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

Thursday, June 20, 2013

Swim Lessons

This is the third year Asia has taken survival swim lessons. It's a intense 10 minute lesson to help her find her "safety place" when in the water. Her swim coach gets her use to the water, putting her face in it, no plugging nose etc. Then learning to roll to the back floating face up and relaxing. She is also learning how to look in the water and find a wall to reach for. Asia knows what to do and does a lot of the work herself. She still gets a little panicked when her head is underwater but she immediately tries to roll to her back and put her face up. Today her coach mentioned that she could tell she (Asia) knows what to do, you can see it in her eyes-she just has a hard time getting her body to move. Asia can not swim, her balance and coordination make it pretty difficult. If she were to fall in the water, or drift into water that was to deep to stand I want her to be able to be safe. The first year lessons lasted for a few weeks or so. Last year we just did a week (if I remember right) and this year we will start week 2 on Monday.  It has actually been pretty surprising to see what she is able to do herself. She fights getting in the water but she does need the skill to float safely. My other son does the lessons and I am starting my baby next week as well. I'll try to get a video next week. If you want more info please email me and I will get you a name and number. The swim coach is amazing and so patient, I definitely recommend her. Asia cries through most of her lesson, throwing a tantrum here and there and her coach is so patient. Asia is happy when she is done:) Claps and says "bye pool":)
~Asia started summer school last week and is not liking it:( Her routine gets thrown off so fast that just having a couple weeks off of school has not helped. Summer school is only 3 days a week for 3 hours. Her teacher (who is new for her) is saying that she is crying most of the day, wanting to go home. I may pull her out if the last couple of days were rough-I need to check. In the fall she will have the same teacher as last year and will have some of her same class mates. I just need something to keep her going during the day or she has little interest in doing much of anything...

~So a few weeks ago Asia got the 2 day flu. After she felt better, she started to refuse to eat or drink anything that was working for us. She is still refusing even now. She is being extremely picky and it is so difficult to get her to eat. Since then, I have been noticing a absentee seizure here and there, and more tantrums then normal. I need to find a way to get her appetite back. I think it is affecting her physically and mentally. I may look into food therapy-any one have any referrals???

~Her legs are getting so long!!!:) She is still pretty short but she is growing and the longer her legs get the harder things get on me. I can barely change or dress her-she thinks it is funny that it is so easy to kick me in the face or neck. Sometimes she does it in slow motion-I think she is doing it just to see what I will do...

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