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, February 27, 2013

2q23.1 Awareness Day

Wanted to share about the 1st Annual Awareness Day for 2q23.1
Started Feb 23, 2013 but continues on...
This year on February 23, 2013 will be the first annual 2q23.1 Awareness Day. With goals to educate the global community and promote AWARENESS of 2q23.1 Microdeletion/duplication Syndrome, we hope to find other families around the world with a 2q23.1 Microdeletion/duplication Syndrome diagnosis and offer SUPPORT. We wish to inspire medical professionals to RESEARCH 2q23.1 deletion/duplication syndrome, so that there can be a better understanding of symptoms and expected outcomes.
2q23.1 deletion/duplication disorders are extremely rare, with only around 70 documented cases in the scientific literature. These disorders typically fall into Autism Spectrum Disorder, which causes a lot of confusion. The chromosome mutations and symptoms have great variation in each child. Most commonly, children with this disorder experience seizures, intellectual disability, microcephaly (small head size), speech impairment, distinct facial features, and developmental delay. Even though these children seem widely spread throughout the world, and so few in number, more diagnoses are continued to be made at a growing rate. We need to spread awareness to the medical professionals to help assist in accurate diagnosis of children with these symptoms. We need to spread awareness to geneticists so that research on 2q23.1 deletion/duplications can be funded. We need to spread awareness to families to help give support and a sense of community. And we need to spread awareness to society as a whole, to help make this disorder less misunderstood.
Check back soon for more details on 2q23.1 Awareness Day!

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