My daughter who is now 17 months suffers with developmental delays. She is still unable to walk or crawl. She is starting to be able to sit up on her own for short periods of time. I would be interested to hear how other people's children with this diagnosis (1Q21.1 Duplication) have progressed and if they have found anything particularly helpful with their progression. Also does anyone else's child have problems with sleep apnea?

I responded in the other post on this but...I dont see Lee having sleep apnea though he does have problems with not sleeping well. He is such a light sleeper despite us not being quiet when he was a baby. We werent quiet with our oldest son and he sleeps great through everything now. Lee on the other hand wakes from the slightest noise. I cant even go in his room and check on him at nght before I go to sleep like I always did with my oldest because it wakes him. He can reach his light switch the last few weeks now so he turns it on and winds up sleeping with the light on all niht long because if I go in to turn it off he wakes.

Thanks for your reply. My daughter's eyes are slightly different, but not very noticeable. They are slightly slanted and more almond shape and slightly further set apart. When she was first tested the 1Q21.1 duplication showed up but so did a duplication on her 15th chromosome as well. At that time they were unsure of it's significance. My husband and I just recently got tested because we would like to have more children. Unfortunately testing showed that my husband is a carrier for the 1Q21.1 Duplication and I have a duplication in my 15th chromosome. Apparently there is new research (according to our genetic counselor) now that suggest multiple abnormalities or pairs can sometimes exacerbate symptoms. Neither my husband or I have any significant health problems. Does anyone else's child have more than one genetic abnormality?

My son is 3 1/2. He doesn't have any sleep apnea, but we do have problems with his sleep patterns. Sometimes he will wake up at night crying for no apparent reason. They are not night terrors, we went through that when my oldest was a baby, so I know what they look like. He just....cries. His father and I are not carriers of the 1q21.1. As for developmental delays, he has speech delay, fine motor skill delay, sensory disorder and more. I am still going through testing because I cannot get doctors to listen to me about the chromosomal anomaly. Possibly Lee's waking up might be a sensory disorder? Try Sensory Processing Disorder. My son has it but he has the type that he gets little sensory information so does things to get more. Lee may be oversensitive to sounds? Does he have a hard time in crowds or highly populated events such as fairs? Or sensitive to a lot of noise at home, like a loud TV and other kids running around? I have four kids, Ian is the youngest, so it gets loud around here. Ian retreats to his room because he is sound sensitive. Just a thought.

Thanks for your post. Have either of you had your child evaluated for PDD (pervasive developmental disorder). From the research I've done children with 1Q21.1 appear to be at higher risk for these types of disorders in particular Autism. Sensitivity to sounds and speech delays can be symptoms. Autism is now considered a spectrum disorder meaning the severity and symptoms seen cover a broad spectrum from mild to more severe problems. Just something you might want to consider. If you do decide to have them tested I would recommend taking them to a psychologist who specializes in assessment of that disorder. There are behavioral and nutritional interventions that can be helpful. I sympathize with your frustration with doctors not listening to you. I have had to advocate for my daughter a lot. Many medical providers just want to dismiss symptoms once they find out a child has a genetic abnormality. They just blame everything on that. Luckily I work in the medical field and had some help from coworkers and some basic medical knowledge myself. If you aren't getting anywhere with your local doctors you may want to look into going to a larger children's hospital that has a genetics department and see if they are willing to listen. My daughter was on oxygen for four months before I could finally get someone to evaluate her breathing problems. They kept on just saying "she'll grow out of it she has bad reflux." I finally got her seen by an ENT who sent her for a sleep study and diagnosed her with severe sleep apnea. Good luck!

Lee's eyes are almond shaped too with creases underneath. One of his ears is also cup shaped and slightly pointy. People used to joke about him being half elf as an infant. He really isnt sensitive to sounds. He gets scared if the dog barks loudly near him. But she has to be barking for a bit and loud. He really didnt seem to hear much as an infant though and had tubes put in last year in march. I think he hears better now. Sensory wise, he had issues from the time he was born with having his hands touched. he hated it and would pull his hand away from even the slightest touch. I have worked woith him and desensitized him to it and now he is able to tolerate it better. Lately he has trouble going to sleep and I am unsure if its because of an issue or because he has learned that he can flip on his light switch and he likes to watch out the window in his room. We had to put him in a toddler bed because he learned to climb out of his crib. As far as PDD, my oldest son who does NOT have the chromosome has aspergers. He was originally diagnosed with PDD and later changed to aspergers. It is hard to say with Lee just yet because he is sociable, makes good eye contact and all that. Elijah had poor eye contact but was also very sociable and still is. I think it will take Lee getting a bit older to really see any symptoms if he does have anything on the autism spectrum. He does not have any other abnormalities in any chromosomes. Just the one. I am the carrier of it.

