Hi, I'm wondering how a 12q12 deletion will change my son's life? He is 14 months and still unable to walk/crawl/balance/talk etc. His weight is also below the charts. Any advice/experiences would be appreciated. Thanks

Hi, my son is 11months and has the same issues as yours. his diagnosis is 12q21.2q21.31, what is your sons? i have found very little info on this disorder. from what i have researched there are only about 15 cases. feel free to message me and we can compare how our kids are. im trying to connect with other parents going through the same thing so i know what to expect, thanks!

Hello. My son, Hayden, has a deletion at 12q12 (37,840,869-41,270,251). The genes that have been deleted (11 total) are KIF21A, ABCD2, SLC2A13, LRRK2, CNTN1, PDZRN4, GLT8D3, YAF2, ZCRB1, PPHLN1, and PRICKLE1.Hayden is a special case though because he also has a deletion at 4q21.22q21.23 consisting of 15 genes. He is now 8 months old and has feeding issues, hypotonia, is not rolling, sitting, etc. he weighs 16 pounds and is 25 inches long. He just made it to the 1st %ile! Hayden was found to be aspirating at 2 weeks old and at 4 weeks had g-tube and funduplication surgery. He has small hands and feet, microphalus (small penis), and "dysmorphic features" according to docs, but we and a him thinks he is beautiful.:) we do feeding therapy once a week, physical therapy starting in 2 weeks. He is overall very healthy. He has pulmonary stenosis, but it's very mild, don't have to see cardio for a year. He also has Kallman's syndrome which means he is lacking the hormones LH and,FSH which assist in puberty and baby making. He is completely deaf in his left ear. Let's see...i think that's all...sometimes I forget all the crap he is dealing with ;) my email address is rachelhockett@gmail.com if u would like to email me. Blessings to you all. So happy to have found you.

Hi, Thanks for your replies. Rachel, it sounds like you have had a rough time. I don't have the exact details with me and will update you with the 12q12 deletion when I get home. Unfortunately we are facing a 6 month wait to see the geneticist and while my husband and I have been tested, we do not yet have those results so are not yet sure whether we would pass it on to any future children. Our son now weighs 19 pounds at 15 months. He was born with an undescended testicle which was corrected with surgery at 7.5 months. He did not sit until 9.5 months and has only recently started rolling onto his stomach. He cannot get up onto all fours nor pull himself up or transition into any position as he has hypotonia in his core and upper body. He overextends his movements, often stiffening which stops him from being able to do many of the things other children can do. We have been seeing a physio for four months and have just started seeing a speech pathologist as he is not saying any words, nor doing any of the non-verbal communication (pointing, waving etc). He has a MRI scheduled in 5 weeks. He was a very unsettled baby and would scream for up to 14 hours a day. This seemed to improve once he started solids. He is now a very happy baby, besides when it is time for physio! We are seeing gradual improvement, however can't see him crawling or walking for at least several months. I would not assume each baby will show the same symptoms/progress and I'm assuming that once we see the geneticist we may still have very few answers. Do either of you have any other children? Keep me posted on how you and you children are going. Thanks again for sharing.

My son's deletion is in molecular karyotype 12q12(38,867,141-39,195,281)x1. That's all I know at this stage. Hopefully the geneticist can provide a bit more information in December. At the moment our focus in on physio to help get him moving and speech pathology to help him communicate.

