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 26, 2014

Rare Disease Day 2014

Rare Disease Day February 28, 2014

Here is a link for the US:
This event takes place on a global, national and local level. If there is nothing in your state take action now and tell your representatives that rare diseases are important to you. - See more at:

There are national activities to participate in like Handprints Across America. 

Find a way to participate that is right for you, view suggested activities on website for:

- See more at:

Local for myself is Salt Lake City, Utah. This year is the first year that SLC will be participating in Rare Disease Day. If your state is not yet participating contact your representatives!
Rare Disease Day US in Salt Lake City on 2/28/14, Utah State Capitol, Hall of Governors, 3-5 pm

American MedChem Nonprofit Corporation (AMC) (; Twitter: @americanmedchem) joins the National Organization for Rare Disorders (NORD),; Twitter: @rarediseases ) to observe Rare Diseases Day US in Salt Lake City.

WhenFebruary 28, 2014, from 3:00 - 5:00 pm
Where: The Utah State Capitol, Hall of Governors

Short talks are planned at the same venue from 4:00 – 5:00 pm.  

This is the first time that Rare Disease Day US is being officially observed in SLC. Governor Herbert has proclaimed 2/28/14 as Rare Disease Day in Utah.

Speakers (subject to change):

Steve Mikita, JD
Utah Assistant Attorney General

Robert Selliah, PhD
Founder/President of AMC

Joe Cramer, MD
Intermountain Primary Children’s Hospital

Mike Spigarelli, MD, PhD
Professor of Pediatrics, Internal Medicine and Pharmacy
University of Utah Health Sciences

All are invited to attend and show support to our local community of patients and families afflicted with rare diseases.  Also, lend your help to make this event be a success by sharing this information (email, social media, word-of-mouth, etc) with your friends and families and with patients with rare diseases. AMC and NORD will have a table of exhibits and information to raise awareness about rare diseases.

Robert Selliah, Ph.D.,
Founder, President & CEO
American MedChem Nonprofit Corporation
Salt Lake City, UT, USA
Twitter: @americanmedchem

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