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, October 1, 2013

October is Down Syndrome Awareness Month

I'm spreading the awareness that October is Down Syndrome Awareness Month. It is said that 6,000 babies are born every year in the US with Down Syndrome or (Trisomy 21). This is about 1 of every 691 babies born in the United States each year. Down Syndrome is caused by a extra copy of the 21st chromosome. A lot of people have heard of Down Syndrome and chances are they know someone with Down Syndrome but, often they don't really know what it is or really what it means for a family affected. There is a lot of great info on the NDSS (National Down Syndrome Society) website.
This link gives a lot of resources to learn more about how to support those with Down Syndrome.
NDSS-link for the National Down Syndrome Society Even though October is the official month for the Awareness, there is always local events, activities, and support being offered year round. The NDSS is also very active when it comes to social media-check out the info below...

NDSS is active on several social media outlets year-round, and Down Syndrome Awareness Month is an especially good time to follow and share! In addition to our regular social media activity, here are some bright spots to keep an eye on this month:
- See more at:

And now I have to share a photo of my bff's little girl and her cousin-I've shared it before but they are so cute and it may become a tradition this time of year. Spread the awareness!

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