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 seasonatwater@gmail.com

Sunday, March 16, 2014

My Special Project-Aware of Angels


I know I posted awhile ago about a special project I was working on-well, I am ready to launch this project.! It has been in the works for over 6 months now and I am ready to share. Aware of Angels non-profit organization will now be my "baby". I am dedicating full time to this organization. The idea for Aware of Angels started after I had joined a Face Book group for my daughter’s rare genetic disorder. One of the Mom’s in this group was so excited that she was selected to have some photography work done for her daughter by a volunteer photographer. I, being a photographer, thought “what a great idea, how can I sign up to be one of these photographers?” I researched this a little bit and found out there is a national organization of photographers who did this voluntarily and I was about to submit an application when I had the thought “why don’t I just do this on my own?” At the time I was really trying to decide what to do with my business and how I could turn it into something I was really passionate about that also had a lot of meaning to me.  From there, it became not just about photography but, how can I incorporate photography into something much bigger? Aware of Angels became my project. With the experience's I have had with Asia and just knowing how much help is needed for families just like ours I became very passionate about helping. I am going to raise awareness for children with genetic disorders to promote research. I believe awareness equals research and new discoveries made for one group may help another. I will assist those who are still looking for a diagnosis get the testing and doctors appointments needed when out of pocket funds are low and insurance will not cover the cost. I am sure over the years it will become what it needs to be but, in the end it is all about these beautiful children and trying to help them the best we can. I am also including a Aware of Angels - Photography Project:)

If you want to know more or have questions about this organization the website would be a good place to start. http://awareofangels.org/ 

I am virtually "launching" AOA starting tomorrow and running it to 03/28/14
Our Aware of Angels facebook page is the place you will want to go for updates and current news.

We are holding some awesome giveaways on Face Book and Instagram; to have some fun, to try and reach as many families as we can who we may be able to help, to look for sponsors and raise awareness of our organization. Link for giveaways: http://tinyurl.com/ocyr7yk
Thank you! I would love to have as much support as I can get and referrals are great! You can find Aware of Angels on:

Website: http://awareofangels.org/ 
Twitter: https://twitter.com/childgenetics
Instagram: awareofangels
FaceBook: https://www.facebook.com/awareofangels?ref=hl
Pinterest : http://www.pinterest.com/childgenetics/


Season






2 comments:

  1. Just found your blog. My son is probably on the autism spectrum. We're not sure. Look forward to getting to know you more!!

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  2. Hi Kristi! I am so happy you found the blog! Email me, I would love to hear more about your son!

    ReplyDelete