical journal who did the study on the 4 patients, and I've been to 2 genetics Dr's. No one was able to give me any answers on what to expect. So here's what I can tell u... My son was born 7lbs 4 oz, cleft of the soft palate and bilateral clubbed feet. He had the haberman bottle and gained weight fine til he got the Rota Virus when he was 1y6m and lost 20 percent of his weight. He's been under weight/height ever since. He had his cleft palate repaired at 1y 8m and his clubbed feet surgery at 2 years. He started walking after his foot surgery and still every once in a while limps when he runs.

Current time: DS was diagnosed by the public school system as intellectualy disabled last year. We live in Miami, Fl. And the public school system for ese here is garbage. So, DH and I decided to pay for a special education private school. Since starting ther last year, he's made incredible advances. My son had poor oral motor control and drooled, and he's stopped doing that since starting the new school. He had no speech or even sounds...and now he says mama and papa and makes conversations (using sounds like words) and tries to communicate. He is FINALLY potty trained!!! He uses some sign language like "more" and "me" and "pipi". If I regret anything, its not starting sign earlier. Its a great tool for communication, especially since he gets really frustrated when he can't communicate what he want/needs.

I'm sure I will be posting more as it comes to me. I'm excited to here about ur experiences and to see if they have the same deletion or not. Hipe to hear from u soon...smile.gif
Thanks
Evelyne
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#15 of 36 Old 07-28-2012, 10:11 AM
 
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Hi,  I have a 13 year old daughter with this deletion 2q(32.3-33.2).   If you would like any info.  on this deletion we have a bit and I can let you know how our daughter is doing.

 

 

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#16 of 36 Old 07-29-2012, 07:50 PM
 
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Hi! I would love to know more about ur daughter smile.gif my son has the same deletion
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#17 of 36 Old 07-30-2012, 04:48 PM
 
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If you have facebook I have an account there.   If you friend me,  I can give you more info. and I have pictures of her there.

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#18 of 36 Old 07-30-2012, 07:08 PM
 
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Im way ahead of u! Sent u a friend request yesterday.
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#19 of 36 Old 07-31-2012, 10:45 AM
 
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Hasn't came thru yet on facebook.   What is your name and I will send you a friend request?

 

Deb

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#20 of 36 Old 07-31-2012, 03:04 PM
 
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Would live to hear more about your 13 year old daughter! My daughter is 7 with 2q32-2q33.1 deletion.
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#21 of 36 Old 07-31-2012, 05:10 PM
 
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If you have facebook,  you can friend me and I can give you some more info.  My name is Deb Oke.   If you don't have it if you send me your e-mail address I can give you my phone number and you can give me a call sometime.  Our daughter is 13 years old and will be 14 on Sept. 30.   She is non-verbal,   wears glasses and has some behaviours.   Just last year she had spinal surgery,  she had scoliosis and had rods put in her back. To communicate she uses sign language, PECS and an electronic device called a  tellus smart.   She knows how to use a computer, ipad and recognizes many words.   We don't really know how many words she recognizes but there are alot.  This year she will be going into highschool with full support as she has no safety skills, likes to pull hair and grab people, and is still not toilet trained.   We are trying to time train her but she will probably always need to wear pull-ups.

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#22 of 36 Old 07-31-2012, 06:47 PM
 
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Evelyne Vega from Miami
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#23 of 36 Old 07-31-2012, 06:59 PM
 
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My son was diagnosed last year with mild scoliosis, but 6 months later ortho said it was not seen on xray. Brandon knows how to navigate smart phones pretty easily... He goes on netflix, and YouTube to preset channels. He takes videos and pictures and somehow posts them lol. He's been potty trained now for 2 years (he's 7). As far as behavior problems, he sometimes has tantrums at stores if he sees a toy he wants and doesn't get it. Also, lately he just doesn't want to go to school. He has tantrums there too, and it breaks my heart. He goes to a private school that specialises in ese. I'd love to see the similarity in the two, my friend Jen ^^ daughter, who also has the syndrome, looks Sooo similar to brandon, they can almost pass as family smile.gif hope to hear from u soon!
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#24 of 36 Old 08-13-2012, 04:29 PM
 
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Hello!