I have a son named Jason who will be 1year old on September 4th, he has a very similar deletion his is a deletion at 12q21.2-21.31 .my son has a list of problems so far..and only time will tell if he will have behavioral problems or other things. he was born with dydmorphic facial features, undescended testies and a inguinal hernia and will be having surgery to correct it in 2 weeks. he has global developmental delay, hypotonia, torticollis in his neck, umbilical hernia, sparse hair, curved spine(not sure how severe, we are waiting to see a specialist) , GERD's(severe acid reflux). i think thats it so far. he goes to OT and PT therapy 4times a week and has made a major improvements! once he hit 10months he learned to rollover, sprouted 2 teeth, started babbling mama, dada,baba. has been very hyper senstitive to touch and textures, and does not like to bear weight on his feet.As of a week ago he just started to want to stand while supporting his weight under arms, still not able to sit independently, but is very close. no crawling yet either, also is still bottle fed, no g-tube as of now, but we have major feeding difficulties and have to thicken all of his bottles of formula. introducing spoon feeding, but he chokes and gags easily and refuses to eat. ..he weighs 19lbs @11 1/2 months and is tall for his age...is steadily gaining weight even though he was born a preemie at 33weeks gestational age.

Happy birthday Jason! It sounds like life is a bit of a battle. Facing the unknown can be difficult. Do you know if its genetic? My husband and I are considering a second child but are still waiting for genetic advice. How long has Jason been seeing the OT and PT? I am seeing improvements with my son (now 20lbs at 15 months) as he is starting to develop muscle. He can now move himself around in a circle and balance on his knees, which is encouraging. The interesting this is that family and friends say to me 'I guess you don't see the improvement as you are with him every day' but its actually the opposite, every small achievement is newsworthy. As for people telling me I need to encourage him to crawl, well I won't mention what I think of them! Teeth didn't appear until 11 months, now he has 8, with another 2 on their way! May I ask if Jason was induced or did you go into early labour? My son was full term, induced and then emergency caesarean. We are told not to compare children, but its only natural and its how we identify the problem to begin with. I would have ideally began treatment earlier, and now feel as though I should be making up for lost time. Unfortunately I'm back at work which is making me feel guilty, but it is nice to have a break. All the best with the surgery. Try not to focus on all the problems, but rather his achievements. I struggle when I see my friends 6 month old with the ability to move across the room but I try to remember the improvements he has made in the last few weeks/months. Nicholas is now starting to wave and point. It may not always be at the right time, but he is improving by the day. My hope is that he can crawl by 18 months and walk by 2 years. We are working hard each day to encourage further development. Not sure what the future holds but hoping for a bright and happy one!

Thank you for the bday wishes! and yes, hopefully all goes well with his surgery, at least its an outpatient surgery..this has been the longest year of my life and i have had to learn not to compare Jason to my older son Sean, but like you said it is difficult and especially when they were both born preemies. I went into early labor with Sean and they were unable to stop the contractions with medicine and my water broke and they had to deliver him naturally. i was 33weeks preggo with him when this happened. with my baby Jason i was also 33weeks preggo, but i had started bleeding heavily 2weeks prior, was in the hospital for a day until it stopped and was sent home. another week went by and the bleeding started again but worse. i passed blood clots and was taken to the emergency room where they monitored me for a day and the babies heart rate dropped so they had to do an emergency c-section. Sean was delayed physically but eventually met all his milestones about 2months late for each one.. so when we had Jason we had an idea of what to expect and yes we did compare him to Sean, how could not? so i noticed he wasnt just "delayed for a preemie" he wasnt meeting any milestones until he hit 10months. and i think his physical therapy that he started at 9months is why he finally started to rollover and babble. it really helped him socialize and gain strength. and since then he has picked up so many new things. its very encouraging to see his progress. and i agree with you that as a parent u do notice every little improvement and its a huge deal to me! the day he started to babble i broke down and cried, i was starting to think i would never hear his voice. i have alot of close friends who were all preggo the same time as me and its very hard not to compare their kids to Jason, and to not get sad. once in awhile it does get to me and i feel bad for him that he is not able to crawl and walk to where he wants to go or hold his own bottle when hes hungry or eat baby food yet.. its hard sometimes..but i definitely do try my best to focus on the positives and i am very encouraged when i see him do something new. thank you for your encouragement it means alot. i just like to see what things our kids have in common as far as their behavior and health.. its hard to handle this when there is soo little information on it. i also like you, have mental goals that i hope jason learns to eat baby food within the next 2 months or so, crawl in a few months, and walk by 2.. he just started to bear weight on his legs and likes to stand with me holding him under the arms or hold his hands above his head while we try to show him how to take steps.. i know its a long road ahead but we take it day by day right now and that helps. to answer your other question, we dont know yet if this disorder came from either myself of my husband or if he has it by himself.. we should get our blood results within the next week or 2 at the most. ill update you when we find out. and he just started OT about 3weeks ago, the PT about 3months ago. thats great your son is showing improvement with the therapy! its the best feeling to see results and know your doing something right. dont feel bad that you are working and not able to spend as much time with him, every little bit you do with him makes a huge difference even if you dont see it right away. even a half hour or 1hr a day with him helps tremendously! i understand your concerns for having another child. it is very intimidating, especially when you dont have a for sure answer if your next one will have this disorder. but def look into it with the genetic counselor and do an amniostentisis to findout early if there is something wrong so you can prepare yourself. i have the same guilt about not knowing this whole time that something was wrong..i fought the doctors to do testing and kept pushing for answers.. parents always know their child better than the docs.. i wish therapy could have been started way sooner, i feel sometimes like maybe he would have been walking by now.. but what can you do? now is better than never..keep pushing forward and dont give up or be discouraged on having another child. we have thought about it, and at this point we have 2 kids and have our hands full at the moment..so for now we decided not to have anymore. but who knows what the future holds. :) thanks so much for chatting its been a big help having some support from someone who understands what i ma going through..and our kids our so close in age! what state do you live in? we are in orange county, california.. hope to talk to you soon.

