Hello recently joined the site and looking forward to talking and hear from those who have 4q deletion syndrome and parents with children with it. My name is Elizabeth, my daughter Madelynn who is 4 turning 5 in October, was just diagnosed with 4Q Deletion Syndrome her deletion is between 4Q 32.1 and 4Q 32.2, we went threw Gentics at Boston Childrens Hospital! I cant wven explain how overwhelming it was to finally have answers for whats been going on. Madelybn is a very smart beautiful amazing little girl! Madelynn has many of the characteristics of 4q deletion syndrome starting with her heart she has an ASD and a hole, she is very very small for her age weighing only 26lbs, she has feet issues along with the oddly placed 5th toe, she has sever delays, autistic like behaviors that we are currently going threw spectrum disorder testing, she also has a small mouth tounge and chin, she has a few dismorfic features as well, she has always had eating issues (more textures now), and madelynn is very loving cuddlely careing little girl. As a mom i have alot of question and cant wait to learn more and get to understand thos unique syndrome! My first two questions are Anyone elses child Hairy? I havent seen anything about this on any site, and our genetics counselor said there nothing that she knows of. My second question is there familys that have it? We have 3 children only Madelynn has gone threw gentics and has had signs of a gentic disorder, but our son is delaid and has different signs of the syndrome according to the gentic counselor. We are trying to get it aproved for his testing and they wat to test us as well. Thank you so much for reading! Id love to share Madelynns story and journey!

Hi there. We r in. Australia. My daughter is nearly 5 1/2. She too has 4q deletion with two break points. The first is at 31.1 - 31.21. Then from 31.3 - 32.1. Yes! My daughter is pretty hairy. In particular in her forehead. She also has small mouth. Eating issue. Funny little baby fingers. Wide set eyes etc. We have been on this journey for quite some time - Grace was diagnosed around 2yrs of age. So if I can help with anything I would be happy to answer any questions. Regards Rebecca

Hi Elizabeth, Vicki here also from Australia. I have three children all with 4q deletion just at 32.1. They are all at varying levels of development. However all have speech and language issues (from mild to non-verbal), autistic traits to severely autistic, average IQ to moderately intellectually disabled. No physical symptoms such as heart defects, growth delays etc. except for two with low muscle tone that has gradually improved to unnoticeable levels now. How did we get three such lovely little people? Well our first child is the least affected, and the others were born very close together. We received their test results once we realised the younger two were much more affected as they grew older. Geneticists are unsure but suggest that my partner's duplication in the same area (mosaic and no noticeable impact on him) has somehow caused the kids deletion each time. I tell you this so you can see the similarities but also realise that each child is different even with the exact same deletion. It is great that you are getting all the individual things diagnosed and working on them. In our family, we seem to have a lot of anxiety, sensory seeking, rigid repetitive behaviours (all the autism stuff…yay!). One child is on medication for anxiety but the others we have managed without so far. All have different levels of ABA, speech pathology, occupational therapy etc. Best of luck to you. Would be happy to answer any questions. Vicki

Becca, Madelynn is very hairy her back face arms and the oddest place os her neck. And she is so little. We have gone threw alot.. She keeps us on our toes tp day the least.. Did your daughter regress at times? And how is her sleeping? Madelynn doesnt sleep, maybe 2 hours a day and shes fine with it and is still hyper all day. And i was also wondering what other behavioral issues have you delt with. Have they talked about autism?

We have had such a hard time with the school system. Madelynn is still not reciving speech therapy threw school, even though a independent speech therapist picked her up. Its been so hard. Vicki, know you having the three kids with the syndrome i know you said they are all difderent but my question is about size, they want to do the testing on our son hes 2 and has some delays with speech and developmental delays.. But he is the complete opposite pf Madelynn, hes huge hight and weight never had any feeding issues has a big head and none of the other characteristics of the syndrome. Is that something you see in your children? Madelynn has veryy undertoned mucels she looks like a one year old. But is so strong, that my husband can hardly hold her when she get pver stimulated and has a fit or something. Is this something toy have had? What things have yoy tried to help your kids threw the differnt stages, do they get over stimulated easy? How do you keep them calm?

Hi just noticed your post but no time to reply. Will reply tomorrow!!

Hello again, Grace has had major sleep issues, however, in the past 8 months we seem to have sorted it. Thank God! I think it is a combination of things, but firstly we addressed her vitamin/mineral issues. Grace was low in iron, magnesium, and zinc. She had sickness after sickness and as she can't blow her own nose I was completely over it. I took her to an amazing naturopath and she is now on a variety of different supplements - including GABBA enzyme. This is an important near transmitting enzyme important for sleep. Iron and magnesium are also VERY important for sleep - might be worth having these tested?? Next, we delt with the behavioural issues that had developed - her wanting to come into my bed when she woke. Then, she started full time school. she is both physically and mentally exhausted after a day at school so this also helps her to sleep deeper. Grace doesn't really have any difficult behavioural issues, however, she does need routine and thrives from it! she keeps us all in check :) I make sure that I give her lots of preparation when something is going to change in our routine or if we are going somewhere new. She has also had great difficulty with her ability to attend to tasks, however, the school we have her in (Montessori) has helped with this considerably!!!) she is now able to sit and attend to a task long enough to compete it. This is critical for children future learning as it is impossible to learn something if you can't attend to it. I have generally found with Grace that when she is hyper she is actually really tired. She has never really regressed in development. With the early intervention she has received she has gone from strength to strength. I highly recommend the 'prompt method' for speech therapy and felden krais physiotherapy as well as general physiotherapy. Occupational therapy has also helped with her fine motor development. If you have one near by and can afford it, I would HIGHLY recommend a Montessori school with a special ed department for your child when they reach the age of 4. Its structure, philosophy, and method of teaching is just what our precious children need to thrive and become all that they can be.