Hi, My name is Tracey & although my son is 21 years old & I have been fighting (not literally) begging & pleading with the doctors all these years, it has only just been found that he has a deletion on chromosome 4q. As yet they haven't said where the break point is. They are still doing more tests. Obviously, there aren't many places to get advice or to chat to people about this condition with. Even if we just say hello that would be a good place to start. Tracey

Hi Tracey, My son is almost 4 years old and his break point is 4qdel(21.3q;q23). I am part of CDO (Chromosome Disorder Outreach) and Unique and also part of a group on Yahoo on the 4q Deletion. They are all precious fonts of information and I can count on other moms for advice or tips on things they went through already. Although I haven't find any other kid with the same deletion as my son, many features, behavious or health issues are very similar. Fell free to ask me anything and tell more about your son. It is nice to see older kids, we hear so many nonsense in the early years... Take care Daniella

Hi! It's so nice to hear from you! Yes, I know about CDO & have contacted Unique. I agree with you that both these are helpful. I spoke to Satnam & Beverly from the latter. They're lovely. Sadly, they can't help too much as I still don't know my son's break point! I do understand they are limited with what info they can give me. Tell you what though, It's so good to hear that your son is still young & has already been diagnosed! It's been exhausting trying to get someone to acknowlege Stephen's problems let alone get a diagnoses. I know that testing is fairly new for these conditions but still feel slightly bitter that it has taken so long. I can only imagine what you may have heard about 'getting older' with 4q deletion. It hasn't been easy but I can state that (up til now & for the forseeable future) Stephen HAS got a future. I feel I have to say, although the consultant has said that Stephen HAS got a deletion on 4q they are 'pussy-footing' about & haven't yet said this IS the cause of his problems. I spoke to Satnam & she said that if they HAVE found a deletion on 4q, then this IS what Stephen has. Now they are testing me & his dad but not my daughter though they suspect she also has it. This delay, I don't get it! My daughter has different dad to Stephen (I'm the common parent) Do you have any other children? Do you know if your son's 4q is de novo? (hope that's right jargon) Will try to check in here more often.

Hi Daniella, I 'popped' onto Yahoo. I was NOT that surprised to see the mention of autisum with 4q deletion. This was one of the first questions I asked Stephen's paediatrician, (he was about 18 months old) it also has been one of the LAST questions I've asked! I never get a straight answer. The last time I asked, I was told, "It's very difficult to say if someone has Autisum. There is such a wide range." I am pretty sure Stephen has got it. Has trouble with relationships, is very fearful of strangers, doesn't make eye contact doesn't like physical contact etc etc. Would say he doesn't have the worst (that's a blessing) Does your son have Autisum at all? Have to admit, a lot of my findings are based on assumption (though I have done lots of research & been right most times)

Hi guys my name is Laura, my daughter Violet is 19 months old and has 4q deletion (4q13.1-21.2) She is profoundly deaf, has very low muscle tone, she cannot hold her head up, sit, crawl or walk.She has an abnormal bladder and a kidney reflux. She is very small with short arms she weighs only 13lb and 65 cm long. Proffesionals have only told us that they really do not know what to expect as there are very few children with her exact karyotype, all we have known is that it would affect her growth and development she would have learning difficulties and mostly the information we have got about it has been from unique. They have been fantastic, the list if problems on thier information leaflet about 4q was spot on, she had feeding difficulties although now she eats pureed foods which is fantastic, she had reflux and used to vomit constantly this has now stopped. She has many appointments and proffesionals involved and she is in and out of hospital with illnesses, operations and comlications but she is a loveable little poppett everyone adores her she has an easy going nature and enjoys life even though she is often unwell. We do not have a clue what the future holds, if she will ever walk and so on and life is very difficult but she has such a wicked laugh and smile and has brought us such joy i wouldnt change it really! I am very interested to hear of your experiences it seems there are some common threads. How old were your children when they sat up for example. We are lucky in that we had a diagnosis very early she was 2 weeks old but it sometimes is more frustrating as nobody has ever heard of it, i am sure you will have similar frustrations so it will be nice to chat. At the moment i am dealing with the psychological hurdle of a wheelchair! I know it will be best for her but having her in a little buggy is the last bit of normality im sure you understand. Anyway merry christmas hope you get in touch xx

