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, August 5, 2014

Ear Tubes

Last Thursday Asia received her third set of ear tubes. She seems so "old" to be getting ear tubes and she had a really great year for being healthy however, she has had fluid in her "good" ear since February (or longer). We didn't know if there was infection or not. Both ears, her good and bad, were retracted and both had some fluid but there was no infection. I am actually relieved she got these again. We don't have conclusive results on her "bad" ear, we know she does not process sound in her right ear so the idea of her "good" ear being blocked was frustrating. It has been blocked for a long time too, so maybe her speech will improve even more now that it is being drained! She made lots of friends in the waiting room, she tried to take some lady's name tag off and pretty much pulled her shirt off with it. I don't get too embarrassed by this kind of stuff anymore-I have no control over her impulses and I just have to apologize profusely:) What can I do?? She is very spontaneous.
She did not want to put these socks on? lol.
 She LOVES doctor garb! She always wants to wear the badges, stethoscopes, masks etc. Thankful for good doctor's that go along with her desires:)

Two hands on her ear, this has been her "comfy" pose since she was a baby....what a sweetheart.


Wagon's make everything better. It is always a hard thing to let her go on her own and say good bye in a hospital even when it is something minor. She (unfortunately) is a pro, and doesn't look back. You hate not being able to go with them though...


Next time Daddy is going. This is no sleeping Angel! She woke up out of anesthesia and literally jumped out of bed kicking and screaming. She is getting so big that I can not contain her. She hit, slapped, pulled hair, kicked yelled everyone kept asking me if I was hurt-it was that bad. I know all of the nurses were probably watching my camera because they kept coming out and asking if I was OK, or needed anything, lol. Life is crazy. I honestly can't believe I didn't get a bloody nose. Lessened learned. I have no control anymore, I am too small. She was really grumpy for about 2 days. She is doing great, I have seen some drainage and she was in a really good mood today. Maybe her ears were aching a lot with fluid in them?? 

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