Hi am new to this group was with unique but left my son has 1q21.1-21.2 dup. I feel i was let down by unique as group on facebook is not as nice as they say in my opinion. I wanted support or any Information with reggards to my sons long list of issue's please if possible

Hi, Jenny. You are not alone! While this is a rare genetic disorder, the amount of info is growing. A great website based in the UK is Unique: http://www.rarechromo.org/html/home.asp They have some helpful materials on their website, including a downloadable pamphlet about this condition, it's symptoms and some things to look out for. They also maintain a confidential database of families affected by 1q21.1 micro duplication who volunteer to share their info with other families. We participated in that and revived a list of about 30 affected families and their contact info but none live close to us so I haven't reached out to anyone. If you read back through the posts and topics on this RareShare website that we're posting on here, you'll get a good sense of the variety of challenges that other families are dealing with--some relatively mild and others quite serious. There is also at least one major international research study going on right now (SIMONS VIP) that you may want to participate in. My family did, and we learned more from those three days than we've learned since our diagnosis--it was the first time our son had ever been seen by doctors and therapists that had encountered other patients with this rare condition. Our son is 4.5 years old now and has relatively mild complications that seem related to his genetic duplication -- he's had eye surgery for strabismus (crossed eyes), ear tubes, and some minor dysmorphia (small ears, small mouth, relatively short fingers). He's never been a good sleeper, but recently we've had great success with time-released melatonin -- and he's giving us full nights of sleep for the first time in his life. He's an incredibly affectionate and bright child -- full of life and energy. He had some significant language delays between ages 1-3 but he's almost entirely overcome those by now. He does not have autism, but he is currently being evaluated for ADHD. He also has some significant fine motor delays that we are working on through his preschool and occupational therapists with the school. He is quite intelligent and we hope he will be mainstreamed in regular education classes by the 1st or 2nd grade. By age, he's supposed to start kindergarten in the fall, but we may hold him out a year to work on "catching up" with fine motor and attention. Since he's a mid-August birthday, he'd likely be one of the youngest in his class if he started "on time." As I said earlier we've learned a lot about our son's particular challenges through the battery of tests and consultations we experienced by participating in the SIMONS VIP study. We had gross and fine motor skills evaluations, intelligence testing, psychological observations, autism testing. As we explore the likely diagnosis of ADHD, we're working with a team that includes a neurologist, a psychiatrist, and a social worker that works with entire families on behavioral strategies and therapies. If you'd like to ask any questions privately (not on a public board) feel free to email me. Best of luck to ou and your family as you figure out what this diagnosis means for you all.

Hi, my name is Jenny, my daughter has just been diagnosed with 1q21.1, she is 51/2 years old. She has hypertonia, ptosis, autistic behaviours, sensory processing difficulties, and macrocephaly. and other things (its late, and my brain is aching from all the research as we only got the dx today) she is a delightful little girl, she also had sleep apnoea but has had her tonsils and adenoids removed which has solved this, she also has grommets (ear tubes) she has some abnormal facial features such as epicanthal folds, low set small ears, a small mouth and a high arched palate. she sat at 11 months and walked at 22 months, she never crawled, but bottom shuffled. I would love to hear from folk who have more info on this duplication. xx

My wife and I were tested and Luke's duplication is not hereditary (de novo). We have an older son who has not yet been tested (but will be soon through the Simons VIP research study) -- he shows no symptoms whatsoever and likely does not have the duplication. Of the 27 genes affected in Luke's duplication, 13 are OMIM genes -- all 27 genes are listed in his lab report. Luke's head size has always been in the normal range, and the only physical symptoms beyond his eye surgery that he has exhibited were noted by a developmental pediatrician who stated that Luke has a small mouth, ears with slightly excessive folding, and mildly short fingers. He does not have any trace of a heart murmur. Because Luke has had developmental difficulty with speech production, he had his vocal cords scoped when he was getting an ear tube removed. In addition to vocal nodules (just like Adele!) he had a very slight (and benign) webbing between his vocal cords -- as some people have an extra bit of skin between their fingers. That's the final symptom that prompted his ENT to refer us for genetic testing.

Hi, Tiffany - You're not being a pest. Just a responsible parent! I answered some of those questions above in my first post, but I'd be happy to discuss specifics more via e-mail rather than public post. You can reach me at my email. Take care, Mark

We haven't been in to discuss his results yet, but I want to go in there prepared to understand. So when you say 27 genes, are those listed on the lab report from the microarray? On my sons report it states that the duplicated region contains 9OMIM genes. I would love to compare these genes with you if you would be comfortable with that. Have you been tested and is Luke's hereditary? I keep finding indications that it could be from me or his father daily. (his father has a bigger head when we went to the neurosurgeon, I am prone to eye infections).Is Luke in EI? Does he have a speech delay? Is he in preschool? Im sorry, hopefully I am not being a pest!

Thank You!!!

Thanks! I signed up my son

The Simons Foundation is a well known organization that funds research in North America and Europe on the origins of autism. The Simons Variations in Individuals Project (SVIP) is currently investigating whether there are any connections between genetic copy variations and autism, as kids with such genetic micro-duplications and deletions seem to have an increased rate of autism. The project is based at several universities in different regions of the US and has recently expanded from chromosome 16 to include chromosome 1q21. My family just retuned from participating in the study at the University if Washington in Seattle. It was a phenomenal experience. The team of psychologists, therapists, and medical doctors was outstanding and spent the better part of two days with each of the members of my family. (There are four of us, though only one child with 1q21 duplication. The rest of us were tested as a control group and for points of comparison with our 4-year old.) It was the only time we've spent with doctors who've ever met and observed kids with this condition. Thy run a battery of medical and developmental tests: neurology, psychology, autism, motor skills assessments, etc. they also offer extensive feedback tailored to meeting your child's unique challenges -- very helpful when returning home to talk to doctors and educators working with your child at home. All expenses paid (generously): travel, meals, accommodations, even a stipend for each person who participates. Read more about it at http://www.simonsvipconnect.org Here is the info on how to participate: http://simonsvipconnect.org/index.php?option=com_content&view=article&id=234&Itemid=352&lang=en

