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, January 20, 2014

This time last year! Here's to 2014!

I can't believe I started this blog 1 year ago this month! Wow-a lot has happened this year. It was one year ago I felt like I had lost a child... with confirmation of Asia's 2q23.1 microdeletion syndrome diagnoses. Finding out that Asia's symptoms were related to her genes meant there was really nothing I could do about it-her physical symptoms, her development, her overall health. I look back now at some of the first posts on this blog and it amazes me how much has changed. Last year at this time Asia was a MONSTER! She was physically abusive, screaming and tantrums non-stop, seizures were happening very frequently. I was ready to start seeing a therapist so I could cope. I am going to start by telling you that Asia-has had a amazing year! I am even more excited to tell you that we have started weaning her off of one of her anti-seizure medications!!! Yay!! Last year I removed one of Asia's prescriptions from her diet and it made the world of difference-her personality came back, she was healthier and peaceful. From there it all got better. She passed a goal at school!!!! First time ever. Everyone at school and her bus drivers have commented on her balance and coordination improving and how much conversation she tries to have with them. She is alternating her feet when she goes up stairs (this is BIG). She is starting to "play" with some of her toys. I have seen her use independent thought when asking her a question and then making a choice. One of her prescription medications was being given to help her "drop seizures". The awful, terrible kind of seizures-the ones that have scarred her face. We haven't noticed these types of seizures for at least 6 months. She will remain on another medication because right now she still has seizures-more of the absentee type. So....her neurologist approved the weaning off of Topamax to see how she does. Asia has had a very hard time this year keeping and gaining weight, she seems to have little appetite. She is also still very delayed with speech-she continues to only have a few words. Other children with 2q23.1 speak normally and we have a concern that Topamax is delaying her speech and causing her to have little interest in food. If she reverts to having drops-my hope is at that time she will be able to try CBD instead of Topamax. I am excited to see what this year holds for Asia and my family-Here's to 2014!

I have a cute side note: We all know that Asia loves her cheese. She will only eat the best now-you know, the expensive types from places like Italian deli's. Nothing American or "orange". At this appointment we were telling her neurologist that her appetite was very poor and all she wanted was expensive cheese-he thought this was pretty amusing saying "being a French man I understand"-it was so cute. If cheese makes her happy-she'll get her cheese:)

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