I have a 22 year old daughter with 4q32 deletion. When she was diagnosed (shortly after birth) there was no syndrome for this and little information. I'm looking for others with the same or similar deletions.

Hi Christine, I have a son with 4Q31 deletion. He is now 28 years old. I was also told when he was born, that there were no other known cases like him living and there was no more than a paragraph in medical books that they could find on that particular deletion. I can tell you that there is not too much more available now. Most of our information learned on my son have been from living with him day to day because no one else has much info to offer. I would be glad to answer any questions you have. I'm not sure how much similarities there are between 31Q and 32Q deletion. It certainly seems like they would be very close. But certainly we can compare. Sherry

Hi, Christine and Sherry - I'm a pediatric physical therapist, and I'm working for a short time with a child that I just learned has a diagnosis of 4q32 deletion. I had worked briefly with another child with the same diagnosis, and both times, I've been unable to find any information, at least in the easily accessible web world. (I haven't yet tried looking in the medical literature.) The child I'm working with is very functional, but has low tone and core muscle weakness. If either of you have any observations that you would be willing to share from your own experiences, I would be most grateful. Thank you very much, Kate

Hi Sherry and Kate, My daughter was born 3 weeks overdue and weighed 8 lbs. 10 oz. She was diagnosed shortly after birth with her 4q32 deletion. She had a couple of characteristics that prompted the testing. She had a heart murmer that turned out to be an ASD. This was repaired when she turned 3. She also has a pointed baby finger on her left hand that has a malformed nail on the top. She has low muscle tone and began physical and occupational therapy at about 6 months.We also put her into a preschool at our local children's hospital for kids with motor disabilities when she was 2.She received extra therapy there and worked on socialization. She stayed in that program through the age of 4 and then spent a year in the regular local preschool. As she has grown we have discovered that she has wide flat feet and her knees sit higher (patella alta) and tend to pop out of the socket occasionally. When she was about 10 we discovered that she has calcium deposits behind her eyes. Originally the opthamologist believed she had a turmor, but that was not the case. Honestly, I can't remember the name of it off hand, but so far she has had no problems from that. Other than that, we are very fortunate that she has not had other physical problems. She was off the charts small until we had her ASD repaired. Our daughter has mild learning disabilities. She tests at about a 5th grade level for reading, but she reads a lot and understands everything she reads. She also writes a lot of stories. She can do math problems with a calculator, but not in her head. Her favorite subject is history and she has an uncanny memory. She had an IEP in school and went to a resource room for a class period every day for extra help, notes, etc. Other than that, the only class she was ever pulled out for was math. She sometimes needed extended time on tests, shorter spelling lists, etc. but was able to keep up in high school graduating on time with all A's and B's. She has always been a hard worker and a favorite among her teachers. After high school graduation she entered a program called Project Search where she did an unpaid internship at the main offices of a bank. She was definately at the higher end of the kids in the program, as far as disability goes. At the end of the one year program, she got a job there going through the mail and scanning documents, and works every day, driving herself to and from.(She got her license at 18). She is very independent and is really very smart. She has the funniest sense of humor and she is very good at putting her feelings into words. She has a very sophisticated vocabulary, far beyond her years. She has an uncanny memory and has always had a great sense of direction. When she was little she would always remember where we had parked the car, even when I would forget! Through the years one of her biggest struggles has been socially. She has always had friends, but would sometimes say hurtful things and her anger has been a problem occasionally. I believe her anger stems from her frustration with her limitations, and that has gotten better as she gets older. At her present age of 22 she has a large circle of friends and is very active, going to parties, movies, dinner, etc. It is not obvious that she has a chromosome deletion, but she will talk about things randomly sometimes and people think that is odd. We are working on transitioning into a new topic. Our daughter struggles with her weight and loses it and gains it back repeatedly. She tends to eat out of boredom and sometimes depression. She feels like she has missed out on going away to college. She is however, taking a class at the local community college and has a C right now. It is a struggle for her though, and she gets notes from the learning center. We have great hope for our daughter and feel that with a job that pays alittle better and maybe with some help from us, she can live on her own. She looks forward to that! We originally took her to the geneticist until about the age of one year when we decided to stop taking her. They would pick her apart, measuring every little thing and it was making us focus only on the things that were different and not the things that made her just like every other baby. They also told us that the most we could hope for was that someday she would maybe be able to have a job cleaning at a McDonald's or somewhere. We wanted her to be around people who had more confidence in her. We made the decision, along with our pediatrician, to keep her diagnosis to ourselves so she would be treated as normally as possible. We didn't have any information on her diagnosis to share anyway. We had no idea what her limitations would be and decided to assume there would be no limitations until she proved otherwise. We did however, tell her about her deletion when she was old enough to understand. In hindsight, it wasn't the best decision to keep it from her, as it was a big relief to her to find out that there was a reason beyond her control for her struggles. It has been a lonely road for us, as her parents, and me as her mother especially, to have no support system and no information available on her deletion. We really do consider ourselves very fortunate that she is so mildly affected. She is a wonderful, beautiful young lady! Sherry, I would be interested to hear about your son. And Kate, please tell the parents of your patient about this sight. I wish I would have had it when my daughter was growing up! Christine

