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

Monday, March 4, 2013

Fairy Tea

 One of my wishes for Asia is that she can be happy and have fun in life. I don't want this to sound like I am too jealous but, I see Asia's cousins, classmates and friends running around-playing, having so much fun as children and I feel so bad that Asia can't participate. I will admit that it really brings me to tears sometimes. It's heartbreaking to me. This last weekend I decided to try an outing with Asia. I knew it could be difficult but was hoping that if I got really dressed up and dressed her up like it was "Halloween" maybe she would have a good time...
She was super grumpy about getting dressed to go-threw some good tantrums.
Didn't want to wear her "tiara", or wings and wanted to be carried.

  She perked up when she realized one of her favorite cousin's was going with us and driving in our car-that was exciting for her:)
 By the time we got to our destination she had been chewing on her hair-purple hair that is (I chalked the ends with purple color bug) she had purple all over her face and shirt-oh fun! I should have known better, lol. When we got there she was doing pretty good-tons of excitement in the air, lots of little girls (and big girls) dressed up in fairy costumes running around-then she saw the elevator. All she wanted to do is ride in the elevator and started getting grumpy that we weren't getting in it.

Then we went to the ballroom and the program started-it is intended for kids 3yrs and older. Asia's developmentally around age 3yrs (kinda guessing at that). The beginning of the program is silent-dead silent-except for Asia. She finds her high pitched grumpy shrill because she is upset (probably about the elevators) and starts kicking trying to grab stuff.  I had to hold her hands down so she couldn't throw anything. The Fairy King spoke and beautiful ballerina's danced-again it was so quiet except for Asia. I was getting embarrassed but what can you do? It is what it is:) I couldn't let her go and sit with all the other little girls-she was too naughty and I know she would have ripped someones costume or she would have hit and pulled hair-I was beginning to wonder what I was thinking even coming to the event. A lady at a table next to us kept looking back but I didn't dare look at her. I didn't want to know if she was just curious or annoyed. It didn't matter. We were served some food and what do you know-a little "tillamook cheese" just for Asia:) So excited.

I was second guessing myself about taking Asia up to meet the Fairy King. I almost didn't go. I didn't know if she could sit next to him without being grumpy-she loved it! Finally-she cheered up a bit. She called him "anta"-thought he was Santa and he was so great!
After the program I took Asia back to the Fairy King. He talked to her a bit and asked her name. She kept saying "anta" and checking out his costume. She really enjoyed that-yay!
 Was it worth it? Yes, and I say that because the next morning she wanted to wear her tiara and fairy wings. To me that meant she enjoyed herself even if she didn't act that way most of the time. We got to spend time with cousins, eating and dressing up. We may just try again next year.
~Yesterday, I had a neighbor tell me that the Fairy King remembered Asia after it was over. He heard her in the audience and he was glad I brought her to meet him and that he got to spend a little extra time with her. I heard that he knows it is hard for mom's with special needs kids to bring them to events like this and hoped she had a good time. This remark really touched me, especially when I found out who the Fairy King was:)  It is very difficult to bring her to events-and I mean very. This remark has encouraged me to try more with her-to suffer through it because she may actually be enjoying herself-I just don't know it. She needs great childhood memories too~.

1 comment:

  1. I love your costumes! You both look amazing! You are an incredible mother, Season. I admire you and Clint so much! And of course Asia, and Allie, Kingston and Deacon too. :) I am praying for you guys. Please give Asia an extra hug and kiss for me. I really do love and miss her. I cherish those months I was able to spend so much time with her! Love you guys! ~Lisi