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 seasonatwater@gmail.com

Tuesday, October 8, 2013

Artilepsy

I want to share this event that will be happening at the U of U Clinical Neurosciences Center. It involves so many that are effected by epilepsy. I am just hearing about this and don't know if I will have time to create anything of my own, have Asia or anyone else in my family-but maybe next year.  Maybe you will want to enter, it doesn't mention it in the info but I believe there will be judging and winner's announced!

Artilepsy

The Epilepsy Association of Utah and the University of Utah Clinical Neurosciences Center present Artilepsy, an exhibition of original artwork, photography and home crafts by people of all ages living with Epilepsy. This evening illustrates the profound effect that epilepsy can have on human life and the courage, humor and imagination many show in facing it.

How to enter: Link for entry information
Like it on FB: Link for Artilepsy on Face Book

All 2012 Entries Due by Friday, Oct 26

View the Exhibit

Nov. 2nd - Nov. 30, 8:00 AM - 5:00 PM

The gallery is free of charge and open to the public.  
Location & Parking

Clinical Neurosciences Center
University of Utah
175 N Medical Drive East
Salt Lake City, UT 84132

Free parking is available in the parking terrace across the street.
Custom Map & Directions


About
Epilepsy Association of Utah

Provides education and support services for individuals and families dealing with the many challenges of epilepsy. Visit epilepsyut.org for more information.

Clinical Neurosciences Center

The Clinical Neurosciences Center is the tertiary referral center for the Intermountain West, spanning five states and beyond.  Our multi-disciplinary care team–compiled of sub-specialists in neurosurgery, neurology and neuroradiology–work seamlessly to provide the most up-to-date care for patients with diseases and disorders of the brain, spine and nervous system.  Visit utahneurosciences.com to learn more about our services.
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