Geneschildren: Thanks for the info. I have never heard of PDD before but will surely talk to one of his doctors about it. It sounds very familiar. And, I was told at his Autism evaluation that the only reason they did not give him an Autism Diagnosis is because he has too personal and affectionate a relationship with me. As for a children's hospital, that is what is making me so frustrated. Aside from the regular pediatrician all Ian's doctors are through the University of Michigan in Ann Arbor. Yet the pediatric psychiatry department that evaluated him for Autism NEVER looked at the records from the Genetic department. I even told them when I made the appointment about his duplication. They are literally in the same clinic and all their medical records are computer accessible to each other, which is why I made sure all his doctors were through the same medical facilities.

Sounds like a very uneducated doctor to me. Social skills is a symptom. Like any symptom of any illness or disorder, they can be present or not present. Elijah is affectionate and close but he has some social issues of appropriateness. A child with autism can be fine socially and yet have other symptoms. Social skills is a stereotypical belief of 99.9% of people. They don't understand that symptoms are present or not. It doesn't diagnose a child as being non autistic because they are loving or social. Find a new doctor....

I concur with JCR7676! Sounds like you may want to get a second opinion. Do you know if your child was evaluated by a psychiatrist (MD) or a psychologist (PhD). I work in the field of mental health/medicine and I'll admit I'm biased but in my experience psychologist have much better training and understanding regarding PDD/Autism than do psychiatrist. You might want to go to this website APA.org and click on "find a psychologist." You can select the area you live in and narrow your choice down to people who specialize in this area. If they are not covered by your insurance sometimes they will do the evaluation using a sliding scale. I emailed a coworker of mine who used to work in Michigan to see if she knew anyone. I'll let you know when I hear back from her. As I mentioned before I went through similar problems at a large children's hospital. Trust your gut and keep pursuing answers would be my advice. Also if you think your child has Autism or PDD you could talk to your pediatrician about putting them on a gluten free diet and see if it helps. It likely won't hurt, but check with your doctor.

smagee11 here is who my coworker recommended, "There is a very good autism clinic at Eastern Michigan University with Renae Lajiness-O’Neill; private practice: Dr. Isabelle Beaulieu. At the U of M they have Carol Persad, but her bedside manner can be gruff. Bruno Giordani, very good but does more admin so it might be hard to get in to see him. Elise Hodges, very good, highly recommend." I realize you don't know her or I from Adam, but for what it's worth I trust her judgment. Good luck.

Apparently Ian saw a Psychologist. However, after contacting the clinic I just found out that the notes from the doctor completely neglected to mention anything in the report about his "zoning out", or his aggressive behavior. And it says that his potty training issues and temper tantrums are normal for his age. Yes, 3 yr olds have temper tantrums, but most don't scratch their own faces and scream like they have just been stung by a bee just because they didn't get a green cup. And most don't do the same thing, including trying to injure their teacher just because they change his diaper in the bathroom, which he thinks they are going to make him go potty. And by the way, his rocking is described only as "self comforting" for sleep behavior. Just as an FYI, Ian has broken two couches and sleeps in a lazy boy, just so he can rock in his sleep. He rocks constantly. Not just at night. He does it all day. I have gotten to the point where he knows which couch is his "rocking couch" because it is supported with a wall behind it and is less likely to break the main beam in that one. Even when he visits his father, he won't stay in bed. He moves to the couch so he can rock. And while the paperwork I was given says "sensory disorder" there is no mention in the doctor's notes aside from "sensory seeking behavior".Also, it states normal social behavior, despite the fact that he fought with the dr. about touching him at all and spent fifteen minutes hiding under my chair during the visit. Peeeerrrrrrrfectly normal behavior......... I am so absolutely frustrated. I am not sure if I want to scream and pull my hair out or just give the hell up. Why is it that I cannot get a doctor to listen to me?

One thing I've learned is that Gd gave mothers instincts for a reason. Use them. Trust them. They don't lie. Sometimes it takes seeing a few doctors to find the one that will listen to you. Elijah isn't a rocker but he did have horrific rages. He's on medication for them now and they've gone away with the medication but the rages included hitting, kicking, punching, scratching, screaming and crying. Sometimes over nothing and sometimes over minor things like his camp counselor giving me a magnet for my refrigerator. They usually lasted anywhere from twenty minutes to a few hours and always left him sobbing because he hated himself for it. He even voiced to the psychologist once that he knew what he was doing was wrong and he wanted to stop but he couldn't make himself stop. When there's something wrong, mommy knows it. Instinct. It's a precious gift given to us. Don't quit listening to yours. It's obvious it's telling you something. You spent nine months bonding with your child as he grew. You know him better than anyone.

JCR7676: Thank You. Sometimes it's hard to see the whole picture when you stuck in the mire. You have reminded me that no matter what I will continue to fight until Ian gets the medical treatment he deserves. On that note, I contacted my son's mother (he is my biological son and is diagnosed with Asperger's) and got information on his doctor (pediatric neurologist) so we are going to try and get Ian in to see her. I am told that she actually listens to her patients' parents.

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!

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

Ok lol. I got confused!!!