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, August 26, 2013

Constipation Treatment

So everyone knows our struggles with Asia and constipation. I want to share this product because it has been amazing! This is all I give her right now-once a day 3/4 of a tsp. I worked her up to this dose over a couple of weeks but it is keeping her regular. I hope her body doesn't get "use" to it. For children 3mos and older, keep in fridge and I purchased mine at the local health food store.
RAW Whole Food Dietary Supplement

• Supports Digestive Healthy and Immune Health*
• RAW 
• Vegetarian
• Non-Dairy
• Gluten Free
Supplement Facts
Serving Size: 3/4 teaspoon (1.6 g)
Servings per Container: Approximately 60

Amount per Serving
RAW Organic Fruit & Veggie Prebiotic Blend 1.52 g
- Inulin, Banana (fruit), Strawberry (fruit), Cherry (fruit), Blackberry (fruit), Bluberry (fruit), Raspberry (fruit), Beet Juice (root), Carrot Juice (root), Spinach Juice (leaf), Broccoli Juice (flower & stem), Tomato Juice (fruit), Kale Juice (leaf), Red Cabbage Juice (leaf), Parsley Juice (leaf), Brussels Sprout Juice (leaf), Green Bell Pepper Juice (fruit), Cucumber Juice (gourd), Celery Juice (stalk), Garlic Juice (bulb), Ginger Juice (root), Green Onion Juice (bulb), Cauliflower Juice (flower & stem), Asparagus Juice (flower & stem)

Probiotic Blend 81 mg
- Lactobacillus gasseri, Lactobacillus plantarum, Bifidobacterium lactis, Lactobacillus casei, Lactobacillus acidophilus
- Total Cultures 5 Billion CFU
Active Ingredients:

Bifidobacterium lactis
Brussels Sprout
Celery (Apium graveolens)
Garlic (allium sativum)
Ginger (Zingiber officinale)
Green Pepper (green bell pepper)
Lactobacillus acidophilus
Lactobacillus gasseri
Lactobacillus plantarum
Red Cabbage
Inactive Ingredients:
Banana, Beet

7yr old pic!

I may change this pic as her main "7yr" picture but, so far it's one of the better ones. Two photo shoots, two crowns of flowers and only a couple good images-she is so difficult. She cried, would bite her arm, lay down, rip the flowers out of her hair over and over again-lots of fun but worth it to get one picture:) I am going to add a series of her "tantrums" to this but I need to organize them first:)

Wednesday, August 21, 2013

Conversation with Asia

It's really hard to describe to people how Asia is pretty much Non-verbal but has a "handful" of words. A lot of the words she says are not that clear to people unless they have been around her a lot. I am going to share two videos (on you tube) I took after I got her off of the school bus-she tries so hard to tell me things and have a conversation-it's one of the best times of day to get a little bit out of her. Even though our conversations are almost always the same thing:) She is so cute! I really kind of like the idea of posting videos.  I like to share her behavior-I may do more! Click the links below.
I would have just put the video here but it failed to download...

Sunday, August 18, 2013


I have been so busy with work I haven't had much time for posting...but, I am so ready for back to school! This is part of the reason why. Asia finished summer school and has been home for the last couple of weeks. Asia doesn't really "play". She doesn't play dolls, games, with friends, not much interest in coloring etc. She can't sit still for very long so even sitting and trying to assist her with something doesn't last long. This is one of the most difficult things for me because I feel like she is missing out on her childhood:( It's like she just doesn't "get it". She loves to watch other children play. At Grandma's she likes to stand in the window and watch while everyone else is outside playing and she honestly has a great time. She loves watching her brothers play with toys and will even offer toys to the baby to play with-which is cute, she just doesn't want to be involved. I am so embarrassed to show off my messy house but what I am getting to is, the pictures below demonstrate what Asia does when she is "playing". It only takes her a couple of hours to move through the house (and outside) and completely destroy the place-it's one of her favorite things to do. She is very destructive. She loves a clean room or a tidy closet-just to mess it up! If I send her to her room to play she empties out her dresser, takes all of the books off of the bookshelf and all the toys from the bins. She moves through the house empting cupboards, closets, dresser drawers-Argh! She takes stuff from one room and moves it to another. I am so done with it and can't wait for her to get out of the house for school:) I love her but, I am ready for a break and a clean house. I have given up for the last couple of weeks on even trying to keep things straight. When she is at school maybe I can clean up and it will stay clean for a few hours during the day-3 more days!
Asia's version of "playing"...Yes, all within a couple hours.

Monday, August 12, 2013


I needed to find some paperwork today and that involved going through a TON of Asia's "stuff". I keep articles, Dr. visit notes, stuff from school etc. I started reading a article given to me by Asia's geneticist that I haven't read yet. It came from the European journal of Human Genetics  and was written about 2q23.1-so it's kind of lengthy and involves a bunch of stats and footnotes (I have to be in the mood for this kind of stuff). Something stood out in the title-as it listed traits associated with 2q23.1 along with all the others seizures, intellectual disabilities etc. I noticed the word Microcephaly. I have never paid much attention to that word and I don't know why but, I have seen it listed in Asia's Dr. reports many times-from her neurologist, her PT, probably even others and I never asked about it before. I have never heard anyone say the word Microcephaly. It has to do with her head size being smaller then it should be-I have never thought about it being anything to stress about. Her neurologist always has a bit of a concern about her head size-initially that lead him to believe she may have other disorders that were later ruled out like Angelmans. So I googled it today-

So many things about Asia are unknown at this time. A lot of Asia's symptoms are some of the mysteries of the world-like seizures, adding Microcephaly to the list is another one. I am a little saddened adding another trait. You wouldn't think head size would effect so much but it can. Who knows what problems it is really causing her. I don't even know her measurements and if it is a big difference or slight difference.

This is a little bit from Wikipedia...

Microcephaly is a Neurodevelopmental disorder and a  type of cephalic disorder
Neurodevelopmental disorders,[1] are impairments of the growth and development of the brain or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability and memory and that unfolds as the individual grows. The term is sometimes erroneously used as an exclusive synonym for autism and autism spectrum disorders.  It is usually defined as a head circumference (HC) more than 2 standard deviation below the mean for age and gender

The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities.

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.