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, November 11, 2013

Asia's Neurologist Makes A Public Statement About Alepsia-CBD

I have to share a letter "we" received today from Asia's Neurologist. It is not directed to "me" but, in a way I guess you could said it is, because in the future it could most definitely be directed to me - more specifically Asia. It is pretty exciting...A few posts back I wrote about  Alepsia and CBD-with all the parent advocates this topic has exploded-this post is a continuation of that. Tomorrow we are attending something pretty big, along with many other parents of children with severe epilepsy-a meeting with the state that I will share more about later. I will advocate for any child that would benefit from this medicine-even if I found it something not suitable for Asia's condition, there are so many children that would have a improved quality of life with it. It could help these children who suffer so much-I will do what I can. Today, Asia's Neurologist made a public statement regarding Alepsia-and I'm going to share it:) He is the Director of Pediatric Neurology at the University of Utah. I hope that other pediatric hospitals and doctor's will take note. I think this was a bold and very respected move. I believe he sincerely has the children's best interest at heart. I encourage you to read this, it explains it all. Remember it is coming from a very well-known, well-respected and very experienced Pediatric Neurologist. Many thanks Dr. Filloux!

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