I forgot to mention that my daughter rolled over and sat at the appropriate age. She walked at almost exactly age 2 and used a walker before that to build her strength. She talked right on schedule. I worked with her all the time, spending hours a day on her motor skills and talking, talking, talking to her!

Christine, I wish my son was as highly functional as your daughter. I don't know if the deletion of 31st quarter vs 32nd makes alot of difference or not, but there is a huge amount of differences between my son and your daughter. The only similarity that it seems is the pinkie finger. Camron also had a straight non-bending pinkie on both hands with a weird nail that was all the way around the end of the finger. Other than that lots of differences. Camron was born 4 weeks early and weighed 4lbs14oz. He had cleft lip and palate, the abnormal fingers a few other minor anomalies as well as a heart murmur. Although the murmur never caused him a problem. They called it superior vena cava. We also met early with geneticists whom basically could not tell us anything about 4q31q. They only could tell us what they thought would happen. They predicted 80% chance of death by age 2 and if he survived then most likely severe learning disabilities. So basically we had 28 years of learning day by day since we had no one to tell us what to expect since we could not find info on any others line Camron. After age 6 months it was becoming obvious that he was starting to fall behind in learning development. He was then and has always been very small. At age 28 he is 4'10" and weighs 90 lbs. he is literally the size of a 12 year old and features even looks like a 12 year old. He has very small narrow feet. he has the cognitive understanding of about a 3 year old and is autistic. He is non verbal but understands Simple commands. He started walking at age six. He has also been incredibly healthy. No major illness and very few minor ones. He attended special Ed school from age 3 to age 22 when he graduated. He has had some behaviour issues that were not too bad until about the age of 14 then they escalated. Mostly self injurious behavior. He pinches himself. He was put on risperdal at age 16 and this totally reduced his SIB to almost non existent. He is very sweet and affectionate and loves swimming and riding in motorized things such as boats,4-wheelers, etc. I have basically given you the short synopsis of Camron as I'm sure you know there is much more but is too much to send in 1 message. I wish camron had the outcome that your daughter has, but I am an optimist by nature so I've always been thankful that he is not as bad as others I have seen. He is healthy and happy and loving. Instead of focusing on what could have been, I rather be thankful that it wasn't worse. Please let me know of any further questions you have. It's nice to converse with someone with a similar deletion. I still keep hoping to find a family with the exact same deletion for comparison. I have been in contact with a family up north with a baby born last year with same exact deletion. He has many of the same anomalies that my son had but were actually worse. So of course they are at the beginning of their journey. I stay on standby to answer questions for them if they ask because I have been where they have been and at least they have someone to relate to. I have never had that. Again please let me know if any more questions. Sherry

