Hi were new to the group, Our son Archie (2yrs) has finally got a diagnosis after 18months of harrassing health proffessonals. were told by 'unique' that there is no reoreds for anyone living of the same deletion (reassuring!!) as Archie. we have 3 other children. we get no support at the moment other than playworker once a week at the CDC. Archie has very complex needs ranging from modarate learning difficulties to Autisim traits to modarate Hypomobilitiy. he is a loving boy and is kind. he does suffer from extreme tanturms in 0-3 seconds flat. i really would'nt change him at all, don't get me wrong i have days were i keep crying as it's so hard with all the kids but he's my little man and i adore him. he is very focused on me in perticular (mum) and would attach himself to me if he could. were looking forward to being part of a group as im very isolated as as you will know there is just nothing out there. best wishes Tabatha and John xx

HI., Tabatha & John, I'm new to this group too, how's Archie doing? My daughter, Evie is 3 and has just been diagnosed with 4q 24 deletion. She struggled to feed at birth but no one was particularly concerned and since then she has been behind hitting milestones.She now runs and plays like a 3 year old but she only has a handful of words, she is starting to sound like she has hearing loss too. We have still not met a geneticist despite being given her lab report by paediatrician 4 weeks ago. From the lab report it appears she has wolfram syndrome which leads to blindness, deafness and short life span. I' m beyond worried and was just wondering how do you cope day to day and does this constant heartache deminish over time? Evie has a fit and healthy big brother Alfie who adores her, we have a fantastic network of family and friends and yet I feel so alone??? We are linking into some special needs playgroups at present and Evie is having speech therapy. She starts mainstream nursery in Sept and I' m not sure how she will cope. Sorry for rambling on! Look forward to hearing from you, Debby

Hi Debby, Sorry to hear about Evie's health complications but try to remember our kids are individuals and i'm sure that the advice they have given is kind of general. with our kids you kind of have to get used to health pros just working from general advice as so very little is known about 4q and even the research out there isn't that accurate as lots of the info was before array testing and most people with a chromosome disorder have other deletions or duplications on other chromosomes so that makes the studies less accurate. Archie is having alot of behavioural problems at the moment and is quite violent to his brothers and siblings - it's really tough just trying to keep an eye on him all day. were still waiting for an echocardiogram but a grade 2 systolic murmur was picked up recently then were looking at an MRI scan in November. His sleep is much worse at the moment and trying to get any help or support is impossible. I know how you feel- being alone. I feel like it everyday even at special needs group that Archie goes to once a week. The other parents get lots of help and support because their children’s disabilities are more common and I feel terrible but I’m jealous! They get access to so many services that we can’t access because we don’t 'tick the box' I get so frustrated! as for coping- well i’m not really at the moment i’ve been on anti anxiety meds for the past month or so which have slightly helped but I feel like everyday is such a big battle, if i’m not running around manic looking after the kids I’m chasing up appointments or at the hospital or trying to find support for Archie. Then there are the complaints that I’m chasing about terrible treatment we have had like the manager of the accessible homes team saying “Archie will overcome his disability" so we can’t have support or help- how the heck can you put back missing genes! Like you I guess it's just so difficult and isolating- it seems like nothing runs smoothly as people just don’t seem to understand. in some ways it gets easier emotionally to deal with it as you will sort of go into auto pilot but then in other ways it's harder because you realise that you have to just fight for everything and I really mean that- I thought that after diagnosis it would be easier cause we would get some help and I hope that maybe we just have crap services here but prepare yourself that you may have to challenge everything and fight for certain tests and services. if I could give you one piece of advice it would be trust yourself and your instincts as a mother and if your being told something about Evie that you don’t agree with or doesn’t seem right to you stick by your guns because so little is known about 4q you will get all sorts of misinformation and random theories. Always remember you know your child best. I wish I had learnt that sooner. Are you getting additional support for Evie at playgroup? Archie hopefully will be doing we did it through an inclusion officer. He starts in September also and i’m just so worried about it - it's mainstream too but hopefully he will get constant supervision. Sorry for the rant. Tabby xx

Hi Tabby, Thankyou for the welcome advice and giving me an insight into your life. I am not facing the same issues as you at present. Evie is quite demanding and is showing mild autistic traits such as not liking short sleeves, being dirty or her duvet not being perfect. Not much different than other children her age though. I have been taking her to ' normal' playgroups and up until recently i didn' t really see a huge difference but the one I went to yesterday she was bullied by ² girls who will be starting nursey with her.Then one of the mums wouldn' t pass Evie a toy because she wouldn' t say please. I had to explain her delays. I was so angry and hated every minute of the group but I know shehas to socialise, which she actually loves to do. I have managed to get her on a weekly special needs playgroup over the summer with focus on teaching her sign language, they will decide in sept what level of support she will need at nursery. Such a worrying time! I have suffered with PND and I can feel my anxiety coming back. Has Archie never been a good sleeper, is that a symptom of this deletion? Did you insist on the ecg and mri?

Hello, my name is Shaunique my 5yr old daughter has been in getting evaluated and seen by specialist since before birth but wasnt diagnosed with 4q21 deletion syndrome until she was 4. I am definitely struggling to find others like her or at least some advice as to how to help her progress. I will say this donot allow the diagnosis to label your child....i knew something was wrong before she was diagnosed so i got help she never sat up or crawled however began walking at about 2 she was not talking but she spoke sign language she currently talks very clear 6 word sentences as well as other things however with every great milestone reached she seems to be going in reverse. For example she was 100% potty trained now she soils herself about r times in 20minutes....she cannot read write identify colors numbers or anything.....HELP PLZ

Hello Shaunique, Here at rareshare there is lots of useful technical information, but I just wanted to let you know there is a facebook group for 4q called 4q deletion. It is very useful as you will meet lots of people with different deletions on the 4q, ages, experiences, situations. They are always willing to help give suggestions, answer questions, discuss any matters relating to 4q and our children. I hope to see you there! Best wishes to you and your daughter. Regards, Katy