Chips, Cheese and Sometimes Marshmallows

Life with 2q23.1 microdeletion syndrome (chromosome 2)

Chips, Cheese & Sometimes Marshmallows? What? Let me explain, if anyone knows my daughter Asia this completely makes sense:) Not only do we have many medical issues but, food issues are one of our major daily obstacles. You'll see...

Asia's List of Symptoms (2q23.1)

Whether or not all of Asia's Symptoms are related to the 2q23.1 microdeletion is unknown at this time:

At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances, Short attention span, Repetitive behavior, Aggression, Autistic-like Symptoms, Sensory Processing Disorder (hypo-sensitive), Tongue-tied, Sacral Dimple, Possible Macroglossia (large tongue), Sandal Gap on foot, Constipation, Blepharitis, Hearing loss & Microcephaly.

~This list may be edited with new information~
There are additional symptoms with this rare syndrome that Asia does not have.

Many people contact me to ask what type of testing Asia had to get her diagnoses. Asia had a simple blood test performed which is called a "Cytogenic Microarray". There is a post in the blog that goes over this a little more.

Conact Info and Support Group

2q23.1 Microdeletion Syndrome has a great support group on Facebook. It is a closed group where parents can discuss their questions/concerns about their children with 2q. When logged into FB just search 2q23.1 Microdeletion Syndrome and find the closed group and "join". Also, please feel free to email me with any questions at

Friday, November 29, 2013

Potty Training! Yikes!

Not the greatest topic but, I know so many that are struggling with this with their own children so maybe we can share tips:) Please leave comments with helpful tips! How do you potty train a special needs child who does not talk???

Asia is 7 yrs old and can not use the toilet. I can't even tell you how many comments have been made to me about potty training Asia! It's not that I haven't tried, it is something that has never clicked with her. I felt really bad until I learned how many other children in her situation have had the same difficulties and their ages. So last week Asia started showing some signs of maybe...just maybe-a opportunity for some potty training both at home and at school. Her teacher commented on the same things I was seeing at home. All efforts in the past have been a complete waste of time:) We will try it for a couple of weeks and see what happens. What makes this very difficult is that Asia doesn't even get herself dressed, she has a very hard time even pulling her pants up and down. She is super unbalanced and feels really nervous sitting on the toilet. She does not speak well, for her to tell us something like "I have to use the bathroom" won't happen. I am pretty sure she understands everything we say but she has a hard time following instructions. What we noticed last week is that she would point to her diaper and say "diaper", so we have been changing her when she does this. She has also been watching her baby brother use the potty and so she has started saying "potty" and when she does I bring her into the bathroom. Before she gets into the bath tub I always sit her on the toilet while I am filling the tub with water. I found her in the bathroom one day with pants part way down and she was putting toilet paper in the toilet. So I know she is processing thoughts about it. I have also promised her all kinds of things if she goes on the potty:) Train rides, a trip to the mall with her cousin-and it's funny because she will tap her diaper and say "mall". I'll say "yes, I will bring you if you use the potty":) Treats don't work with her, it's hard to "bribe" her into doing anything:) I think she knows what to do but maybe she doesn't have or recognize the "sense" of having to go? She can have a soiled diaper and doesn't even seem to care? She never shows any sign of wanting to be changed. Over the holiday weekend I thought I would see what would happen if we tried some potty training.

I think a first step is just going to be getting her use to sitting on the toilet. It's not comfortable and she is very nervous-and when I say nervous she often goes ballistic, there is a fear there I don't understand? Her school teacher is amazing and is on-board with the potty training! She is even willing to go to "straight undies" which makes me scared:) She said they would take her every 30 minutes and I just need to send a lot of extra clothing. While we are on Thanksgiving break I thought I could jump start the training but I am starting with Pull-ups:)

Day 1: Trip to the bathroom every 15-30 minutes (unless she was napping) with books and iPad. This toilet seat I have found is a "must have". She is comfortable to sit on her own and doesn't "fall" through-not as nervous. It has a built in seat for children that attaches magnetically to the lid. I found it online.

I could sit her down and show her books or iPad. She didn't like to sit very long and no success with actually "going". I didn't notice anything at all....but just the first day.

Funny story: baby bro is jealous of Asia's potty training:) He is so good at using the toilet if I take him (almost 19 mos old). He came into the bathroom and physically pushed me and Asia out saying "noooo potty!!" I guess he wants to be the one doing it:)

Day 2:  Thanksgiving day, we didn't make it every 30 minutes (too busy) but while we were at Grandma's for dinner she did say "potty" several times and I took her in. Nothing yet...but, I am noticing lots of  "dry" periods between trips.

Day 3: Same routine, trips to the bathroom-we will keep at it!

Day 4: Same thing again, put big girl "undies" on for a minute and she said "potty" -she knows what she is suppose to be doing:) I still haven't seen her "go" yet though...

Day 5: Bought her some new "undies", she needed a bigger size. Girl super hero's and princesses-she was pretty excited about them:) It was a really busy day. It is so hard to focus on potty training when there is so much going on. I know I didn't get her to the bathroom as much as I needed to today. I am so thankful for this little Angel, and all of the support I receive:)

School Day 1: I knew this would happen!!! Guess who only had one accident at school, wore big girl undies and actually used the potty a couple of times-yep, Asia! I didn't get to witness it! Kind of a bummer but I am so glad it happened. We are headed in a good direction. She wore pull ups on the way to school and on the way home. Her teacher and all her aides are awesome. I am sure they were right on top of this-it was use the potty or clean up after a accident. Asia was super grumpy after school today, I hope it is not stressing her out to much.

**Update-potty training is not going as hoped...she has gone one day at school a couple of times and I am now guessing it was just "perfect timing". She says "potty" all day long but, can never go when sitting on the toilet. I think she wants to be a big girl and use the toilet, she knows the "motions" but, she just can't figure it out. She knows the "prizes" I have offered if she does and makes reference to them but still nothing. With her low muscle tone, I wonder if she doesn't have the same kind of "control" or, maybe she doesn't have the "sense". We will keep at it until the end of the holiday break then we may lay off for a little while.**

No comments:

Post a Comment