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, February 7, 2013


Asia went to the dentist today and these appointments have not been very fun in the past. I get a little nervous because she has bitten the Dr. and his assistants, tore up her paper covers, thrown stuff, screamed you know the drill...She doesn't even like her teeth to be brushed at home let alone examined by a dentist with instruments. I think part of the sensory problem she has must somehow affect her mouth. She grinds her teeth all of the time (they are getting so worn down), chews on her tongue, wants to chew on her clothing or the chewy tubes she gets at school, she is very very sensitive. I try to keep up on these appointments because the seizure medication may damage her teeth and right now I am so worried she is going to start losing her teeth!! How will I know?? She bites my fingers if I try to feel them and she wont know if she has a loose tooth. I guess if she swallows a tooth it wont hurt? Today though, wasn't so bad. Maybe because it was after a long day at school and she was tired? Curious George overhead may have helped as well? She unfortunately has a cavity that we are going to have to fill because it is a molar she will still have for awhile. Her dentist is great and is going to try to do it first and if she wont hold still enough we will have to go another pediatric dentist who can somewhat sedate her....I guess we will see in a couple of weeks.

I thought we were going to start of grumpy...

But she did a really good job today...

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