I see there is only one other member here. We just had a microarray test for our 12 yr old and found she's missing part of Chromosome 1. Wish there was more out there about this. Would like to compare notes if you want! Thanks.

Hi Taximom would be glad to share. As far as I know there are less than 30 people with Kims deletion.She is autistic, mentally handicapped, she has a mitochondrial disorder and she has a trach. She is non verbal but can understand most of what is said and can communicate in her way. She used to have seizures but has not one in many years and is off meds for that. Tell me about your child if you wish. Kim is 33 how old is your child..

Hi! I was hoping you would still be around! My daughter is 12 yrs old now. She has epilepsy, but fortunately meds are holding seizures back. She has extreme ADHHHHD (ha), and takes medication for that so she can focus and settle down at school and home. I think they tested her for mitochondrial issues a long time ago and found nothing. They've done MRI's and CAT scans in the past, and everything was basically normal. She has vesicoureteral reflux, which is basically urine backing up from the bladder into the kidneys. When I got the most recent microarray test results, I of course tried to google as much as I could, and found that there are a few links to a specific gene on that part of the chromosome for that reflux. Isn't that interesting? Kind of scary though, because there are a lot of genes on that portion. :( We live in Ohio. Where are you? Oh, Emily is non-verbal too. She understands us for the most part, and we are trying to get her a device to use so that she can push buttons and talk. They are SO expensive though. I'd love to hear more about Kim!

Oh, and she is fairly severely behind cognitively. She is 12 yrs old, but probably cognitively in the 3-4 yr range in most areas. Still working on letters/numbers/colors etc. :(

Try your Office for Citizens with Developmental Disabilities or whatever its called in your state. They should be able to help with the augmentative communication device. Some states have agencies they contract with or that are private that work with the state to payfor communication devices. They dont have to be on medicaid to get help. Kim had one paid that way. We live in Louisiana where services are not great so maybe your state will do a better job. It depends. if your daughter is on Medicaid or Medicare or you have private insurance thats a route to go too. Talk to the companies you are interested in and they can help find funding too. We got ours from Prentke Romich but there are other ompanies out there.

Hi Wildeerth, Is John your son? Is he also missing part of this chromosome? I think it's neat that they can find out this stuff about our genes now, but also kind of scary since so much is still a mystery. Thanks for the info, and take care! P.S. Hi Nightsong!

So glad to hear from you! Glad John is doing better. Kim is too. We had a rough couple of years but she is really doing a lot better lately.

I have just found this site. My son is 8 and has 1p13.3p21.1deletion. He is non-verbal, has epilepsy and is incontinent. I haven't found any similar conditions before. I am in Australia.