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, March 28, 2013

Physical Therapy Evaluation

Just need to vent today:) Per Dr's recommendation and my own personal thoughts as well- I had a Physical Therapy evaluation today outside of the school program she is in. She just needs more therapy-life skills therapy-and so I am going to pull her out of school a couple hours a week for more physical and speech therapy. She is so exhausted by the time she gets home from school I can't bring myself to drag her off for more therapy after that. The appointment went great, I think the PT and I were on the same page as far as what she needs and we will see how it goes. She has been there before and hated it. Not that it was the physical pain, she just didn't want to do what they wanted her to. Asia is a little older now and maybe she will comply. We have some homework. To start- Asia's endurance is terrible so we need to get her started by walking more, practicing balance on curbs. She also needs to stretch her legs and heels everyday.

What I want to vent about today is her behavior before we started. Sitting in a room full of people she starts screaming her head off, throws a magazine at a little baby (completely freaked the mom) it luckily missed. I grabbed her as she was bolting to attack this poor lady. It would have been a little better but I was trying to fill out their 5 page questionnaire, keep track of my other two boys (who should not have been there and were waiting for their ride) and holding her down next to me as she hits and pulls hair. I noticed she needs a diaper change because it didn't look like it had happened at school. The secretary tells me there is a changing station in the bathroom, I  am sure I got a unintentional look of devastation on my face because Asia is way to big for those changing stations now-and then she says I could use one of the therapy rooms, which was so great but, then I felt slightly embarrassed because I think she could maybe tell I was breaking down. Asia then starts to climb over the back of the chair and a table to get to the toys and my 5 yr old tells me he has to go potty which is down the hall. At this point I am about to burst into tears as I grab my bag, the baby, Asia and send the 5yr old down the hall to the potty. I open the door to go out and this cute little girl says "why is she fussy"- as Asia throws herself to the ground in a fit. That just topped it all off and I can barely get the words out "I really don't know" and hurry down the hall. I am just hoping at this point to regain composure when I meet her PT! I knew when he started going over information I would not be able to hold it in. Luckily, they were super cool and let my boys run wild while I tried to explain Asia-not a easy or short topic. Anything that involves taking Asia out is truly so difficult. It did not help that my boys were there and next time they wont be. I can handle her a little better when she is all by herself but had to get this one off my chest:) Now I'm good:) Tomorrow is a new day...

~By the time we left she was being carried by the PT's assistant and falling asleep. They were so great!

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