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

Tuesday, July 29, 2014

The color Blue.

I have been taking some time to actually "work" these last few days and my house can prove it! I also want to spend a little time on here-keeping Asia's journal for her. I can clean when the kids go back to school right??

"Asia" moments. Found her trying to make "toast", several slices and her hands in the toaster-AHH! Seriously and thankfully it was unplugged. I was also doing dishes, you know how you'll take dirty dishes out of the sink and set them on the side to load into the dishwasher...she walked up and drank out of one of them-and said "mmmm". In horror I looked in the cup and ya, I should have be terrified. A thick sludge was in the bottom of the cup, I can't even think about it anymore. She isn't sick though....

It's impossible, let me emphasize "impossible" to paint Asia's finger nails. She always wants it done and I rarely do it because I know it will be a enormous mess. It has been awhile since I tried so I thought we could. Maybe she has the ability to sit still longer or have more patience, I was thinking optimistically:)  I asked her what color she wanted a couple of days ago, and she said "blue". WHAT? Blue? First of all she knows the word "blue"? Does she really like "blue" or is it a word she knows? I have always told her that her favorite color was purple because I didn't know! I will say blue now:) So I got the blue out and she shook her head yes-awesome right?! One of those moments that was amazing to me and to anyone else it would have been so normal. So we tried, complete failure. I did one of her hands, tried to use a blow dryer and hold her hands down so it could dry. Still a mess. Yesterday I went to the store actually looking for quick dry polish, I wish there was a "healthier" alternative but this was not going to work with out it. I also got a quick dry spray. I was determined to do this for her. For some reason, the "blue" took waaaayyy longer to dry and she grabbed the polish brush with her hands and wouldn't let it go, needless to say it was everywhere. But, it was a lot better with the quick dry polish! She only got two blue nails though. I will have to do it when she is asleep.
Asia had a EEG yesterday. Asia actually likes going to the doctor. She asks to go to the doctor sometimes and I wonder if she really doesn't feel good or if she just wants to go. There is no question that when she goes to PCMC she gets spoiled, I think she expects blankets, toys, books etc. now when she goes. So grateful for all of the staff and volunteers that have made this a good experience for her. Asia, her Dad and I got a 30 minute nap after a series of strobe lights in her face. I couldn't watch-they give me migraines. I hope we got what we needed, I will update on results!
 We told her she was getting her hair done-it worked. I am positive she would have ripped them off though if I wasn't holding her hands. New adorable blanket! She was given a choice and she picked it-I love the decision making!

  Hair after we were done-love the style:)

I had the CUTEST moment with her when we were eating afterward-she even picked a blueberry muffin out to eat and ate it. She was offered bites of our food but she didn't want them. Sometimes I think we forget that she really does have a mind of her own. Asia is so amazing when we are one on one-I think she enjoys it as much as we do. She is well behaved, engaged and has so much fun. Anyway, she was trying to tell me something. I was trying SO hard to figure it out, it probably took me 5 minutes of throwing out words. She would look at me in the eyes and say a word that could have sounded like "doctor", "closet" etc. and I just couldn't get it. Finally, I looked at her in the eyes and said "oh", with a smile on my face and I said "chips". She started laughing and threw her arms around my neck and gave me the biggest hug, I don't think it was because she was going to get chips I think it was because I figured it out-and "duh" I should have guessed that word in the beginning. She was so excited about it-happy that I "got" it, and I did get her some chips:)

Friday, July 25, 2014

Breaks are hard

I have said it many times...but I'm serious. Asia does so much better during the school year. Breaks are hard on her. Even though she is in summer school ESY, which runs 3 days a week for a few hours it's not enough and it ends next week. It's like she doesn't know what to do with herself. School gives her a routine, a challenge, excitement and home is "boring". It's hard for us to go out and do things right now. With little ones at home and Asia acting like a 2 year old most of the time we can't go anywhere unless Dad is home to help us out. Swimming or parks are virtually impossible, she runs one way and my two year old runs the other. I have to do things with them one-on-one, so that requires finding sitters. So in the home, she is the unexpected tornado that whips through and destroys everything in sight-and she finds it funny! Argh! She dumps out the cereal boxes, rips the wallpaper off her walls, she starts things in the microwave (things that should never be in a microwave), she tears up books, empties the fridge and cupboards, throws stuff in the toilet, she colors on the tile floor, she'll get 10 slices of bread and smash them in her hands, if the door is unlocked she'll run away, she doesn't understand what "glass" is.... and really the list could go on forever. You have to watch her like she is "2". She only ever wants my phone, to look at the pictures on it. I wish she would find a new interest. I just hate having her sit all day on the phone. She flips out when she can't have it.

