Hi, We have just found out that my 16 month old daughter has terminal deletion of 4q34.3q35.2 We are awaiting an appointment with the genetics team at Great Ormond Street in London. At present she seems to have the following characteristics: A permanent Moderate to severe hearing loss on the right side as well as glue ear in both ears. She wears hearing aids and they seem to have made an improvement. Gross Motor delay. She sits up perfectly, rolls, commando crawls and shuffles around on her bottom. She stands if supported and has started to pull herself up but is not yet walking or crawling. She has hyper mobility and low muscle tone in her lower joints, especially her ankles. She has very small feet and hands and her legs are also short. She is short In height (9th centime) but her weight is fine (75th centime) her head circumference is on 99th centile. She has a thin top lip and a relatively small mouth, but her other features appear "normal" She can say hello, bye bye, papa, in context, but the worlds are not totally clear. All her other milestones (apart from gross motor) are on track. The discovery of the deletion was quite a surprise to us as we felt that she was getting on just fine, albeit with a few hurdles, and we are anxious to find out more at our appointment. Both myself and my husband have now also been tested and are awaiting results. I suppose what I would really like is to talk to anyone who has some experience of the same or similar deletion, and to find out how their experience has been. I would also be interested in how long you waited for your appointment with your genetic team? Thanks in advance for your help A

Arghhh I just wrote you a long reply and then clicked a button and it all disappeared! I shall try again... My 12 year old has a very similar deletion to yours (4q33-35.2 as well as duplication 13q33.3-34). I am English but live in Spain so any comparisons with the medical or educational services we have received may not be of any great help to you, but we first saw our geneticist at around 1 year old. However, we didn't receive a diagnosis until she was 7 years old as the Dr didn't want to test her for everything she was considering. She preferred to narrow it down over the years as new milestones were or were not reached. We also pushed at that stage for a diagnosis as without a "label" the school system was not very helpful here. My daughter didn't walk until around 18 months old, but by 2 she was running albeit clumsily. Her coordination in general is still not brilliant. She started at a mainstream playgroup where she stayed for 3 years instead of the standard 2, then she moved on to a mainstream school at 4 years old. At 8 years old we finally managed to get her moved to a local special education school after a hard 2-year fight with the education authority. But for us it was definitely worth it. Within a week she was able to tell us what activity she had done at school instead of just replying yes to all questions. I would like to point out (and boast just a little!!) that my daughter is able to communicate in 3 languages. Despite having a "moderate mental disability" she can understand and make herself understood in Spanish, Catalan and English. I mention this as when she was little we weren't sure if she would ever walk or talk and now she does all of that and more! I recommend joining the closed group on Facebook called "4q deletion", there you will find lots of people with children of all ages, nationalities and 4q deletions. It is incredibly helpful when I am worried or just curious and it helps enormously to speak to people who really understand what you are going through. I hope to see you there. Best wishes to you and your family. K

Hi, My son is ten and has a deletion at 4q34.3-35.32 He was diagnosed at age 7 at the Hospital for Sick Children (Sick Kids) in Toronto, Canada by Dr. Siriwardena. I do comparatives a per your list. His hearing tests in the normal range (but he is a boy so hearing is selective) but he does produce a huge amount of wax and daily cleaning is essential. Gross Motor - He has global hypotonia. We were seen at Sick Kids when he was 18-months old because he had never pulled up, would roll over on his own, would sit if seated but was equally likely to make himself absolutely ridged and refuse to bend in the middle, and he also bum shuffled rather than crawled. He finally stood shortly before his 2nd birthday if you stood him up and he walked shortly there after and then ran. But he was 2-1/2 before he could a-frame to stand on his own. He climbed nothing until the week before he was 5. And I do mean nothing - not on to the couch, a chair, stairs. Even today he won't climb more than 3 rungs up a ladder at the playground, although he climbed his first tree last month (I was thrilled!). He is also a kid who likes his feet firmly on the ground. He had to have a lot of physiotherapy to deal with the hypotonia and the hyper-mobility, which started shortly before he turned 6 (really late). At that time, he could only jump twice on one foot and only once on the other. It took two years but in the end he was jumping without issue and able to even climb the small rock wall in the therapist's office. He also started a kindergymnastics program. It wasn't a huge success because the coaches were not receptive, but he is taking parkcour and trampoline today - so we've come a long way. But physio is really important, so please get yourself referred asap. Our biggest issues relate to the hypotonia which is most focused on his bowels and in combination with paralitic ileus has led to mega-colon and encopresis. So he is still diapered at age 10. So I recommend buying stock in a diaper company. The social issues surrounding this is one of our biggest problems. Growth - He was born just at 36-weeks and was 4-lbs 7-oz, dropped to 4-lbs and was released after 10days in the Level II NICU at 4-lbs 5-oz. He has always been about the 10th percentile for height and weight for his age. At age 10 he is 59-lbs and 4'5"... so he is still on the curve at the 10th percentile. His head has also always been large in proportion to his body - he'll tell you its because he has more brains. And on that note we have had some language delays in terms of reading. He does have mild ADD and autism symptomology and currently takes a 10mg daily dose of Ritalin to assist with focus. Other than that we homeschool and he is half way through grade 5. There are no cognitive issues. Fine Motor - the hypotonia has led to fine motor delays, particularly in writing. If you can get occupational therapy, take it. Speech - He does have minor speech issues as he has a very mild cleft palate - really it is so mild its hard to call it that but is does create issues when combined with low muscle tone as it can make his speech indistinct when he gets tired or excited. Speech therapy is really essential. I am so glad you have been diagnosed so early. We spent years trying to get the doctors to deal with the issues and I got accused of everything from bad parenting to attention seeking. I am glad you won't have to deal with that. But you really do have to stay on top of everything and is really can become a full-time job dealing with all the appointments. I will tell you that getting your daughter into as many sports a possible will be a big help. We found tat the more exercise he had, the better he was able to manage to hypotonia. Today he is in love with skiing and even doing black diamond runs on his own and is excitedly preparing for the terrain park. While he does things at his own pace, I fully expect that by his teens he'll be giving me all the usual nightmares... I can't wait. Would be happy to talk one on one if you would like. Every parent has challenges... ours are just a bit different. All my best, L

Thank you so much for your replies. It really helps knowing that there are other people out there going through the same things. Your children sound like absolute delights, and they seem to have done so well, as have you. I am really glad that I found this group and will keep you updated on our progress Xxx

We are here for you! All you need to do is give us a shout out. If there is any advice, it is to ignore the milestone list. Our kids develop at their own rates and you can drive yourself insane trying to fit them into the "regular" box. I found more help in reading through the autism spectrum and ADD for treating the symptomologies when dealing with his quirks. We have also had far more success in having a really good pediatrician who is willing to coordinate his care. Genetics departments are great for diagnosis but they really aren't set-up to coordinate on-going care with multiple doctors and therapies. I gather that the NHS is a bit of a challenge right now, but do doctor shop until you find one who is willing to invest their time in your child. There is a lot of work involved with their care and not every doctor is willing to do it. So interview them. We moved to the rural fringes of Canada several years back and it took some time to get everything back on track (and we are still waiting for speech therapy) but if you read everything you can and work with your own child, you'd be amazed what you can accomplish. She's a lucky girl and you'll give her a great life. All our best, Lili

Hi Eden, Just thought I'd drop a note and see how your daughter is doing. Lili