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.**

Friday, November 15, 2013

Asia has been "spotlighted"!

I have to share that Asia has been "spotlighted" on another blog- This Little Miggy Stayed Home. It's a beautiful blog and she has a special section that spotlights a child with special needs. Today it was Asia! I am excited that we were able to participate and always happy to spread awareness on 2q23.1 Microdeletion Syndrome. I encourage you to visit her site-Thanks Miggy!

Monday, November 11, 2013

Asia's Neurologist Makes A Public Statement About Alepsia-CBD

I have to share a letter "we" received today from Asia's Neurologist. It is not directed to "me" but, in a way I guess you could said it is, because in the future it could most definitely be directed to me - more specifically Asia. It is pretty exciting...A few posts back I wrote about  Alepsia and CBD-with all the parent advocates this topic has exploded-this post is a continuation of that. Tomorrow we are attending something pretty big, along with many other parents of children with severe epilepsy-a meeting with the state that I will share more about later. I will advocate for any child that would benefit from this medicine-even if I found it something not suitable for Asia's condition, there are so many children that would have a improved quality of life with it. It could help these children who suffer so much-I will do what I can. Today, Asia's Neurologist made a public statement regarding Alepsia-and I'm going to share it:) He is the Director of Pediatric Neurology at the University of Utah. I hope that other pediatric hospitals and doctor's will take note. I think this was a bold and very respected move. I believe he sincerely has the children's best interest at heart. I encourage you to read this, it explains it all. Remember it is coming from a very well-known, well-respected and very experienced Pediatric Neurologist. Many thanks Dr. Filloux!

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

Tuesday, November 5, 2013

November is Epilepsy Awareness Month

        November is Epilepsy Awareness Month-It's time to get Seizure Smart.

Epilepsy affects my family everyday. Is Asia having a seizure? This is a constant "saying" in my home. We want to keep track for a few different reasons, to record how often it is happening, to make sure she doesn't get hurt and to monitor that "it" is not lasting to long. It's a tough activity to deal with. Of course I am going to spread the awareness this month and I hope many of you will as well! We want as much research as possible on a disorder that affects so many. There is so little known about epilepsy-there are so many types of seizures, and so many causes.This disorder causes struggle in day to day life, physical trauma, injures and takes lives. Treatments and cures are desperately needed.

Did you know?

Approximately 1 in 26 People in the US Will Develop Epilepsy at Some Point in their Lifetime.
  • 2+ Million Americans Have Epilepsy
  • 150,000Annual New Cases in the U.S.
  • 1 in 10 People Have Had a Seizure
  • 65 Million People Have Epilepsy Worldwide

A great resource for questions is the Epilepsy Foundation.

This year they are starting the "Now I Know" Campaign.


National Epilepsy Awareness Month

Introducing the "Now I Know" Video Campaign 

November is National Epilepsy Awareness Month!
As part of our mission to help overcome the challenges created by epilepsy, we're pleased to announce our Now I Know video campaign.
When it comes to epilepsy, what do you know now that you wish you knew sooner?
People with epilepsy and their friends, family and caregivers have until January 15, 2013 to log on to to submit a short video sharing their experiences.
Visitors to our Facebook page will have the opportunity to vote for their favorites and share the videos through their social networks. At the end of the contest, the videos with the most votes in each of four regions, will win iPads, among other prizes.
Select videos may also be featured here on our website and at our National Walk for Epilepsy in Washington, DC. We hope to pool the collective knowledge of the epilepsy community into an easy-to-use resource and to serve as a jump-start point for talking about the disorder with our communities.
Submit your video today to our Now I Know! Facebook app.
Official Contest Rules


 For the state of Utah.

Tomorrow at all Utah Chili's Locations-The flier says the city of Layton but, as far as we understand it's all locations. Copy and print this flier then present it at Chili's with your meal. They will donate 15% to the Epilepsy Association of Utah.