Hi found out some months ago that my son has a small deletion on chromosome 1p13.3 His symptoms from a early age were delay in crawling and walking..he crawled at 11 month and didnt start walking til 15 months. He suffered seizures for a year and also has a severe speech delay( has the vocab of a 20 month old) we attend speech therapy and use makaton sign language with him. Despite all these things he is a very happy little boy! Was wondering if anyone elses child has similar symptoms of this deletion?

Hello..my daughter is 8 months and we just found out that she has this microdeletion. We are just beginning the journey so I don't know a lot about it yet. We are meeting with the Geneticist at the end of the month and she has an MRI scheduled. We are starting OT and PT. I can stay in touch with you though and give you updates. My email address is hcabney@yahoo.com. Sounds like you're doing the right things. When did he start having seizures?

Yea of course my email is amwatson1@outlook.com My son start seizures few weeks after his 3rd birthday. Were very scary he would stop breathing and vomit after. He had mri and eeg done all came back normal..had bloods taken at same time and only got results back few months ago which is when the deletion was discovered. When/how did u find out about ur daughters deletion?

Sorry that was meant to say 1st birthday

We noticed at 6 months that was not hitting milestones, like rolling over or sitting up. And she still can't. My uncle is a retired pediatrician and recommended that we see a neurologist so we did and he ran a blood test. The nurse told me that over the phone but said she had no idea what it meant and referred us to a Geneticist. That was 2 weeks ago and her appointment is on the 27th. I have had no idea what we are dealing with. My daughter seems fine, very happy, coos and babbles back when spoken to and laughs at her brothers, she is very aware. She is just very weak but is getting stronger all the time. Hopefully physical therapy and occupational therapy will fix that. Is your son in PT and OT? Have the seizures stopped? There is hardly anything online about this except that it is rare...

Its very rare..i heard that there is only about 30 known people in the entire world that had this deletion..so our children are very unique

Sorry rest of my msg dosnt seemed to have came up

Our son only attends speech therapy..was was late with crawlibg and walking but when mastered it was fine. He not had a seizure in 15 months doc hopeful they have stopped for good but cant tell. Where are you from? Have docs been informative?

Try not to worry too much..when we 1st heard he had an chromosome abnormality we felt like our world came crashing down. But doc seem hopeful in time his delays will be caught up with other could be good few years down the line tho. We love him just as he is..he is a lovely little boy he tho he is a right rascal at times!

Try not to worry too much..when we 1st heard he had an chromosome abnormality we felt like our world came crashing down. But doc seem hopeful in time his delays will be caught up with other could be good few years down the line tho. We love him just as he is..he is a lovely little boy he tho he is a right rascal at times!

Wow ur son has been through alot bless him! Does he use any speech? How did you find out about your sons deletion? X

Yes. Kimi was not only late with motor milestones but out of order which really drove the developmental psychs nuts. She walked before she could sit up, had no righting reflexes so when she fell, she fell like a tree. Language was not delayed but she never repeated anything you said or repeated when asked. At three she lost all language and now only uses a few words. Kim has seizures. She started with febrile seizures as a baby, then partial.On meds she stopped having seizures for several years but had toxic reactions to tegretol and valproate. Meds were stopped for a year and the seizures returned . We are struggling to find one that stops the seizure but doesnt cause side effects. Do any of your children have SLC, KCN or GSMT genes missing and also reactions to medication?

My son was never put on meds for seizures he had about 6 but he has not had one for 15 months so we hoping they have stopped for good. Seems that every child that has this deletion has some similar but not identical symptoms.

Thank all of you so much for sharing! We are just getting started with all of this. Right now all we know is there was a Microdeletion 1p13.3. She is not hitting milestones. I think it is awesome though that everyone is sharing!

I think it is great that we are all sharing. Thank you so much!! It is really shedding some insight to all this and can hopefully help others too!!

We live in the US, in Texas, next to one of the best children's hospitals in the US. However, ever since this news I can't sleep or eat. I teach 8th grade ELA and it is my break. It is all I think about. I just want to know what I'm up against so I can be prepared. I'm very solution focused. Can't stop crying. Can't relax...when I am alone.

Are you a believer wildeerth? I believe the Lord Jesus died for our sins..and will one day come back to take those who believe home to heaven. My faith also has been my strength thru all my trials. Love the verse: Trust in the Lord with all thine heart and lean not on your own understanding, in all thy ways acknowledge him and he shall direct thy paths

P.s we live in Ayrshire Scotland UK

Absolutely!! My faith is my rock. :) I know He does not give any of us more than we can handle. It is all very new right now but will be ok. Thank you all so much for the encoraging words!!

Felt upset today seeing other kids the same age as my son talk in sentences..does that make me bad?

No. I don't think so. This is hard. And it is normal to feel that way. Just try to focus only on your son and don't compare. My daughter will be 9 months old next week and still can't sit up or roll over. But I'm trying to not even look at babies her age so I don't go crazy. Take care of you!

Hi, I hope everyone is well. I was wondering if any of you are on facebook and want to meet up there. I could set up a private group for just us, nobody else would see the posts. This forum is so hard to navigate and keep up with, in my opinion. I'd like to see how everyone is doing. My Emily is almost 17 yrs old now! We found out about her deletion when she was 12. She still has seizure periodically, and meds help. She still can't speak clearly for the most part, and uses various ways of communicating plus her ipad/TouchChat app. I hope y'all see this - it would be nice to catch up and see how everyone is doing! This is my FB page - hope it works https://www.facebook.com/becky.brown.73932 and my email is bab962@yahoo.com if that link doesn't work. Thanks, and blessings to you and your children. <3

Hi yea im on fb under Aimee Watson. My son is 5 now and has just started at a special needs school. He is really coming on well with his speech however still has about 2 yr delay..he has the speech ability of a 3 yr old. He still very delayed with learning he still learning colours and how to count xx

Hi Aimee! I tried to find you on FB, but there are several with your name. This is my FB link, so send me a message there if you can? I have set up the group. Nobody is in it yet. lol Thanks!! https://www.facebook.com/becky.brown.73932 If anyone emailed me, I haven't seen it. I don't check it often. :/

This is the FB group I started for just us. Please click and then ask to join or be a member. It will be private! https://www.facebook.com/groups/176616986079599/