Wow - you just made me cry! I've spent the day ringing around, trying to chase up our genetic results. Its 6 weeks today since we got our son's results and I have googled far too much! I don't think I'm any closer to finding out results but during that time I have seen significant improvement. Hearing the problems Jason has faced makes me feel lucky. Nicholas has never had feeding problems, although it is believed he may have had undiagonosed silent reflux. Nicholas only required one testicle to be corrected. He recovered really well and we have had no problems. He will be having anaesthetic again in 2 weeks for his MRI. I'm more confident it will come back clear (fingers crossed) We are in Australia, so a bit of a distance away! Feel free to email me at kdega1@yahoo.com.au I'm not sure how much help I can be, but we can share progress updates. Enjoy your little man's 1st birthday. My thoughts are with you for the coming weeks.

Hi, I've just found out this deletion is genetic, as my husband has the same deletion but has shown no symptoms. I'm wondering if anyone has a similar experience?

@kdega1, my husband and I are going to a doctor appt tomorrow actually, to get our blood results for that as well. so i will write to you and let you know what they tell us. I wonder if it will be the same results for us as well.

we received our results and it is "de novo" so it didnt come from myself or my husband.

thats great news. Its interesing to know how these things happen. How is Jason going?

Hi! Jason is 13 months now, weighs 19lbs 11oz. his surgery to correct his undescended testies and hernia went great. he was healing really well for 3 weeks, and since last week his incision is opening up and bleeding. hes on antibiotics right now so hopefully that will fix it. we have been having major feeding difficulties with him for the last 2 months and after his surgery, he went downhill quick. we ended up taking him to the ER for dehydration, and were admitted to the hospital for a total of 10days. while there, they decided to go ahead and have a G-tube put in, and a fundoplication surgery to fix his acid reflux. it was quite a scary ordeal to have these major surgeries within 1 week. that surgery went great as well, and he is healing still. the only thing that has made me sad is that he had just begun to roll over so well, and now that he has the G-tube he stopped. i have only seen him roll over once since surgery, i guess since its still causing him pain. hes back in physical therapy and occupational therapy, so hopefully they will be able to help him get back on track. aside from that, i am very encouraged by his progress. he is now sitting by himself pretty good! he can last about 10-30minutes without falling backwards depending on what kind of surface hes sitting on. this makes me so happy to see him improving in different ways since hes not rolling over anymore. its looking more like at 2yres old hopefully he will be able to walk by then...about 6months ago i used to think he would be walking at age 1...but i guess that's just one of those things we have to sit back and accept that its going to take him longer to learn these things even with the therapy and myself working with him at home. i was wondering how old your baby is now and if he is crawling, sitting, etc ..or any progress? i hope you are all doing great! also, i know i told you how Jason has "dysmorphic facial features" although to me he looks normal, does your son have this too? if so im curious to see photos so we can compare and see if our kids share a resemblance to each other. i think by themselves, each kids looks normal, but when you put them together in a group they all share a similar look. it feels so good to have connected with you, even though you live so far. its a scary feeling to have a child with something so rare and no information about it. please email me anytime, i would love to exchange progress, and photos of our children :) my email is wazzuplizard@yahoo.com

