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

Saturday, September 21, 2013

Dollhouse Festival and Boutique-Utah

Dates: September 26, 27 & 28 2013 Provo City Library

Thurs., Sept. 26: 6 – 9 pm   Masquerade Ball-Dinner, Entertainment and Silent Auction
Cost: $100 a person
(includes dinner catered by Chef’s Table)
Location: Historic Provo Library, 500 N. University Avenue, Provo, Utah
Click here to purchase tickets

Fri., Sept 27 & Sat. Sept 28-Boutique & Children's Boutique- 10am-8pm Fri. & 10am-5pm Sat.

Sat., Sept. 28  at 2pm-  Mad Hatter's Tea Party for Boys & Girls.  Storytelling, parade, games, treats and prizes!  "Wear your favorite hat."  Tickets must be purchased in advanced. Click here for tickets

Click here for more event information

If you are a Utah Valley Local you may have seen signs posted about the Dollhouse Festival. I think I have seen or noticed these signs for years but, I had no idea what it was for! I guess I kind of assumed it was kind of a "toy show"-right? It is far different than that. I almost feel bad that I have never looked into because, it is a advocate for physically and sexually abused children and such a great cause. That is why I am sharing because maybe you too-haven't realized what this organization is.

When child abuse occurs-the CJC is usually the first place the child will go, instead of a police station. It is more comfortable for the child-they want them to feel safe so they can openly talk about the abuse. The CJC can provide all the necessary services-medical examines, crisis intervention, investigation and counseling services- in an effort to fully meet the needs of abused children and their families. Please be aware of them, they are always looking for volunteers-they provide so many services for these children-visit their site, or more importantly check out the events next week.
Link for the Children's Justice Center Website

In 1992 a group of women started The Teddy Bear Project-they made and donated teddy bears to the Provo Fire Department-they had so many that it shifted to the Children's Justice Center (CJC). Even now there are 50-90 teddy bears donated each month. Each child selects their own bear following the abuse investigation and interview. The importance of the teddy bear is to symbolize that someone is there to listen and care. In 1999 The Dollhouse Festival began-to benefit the CJC. This is a all volunteer, non-profit organization that raises funds for the CJC. You can attends the events- or donate items to be sold at the boutique (items must be collected by the 23rd). If you’d like to donate any items contact Brittany at Masquerade ball, dinner and auction the 26th, yes-there will be Dollhouses for auction!  Friday and Saturday shop the boutique and let your little ones shop the children's boutique. Saturday let your children attend the Mad Hatters Tea Party. See links and info above.

The events all sound fun to me-I would love to go to a Masquerade Ball (never have), shopping all the cool local handmade gifts, and kids would have a blast at the tea party...all for a great charity which is really the most important part. I think we all have someone in our lives that have gone through such tragic events, what these children endure can hit close to home. I encourage you to visit their site and see what they are all about. I will definitely watch for these events next year!

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