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 30, 2013

Family Trip, Appetite and Hair Cuts

I haven't posted for a bit! We went on a little family holiday and also my computer crashed....I think my computer crashes more then anyone else I know. I guess it may be because the kiddo's can access it and do who knows what to it!! We have been trying to get it figured out, so I'm temporarily using the hubs computer to post. The hardest part about traveling with Asia is she always seems to get constipated-even with her supplements:( She also gets hot and grumpy-she wants PBS to work on the iPad and it wont because of no WiFi service etc. She can be difficult to travel with...but, we got to spend time with friends and family and spend some time outdoors. We spent the day on the beach and this is how Asia rolls...

Asia wants to lay down covered up on the beach. She is so calm you would think she was sleeping but she is just watching everything that is going on. If you try to make her eat, walk around, get in the water, or play she throws a huge fit but she is good if she can lay down and cover up:) It wasn't very crowded and that always helps her mood.

I grew up in Southern Utah and while we were down there I thought I would try and locate some of my past medical records. I had a illness through most of high school that required lots of testing including a bone marrow test, kidney biopsy, lots of blood work etc. and I was curious to see what kind of lab results were discovered, just to compare to Asia's. I found out that the records do not exist anymore...all destroyed, too bad. I am starting to consider having some genetic testing done. Our geneticist claims that none of Asia's problems are related to us (her parents) but, from what I am starting to hear that may not be the case. I'll let you know how that goes...

~Asia has kind of been a little terror lately. She has started this new thing where she just throws herself down, no matter where she is if she is upset about something. She sits down in the middle of the road, stores, school, everywhere and screams. I am continually having to pick her up off of the ground lately-hope this stops soon. She is seeing the baby as a target to unleash her frustrations-he's smaller and easily accessible to hit on the head (poor thing, he takes it well though). I also cant leave her alone for to long, she empties out all the dresser drawers, fridge and pantry-exhausting! Add this to all the normal day-to-day behavior and I am burned out. Doesn't help that tomorrow is the last day of Summer school...

~I mentioned a couple of posts ago that she wasn't eating very well, and had lost 2 lbs-which is a lot when that is almost all she gains in a year! She has gained almost 1/2 lb back and her appetite has picked back up again. I wish I knew why the change. I am glad that I don't have to find alternatives to get her to eat. She is actually being very unpredictable with food-she will randomly just grab things and shove it into her mouth.I have started setting things out on the counter top just to see if she'll eat it. Maybe she'll eat better if I am not trying to give it to her.  She reached into the salad bowl and just starting eating lettuce with her hands, lol...? I would think that the texture would bother her ?

~Seizures have been good for the last couple of weeks. Her appetite picked back up and I saw a immediate improvement with her seizures...there has got to be a connection right? Dr's may tell you otherwise.

~Asia's Dad gave her a new hair cut. I wanted to finally get some 7 yr old pics done of her and we got her hair done first. She ALWAYS wants to go to the salon and have Dad do her hair. She loves going-blow drying her hair seems to calm her. This pic is at the salon. I have to keep her hair tied up or she chews on it but it is beautiful down...beautiful girl!

~I did take some photos-I will get some up as soon as I can access my computer! There may only be one to use-I have said it before but I totally mean it and will say it again, Asia is by far my most difficult client:)

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