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 28, 2013

Asia gets a new ride!

Woohoo!! I am so excited! Asia got a new "ride" today. A special needs stroller that looks pretty "normal". We were worried about getting one that looked to "medical" but she is getting so big and really a regular stroller isn't cutting it anymore. Her feet have begun to drag on the ground, she's too big/tall for the seat and its just uncomfortable for her. The idea of taking her anywhere for the day (Zoo, park etc.) is to overwhelming. She can not do long distances on feet and she loves to cruise around in a stroller-it calms her down. I am excited to give it a try now. The stroller does look a little medical-tons of straps etc. but not too bad. I am going to remove the foot straps. It tilts-so she can lay down. Headrest and footplate adjusts up and down-I guess I should say everything is adjustable. It's made so it will last her several years of growth. It's lightweight and collapses pretty compact so it will be easy to take in the car. It is also approved for transit which means-if she ever needs to, the stroller can be loaded straight onto a bus etc with her in it and be strapped down. As soon as she saw it she wanted "on" and then she didn't want to get out! She got her books and we gave it a quick ride to the park and it handles amazing-even over grass. I guess it should handle amazingly after what it costs. These things are not cheap! and took a couple of months to get. So how did we get one? I didn't know this until recently but, some insurance benefits will actually cover the cost -if it is needed for the patient. Asia's PT and Pediatrician had to prescribe/write letters saying that it was a need. The only thing they didn't cover was the canopy which I had to pay for.
Going out!

If you can't tell...this is a happy face!

I have had a lot of people already ask about this stroller/wheelchair. Because it is built for larger children and it doesn't look like a wheelchair.
It is a   Convaid Rodeo Tilt-In-Space chair.
If you Google search Convaid Rodeo it brings up a lot of information and dealers or where to locate a dealer.
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