She brings me back to the reality of her syndrome when she tries to eat things she shouldn't like the flowers outside, soap or crayons, throws her plate of food at you or dumps out her drinks, I hate to admit that this has now happened three times but if I step out of the room while she is bathing she finds the toilet plunger to bathe with-ahhhh, I can't think of anything more disgusting, can you!  She is not sleeping very well? We had to replace her french door on her bedroom to a regular door for fear of her breaking it-she bangs on her door with her hands or toys to try and get your attention in the middle of the night. There are some nights I am surprised if she gets more than a few hours of sleep. Not sure what is going on, maybe it is seizure activity. Most summers I am sad when school begins but this year I am so ready. I can't get a single thing done right now-my 6 year old will even be in school all day:) After all of this, life with Asia is still better than it used to be:) At least she is more pleasant, happier and she now will walk up behind me and give me the hugest hugs and rock back and forth making a humming sound. She says "love you" and want you to hold her like she really is "2". She even initiate kisses-which is so sweet. This all helps when I am pulling my hair out.

Thursday, July 24, 2014

Where to start....

To be honest, I am not even sure where to start in order to catch up. I will start with now and I will try to be better...Summer 2014 and doctor's appointments.
The last few months have been completely chaotic with events that I can not go into detail about right now but lets say it has been one of the hardest times in my life. I will focus on Asia. She really has had such a great year! Biggest improvements were noticed when she was completely weaned off of Topamax! The girl got her appetite back and has gained over 10 pounds! Her pediatrician at her last appointment was flipping out at her growth chart. She went from always being in the 1-3% tile in weight to the 22%! The graph they print out went from a  tiny zig-zag to a line going straight up. With this I have noticed more energy, strength and she does not get sick as often. And then there's the speech. Wow, the speech-people are in shock. She still does not "talk" but she tries so hard, she makes conversation and says new words all of the time. I am so hopeful that she will keep progressing. Also, the behavior has improved. We can go somewhere and be pretty confident that she will not flip out. Many have commented on how calm and happy she is. These things make the world of difference in day to day life-I can't wait for the day that I can take her off of Depakote!

On the other hand...we weaned her off of Topamax because we didn't notice many seizures in the last year. I may have been wrong. What I have been noticing though was happening before we weaned her so I don't think weaning her had any effect on seizure activity. Last school year, I would randomly get a call from her teacher or the bus driver telling me to come get Asia she has thrown up. Bummer she was sick but ok and I would go get her. The same thing would happen at home here and there, she would throw up but I was confused at what was wrong because she didn't seem sick, she wanted to eat right away and no one else would be sick in the family. It wasn't until a few weeks ago I noticed her eyes looked weird. Kind of half closed sometimes, looked like she may have a headache but then they would go cross-eyed or one would drift out to the side. She would start acting a little strange, even put her hands to her head or face and guess what, she would throw up! Have I been missing the seizures?? Migraines? Seems impossible when I have seen so many and so many types but nonetheless we have a EEG next week and a Neurology appointment.
The EEG is only the hour long one, which we never seem to see anything in the hour EEG-really it should be overnight but we will give it a try. If she is having seizures it only gives me a push to start her on Charlotte's Web-because as of July 1st it is legal you know:) I also hope this will replace her Depakote as well.

The poor girl has to get ear tubes again. Her third set and I thought by age 8 she would be over them. She has not been passing her hearing tests on the left side which is her good ear. We suspect there has been fluid in her ear since at least February-could have been longer? Hey, maybe this will help with speech too?

New braces are ordered for her ankles too. She out grew her last ones which we had cut down to be just a foot plate and watching her lately (maybe it's all of the new weight) she is not walking real well. One ankle is pronating quite a bit (bending inward) and she seems a little off. This is a new brace, doesn't cover the whole sole of her foot so it gives her some freedom for flexibility and then just above the ankle. It may be a good option, unless it helps her to run away faster:) I think its a new product so I will post a pic when I get them in.

My summer has unexpectedly filled up with doctors appointments. I guess I may as well do it before school starts right?

I am also going to mention this-because I didn't know and it could have saved me thousands of dollars over the years. Right now Asia is on Disability Medcaid. Someone mentioned she may be able to get diapers covered under insurance and guess what? I just got my first months supply delivered-I am a little shocked. I really had no idea. She has out grown diapers so they are a pull-up but that helps out a lot!
Aside from the medical, she is finally starting to tolerate the pool, Yay!!! She doesn't mind getting in for a little bit-she has every year past.

Saturday, July 19, 2014

Asia can ride a bike?!?

I am terrible at blogging.....I have been so busy with my other projects that I have not made much time to post updates on Asia and I feel guilty every time I think about it. I guess I shouldn't feel bad? Things are busy but I feel sad because I want to document those things that Asia can finally "do" or updates on her health or syndrome. To share info that might help know. I will catch up on some of them soon I hope. I also kind of figure anyone that looks at this blog is already involved in Asia's life somewhat and already knows about everything I post, right:)? I definitely want to share this. Remember last year, Asia was gifted with a special needs "bike". She was no where close to being able to ride it. She couldn't pedal, no muscle strength. I really hoped that someday she could. It would be amazing if she could ride along her brother outside and actually "play" like a normal child. Well, this year we pulled it out and guess what? Asia can ride her bike!?! I was utterly in shock. She doesn't have steering the bike down yet but I don't think it will take much time. She was in bliss and I teared up, happy tears.

Saturday, July 5, 2014

Angels Hands Annual Event!

This is such a fun event! July 19th Murray City Park. Hope to see you there!!