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PLEASE SHARE YOUR STORY, lets help each other

emmie79 Message
10 Apr 2010, 02:08 AM

Hello, my name is Emma and I have a son Mark Henry he is 15 months old just diagnosed with this genetic disorder. He started having spasms at 5 months, they are uncontrolled with medications and the ketogenic diet failed. His EEG and MRI are abnormal. His diagnosis evolved from IS to Myoclonus seizures to epilepsy to a rare metabolic disorder. We were recently told his condition may be terminal and then one of his genetic tests came back indicating this duplication at chromosome 22- the neurologists and neuro genetics drs we see are puzzled. Although he has several medical conditions we are unsure if they are related to this genetic abnormality. He has undiagnosed seizures and I have not been able to find a specialist or other patients who have this genetic condition and have seizures as their major symptom. He is in PT, OT and speech and is currently developmentally delayed and is at about a 10month level. He can learn but has to be taught everything it is a very challenging process. He just started crawling. Both my husband and I are awaiting the results of our genetic testing to see how this happened and the chances of it happening in future children, which we plan to have. We have exhausted our medical specialists locally we live in s. florida and have an appt at the Mayo Clinic in May in the hope to get some more answers. PLEASE SHARE, I dont know how rare this is but I would like to hear your stories... I see there are several members here but not all have posted info. Can I suggest we all post our names, childrens names, condition and symptoms as well as any prognosis and drs who have been helpful in your journey to better understand this disorder.
harpfam Message
10 Apr 2010, 01:33 PM

my e-mail is if you would like to talk about the micro-duplication. Our daughter will be 4 in July and she is still not walking or talking, she was diagnosed in Oct. 2008. Thanks for joining our group of parents and maybe together we can support each other. As you can tell there is very little information regarding the subject matter.
amh259 Message
19 Apr 2010, 11:25 PM

Hi Emma My name is Anna and I plus my 3 children all have 22q11 duplication. We found this out about 5 years ago and I am now finding more people and information on this. if you have any questions on this please feel free to cotact me I have gotten most of my information before very recently from my childrens genetic counsler. Oh and all 3 of my kids are affected diffrently than each other and have many diffrent traits from this.
amykirk Message
29 May 2010, 01:06 AM

Anna I am wondering how having this dulication has affected you throughout life, if at all. My son has it but my husband and I do not. He is about to turn 2 and has delayed speech. If you could give me any information I would appreciate it since there is not much literature out there regarding this. my email is Thank you so much ! I would be happy to answer any quesitons you have! Amy
suzie5282 Message
18 Jun 2010, 03:08 AM

Hi all, New here. My son Jared has 22q11 micro dup. We were devasated when we found out but we took a proactive approach. (no one else in the family has it) 1. he is the same child he was yesterday 2. there is very little research on this so no true plan everyone should follow. CHOP has a clinic but said he did not need to be seen by them until he was 13 3. the ceiling is the limit and when we hit it we will stop pushing. With that said here is where we are. First year was very rough – reflux, heart problem and lots of crying. At 12 m he was thought to be deaf! After a BEAR (sp?) test it was found he had all the internal networks to hear and tubes may clear the problem and they did. He was fully tested at 2 for all abnormalities assocaited with 22 and all is well minor heart problem found and it repaired itself within a year. Jared is now 7 years old. Until about 4 yr he had overall delays. He has had speech therapy since his was 1 and Ot until he is 5 1/2. He had many sensory issues as a small child today he has a few but I am good an making them appear normal. He went through early intervention and preschool disable program in our local school district. At age 4 1/2 I decline his IEP because his teachers were telling me all the things he could not do. I enrolled him in private prek through 8 school and he is flouring there. He is seen as a typical kid but academically he is at the bottom of the pack. He struggles in school with reading and writing but does excellent in math. This year I had him reclassifed and he started speech in school to address his auditory processing delays. He school was unaware of the 22q until this year when I turned over his neuro developmental records. He has behaviors but nothing off the richter at this point from the outside he looks like a typical boy with a short temper — I know it usually due to sensory concerns (other kids in his space, too loud etc) and we are addressing them. This year his neuro recommened trying ritalin (Jared is not ADD or ADHD). She says there are studies that show it helps with auditory processing. We place him on the med for a 4 wk trial with out telling the school and at the conference they informed us how much he has improved over the last month so I guess it works for him. We removed him from the med for the summer though. We are also experimenting with The Listening Program not sure if it is or is not having a positive effect but no negative either we are currently on week 13 of the 20 week program. That is a quick summary. Jared newest accomplishment he was able to swim in deep water with out a life vest on. He has known how to swim for approximately 2 years but refused to lose the vest. Yesterday I insisted it come off. I required him to swim 3 time from the deep end to the shallow end with me at his side — he cried he yelled but he made it each time. After 5 minutes of self calming he decided to practice some more by himself. Today he boasts that he taught himself to swim yesterday and will even jump off the diving board without a vest on. AAAH the beauty of sensory issues!!!!
mother1991 Message
21 Apr 2011, 04:07 PM