Hi, We are still experiencing lots of delays, but I'd like to announce that my son has started crawling. Only about 1-3 metres and only from sitting (once his legs got down he is down) but hey its a start. I'm so proud. The progress is slow but its amazing to see results. All the best to everyone! P.S. he is almost 18 months

hi everyone, i have 2 daughters and 1 son with chromosome 12q long arm deletion and it has effected the children differntly, the girls have low muscle tone, speach delay,posture, balance, where as my son the main concern is his speach. the girls are under physio and have to wear peidro boots for stability. It is a generic tranfer as i have exactly the same disorder.

@mumy7- wow what a journey you have been on. I would love to learn more from you if you dont mind sharing. This is all new to me we have only known about my sons case since August. Can you please tell me more health problems your children or yourself have had? Im curious if wr have any problems in common. Alsowhere are you guys from? We are in the United States in California, ive only connected with one family on this website but they are from Australia. Im still hoping to meet someone who loves closer. If you read the past posts you can see all of my sons symptoms and what we have gone through so far. Hes currently 16 months and still 19 1/2 lbs. email me anytime my name is Liz :) wazzuplizard@ yahoo.com

Hi im from England, all three of us have problems with our lower joints from the hips down also speach delay,we knew something was wrong with my 4 year old before her 7-9 month check because she was so floppy and wasnt sitting up or rolling over. She hated being on her belly on the floor and she would just point to things and wait for one of her older siblings to give it her.then she got referred to a childrens clinic to see why so she had this new test on her genes and they found out that she had this chromosome 12q long arm deletion, so my husband and i had to have the blood test and we found out that i had this problem,my 4 year old attends nursery and she falls alot but she copes and she has calpol 3 times a day due to her ankles hurting as she has small feet. her sister my 1 year old has got this problem only she wants to get walking and moving around and finds it very difficult as her joints would just collapes from under her so she has to wear peidro boots aswell both girls have small feet and are small in height.My mum passed it on to me then i passed it down to 3 of my youngest but my other 4 children i dont know about yet as they dont want to test them yet as they are young. dont worry about your sons weight,i was 4 stone throughout my time in primary school then started to put on weight. you are the first family that i have talked to on here as i am new to this sight . i would love to keep in contact with you my name is rebecca and please feel free to email me on rebeccapownall@ymail.com anytime like you i would like to know someone who is nearer but i wounder if its that rare how many people have got it without knowing they had it.:-)

Hi Rebecca, Thanks for responding. Any tips and advice you can provide would be very much appreciated. To go through it so many times must be draining. Did I see you have 7 kids? You are one very brave woman! We are the only recorded case in Australia and the genetic counceller we saw seems to think it is now what's causing my son's problems as my husband has the same deletion. I have not been convinced and find is frustrating that it has been disregarded so easily. As there is no information available, we are flying blind. Can you tell us when wour children started walking/talking and any tips you have to encourage this? I'm also keen to know how it has impacted their lives? My son is 20 months old, just under 22 pounds, cannot pull to stand and does not say any words. He has only just began pointing and really just whinges to communicate. He attends physio, speech and ot, however we had our last physio this morning as she is leaving and we need to wait to be allocated someone else. What advice have you (and Liz) been given from your doctors? As we have been told by the geneticist it is unlikely to have caused our son's problems our son is still subject to investigations which is not fun for any of us. We are also hoping to have another child soon but because this condition is not recognised feel we may face the same problems we have faced with our first. Thanks for sharing your story.

