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

Tuesday, May 7, 2013

Medical Tattooing?

Medical Tattooing?? I bet this would be a hot topic-Right off people are thinking "what? no way" but, think about Asia's situation and many others...

After hearing about the 3 women who were abducted 10yrs ago and just rescued today in Ohio! It stirs up a lot of questions. Can you even imagine...I pray to never be in any type of situation like this-my heart goes out to anyone who has and it only makes my concerns for Asia triple and I'll tell you why. It's not that I think she'll be abducted-but sadly you never know and you always have to be on guard. My concerns are even if she gets lost, runs down the street, etc. Asia doesn't talk, she can not communicate at all, especially if you haven't been around her much you would have no idea what she needs. I will always have hope that she will someday grow out of this. That she will even be able to talk but, until then what do you do? She has many medical concerns that have to be treated everyday. Asia is very mischievous and she thinks it's funny if she is in trouble. She loves to try and get away with stuff. When it comes to running off, she is out the door on her way to who knows where- as fast as her little legs can carry her. I think she must feel a sense of freedom when she can take off and just "go". You can watch it-Big smile on her face, wind blowing through her hair and walking on her toes as fast as she can:) Scary right?

There is a part of me that says "I shouldn't worry" about others?? and then there is the other part of me that freaks out at the thought that someone would harm her and I would never even be able to get her to tell me what has happened-Argh! One of my biggest frustrations and fears! Once and awhile she'll come home from school with a bruise or scratch and I am totally assuming she fell down (because she does) but she cant tell me. It breaks my heart! Sometimes I'll get a note from school saying she tripped or something like that and I really appreciate it. I have gone through about three bracelets that I have had made. Kind of a "ID tag" with her name and phone number engraved on it but, she keeps breaking them and they get really scratched up so the writing unreadable. She pulls and pulls until they snap. I have had them welded, used the strongest material I could find and she still breaks them. This I did after a situation at grandma's- which I hate to admit happened but, I was doing a photo shoot in the back yard (which is fenced in) and Dad was (I thought) watching her. I think he assumed I had her but neither of us realized the side gate was open. I can't even describe the feeling when a neighbor (which I didn't know because it wasn't my house) walked back and asked if anyone was missing a little girl. Instantly my heart sank and I was sick to my stomach. Turning left in direction, I walked down the street about a block and there she was playing in the yard with several people! Talk about feeling like a terrible parent!! We concluded that the dog barking must have caught her attention and she headed to check it out. This had to be the work of  her angels because if she would have turned right, she would have headed directly onto a very busy road. I say "Angel's" plural because the girl has got to have more then one:) She could not tell this person who she was or even where she came from.

There are a bunch of medical ID alerts in necklace form and bracelets but she will not keep them on. What do you do?? Seriously?  I know obviously you keep them in sight at all times but, what if a "grandmas house" situation occurs? or what if she is in someone else's care and something like this happens accidentally? So scary but realistic. I would love for her to be able to explore a little on her own and be at a small distance. She has a mind of her own and knows what she wants to do and where she wants to go. I just don't know if she knows enough on how to get back home and I have never seen any signs that she can perceive what "danger" is. She even has a really high pain threshold that often, if she does get hurt, I don't hear a peep out of her. This brought up the topic of medical tattoos?? I am curious to know what people think. I haven't seen anyone do it. Is it completely wrong? I guess there is the concern that she may not need something like that forever. Then I was thinking maybe there is a "henna stamp" I could have made or maybe I will just start writing with sharpie on her arm (which is more realistic, and I will most likely start doing it especially with large public events). She does chew on her arms though (which we try to stop but cant) so maybe henna and ink would wipe off? Implant computer location chips? How far do you go? Thoughts? Anyone have any other ideas?? I would love to hear them:)

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