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

Wednesday, March 6, 2013

Sing to her

Feeling guilty about something today...this morning I went to awake Asia for school and there was the most intense "disgusting" smell in the hallway before I got to her room. I was fearful for what I would find:) She has a glass door so I can see her in her bed and she was asleep all tucked in nicely so I figured she had soiled herself and was a mess but what i didn't expect was that she threw up sometime during the night and was sleeping in it-I felt SO bad! It was hidden all under her covers. I didn't hear her make a sound last night and she didn't come banging on her door. She didn't appear sick yesterday or all day today? I did keep her home from school just in case but, many times this school year she has thrown up once during the day and then just fine after that-I'm not sure what is going on but yes, I did feel bad I didn't know. What a miserable thing for someone to be stuck in and yet again, she never seems to notice anything wrong in those types of situations. Never shows a desire that she needs to be changed or cleaned up. I hope that changes someday.

Other notes:
~She loves to be sung to and thinks it's hilarious when you replace words in the song with her name"Asia":) Got her out of a bad mood a couple of times today.
~She is liking food that is soft lately like mashed potatoes, squash, avocados etc. Spits everything else out.
~Pulled out a huge chunk of little bros hair (poor guy) and screamed quite a bit.
~I must have done something right today because before bed she put her little hands around my neck and gave me a kiss goodnight:):) Love that!


  1. I just stayed up until 3 reading your blog. I think it's a great idea! Do you know if there is an organization dedicated to this type of deletion?

    Asia is so lucky to have you!

  2. I have found a couple of great groups with families who have children with the 2q23.1 deletion. I have a link at the bottom of the blog with one and FB is the other. Not much out there yet but, that is what all of the "awareness" is for-try to find more people in the same situation and help people that dont know what their children have to figure it out.