Hi all, My son is 19 and he recently had his chromosomes checked and there showed micro duplication on chromosome 22 and micro deletion of chromosome 2. He is getting further blood work this next week with me and hopefully my ex will agree to it as well. My son seems to have the symptoms with this disorder. He has learning disabilities with discrepencies in all areas, cognitive delays, speech delays both receptive and expressive, central auditory processing disorder, and ADHD. He is of short stature and did not grow for the longest time, he had chronic ear infections and other infections when he was younger. He struggled in school and did not start to talk until about 3. This is when he started speech therapy. It seemed for the longest time learning and speaking were so very difficucult for him and expressing his feelings were the same. He has good coordination. Promising to let you know, he has made so much progress especially his last 2 years of high school and still gaining ground today. When he started high school he was still having difficulty with basic math, could not write essay on own, very difficult in reading was at 3 grade reading level. He still had some difficulty in articulating his thoughts in a more concise manner. He was always intelligent though. He is and still is a visual learner but better at auditory now. His hearing is normal. Today he can read at 6-7 grade level, has completed algerbra, can write on own a 5 paragrapgh essay on own, can speak and argue points with anyone, very verbal, he has a part time job where he does cooking, taking orders, delivering orders, training others, cleaning, he is organized. He has his own bank account and has not overdrawn his checking account, Makes his own decisions, very independent, no meds for the ADHD ect. He surpassed what I thought would be his potentional and others as well. Our children bloom at thier own pace and so ones own expectations are not neccarily the childs capabilty and that they can continue to grow even past the point where most would say they are at thier potentional. My son has very severe delays, it took lots of work, patientience, thinking outside the box, giving him as many experiences as possible and not really treating him any differently than other children except for some minor accommodations. He did take meds for ADHD but in 5th grade wanted to try without it and he did well. He also had some aggression when he was younger and at times still today but with learning self soothing techniques and other techniques to help he does fine. At times even calmer than me. We will know the reults of the additional genetic testing in a couple of weeks and i will post back when i do know. Just to let you know things will be better than they are now, just take one day at a time, be the best advocate for your child, push them gently and challenge them but most importantly believe in them.
mother1991 Message
21 Apr 2011, 04:17 PM

I did forget to mention he graduated with his class last june at age 18. If you see him today can not tell of the disabilities until you get to know him more. Even then it is mostly with reading. I always thought maybe genetic testing may help but was not done when he was younger but even as he got older it was still in its infancy. We were lucky because last year i was diagnosed with a genetic condition and my son was evaluated for it. Turns out he is very mildly effected but the geneticist offered to have his chromosomes checked and my son agreed. we did not think anything would come of it but there were abnormalities. I am grateful because this way we know, and if it runs in the family then we can let other family members know so that they are aware of it as well and if any of thier children are showing any of the signs then they can be tested and maybe help in the further understanding of micro duplications on chromosome 22 and better understanding of the disorder.
crigglesau1 Message
7 Jun 2011, 11:25 AM

HI all.... I am Chrys from Australia. Our daughter Teigan was born in 2001 and we discovered a week after she was born she had a congenital heart defect (Tetralogy of Fallot), which she had open heart surgery for when she was 6mths old. Just before she turned 3 she had a bi-lateral re-implantation of both ureters due to urinary reflux that had been treat with preventative antibiotics for almost 2 yrs prior to surgery with little success. When she was 4 she attended speech therapy and they diagnosed Auditory Processing Delay. She also had 4 sets of grommets in both ears by the time she was 6yrs old, due to fluctuating conductive hearing loss. She also suffered from Encopresis for many years, asthma, and general anxiety. She struggles with most peer relationships, and only has a couple of close friends. In general, she does OK at school, but takes a little longer to understand new concepts. With all this going on, we requested the advice of a geneticist just to rule out any syndrome/condition that might link everything and give us some answers. This is where they discovered she had a chromosome abnormality and they needed to do more testing. Finally, she was diagnosed with a chromosome 22 q11.2 duplication of 5mb. Both her dad and I were tested and it showed he also has it, yet no one else in his family does. His duplication is not as large and the only things he has in common is that he needed speech therapy as a child and had encopresis....however, I believe he also has auditory processing delay that has just not been diagnosed. (and no I am not just saying that as a wife who is annoyed with her partner for whatever reason....he displays many similar traits to her with her APD) The geneticist could not find much info about it and began to use her as part of a presentation he was doing in the UK. From the info he has given us, it appeared that she has one of the largest duplications found at this stage, and that many of the cases were very similar in that the affected parent didn't have many symptoms yet the child did, and of the photos he was able to show us, there were many similar facial features as well. I guess, I am just wanting to know how this has affected other people, if there are other 'symptoms' that can be attributed to this duplication etc. Any info would be greatly appreciated. Thanks Chrys
mother1991 Message
27 Jun 2011, 11:24 PM