i know how you feel as i got told not to worry about this condiotion by the genetics dr as i have it but i dont see it like that, chromosome 12q longarm deletion is probaly what is the cause of your sons development delay, my duaghter who is 4 didnt want to do anything until she was about 3 she was put on a walking frame, peidro boots at first, speach therepy and ot, she does not use a walking frame now and she stil sees the pysio and speech theripist in school but she still has problems doing certain things like a normal child like jumping,hoping going up and downstairs,putting clothes on , my 1 year old daughter has a play worker aswell as the speech theripist,and physio but basically she is walking round the furniture now, doing bear walking where she sticks her bum in the air and walk with their hands and feet but she has little strength in her lower joints she has got tendancy to fall. all i can say is encouage your son but let him do it in his time no one elses as that is what i do, also my children since they started getting their baby teeth through seem to crack on with talking and doing other things lol. your son will one day walk in his time dont put him in a sit down walker as that would make him worse just let him on the floor and play thats all i do and if you go out of the room and watch what he does from somewhere he cant see you he might just surprise you. you are more than welcome to email me on the email address on my last post.Rebecca and yes i do have 7 children lol

if anyone has other children or friends with childrren that are slightly older that helps to encourage them.

Hi Rebecca, I think Liz and I want to to sit you down and ask you what the magical solution it! I know we can't compare kids as this condition does seem to impact everyone differently. I'm assuming everyone has very little information on what to expect but was hoping we might be able to collate information especially on what things that seem to help the kids. When something seems to hard, my son cries and I probably give into him too much. For example, my son doesn't hold his bottle cup for too long before he lets it go. I feel his muscles may be hurting and end up being the sucker that lays down with him each time he needs a drink. As he is a skinny child, I want him to eat/drink as much as possible. How much do I push him and how much do i accept he needs more help than other children? He does attend childcare 3 days per week with children who are able to do much more than him. He is the only one who can't walk and I see him play on his own more than the bigger children. I'm not sure what's normal for a 20 month old as he is my 1st but do think he may be delayed slightly on social skills as well. Rebecca, just wondering if any of your children had feeding issues? Rachel and Liz's boys have had feeding issues but my son breastfed quite well. He took a long time to feed (90 minutes per feed) but with practice we had good attachment. Just wondering if any other medical issues have become known. Early googling led me to see similar problems related to heart and kidney problems along with cancer. I'm not sure how relevant these articles were as they were one off peices and don't want to scare anyone but think we are best to be aware of anything we may need to look for. So far what I imagine is the problems with these conditions can be worked on with therapy and the kids should be able to lead close to normal lives. Also Rebecca, you say you have this condition, as does my husband who has shown no obvious symptoms. Is that the same for yourself? Also you have mentioned that not all your kids have been tested so does that mean there is a possibilty your 4 healthy kids may also have the condition? Sorry about all the questions. I was going to email you but thought your answers may help others in the future. Thansk everyone for your contributions.

