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 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.

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