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, February 7, 2014

Not a Zombie Anymore.

I guess I would rather have a "screamer" then a zombie......

This is mostly just a venting post because it has been a rough few days. Asia is doing really well but, she SCREAMS all of the time. It may be out of joy, anger, or just trying to communicate but, I am at the end of my rope. It is even making me cry a little here and there. It gets that unbearable. I have to remind myself that this is better then her being a "zombie". I think she is adjusting from the medication change. I have currently taken away 3 of her 5 daily topamax pills. She is also so much more aware, even her bus driver has commented how well she is doing. She is trying to talk more and I think her "awareness" is also causing more frustration. She's so much more vocal.

I am happy to report that her appetite is improving. She is even out eating her siblings right now which couldn't make us happier. One of the side effects of topamax is loss of appetite and taking her off may be helping this. It would be nice if she could gain a little weight-I think it would help her overall health as well.

On another note she has become really obsessive. She refuses to share anything and gets extremely mad at the strangest things. This isn't just for food but for example, if she has a little bag of snacks no one else can have one too, she thinks she has claim to it all. She even gets mad at dinnertime when everyone is eating the same thing-she doesn't think this is ok and tries to take every one's plates. If there are two iPads out, she has to have both of them etc. etc. Hopefully this will stop:)

I had two meeting for Asia this week. First one was for the DSPD (Department of Services for People with Disabilities). After months of trying to complete the paperwork for them I finally got it all turned in and had our interview. I hate these kinds of things because I realize how little Asia can do on her own right now and it makes me worry about the future a little. Makes me questions things like "what if something happened to me and my husband? Who would care for Asia?" etc. a little overwhelming. In the interview I had to answer pages of questions about Asia's abilities and there was very few I could say "yes, she can do that". I have to point out though, that the questionnaire isn't specific for age and some of the questions I personally can not do myself, like sewing and do I balance my checkbook every month etc.-ummm no:) I pray that we will always be able to care for her and that she will grow and progress so much more over the years. If you don't know what DSPD is, it has a lot of benefits for people with disabilities. The waiting list is huge and I have heard of people being on it for 20 years! That is why I started the process now. It may provide some services for her now if she qualifies but, it will help her when she is older and if she is able to take a job, live out of the house, attend social activities -- they will help her do this. Great program and here is the link if you want to learn more

Other meeting I had was a parent-teacher conference at school. Going over some of the things Asia is working on, goals etc. Again, another meeting that points out how much she can not do but, there were some good things. They have noticed as well that her eating habits have been better and that she is trying really hard to express herself vocally. The teacher told me that she called a classmate by name two times in one day and that is so exciting. We will get little insights like this from her and it really makes us wonder what else she knows that she can not communicate. They are also getting a little bit of the screaming but it doesn't sound like it is as much as it is at home....she is doing very well at carrying her lunch tray (empty) and deciding what she wants to eat at lunch. With physical prompts they are getting her to raise her hand when it's her turn. They have to use physical prompts to get her to make a decision when working on pictures. They are also giving her a lot of options for making her own "choices" when it comes to activities. I can see the results from this coming through at home when I ask her to make a decision. I can tell she thinks about it first which is soooo great!

Several times in the last couple of weeks she has been waking up in these hysterical laughing fits. She almost seems to be "asleep" but now I worry that they are laughing seizures. We will have to keep an eye out on this. Just what we don't want, another type of seizure to show itself!

No comments:

Post a Comment