Hi Christine & Sherry. My daughter is 9mths old and she has a terminal deletion 34.1 to 35.2. I realise this is different to your daughter & son but I have done a lot of research on the internet and what I have learned is that even if your child has the exact same deletion as another they can be affected very differently. A website I have found is an outfit called Unique ( A British Organisation) they have some very good information. Their website is: www.rarechromo.org Here's another lik too so you can look up your kids specific deletion: http://www.rarechromo.org/forum/DisordersLeaflets.asp I hope this helps. Event though my daughter has a different deletion she still has similarities to your children. She was born with a cleft palate,small lower jaw & large tongue (Pierre Robin Sequence). She has low tone and she had an ASD that closed over somewhere between 1 mth & 4mth. Her low tone made her very floppy in the beginning and she found feeding very difficult so she came home at 1mth old with a nasal gastric feeding tube. She 'graduated' from the feeding tube at 6.5mths and is doing very well now. She still has low tone but it is much improved and she is nearly sitting up on her own. I hope you find this info helpful. You both sound like great mums!! Kirstine

Kirsten , thanks for the info but actually I am already a member of Unique. As a matter of fact, some of the literature they have on 4q deletions comes from me. Thru them, A doctor did some research on 4q and contacted me about my son. Alot of the info they are referring to was info I gave them. And you are correct. Even though someone has a same or similar deletion, they still are all individual and have different outcomes. But since it is so rare, finding more info on this helps us all to compare to see if there are more similarities on same exact deletion. It is great that now there is Internet and organizations like unique and rareshare. I didn't have all this to use when camron was growing up. Thanks for sharing your info. Sherry

Hi Sherry, thanks for providing the info!! Since I found out that Jessica had her genetic deletion I have tried to find out as much as I possibly can. The geneticist sent us a letter and it sounded quite dire...but I guess they have to give you the worst case scenario. I know they can't tell anyone what their child's outcome will be but they could point you in the direction of Unique and this website...I just googled 4q deletion and eventually came up with info that led me to these websites. The geneticist didn't even give me the exact deletion, I had to ask the paedeatrician for that. Jessica seems mildly affected at this stage (physically) and it's yet to be seen how she will be affected intellectually. I try not to worry about her future but it is hard not to at times. I think you are amazing, you must be a very strong person.I was starting to go a little bit crazy trying to find out answers and even though I don't have them it is very reassuring to know that I can connect with other people who know what I am going through. I am yet to find anyone else from New Zealand though...I keep thinking Jessica can't be the only person in New Zealand affected by this. Thank you so much for sharing your experience with me. Kind Regards Kirstine

Kristine, From the information I have read it seems like children with the break from q34-q35 are usually mildly affected. It is very hard to live your life not knowing the outcome. I more than once had wished that my daughter would have something like Down's instead because at least there is a lot of information, awareness, and support. When my daughter was diagnosed with her 4q32 deletion we were told there were only 4 other cases recorded worldwide. It really is a lonely feeling, isn't it? I felt very alone and we had to allow ourselves to grieve for the healthy child we were expecting. We eventually got to a place where we just considered her special and so fortunate that she was in our lives. She has taught us so much more than we could ever teach her and we are better, more compassionate people because of her. We found that just taking it day by day worked best for us. Since no one could tell us what to expect, we let our daughter be the guide, giving her every support along the way. I only wish she had been my middle or youngest and not the oldest because we sometimes had no idea what was due to the chromosome and just normal for her age (we had no one to practice on!) I am glad this group is here for you and I am happy to help you all I can. The most important thing is to have a pediatrician you feel comfortable with and can trust. Our pediatrician was wonderful and she fought so hard for us to get all the help our daughter needed. She also acted as our "therapist" at times! Love Jessica a lot and enjoy her for her differences. Time goes by so fast and they are grown! Christine

