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

[Deb Oke]

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.

[brantoneve]

Evelyne Vega from Miami

[brantoneve]

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 hope to hear from u soon!

[JSchulte3]

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 

[Desa Tod]

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.

[JSchulte3]

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 [e-mail] if you want to have more detailed info.  I love her so much and can really appreciate your searching.  I look forward to connecting.

[Desa Tod]

hi , i m so so glad to hear from you, yeah i would love to have a chat with you, my email address is : [e-mail] 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.
 

[JSchulte3]

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.  

[Desa Tod]

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.

[Desa Tod]

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 [e-mail], 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.

[unique08]

Hey you all long time no see x) i have now a facebook page called "2q32-2q33 microdeletion " for all of us ho have a child friend or other fam. Members ho have a rare syndrom and you can find me on facebook Camilla Pettersen from norway i made this facebook page becose of my son <3 and im tierd of not have any to talk with about his syndrom ... I hope to see you all on my facebook page xoxo

[Legends Mom]

Hello my son has a microdeletion on 2q31 & 2q32. I welcome you to visit my blog at http://legendsmom.wordpress.com. Its a work in progress; however I'm excited to meet all the parents and kids :)

[Legends Mom]

Hello my son has a microdeletion on 2q31 & 2q32. I welcome you to visit my blog at http://legendsmom.wordpress.com. Its a work in progress; however I'm excited to meet all the parents and kids :)
 

[Desa Tod]

hi i am so happy to chat with you, we have a grandaughter that has a 2q32&2q33 microdeletion chromosome syndrome, she is 8 1/2 years old, you can contact me on my e mail address [e-mail] also i am no fb ...    desa tod .  Hope to hear from you asap.