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

[bananapancakes]

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.           

[Jack*and*Kate]

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...

[askew]

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. 

[bananapancakes]

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.

[davidah]

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

[unique08]

Hey

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.

[unique08]

Hello

 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 

[e-mail]

Norway 

[bananapancakes]

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.

[unique08]

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 <3 

[bananapancakes]

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!

[muldey]

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.

[cleencalaid]

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! 

Edited by cleencalaid - 4/24/11 at 10:20pm

[brantoneve]

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 . 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...
Thanks
Evelyne

[brantoneve]

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 . 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...
Thanks
Evelyne