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, November 5, 2013

November is Epilepsy Awareness Month

        November is Epilepsy Awareness Month-It's time to get Seizure Smart.

Epilepsy affects my family everyday. Is Asia having a seizure? This is a constant "saying" in my home. We want to keep track for a few different reasons, to record how often it is happening, to make sure she doesn't get hurt and to monitor that "it" is not lasting to long. It's a tough activity to deal with. Of course I am going to spread the awareness this month and I hope many of you will as well! We want as much research as possible on a disorder that affects so many. There is so little known about epilepsy-there are so many types of seizures, and so many causes.This disorder causes struggle in day to day life, physical trauma, injures and takes lives. Treatments and cures are desperately needed.

Did you know?

Approximately 1 in 26 People in the US Will Develop Epilepsy at Some Point in their Lifetime.
  • 2+ Million Americans Have Epilepsy
  • 150,000Annual New Cases in the U.S.
  • 1 in 10 People Have Had a Seizure
  • 65 Million People Have Epilepsy Worldwide

A great resource for questions is the Epilepsy Foundation.

This year they are starting the "Now I Know" Campaign.


National Epilepsy Awareness Month

Introducing the "Now I Know" Video Campaign 

November is National Epilepsy Awareness Month!
As part of our mission to help overcome the challenges created by epilepsy, we're pleased to announce our Now I Know video campaign.
When it comes to epilepsy, what do you know now that you wish you knew sooner?
People with epilepsy and their friends, family and caregivers have until January 15, 2013 to log on to to submit a short video sharing their experiences.
Visitors to our Facebook page will have the opportunity to vote for their favorites and share the videos through their social networks. At the end of the contest, the videos with the most votes in each of four regions, will win iPads, among other prizes.
Select videos may also be featured here on our website and at our National Walk for Epilepsy in Washington, DC. We hope to pool the collective knowledge of the epilepsy community into an easy-to-use resource and to serve as a jump-start point for talking about the disorder with our communities.
Submit your video today to our Now I Know! Facebook app.
Official Contest Rules


 For the state of Utah.

Tomorrow at all Utah Chili's Locations-The flier says the city of Layton but, as far as we understand it's all locations. Copy and print this flier then present it at Chili's with your meal. They will donate 15% to the Epilepsy Association of Utah.


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