Hi Laura, Violet sounds just lovely! At the present time I don't have an exact karyotype for my son (& no definative test as yet for my daughter. Unique are really good but sadly they can't help me much right now due to lack of karyotype but do their best to advise) Parents of 'special needs' children have to change their expectations of their children. Of course, we still need to encourage them to reach their potential but I think they teach & guide us much more than the other way round! It is good that you have had a diagnoses so early on (even if it comes later they can't always give straight forward prognosis due to rarity of condition) My 1st born had lots of problems in his 1st 2 years (though in retrospect, they weren't as serious as they could have been.) My 2nd son was sadly still born (though we weren't given a reason) & my 3rd baby (a girl) has milder symptoms than her half brother & her full brother. I feel it would have been helpful to have been able to tell Dr's that the children are suffering from 4q deletion when certain symptoms have arisen, instead of the Dr's looking at me like I'm a loony! Maybe I'm wrong & it wouldn't have made any difference. Yes, I do understand your frustrations about 'normality'. I also understand about psychological hurdles. This is kind of what I mean about expectations. What you need to come to terms with (in every way, ie emotionally also & that's hard but you will do it) is that for Violet, this IS normal. Have they given a prognosis on if she will walk unaided? Even if they don't know, she could surprise everyone with your help! Great to hear from you & I hope the new year brings many good things. Tracey

Hey my name is Ashley! I am very new to communicating with others who are familiar with what I am talking about. My daughter (Brooklynn) was diagnosed with a partial deletion in Chromosome 4q 21.22 to 21.3. She is actually very smart and probably one of the best babies to have. Never cries, sleeps well, loves everyone and everything. But is physically behind a lot. Of course I got the same reaction all of you did, she is just behind and nothing to worry about. But I knew and pushed for more answers. I had the FISH testing done by the Mayo clinic in Minnesota. This is all anyone can tell me. It was de novo and hopefully the outcome is good. What kind of answer is this? So I finally have come to terms with it and just do everything possible to help her. She has physical and occupational therapy, a teacher (AEA), a cardiologist, neurologist, genetics doctor, and I started taking her to a chiropator here just recently to try and help. I feel a little guilty that the other children with similar deletions are way worse than Brooklynn is. Im very relieved that she isn't as bad. I feel very sad for us parents who are out there with a child who has a rare chromosome disorder with no answers. I would love to discuss further anything about the disorder. I am always up for meeting some parents to chat with about this. It is very comforting to know that we are not alone. Thanks so much. Ashley

Hi Ashley, welcome to Rareshare! It's good to hear that Brooklynn is doing so well. Athough my 1st child (Stephen) had some issues with sleep as a baby (& still does!) I would say that he doesn't have the worst symptoms that there are either. I think our biggest problem has been getting any sort of diagnoses at all! You probably read that he is now 21 yrs old & the deletion has only just been found! We are still waiting for certain results back now. How old is Brooklynn? What alerted you to the possiblity that she may have 'problems?' I wonder if it was her physical delay or other things as well? You sound like you are doing everything you can to access all the help available to her. Well done you! Seems that's what parents like us have to do. Seek out the help for our children ourselves. I can understand your reaction to being told . 'It's de novo and hopefully the outcome is good.' but sadly, I wonder if they Dr's can actually tell us more than that. Not only because the condition is so rare but also due to each person's symptoms are so varied. I know saying that doesn't help anyone involved but it's my own conclusion. Have been to see GP re: Stephen as he gets a lot of pain in joints/muscles. He has to go for a blood test to check the inflamitary levels in his body. Not sure if this would mean that he may have arthritis or something similar. All these tests take so long! Yes , I agree it is good knowing that we are not the only one's in the world affected. I must just say to you though, please NEVER feel remotely guilty that other children's symptoms are worse than your beautiful daughter's. Be pleased for her. Would be great to hear more about her! Happy New Year to you & your family. Tracey

