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

Friday, June 14, 2013

Brochure for 2q23.1 Microdeletion Syndrome

The new brochure is out for 2q23.1 Microdeletion Syndrome. The Unique organization is so great to put literature out for people with rare chromosome disorders. These can be printed  and shared with Doctor's, teachers, family members, friends etc. Unique runs off of donations, fundraising and sponsorship. First link is for Asia's Syndrome-there is a pic of her in it.

Brochure for 2q23.1 Microdeletion Syndrome

Next link is for the Unique organization.
http://www.rarechromo.org/html/home.asp

This link lists all the rare chromosome disorders they have information on. If you are looking for information on a rare chromosome disorder check this out. There is a lot of information here.
http://www.rarechromo.org/forum/DisordersLeaflets.asp

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