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, April 2, 2013

Asia's First Bike Ride

Something to make note of: We found something that makes Asia smile!! She has been wanting to ride a bike for years but, hasn't had the strength to do so. She has such a short attention span and gives up so easily on things that helping her to try and ride on tricycles was always short lived. Every time she sees a bike though she says, "on" and pats her chest. Today at her physical therapy session she got to ride a bicycle that was "just right". It gave her all the support she needed to feel comfortable and gave her motivation to try and keep trying-yay! She loved it, I wish I had one for her that she could gain strength and confidence on:) It will go on the wish list-look at this face (I am pretty sure mine has looked that way all day because of this ride).

Posted by at

1 comment:

  1. JoanOctober 30, 2014 at 4:33 PM

    Season, you're such a great mom! I've enjoyed and learned so much from your blogging, even though all three of my children are grown. Please be encouraged every day, because it's apparent you're doing everything you can to nurture Asia in her life as the amazingly beautiful human being she has already become. :)

    ReplyDelete

Subscribe to: Post Comments (Atom)