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, April 15, 2013

Miralax Awareness cont.

I just want to reply to the many messages I have received on my last post about Miralax. It is great. Whether it's good or bad it's getting people talking about it. My intent with that post was just to share "awareness" and caution. To get people talking and asking questions. Nothing is ever done until there is a "fuss". More people need to ask these questions and maybe some research will be done. My main concerns are not for the adults but, mostly for the children. Their growing/developing little bodies react differently to treatments then adults do. Anything given to them (children) should go through a complete testing-who would expect anything less. Especially when it is a substance given for long periods of time. When there are reports out there like these and Dr's are not aware of them I am concerned. I am obviously not in the medical field (even though I feel like I am:). My husband and I have spent countless hours researching medical solutions for Asia over the last 5 years. We have often found ourselves knowing as much or more then some of her Dr.'s-and I am not saying that "proudly" just sayin. We have been focused on one person when Dr's have hundreds of patients. They do their best with what they know and the rest is up to you. When you spend that much time looking at medical research and you come across information that directly affects your own child and you see the negative effects it has caused- I am going to share that information with others that may be searching for those solutions in their own life. The change in Asia is undeniable. Clint and I feel its our duty to share the outcome of our experience and give a "heads-up". Not everyone is going to react the same as Asia has but, everyone needs to be aware of whats going on.

My pediatrician recommended sending in a report to the FDA. Here is a link for FDA report and also report adverse effects to RXing. I have submitted my forms and if you have had problems you should do the same. Here are some links to report to:

This one is to complete a form 3500 online,
Download a copy of this Voluntary Reporting Form FDA 3500 or the Consumer Voluntary Reporting Form FDA 3500B and either mail it or fax it to us at 1-800-FDA-0178. Forms are available at:
Another great link to report at

There is also a Yahoo Miralax group-that has a lot of people who have additional info on Miralax awareness. Just search Yahoo groups Miralax and it comes up.

Side Notes:
~she is still doing awesome! no aggression, rage, lethargy etc.
~no noticeable seizures.
~throws a tantrum here and there when she is not getting what she wants but, tantrums do not include the aggression (hair pulling, kicking, hitting etc.)
~putting more words together
~renal ultrasound came back with normal results-yay!

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