I have a 3 1/2 year old son. He has deletion q31.3-32.3. He was diagnosed at 18 months but I knew from about 3 months that something was the matter. He had very poor tone. He didn't sit up till 12 months. He did walk late but still with normal range,20 months. He had global delays. He has severe hearing loss in one ear, wears glasses for eyes that cross and stigmatisms in both eyes. He wears arches for very flat feet. He dealt with feeding issues and reflux until recently. He still can gag on lumpy textures. He is sensitive to fruit, and suffers from frequent diarrhea. He has HUGE issues with sleep, waking and screaming off and on during the night. He takes medication but we have seen little improvement. He is beginning to speak now but although he knows words he doesn't talk with you. He loves letters and word flash cards. He knows about 30 sign language signs. One dr. believed he was on the autistic spectrum. His current neurologist does not. He is simply too atypical to be he has said. He is VERY sensory seeking especially oral, does not feel pain the same way, has NO impulse control and in his teachers's words is the most reaction seeking child she has ever seen. But he is loving and smiles and laughs. He does not feel empathy, he doesn't care if I am laughing or screaming but he cares that I am there. He can be very aggressive to other children, usually just as a means to interact with them. He has very bad tantrums and everything I do for my other children has no effect on Casey. He attends special needs preschool full time within our town. He does well there with ABA therapy and the structure. The class did need to add an aide because of Casey. He is always moving and without your attention he gets into trouble. Our geneticist was supposed to be one of the best in NJ. She told us to make a plan for Casey including long term care, as he would always be with us. In her words she said, "he may know what love is someday but he will ever be in love or marry". She took away our hope. He has had wonderful therapists and teachers who have given it back to us, but it is hard. He doesn't fit into any book, any teaching plan. It has been trial and error. I have yet to find a pediatrician who I feel can help us navigate this road. In NJ, Or former pediatrican told us genetic deletions can best be understood by children with Down Syndrome. He said "you could have corky from the show Life Goes On or you could have a child much worse, it's any bodies guess". Why some people are doctors I do not know. I am very interested in hearing about your children who are older. Although just seeing how different your stories are confirms that there is such a wide range of affects from this.

Sorry he also has a heart murmur, and is frequently sick with severe sinus infections. We had his tonsils and adenoids removed because of apnea and infection but he is still frequently ill. Lately it appears he is having headaches, he can't say but he is holding is head and appears in pain. Also his eyes recently are dilated most of the time. Especially right before he has his crazy periods where he gets extremely excitable and worked up. I read online this can happen in autistic children. He goes back to the neurologist in 2 weeks and we will see. If is also supposed to see a psychiatrist in Jan for the behavior issues.

Christine, Wow. I can toatally sympathize with you on some of your issues. You are right, there seems to be a big variance in some of the physical issues but again, wow, on the behavioral issues. My son is now 28. He is the youngest of 3. He has 2 older sisters that are normal. He has never progressed beyond the mental understanding of about a 3 year old. Some things he has a little higher cognitive ability but, overall it at a 3 year level. Of course we learned this by living and learning from Camron on a day to day basis as there was no guide that was going to tell us how far he would progress. We were also told from the beginning that Camron would always be with us. And they were correct about that. Of course when this is 1st happening to you and you hear these things you want to believe that they are wrong and that this will not be the case for your child. In some cases they are wrong. in my case they were right. Camron has always had behavior issues. mostly self injurious. He pinches himself when mad or anxious. he will also pinch other people if they get in his path when he is mad or upset. He also has a VERY high tolerance for pain. he never cries from pain . He will only cry if his feelings get hurt. He can also be very sweet and loving and loves to give kisses and hugs. Camron's behavior was mostly managable until the age of about 14 and then it started to drastically escalate. I would get calls almost everyday from school saying he had to be picked up.He was also bad at home to the point we were ready to move out and give Camron the house. After struggling with this for several months we took him to a child psychiatrist and she tried him on several different meds that only minimally worked. She finally tried him on Risperdal and it changed our life. He totally changed in his behavior. he was not agitated or angry anymore. He only had occasional episodes but they were usually brief and traced to a reason. He became much more social and enjoyed being around people. That pretty much was the way he stayed for over 10 years. I will tell you that we started having behavior issues again with him last year. We finally discovered that he was having issues of toxcicity on the Risperdal due to some other meds he was on interacting.(Long Story). I will just sum it up to say that we are currently working on getting him back on track. But needless to say that our lives have pretty much always revolved around Camron. Don't get me wrong, we love him, but everyday is a challenge. Camron also has trouble with textures and will only eat blended or pureed food. I'm sure you can tell, there is alot more info that I haven't said, but there is sooooo much to relay. Please let me know if there are any specific questions you have and I'll be glad to answer. Also I would be willing to bet that your son is autistic. My son is, He has huge sensory issues. Sherry

