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, April 24, 2014

Join us for the Walk with Angels

We would LOVE you on our team! Team Asia raising awareness for 2q23.1 Microdeletion/Duplication Syndrome. We have signed up for the annual Walk with Angels-organized by the United Angels Foundation. May 31st in Lehi Utah beginning at 9:30 am. More info here or if you have an Angel sign up! This is a great organization doing so much for the special needs community-we are happy to participate in this activity!
The United Angels Foundation is proud to announce the Walk With Angels. This event provides an opportunity for family, friends, and members of the community to show their support for parents that have children with special needs. We encourage you to join a team and attend this wonderful event. With your support, we can reach out to more families and provide them with assistance, resources, and the opportunity to connect with our wonderful members. We use the funds raised from this event for parent educational seminars, youth and family activities (including Freedom at the Pool, Hee Haws, and our annual Christmas party, as well as age-related activities), and to administer our newborn and new member program. Please join us in advocating for all the angels in our community!

So... Asia has a chance to win a desperately needed new iPad:) It will take a lot of donations to her team but nothing is impossible! Go Asia:)
Link for Team Asia!

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