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

Friday, March 15, 2013

Spread the Word to end the Word

I am a little late on this...The official date was March 6, 2013 but, I am still seeing it pop up everywhere. I saw it all over facebook and "shared" it there but I wanted to post here as well.  I didn't realize you can go to the website and actually "pledge" to stop saying the "R" word. I just did it. The site is full of great information and I recommend checking it out (link below). I have now had a couple people ask me if Asia was "Retarded" or "handi-capped" and my response to that has been-"yes, I guess you could say that" because I really don't want to get "in to it" and she does fit the original definition. BUT, what has happened is there is a "negative" connotation with the "R" word and that is what the social population thinks it means and that is how they use the word. It can be very hurtful. I don't even approve the use of the word when someone is talking about something completely unrelated to a person. It just has such a damaging description.

(original def)
Definition of RETARDED
: slow or limited in intellectual or emotional development or academic progress

(see 4b-what it has become)
[ri-tahrd, for 1–3, 5; ree-tahrd for 4] Show IPA
verb (used with object)
1. to make slow; delay the development or progress of (an action, process, etc.); hinder or impede.
verb (used without object)
2. to be delayed. noun
3. a slowing down, diminution, or hindrance, as in a machine.
4. Slang: Disparaging.
a. a mentally retarded person.
b. a person who is stupid, obtuse, or ineffective in some way: a hopeless social retard. 
5. Automotive, Machinery . an adjustment made in the setting of the distributor of an internal-combustion engine so that the spark for ignition in each cylinder is generated later in the cycle.

To a point-she is "handi-capped" we now use the term "special needs". What we don't realize is how much people with special needs understand what is being said about them. I don't know if it would hurt Asia's feelings if I told someone she was "retarded"?  She can not tell me. (I would never say that) I would also hope that the people asking me if she is, is truly asking if she has a developmental disorder. Often we don't know how they actually feel inside, these special people just can not express themselves. I believe they do know they are different and they do have a desire to be "normal" just like everyone else. I assume for most, they just want to be treated that way as well. The new "R" word is respect. The older Asia gets I think she will have to deal with ignorant people more and more-both peers and adults. It breaks my heart to think that it hurts her feelings when someone is talking negatively about her and when she gets older it will effect her even more. No one knows the daily struggles of the special needs person. The physical and mental pain they go through can be excruciating. The inability to communicate, express emotion and physical limitations are so frustrating.  Always show kindness and respect-Take the pledge!

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