hi my 4 year old when she was bottle feeding she didnt hold her bottle for a while she soon got the hang of it as i put the bottle on her blanket and put the bottle in her mouth and when she reached a certain level in her bottle she was able to hold it,she also leans backwards when standing,she still gets frustrated when she can not do things and crys i just encourage her to keep trying, my 1 year old does not bother about her bottle as i give her a small bottle and she prefers to finger feed but does try to use a spoon.in answer to your question about my so called healthy children, my eldest child who is 11 years has got asthma and might have a mental issue and flat feet. my 10 year old son has got behavier problams in school and at home, he has got knocking knees and flat feet,my 7 year old seems to be above average in school but her knees and and ankles do tend to go on her quite alot,i dont know about my 6 month old son seems to be doing fine.but they wont test them unfortunatly as my two oldest sons did have speach problems when they were younger, about me when i was younger i had speach therepy and that was all, but i kept complaining about my joints hurting all i got was its growing pains,28 years old i found out i had this chromosome deletion and found out that much of my issues are rielated to the condition, like my 4 year old i find it hard to stand up straight as i lean back,i find bending a problem,all my joints click and i suffer with migrains.they are not testing to see if anything else is causing our problems since we got the diagnosis of chromosome 12qdeletion. i think its a shame that we can not all meet up and discuss the situation as we would all benefit from it, i have not found another family in england with the same problem .

hi if anyone wants to add me on facebook im rebecca pownall thanks.

Hello all my son mason has hypoplastic left heart and microdeletion 12q 13.2-14.3 , he is 2 in march and has just started to. Rawl on all fours n so is into evryhing, he is 11kg in weight only says dadadad at the moment but apart from his milk he is begining to eat wotsits. We know he is missin 53 genes but dont know which ones are missin at the mo, waiting genetics. Shld u wish to buddy me thn feel free my email address is paul-j-williams@hotmail.co.uk. Tke care love mel xx

hi Tinx36 its good that your son has started to eat wotsits, all of us are also on facebook if you have it your more than welcome to join us there is a page for chromosome 12q deletion also if you want to add me as a friend im rebecca pownall. it sounds like your son is doing great, my 4 year old didnt crawl she bum shuffled and didnt want to do anything.i am also in the uk.

Hi Mel, Sounds familiar. My son starting crawling at almost 18 months and his life became so much more interesting. That was after 6 months of physio. He has physio, speech and OT. He is also not talking but has started pointing and shaking his head. He is 10kg and on the short side. If you have facebook add us! Its great to share stories and experiences. I hope Mason is well and you have lots of support.

Thnx guys, When i get chance i will add u on facebook altho i dnt go on very often. Mason today wouldnt tke bottles and was gaggin, we put ng back down but after any feed still vomiting, also has temp, only come out hospital thurs :( we are goin to c how he goes tonite n get nurse out tomorrow hey ho xx hope we dnt go bk in !!

hi Tinx there is a sickness bug going around as my 4 year old got it last friday and didnt start eating till yesterday, instead of milk try him with sugar water and see if he can keep that down. hope he gets better soon

Cheers mumy7 Turns out was a bug, in a bug lol Had dioralyte ok now. Must go duty calls Love mel x

good to here hun but we cant be to careful thease days as you dont know how many bugs/infections are out there. love rebecca

Hi, my son is nOw 4 and has autism and has recently been diagnosed with 12q 21.31 deletion. He has a very limited vocabulary and rarely talks.. HE only uses small se trances to get his needs met. He has frequent meltdowns and is very active all the time,he also suffers from gord and is medicated pending a gastroscapy. He is still in nappies and has cognitive delay, am very glad I found this group as I have no answers yet for my son and his health.. It makes me feel better to know I am not alone :-)

hi claire welcome to the group and if you are on facebook we are on there hun chromosome 12q deletion

Thanx mumy7, am looking for the page on Facebook but can't seem to find it. :-/

hi Claireatsmiles! i started the facebook page Chromosome 12q Deletion and now a group called the same thing so we can start documents on our kids and write down their milestones and deletions so we can compare. or add me on facebook Elizabeth Anderson, im in california , USA i think we have about 13families with 12q now,you can also email me at wazzuplizard@yahoo.com

hello peeps, Mason was 2 last week and has climbed up the stairs to the top!!! Was quite a bit out of breath due to his hypoplas but was so proud of himself almost felt cruel bringing him back down. We have an appointment end of april to see if he can have special boots to help his feet. He does babble mommommom now which id quite uplifting, Oh dear Mason crying again be back with another update soon, hope this finds you all well xx /Happy Easter evryone shld i not get bk on for a while byeee love mel xxx