Lee started speech very early. He was a year and not communicating via crying or anything at all. He's speaking now. Was about 3 1/2 before fully speaking. He's in kindergarten now and will be 6 next month. He still gets speach. Never stopped. He has trouble with "wh" questions like what when why where etc. he also has trouble with sequencing stories, pronunciation and answering direct questions. He also gets OT for fine motor stuff like cutting, buttoning, zipping, writing, and copying shapes and symbols etc. he's having trouble drawing shapes still. Also letters. He also has sensory issues so he gets to OT for that as well.

Really helpful thanks!

The school district provides the extra support to Luke in the form of a speech therapist, an occupational therapist, and a resource specialist. Our school district is somewhat exceptional when it comes to kids with special needs. I believe that any child that demonstrates a need in more than one area of development is evaluated for an Individualized Education Plam (IEP). In California, the school district becomes the point of contact for developmental services as soon as the child turns 3 years old. The school district will provide (at no cost to the family) the specific therapies that will help he child to succeed in school. Of course, one is always free to pursue private therapists with one's own resources, which can be prohibitively expensive (one of our favorite speech therapists charges $200 per hour in private practice). We have never had to pursue private therapy because he qualifies for the school specialists. Luke has been receiving Speech and Occupational therapies at school since he was three. In the preschool years, he would simply visit the school for an hour or two each week to do small group therapy with the specialists. Prior to kindergarten he enrolled in a reverse mainstream preschool class that mixed kids of differing developmental needs with typical kids. At that point, his therapists would pull him and one or two others from the class each week and work with them in another classroom for 30 minutes. That's pretty much how it worked for him in Kinder and now in 1st grade. The only difference is rather than pulling him out of class, the therapists will sometimes be pushed into the classroom and conduct the therapeutic work with Luke and one or two other kids as a "station" in the room at a time when the entire class is rotating between stations. This has the effect of normalizing the experience and reducing anxiety on all the kids. Annually, my family meets with the team of teachers, therapists, and the school principal to discuss Luke's progress in meeting the specific learning objectives of his IEP. We evaluate what's working and strategies that we can use at home to reinforce what he does at school. He's shown steady improvement and I don't anticipate he'll be on an IEP much longer -- as he'll likely be in the normal range developmentally before he hits middle school. I understand that each school district is different, but I hope yours is as excellent as ours in its commitment and resources. I would ask your child's teacher (or the school principal) if you could get your child evaluated for special speech services and, if necessary, an IEP. Explain that you have a recommendation from the speech therapist to pursue such services in the classroom. That should be sufficient to begin the process of being tested with the school.

My son had psoriasis really bad on his scalp. It started out as cradle cap but I was told at a certain age it becomes psoriasis. Little clumps of his would come out of his scalp because of it and we battled it till he was 4 when his dr finally prescribed a medicated cream for it. It made his hair nasty greasy and gross but it really helped it go away and it hasn't reoccurred since.

Oh my MIL told me the patch on her scalp is just cradle cap. Derrr I didn't realise they could still get that aged nearly 3.

Hi, Thanks for your reply, I should get it checked out. I don't want to use a medicated shampoo, as she cries even with the no tears stuff!

Thank you!

Also, here's the link to Unique's Facebook Page: https://www.facebook.com/pages/Unique-Rare-Chromosome-Disorder-Support-Group/130797430472?fref=ts And this is the link to the Simons VIP Connect Facebook Page: https://www.facebook.com/SimonsVIPConnect?fref=ts Info on the Simons VIP Research study on the links between chromosomal duplications and autism: http://www.simonsvipconnect.org/

Unique's homepage: http://www.rarechromo.org/html/home.asp Booklet on 1q21.1 microduplication: http://www.rarechromo.org/forum/LeafletConfirm.asp?ch=Chromosome%20%201&fn=1q21.1%20microduplications%20FTNW.pdf

Lee has some facial features too and he's delayed in fine motor and speech. He also has sensory processing disorder but it's mild. Mostly with loud noises. If you want, you can friend me on fb. Just send me a private message that it's you because I tend to ignore names I don't know lol. http://www.facebook.com/JenniferCRutherford?ref=ts&fref=ts

Sorry forgot to say our little girl also has the characteristic facial features but this isn't causing any problems for her so far.

Hi I am good, thanks. Glad to have found this group, I have read up on all the research I could lay my hands on but reading about other peoples experience of parenting children with this duplication is always good. At the moment our little girl just has a speech delay. Any tips advice on this gratefully received.

Hi Nicky! Did you try this link? http://www.facebook.com/#!/groups/152298018180760/ Its a facebook group. You can also look for me personally. I have a page for Pediatric Stroke Awareness and it is named that. It has a profile picture of a boy with a riding helmet.

my daughter has been diagnosed today and i would like to join ur facebook group. I cannot find the page. Could you help please Nicky

aww thanks :) Look for me there. My name is Jennifer

Ok lol. I got confused!!!

LOL. I am the mom. The boy with another mother I gave up for adoption. So there goes the theory on nurture above nature.

Good idea!! And I'm so sorry. I always assume it's the mom on these boards. The stroke one I belong to is 99% mom and 1% dad. I should really quit assuming haha. You're your childrens BIGGEST advocate as a parent. No one will ever advocate for a child like a loving parent will. Let us know how the appt goes!