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

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.

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