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, January 30, 2013


Teachers have been telling me for years that Asia really knows and likes the "routine" at school. She knows when to do certain activities and when its time to transition or take a break. Something I have noticed at home as well. She knows in the eve when we eat dinner that afterword we get ready for "nigh nigh"-bedtime. She knows when I wake her up it's time for the "bus". When she gets home from school she wants to eat cheese and chips then take a nap-pretty consistently every day. When this routine changes-she seems to be in a worse mood. Because I didn't know about the disorder until recently-after researching a bit it seems that other cases of children with the disorder also "love their routines". Something to prepare for ahead of time if there will be a change-I need to get creative with the distractions. Today she didn't get her nap after school because we had errands to run...She beat up brother in the back seat (hitting, hair pulling) - I grabbed a bag of chips on the go and she calmed down.

One of Asia's routines we have is before bed. When we put her Jammie's on we also use essential oils. She knows this and will hold up her feet to let us apply some to the bottom of her foot. It seems to calm her a bit and helps her realize she is going to bed. Some of our favorites have been lavender (regular), frankincense, lemon and orange. -Remember to be careful when using essential oils on someone who has seizures, some can cause seizures- I do notice a difference in brands. Some are fairly costly and others you can buy online for super cheap. One of my favorite brands has been doTerra-and part of it has been the smell other the quality. Frankincense has been known to help with seizures. It can be applied to feet (toes), temples, earlobes and neck. I noticed a difference in seizures with Asia when I started using Frankincense. I also noticed a difference between brands. When I say difference I mean I saw less seizures with certain brands.  I would definitely recommend the doTerra brand and if you needed a contact here is a email address.

Other then that...pretty typical day.
Still no return call from Dr:(
Snow outside is insane and everyone has cabin fever...

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