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, April 19, 2013

I Run

A couple of months ago I realized I needed at least a "little" time to myself, to get out of the house and collect my thoughts and emotions. I signed up for a gym and let me tell you it really helps deal with the daily stress. I bring my iPod with my fav songs and go to work out but, it is actually relaxing (compared to what awaits at home:). It gives me so much more patience with Asia. I am not consistent yet with getting to the gym but it is anywhere from 1-5 times a week and I run. I can not run a marathon but, even if it is only once a week it helps. I actually look forward to it.

After all of that....I posted awhile ago about a Charity run for the Now I Can foundation and I just signed up. It benefits children with disabilities. So far I have got my oldest daughter, Asia and myself running. I am starting a group under "Asia's Team" and we are going to start with the mile to see how Asia can handle it (and me:). There is a mile or a 5k.  I have a feeling she will love it and if she does we will try a longer distance another time. Hopefully I can handle pushing her:) If you want to sign up as part of her team she would love it! You will have to call to get the discount (801-228-1935). They will take a payment over the phone and send you a form. Or check out the info from the link below.  **Register by May 10th for the discounted price**



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