Hey Tracey! I too have come to realize that doctors don't know anymore than we do. Actually they are learning from our children to help other children in the future. Brooklynn is almost 16 months old. She was about 5 months old when I really started to think something was wrong. She wasn't quite like my first child and was not trying to move or sit up. You know when your baby is a few months old and they can start to stand in your lap? She still never has. She never puts weight through her legs. She also had really tiny feet, that still don't grow very much.The doctors just kept telling me she would be fine, but I knew. And looking back now, I knew when I was pregnant something wasn't right. She hardly moved in the womb either, her femur bone was always short to where it should of been on the ultrasounds. So when people say mother knows best or that motherly instinct, its true. You just try not to believe it at first. About your son's pain in his joint/muscle's, I too feel that my daughter has a lot of pain in certain areas. During her physical therapy, if she is in the crawling position, she cries or throws a fit. Which she never does otherwise. I think maybe it hurts her knees or hips. So keep me updated on his condition, maybe it will help her before it gets worse. I know when I went to have the testing done to find out what my daughter had, the doctor's told me that the testing for these kind of rare disorders had only been around a few years, and if it would had been my first child (4 years old now), that would have just diagnosed her MR. So I'm very glad you were able to finally get some answers. Makes you wonder how many others who haven't had the testing actually have a disorder like our children? Why haven't doctors pushed to have it done to find out? How many people out there in the world are "MR" but really just another rare chromosome deletion? Thank you for responding to my babbling. Have a great Superbowl weekend! Ashley

Hey Everyone! Just had a letter back recently from the geneticist saying....I too have a deletion on my chromosome 4q!! It so is not a shock! I'm 44 years old! Yes I have had some struggles through life (the worst knowing that my children have problems) Logic tells me it's not my fault (cos I never knew) but my heart tells me cos they got the condition from me, it is my fault. Anyway, none of us have yet been told what the 'break points' are & now they want to test both my parents to see if it came from them. I just wish they'd concentrate on finding out about my daughter! Ashley, I don't want to give hope or make things gloomy if I don't know for sure but I must tell you this! Up till both my children were 4-5years old, they both had tiny feet. Stephen is now v. tall & his feet have caught up! Lorian is about average height or just below & I'd say her feet are probably a size or 2 down on her friends! I'm saying this because what you said about Brooklynn's feet. Maybe her feet will catch up. I now have an explaination for why my toes on both feet are tiny! Hope everyone is ok. Tracey G

Hey Tracey, I was reading the post letters, and I saw that your daughter 's deletion is close to my son's . Ryan has Deletion 4q 21.21- 4q 21.23 which is 7 chones deleted ,4.9 -8.0 Mb. I really am just learning about this myself. We just find out 5 months ago . Ryan is doing go so far, and we thank god everyday for that. Ryan was: small feets and hands Big head frontal bossing broad nose high palate low set ears feeding difficultys with thin juice delayed speech physical delays low muscle tone in upper body lazy lid in left eye Ryan had IVH on the brain when he was born which we find is no from the deletion. You are the first peron I have found that is anywhere close to my son. It would be great to talk to you and learn anything, and maybe I could help you too . This is so rare and Dr's don't know much to tell us. It is really great to hear that your daughter is doing so great. Ryan does not cry, and is always so happy too. Well thank you for listerning and God Bless your Family . Stephanie

Hi Stephanie, It's good to hear from new people (though a part of me wishes we didn't have to be here) Though I do get alerted to new messages, it feels like a big delay. If anyone would like to contact me through Facebook, please do so. My full name is Tracey Gruber. I am very happy to hear what anyone has to say & to answer everyone. (Not on a professional basis but as a parent) Stephanie, it's good that Ryan is doing so well (I know from experience that the main reason our children do well is down to intital perseverance from parents) I would say to any parent, well done!! It's wonderful to know that there are so many parents out there that have an 'overwhelming' love for children who don't find life too easy! At the present time, my daughter hasn't had a test for the deletion. This is so frustrating for me!!! The geneticists have (in my opinion) made everything so much more complicated than necessary! My son has many problems but they STILL refuse to believe that any of his problems are attributed to 4q deletion until they have completed tests on the rest of my family. They do agree however that BOTH my children DO have 'something' going on. How old is Ryan? I hope he continues to make good progress & keeps up being happy! Take care Tracey