Sherry, How did you son do when he began taking the risperadal? We are starting with medication for Casey. I know he is young, but we and the drs are worried about him hurting himself or someone else. We started Zyprexa this week. He is just groggy, sleeping which is good but I don't want him just sedated. We wanted to help him relax and find some peace, something his little body greatly lacks. Curious if we should keep him on it awhile or try something else?

Christine, my son did great on the risperdal. Our quality of life was so bad because ok his behaviours that we was ready to move out and give him the house. The risperdal was a miracle for us. It totally changed our life because it calmed him down so much. It dramatically changed his behavior. He actually became very social and loving. He would still have some temper tantrums but they were because of specific triggers such as he was hungary or wanted to do something that he couldn't. But it was only occasional and not near as severe as before risperdal. He was a little sedated when he first started the risperdal but after he was on it a couple weeks the sedation went away. We would have never survived without the risperdal. I hope y'all are able to find something that works as well for your child.

Christine 0601- My son Archie (2.5 yrs. q31.21- q31.23 )seems to have very simalar difficulties as your son. everything but but empathy- Archie is overly empathtic he overly reacts even if your tone is very slightly negative. everything else is spot on. Archie was diagnosed with Sensory Processing Disorder by his OT which is very simalar to Autism. There is not much help for SPD in the Uk but i'm told that there is help in the US not sure where you live. there is a great book called 'Sensational Kids' by Lucy Jane Miller it's aimed at mainstream kids but the therapies are still helpful. For Archies sleep problems we have Meletonin 6ml and Alimemazine 1.6ml which makes a small difference but much better than before we had them- which was every single night screaming and meltdowns then headbanging for hours and hours even the whole night.

Hi Everyone, I have just recently (yesterday) found out that my daughter (2yrs) has two deletions 4q31.1 - 4q31.21 and 4q31.3 - 4q32.1. This is all very new language to me. From the moment Grace was born the doctors were concerned that something was wrong due to specific dysmorphic features and underwent genetic testing. The initial tests showed nothing to be wrong but after a year it was clearly evident that she had global developmental delay. She did not crawl until 18months, is still not walking at 2 and not talking yet (she is learning sign quite well though). In Aug last year they did the next lot of testing and we have only now received the results of these deletions. Reading all your stories and the info from 'Unique' makes everything so clear now. Like some of your children, Grace has an amazing sense of direction, and a high pain threshold. So weird! She also has low weight and slow weight gain, small stature, and feeding problems. It is great to finally have some results but also very frightening as to what the future might hold for her. Graces MRI done in February showed that she had thinning of the corpus callosum - which also explains these delays, her eye tracking problems etc. Has anyone else had an MRI and had this result? There is so much I could say about all her little features, operations so far etc so if anyone wants to know anymore about my beautiful little girl I am more than happy to add to the discussion. I am so thankful for all your openness and admire everyone of you for the awesome job you are doing as mothers - its certainly not the path I thought we would be walking and I can't even imagine having had to go through all of this 20 years ago when they didn't have all the information and technology like they do now. If anyone has any advice for anything it would be greatly appreciated - Although we have been going through this since she was born, I am kinda just trying to process all this new info and what it might all mean. Grace is currently seeing an OT, physios, a speech therapist, and music therapist. I can't imagine there is any other therapy needed at the moment?