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

Sunday, November 10, 2013

Parent-Teacher Conferences

Usually I don't have parent teacher conferences with Asia and her teachers, this is because we have the yearly IEP's and we cover a lot of information in that meeting. The teacher usually asks "do you still want to come in for a parent teacher conference?". Both teacher and I thinking we didn't need to have one-I never did. I sound like a bad mom saying that out loud! This year the school office set up the appointments and I never really spoke to the teacher about it so I was "sure" let's do it. I have been DYING to share something-Asia has finally passed a "goal"!!!! It is going to seem so minor, so insignificant, almost a joke when I share what the goal was but, I actually got a little teary:) I don't know that Asia has ever passed one of her school goals, and they are not difficult. When she was in kindergarten I felt like some of her goals were a little to difficult for her situation and I actually changed them to very "easy" tasks. Even at very easy, she has never passed them. The goal was "Move 10 objects one at a time from the table to container".... I know I know easy but, she couldn't do it. This year the teacher said, Asia is now beyond this goal, she does it without even looking at the table sometimes! Yeah! I couldn't believe what I was hearing-a teacher has never said something like that. This is progress! A couple of the other goals that she has had for years now are "walk the length of a balance beam with support under one arm at least 4x per class session without stepping off the beam"-I asked her to change this with the PE coach. With Asia's disability I don't know if she will EVER get this goal. She is very unbalanced and uncoordinated so I don't want to set her up to fail. She physically may never be able to do this goal. Another goal we need to change is using stairs. "Walking up and walking down stairs while alternating feet and holding onto rail". We have stairs at home, our bedrooms are upstairs she uses them all day long. She also gets "stair practice" on the school bus twice a day. She's getting plenty of practice with this one and will get better at it in her own time...

Asia's teacher and bus drivers last week both happily reported how much "conversation" Asia has been provoking. This of course is in her own "unclear" use of language but, WOW! Love this kind of report. I myself have probably heard at least 2 or 3 new-fairly clear words this week. One of them being "eyeball"- (Halloween prop-that she repeated when I said look Asia it's a "eyeball"), and "Arthur" on her iPad being another. She is doing so great right now.

Sadly, last week I also got reports from the bus driver of Seizure activity and noticed some at home as well. It makes me wonder what I am missing during the day when I don't see her. Being epilepsy awareness month- I have just found a way to try and track her seizures and want to share, it is called Seizure Tracker. I wish I would have known about this a long time ago!! It would have helped so much for those doctor appointments when they ask frequency, medication, etc. When you go to the site you create a account, and from there you can log medication info, appointments, log seizures and so much more. You can also, print out graphs. This is a great tool! The most difficult part for me is really tracking these seizures. When she is at school all day long, I really have no idea if they are happening. The best I can do is ask the teachers to keep a eye out.

Here is the link:

What's in store for you on Seizure Tracker  
Free and easy to use online anywhere. Click here to set up a new account.
Log and track seizure activity, appointments, and medication schedules through a simple calendar interface from your computer or mobile phone.
Download printable seizure logs that correspond to the website.
Customized reports which include graphs comparing seizure activity and medication dosages. View Sample Report

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