Hello everyone.. My daughter Sanjana's deletion is 4q12-q21. She is 6 years old. Even we found out about the deletion only when she turned 5 and that too when as parents we took charge of things. From month 2 she has been on various early intervention therapies yet nothing was diagnosed. But frankly I have a very different take on this. Sometime I am glad I did not know earlier as I feel if I had read all the (though v little) information available on the net and problems that the other children face, we would have not pushed myself so hard and discovered that she CAN do so much more... She started crawling at 12 months and walking only after 2 years... her speech came only after 5 and even now, thought she talks constantly... certain sounds are not clear.. She goes to an integrated school and is on a modified syllabus. And most of all she is brave, most loving and very hard working... I am glad to have found this group of parents which issues as close as possible in this strange wold of chromosome deletions!! Lets keep this group active and learn more for each other experiences.. Amee

Hello Amee, I am very interested to hear all about your daughter she sound just lovely, her deletion is so close to Violets, the closest iv ever found in fact. It sounds like she does really well, at the moment we dont know if Violet will ever walk sh cnnot weght bear at all bt everyone here has given me hope. Do any of your children have a hearing loss. Violet is profoundly deaf and as her hearing aids are of little use, she is being assessed for a cochlear implant. Obviously this is a very big op and we have not yet decided what to do. As delayed speech seems to come so late with this deletion we are keen to give her every chance of someday communicating verbally which of course she wont ever do if she cannot hear.I am on facebook laura jones my pic is of me and 2 kids and dogs theres probably alot of laura jones but if u find me and add as a friend i have pics and vid of Violet. How bizzarre to once thinkwe were so alone and all of a sudden i find lots of other kids with 4q, it seems all the medical literature desperately needs updating! xx

FANTASTIC! I have just read the postings from Amee & Laura & feel so pleased that this forum was started. Laura has said that Violet's deletion is close to Sanjana’s. This proves that contact through these sites really DO work! Let's keep it going even if we 'meet' on Facebook or elsewhere. Does anyone know if 'Ataxia' is a symptom of 4q deletion??? Take care everyone Tracey x PS Laura & Lori I have tried looking you both up on Facebook but can't find you!! Will give my email (if Rareshare allow) ttwidle@aol.com Please anyone here feel free to contact me or look for me on Facebook! Would be great to have contact with each other.

I don't check here very often, I want to make sure you all know about groups.yahoo.com/group/4qdeletion .. We have 80 or so members.

Hi everyone, my name is Sharon and my 8 year old daughter has 4 q deletion 27-31.1 de novo. She also has ASD, Raynauds disease and general anxiety disorder. She is on humatrope growth hormone treatment. I found out about this site through facebook on the 4q deletion group (great idea to set it up by the way!!!) I will try to check in to this site often but to be honest i am on facebook more...... too addictive!!!!!!!!!!!!

hi everyone, my name is nicki and i have a 10 year old boy called jake and he was born with 4q del (33q-35q) de novo when i went for my first scan they found something wrong and they told me that he was downs but then my next scan showed things were better and they said there souldnt be any thing wrong and would just need some med when he was born for his water on kidneys. i was 7wks late and went into hospital 12 and an half hrs later jake was born, he wasnt breathing so they rushed him off and went to the special care unit i got to see him 2hrs later, jake was only 5lbs 8ozs doctors knew right away something was wrong and tested him, next day they told me and coulded tell me much cos jake was their first case but they looked on net and did loads for us and started getting us help from the day he was born so i thank them doctor so much for what they did. jake was allowed home after 2wks he suffered with reflux for first yr so was really small i was always worryed about his weight he was so small but i dont know why i did because hes height is fine and hes weight is fine and he is a very good eater, jake has 2 little fingers and joint toes his eyelid is low and wears glasses cos hes eyesight not good but is getting better. jake always sleeps well and is really friendly loves meeting people, he is starting to read but cant write, he loves cars and computers and goes to a special needs school and seems to be doing really well. started walking at 2 and talking at 6 and asnt shut up since lol. he has been hard work first 5yrs in hospital 27 times but seems fine now. he is the best thing that has happened to me and i wouldnt change him. god ive gone on abit. sorry. i am on facebook, nicki garland.