Update The Microarray-CGH is positive for both chromosome 22q11.21 or .23 duplication and and chromosome 2p16.3 microdeletion. The latter I also have and have been told this is very rare, but do not really know anything on this. My son will have a cardiology consult because he also has Ehlers Danlos Syndrome which is a connective tissue and collegan disorder. Some of the extra reading I have done on Chromosome 22q11.2 duplication has some heart issues too so this will be good for the evaluation. He does have high triglycerides and low HDL which i am not sure may be linked partlly with with this disorder or if it is genetic in other modes. He is doing well and working fulltime now. It is still hard for him in some social situations where he does not talk much and is a bit of a wallflower. The speech issues still are there but not as significant as when he was younger. We do see the geneicist at UCLA at the end of July t go over in detail the findings of both of our genetic testing. I would like to get as much information on this disorder as i can before his cardiology consult on heart and cardiovascular issues to look for or be aware of that may be there or develop as he gets older. Also I want to know if there are others with children around my sons age and the experience of childhood to adolescence to see if similar in any way. Thanks Christina is my email if anyone wants to share in more detail. Any and all information will be beneficial.
sonyasalinas Message
29 Jun 2011, 04:23 AM

Hi Emma, Our son is 3 years old and has 22q11.2 MicroDuplication Syndrome. We live in AZ and not one Dr. could give us any information about it. Our son was born with a cleft lip and palate, which we thought was the only deficit he had, we were wrong! He didn't cry like a normal baby, couldn't eat either, he has dysphagia, hearing deficit in left ear, articulation disorder, expressive language disorder, selective mutisim, VSD, a rare metabolic disorder, asthma, sensory processing disorder, and the list goes on... However, we did seek help from many hospitals and universities in U.S. and were turned away time again. Children's Hospital of Philadelphia is the only hospital in world who has treated more than 30 patients with this syndrome, we are going in Sept and will spend 1 week there for a series of 16 appointments with several specialists, the specialists will give us a treatment plan to bring back to AZ... I wish you and your family the best.... Salinas Family
kaylabrasher Message
8 Jun 2013, 06:33 PM

hi everyone. my name is Kayla. and I'd like to share my story. it started in high school when I first realized things going wrong. most of growing up, people noticed me as very strong and always doing things. but when I started growing into a young adult, I noticed I was having issues with my strength, breathing, heart rate, spasms, stomach, and my weight. but I never knew why. at the end of high school I stayed most of my time in bed sick and I believe that I may have suffered seizures. my parents never paid attention to take me to the doctors so I didn't bother asking them. they would just laugh like they did to my older sister. well since I was sick I chatted a lot online and one day met a sweet man named ray (who is now my husband and a father). we had chatted for quite a few months and when I graduated high school, he came and got me. he drove me from Pennsylvania to Alabama and the ride was terrible. he was trying to help me get better from then on. I couldn't really eat so he bought me a lot of ensure nutrition shakes. and when the shakes started helping manage my weight I began to start eating again. not much, but I was. what I hated the most were all the pains and spasms I would get. I had begun having pain since maybe 11th grade. that's when I started wearing braces on my wrists and ankles. they help a lot but I wish I didn't have to wear them for the rest of my life. well anyways, a few months went by and I started hurting a lot and felt so nauseated and spasmed worse. I went to the emergency room 2 days before my birthday. that's when I found out that me and ray were gonna have a baby. I was 6 weeks pregnant. but they told me they couldn't do much for my pains or anything. so they told me to start making appointments. as the pregnancy went on I had nausea medicine all the way through and some iron medicine and I kept getting sick from the prenatals so I took gummies and my shakes. the pregnancy helped me eat better and gain weight and things went fairly well. they were worried with all the spasms I kept having but no one could figure it out. one of the nurses came in one day and said that they seen some dysmorphic features to my face. they got me an appointment in the genetics building to find out if there are any growth problems they can find. they had to do a big test and when the results came back they told me about the disorder. they aren't sure either if every symptom I have is related but at least I knew why I was so sick. and since it was so late in the pregnancy, they said I have to bring my son back after he was born to take the test. I was worried to death if he didn't make it because of this disorder. they also said that it's 50/50 chance that our children will or will not be born with this disorder. they said if they tested him near the due date, it could possibly cause early labor so I waited. when he was born he did very well. and my motherly instinct told me he had it too. it tells me what is wrong with him even now. after a couple months we got him tested and I was right. my son's name is Dillan and he is turning 2 this month. I think the pregnancy had saved my life. I just kept getting better after that. I still have trouble keeping all my issues maintained but at least they become minor enough so I can help my son with his. he's growing up so well. he has therapy every month and we do it every day together. I have to watch what products I use for him. he shows most of the same symptoms that I have so I know how to help him. he has trouble with speech and motor functions and anxiety. he also has muscle tone issues which I hope he won't have to wear braces one day like me. if you'd like to contact me and talk sometime, you can add me on Skype. my email is send a message so I know who it is and tell me you're from