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

Sunday, January 19, 2014

USUOEDUCATION-special event

EVENTS FOR INDIVIDUALS WITH SPECIAL NEEDS

Please share this special event-What a great opportunity for our children who can not normally attend these events.

Access to Music: A Concert for Children with Special Needs and their Families-this event is FREE

Thursday, January 23, 2014 | 7 PM


Utah Symphony | Utah Opera offers an annual concert for children with special needs and their families. We present this concert because we know that many families cannot attend cultural events together because their special needs child acts in distracting ways. We feature our Opera Resident Artists with the Utah Symphony on the Capitol Theater Stage in a special concert where everyone understands the difficulty of keeping these children quiet in their seats. This concert is FREE but registration is required. 




Upcoming event:

Evening at the Opera for the Blind and Visually-Impaired

May 7, 2014- Mozart's The Abduction from the Seraglio

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