Shiny has ataxia as a secondary diagnosis.

Hey! I see that this is a very very old discussion, but the doctors cant find anyone with the same karyotype as mye daughter. Here I can see that there are two very similar to my daughters. lorzij and Amee, if you see this, will you please respond? My daughters has a 4q del 13.1-22.1! :)

Hi, my son had a microarray over a year ago and I was told he had 4 variants of unknown significance. This week we saw a new geneticist for my son and daughter and when I mentioned I'm curious to find out if my daughter has any of same variants the Dr told me my son actually has a deletion on his 4th chromosome but he couldn't find any disorders to link his issues too. My son is 33months, can't walk without his walker, very limited vocabulary. He has hypotonia, strabismus, short stature. The only reflux issues he had was drinking dairy milk. He has low human growth hormone. His pinky fingers only have one flex crease. His feet are small and flat. Does this sound like anyone else's kids?

Hi I'm the Dad of a 17 year old daughter who's Been diagnosed with 4q deletion...specifically 4q 21.21 to 22.1. For a start and even though I created it before Her diagnosis ( which was 3 years ago) you Are welcome to check out "My Personal Story" at Missinglinksvirginia.blogspot.com It's old but may sound familiar. Look forward to chatting sometime. Rick

Hello! I have a son who is 10 and has been diagnosed with a microdeletion on chromosome 4q13.1. The doctor said the deletion is approx 210 kilobases and includes one known gene, TECRL. We found this out about 2 1/2 years ago. The geneticist sees us on a yearly basis, hoping to learn more about this deletion as more cases are discovered. My chiropractor, however, suggested to me just this month that I go online and really look into this myself. He has been our go-to doc when I've reached my limit and just don't know what I'm doing. We have a great team working with Steeven, our son, that includes, a cardiologist, pulmonologist, gastroenterologist, developmental doctor, chiropractor, pediatrician, genenticist, pt/ot/speech, neurologist, psychiatrist and are currently seeking out the help of a counselor to guide our family through learning best how to work with Steeven at home, another words we need HELP parenting. Some of his characteristics are: short stature large head wide set eyes foot issues scoliosis vision problems hairy back and facial hair no sense of taste/smell sensory processing issues learning disabilities Abdominal migraines ocd behaviors brain malformation obstructive sleep apnea mild narrowing in his left pulmonary artery low muscle tone food sensitivities as well as food obsessions overactive bladder etc….. Steeven is 10, will be 11 in december. We adopted him from Haiti when he was 5. It has been a medical journey, to say the least. He is one of the biggest blessings in my life and I want desperately to learn all I can about his health and help him to live the most complete life possible. Reaching out to others who share similar stories as mine is my way of taking the first step to gain more knowledge of chromosome 4 deletion. I am very interested in knowing what others have done that has offered relief of certain symptoms/behaviors and hope to gain more knowledge in this area. We currently give Steeven fish oil, probiotic, multivitamin, glutamine powder, med for overactive bladder, magnesium citrate (for constipation), all daily. He is also on a gf/cf diet. He suffers from extreme bloating as well. We have tried the FODMAP diet and noticed improvement but could not follow through with it as his food cravings intensified and ruined the diet plan. So, trying to figure out how best to handle this. Yet another adventure we're on!

I recommend you all to join the 4q facebook page to chat with others:)

Hello im Elizabeth my daughter Madelynn is 4 1/2, she just got diagnosed with 4Q Deletion Syndrome her break is 32.1 to 34.1. Madelynn is difficult at times and is different day to day sje regresses alot and goes from talking to not. I cant wait to learn more about this and hear from differnt parents and people.. I seen someone Mentioned the FaceBook Group for the 4q deletion syndrome i tried to join it and still waiting is there a way for someone to add me?

Hello Elizabeth! I can try to add you! I think I might add you as a friend first though.. What is your full name? If there are a lot of people by that name, how does your profilepic look like:)?