 

I can visually see scoliosis in Lauren as well (but it does run in our family, both sides) - never been looked at seriously by doc.  Lauren and Brandon DO look very similar.  Lauren (now 7) has some behavior issues, mainly with lack of patience and over attentive to her baby sister (but she's loving, it's just a space invasion and unwelcome after a while).  Tantrums are regular, but her cognitive learning from the situation really lacks.  She struggles with general viruses all winter (out of school 32 days last year).  Just had eye surgery on both eyes for strabismus this spring.  We also put her under this spring for cavity fillings in between all molars.  She had an abscess last fall - so I got aggressive and didn't want to wait for it to be a problem again given that she doesn't tolerate xrays.  She is no where near potty training.  Lauren has a sign for "more" and perhaps "shoe" (mimicking me).  Her receptive language is better - but still grossly impaired.  Depending on the doc - she tests between 12-20 months old cognitively.  We have a 2.5 year old as well - which really made comparing this result accurate.  I would say Lauren maxed out between 18-20 months for sure.  Her gross motor skills are her strength.  She's scrappy, fast and has a high pain tolerance.  :-)  From my detailed conversations with Evelyn - Brandon seems farther along cognitively.  Lauren could not figure out a phone, remote, etc. She pays zero attention to electronics.  She is a smiley - routine oriented child.  She loves the outdoors, hikes, pounding her feet.  Boredom is hard for her.  I worry about the long term, housing, puberty, how to manage behavior issues as she grows, managing her in public settings when she acts out (I can currently pick her up and lug her off, which works great now, but it won't last forever...)

 

Fun to compare notes!  So glad I found you!

 

Jen Schulte 

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#25 of 36 Old 01-14-2013, 02:58 AM
 
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hi we would love to hear more about 2q32 & 2q33 micro deletion chromosome as my grandaughter was diagnised only about 2 years ago, she is now 8 years old , the doctors didnt know what was wrong with her for 6 years and they kept saying its only failure to thrive which was not much of a help to all of us, finally when we found out what the problem is, again they said there isnt enough knowledge what the future holds for her as she is the only one in australia, we have been hoping to hear from someone around the world with the same problem and to let us know more , so please if you have any more information we would love to hear from you, i will be happy to chat with anyone on fb with the same problem or similar. her name is electra, she is absolutely gorgeous, very happy, she goes to school and she is in special needs classes. she is only 16kgs her height is ok not normal for 8 year old, she is still in nappies, she only says few words and knows few sign language words, the does get frusturated at times especially when we dont understand what she wants, sleeping no problems, she loves her i pad and computer, but she gets bored very quick, if anyone interested i will be more than happy to give more information about our gorgeous electra.

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#26 of 36 Old 01-14-2013, 10:20 PM
 
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Hello!  FB me and we'll connect.  My daughter is 7 1/2 years old with the same deletion.  She is also still in diapers.  Her only words are "alllll done".  She is able to sign more when HIGHLY motivated.  She is cognitively about 18-20 months old.  She is soooo skinny, small for height.  Last measured at 35 pounds.  My email is jenniferschulte@me.com if you want to have more detailed info.  I love her so much and can really appreciate your searching.  I look forward to connecting.

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#27 of 36 Old 01-15-2013, 09:12 PM
 
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hi , i m so so glad to hear from you, yeah i would love to have a chat with you, my email address is : peter.desa@hotmail.com also i am on fb.... you can find me under desa tod you can send me a friend request and i would be more than happy to accept you. would you be able to let me know where are you from? we are from wollongong nsw australia.
 

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#28 of 36 Old 01-16-2013, 11:57 AM
 
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okay - will do!  we live in California, USA.  Our daughter's deletion is 2q32-2q33.1.  Have you looked up Unique - the rare chromosome registry in London?  They have a fantastic brochure on this particular deletion.  They have a 7/8 page version and there is a draft 30+ page version (not sure if that is up on the website).  The longer version is a compilation of surveys filled out by registered families.  Provides some nice anecdotal information as well as genetics based info.  The organization also provides a list of registered families (who have released their info) with the same deletion.  I'll friend you on FB as well.  

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#29 of 36 Old 01-16-2013, 02:25 PM
 
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hi, thank you so much for replaying back, this means the world to us, yes we have read all the information on uniq and the genetic doctor gave us a panphlet to read, but electra doesnt seem to fit in most of the categories, her features are normal etc. we will talk more on email or fb. looking forward chatting with you. have a great day. thanks again.

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#30 of 36 Old 01-19-2013, 07:53 PM
 
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hi there how are you, i just read about your son and i would like to let you know that my 8 year old granddaughter has the same problem, if you are interested you can contact me on fb under desa tod also my email is peter.desa@hotmail.com, we live in australia and my grandaughter is the only one diagnosed with this condition which makes it very hard because we are not getting any answers from the doctors as they dont know much about it. hope to hear from you. lots of love and kisses to your son.

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