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

Sunday, January 27, 2013

Sensory Processing Disorder-Loud rooms?

Today started out surprisingly well. Asia only tried to get the baby twice and was almost in a happy-pleasant mood almost all morning-which in itself is rare. Very content looking at her Ipad while laying on her brothers bed and even tolerating her morning seizure medicine well. Normally she gags it down- even dry heaving before we actually give her a spoonful of yogurt or applesauce. Currently she is taking the medications Topamax and Depakote which comes in capsule form but, we have to open them up and mix the tiny sprinkles inside with food. Easiest being yogurt and applesauce but she has a distaste now for both. We have to be prepared for her to throw up every time she gets it. We have found that mixing a little Agave in it seems to make a difference in taste for her. Asia's seizures are not under control. She has also been on Keppra but, she was weaned from that because we didn't see a difference. The amounts of medication keep being altered to try and get the right combo to stop her daily seizures-we aren't there yet. Different medications may be introduced in the future. Asia started having seizures -that we noticed- around the age of two. They started with two grand-mal and then medication was introduced. Now she has seizures more in these categories: Absence seizures, Atypical absence, Atonic or "drop", Tonic, Complex partial seizures. Here is a great link for types of seizures.

I wondered how long the good mood would last...

We attended church services and she really wanted to be there but she pulled her teachers hair and slapped her numerous times and I am not sure why? It is so embarrassing that there is no control-but what can be done? Kids act a little sketchy around her because I know they are on the defense. Unfortunately, she has probably got each of them a few times as well. When I say slap, remember she is only 6. Her slaps can be painful here and there but, usually not. What gets me is the hair-pulling and the slap that is being repeated over and over and over. She kicks now as well:) Also the tantrums with the screams. This year she has developed a high-pitched shrill. Loud and intolerable. Daddy calmed her down a bit and left her alone with her teachers. She was great for them the rest of the meeting-happy to be there. At home company stopped by and she screamed and yelled. Hit and threw everything she could get her hands on-even our company, and why? We try to calm her by getting her what we think she is asking for but sometimes this is a impossible undertaking. Asia only has a handful of words she uses. We really try to translate what she is trying to communicate but sometimes we have to throw in the towel-we cant figure it out. Maybe she doesn't feel good? We stopped by grandma's house tonight and again she wants to be there but, she screams, hits, pulls her cousins hair, throws food-you got it, total chaos. We did notice that when all the cousins left the kitchen and the sound of the room was quieted-she did calm down...something to watch for in the future. She does have a sensory processing disorder so maybe to much is to much? I will have to watch her environment.

I wish I could tell you all about Asia in one post but there is not enough time to get it all down. I definitely want to document her days and anything that might be part of this puzzle. When it's late, I may only be able to touch on our day. We will catch up.


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