Thats brill, Happy Easter everyone, just a quick update my two little girls are still having physio and still have to wear piedro boots and will carry on wearing them until their ankles get stronger. Now it looks like my 9 month old son has breathing problems so he is at doctors tomorrow. I'm glad to see that although it takes a while for our children to do things, when they do something we can celebrate it and i would rather wait then rush our kids. love rebecca xx

happy easter to you all! Tinx36 im trying to find you on facebook so you can add our group i know ou said your not on facebook that often but honestly it has been the biggest help being able to talk to all the 12q deletion families and ask question, huge support system for me:)

I haven't been here since Liz started the facebook group. The group is a great support. Just to update, my now 2 year old can say about 10 words, although many of them would not be understood by anyone besides his mother! He can walk if you hold one of his hands, but is still not confident enough to balance to stand on his own. He has started using a spoon, but is very messy. He has an autism assessment on the 16th and will see the orthopedic specialist on the 23rd. I hope everyone is going well - take care.

Hi my name is moniquea and I have two amazing boys one who is 2 and another is is 11 months and my oldest son name is Jason and was born with a 12q deletion with his numbers being 12q13.3q14.1. My son was born at 35 weeks weighing 5lbs 3.2oz was in the NICU for a whole month, born with a bilateral cleft lip and palate, heart murmur (that just now closed), feeding issues due to his cleft so he has a G-Tube (which he is still on), wears glasses, has a AVD (that will not fix it self and needs to be surgically closed), had sever acid reflex but he does not have it as bad as it was, developmental issues he just has now learned how to some what sit up on his own at age 2, is wanting to bare weight on his feet, looks like he is a 8 month old baby, weights 18lbs, has weight issues. I hope these genetic doctors find out more information for us families that are going through these issues like we are.

Hello evryone, well mason 3 on 22/3 his has his third new pair of piedro boots today and walks a bit wobbly holding hand or holding onto furniture. He tends to drag right foot a little. Since sept he has started the orchard school in nursery mornings its a sen school. Fantastic!!!!! Although very tired when he comes home. Only on bottles frutini still not interested in food but gaining weight. He weighs 12kg but still a little tot. As for speech can say mommommom, dadadadad, aide ( sadie lol) so getting there. At school they say he does walk beta with frame but like evrything they are still waiting for his, in the process of chasing up. Touch wood after the horrible scare xmas 2011 he hasnt been in hospital poorly. As for facebook still not on but look for paul and melodie williams or melodie and paul williams cant remember which way. Hope evryone else is doin ok tke care love mel x

Hi, Congratulations your achievements. Its a long and difficult road. Our facebook group is growing and while I wish none of our kids had these issues the support has been amazing. Most kids have muscle tone issues but do eventually get there so have hope. My almost 3 year old started walking at 28 months and is now running and climbing on everything. I do have to admit while its tough I really appreciate every milestone. I also have a 6 month old who appears to have some delays too so may be facing the same long road ahead. My advice is to fight for therapy as it really does help, however, know it is a though road and realise that its ok if you can't do therapy every day. Love your child and encourage every little step. If you are faced with negativity be strong and stand for what you believe in. Also feel free to email me kdega1@yahoo.com.au

@claireatsmiles, tinx36, and monique- we have a facebook group called "Chromosome 12q Deletion" and have about 30families with kids who have this disorder i would love to have you all join! Or look me up Elizabeth Anderson, we are in california, united states my 2 1/2 yr old jason has 12q21.2q21.31 and Kirrilly is in our group as well as a few other ladies from this site. Email me anytime as well @ wazzuplizard@yahoo.com hope to talk to you all soon!!!