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

Wednesday, September 25, 2013

Barbies and Baby Dolls

So today I found myself having a "moment"-I started packing up some of Asia's toys to donate...old Barbie dolls she never played with, some dress-ups she hardly used, a baby doll swing along with other items. I also found myself cleaning out her dresser a little and taking out the size 2T big girl Elmo undies that would never fit now. It's kind of a hard thing to realize she has never had much interest in the things that little girl would normally be interested in (Barbie's and Babies). I felt like I was "burying" her childhood and she hasn't experienced it yet.  If one day she wants to play with Barbie's-I will buy her new Barbie's:). It was kind of hard on me-it felt weird. She is 7yrs old-I'm not ready for her to be a "big girl" because she hasn't experienced being a "little girl" yet. Reality is that she is different and unique. It really isn't that important that she doesn't "play" the same as other kids just difficult to swallow sometimes. By tossing out old toys that never got used and underwear because she is not potty trained even today I am facing reality and moving on. I can remember one time she wanted a baby doll in the car and it was a little unusual for her so I took pics on my phone-it was so cute. Before bed tonight I dug out one of her old stuffed animals, a lion she called "Pa Pa" just to get her a "toy" and see if she would respond. She was actually excited to see him and said "Nigh Nigh Pa Pa". Then wanted her "book, book" (a flaghouse magazine) and snuggled into bed. I guess if a magazine brings her joy and comfort I should not complain, right?:)

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!

New Look

I find myself getting bored with the appearance of my websites-I may change the look here and there. All content is still here-just updated:)

Thursday, September 19, 2013

Asia gets a bike!

This video is kind of long...sorry 2 minutes. I have to share-Asia received a special gift! We are part of a couple local organizations for families with children who have special needs. One of those organizations assist children with things that insurance wont cover but, can improve their lives. Asia loves the bike in her PT lessons, her therapist thought that Asia would benefit from a bike. She loves it, it would get her the physical therapy she needs and she could feel like "one of the kids." So, we put in a request with our amazing organization and it was approved! We ordered green so we can re-gift it to a child when she grows out of it. We took her on a long bike ride and she loved every minute-especially when she could go fast and crazy:) We can't be any more grateful-these are not cheap and feel very lucky. Yay Asia! It's definately something to make her smile.

Random Comments

Today I have had a couple of comments from people that have really stuck with me. First, I went to the pharmacy to pick up Asia's medicine refills and working behind the counter was a pharmacist I haven't seen before. I want to say he was "new" because he was really friendly and seemed like he was going out of his way to make conversation. This was really great except the awkward comment he made. He asked me how the medicine was working for Asia. The meds I was picking up were two different types of seizure medication. I said "they are OK, she still has seizures but not as frequent." He awkwardly said "oh I guess that's better" and I just didn't have anything to say back. It has stuck with me all day because is it better? Even one, just one short unnoticeable, not injuring seizure is not better. There is a obvious answer that "yes", it's better to have a couple seizures during the day then seizures all day long. Better would be no seizures-ever. We were told Asia has to go 2 years with out a seizure to have a good status. You would think after watching her have seizures for 5 years it would get easier. It doesn't! If you have ever watch a child have a seizure-there are different severity's of the seizures that can cause a different reaction in you but, it never gets any easier. You are helpless while they looked tortured. It is never easy. Every time you wonder if it is taking something away from her-her knowledge and skills. She can not talk so I don't know what she feels or senses before, during and after. Is there pain? Confusion? Headaches? You would also think that after 5 years they would be controlled after trying different doses of medication after medication and supplements. I guess my response now to him would be-"it'll be better when she doesn't have them at all."

Second comment came from a amazing neighbor who has two children with special needs of her own. I have been considering taking Asia out of her private speech therapy lessons. I brought this up to her and she told be about one of her children's therapist. She had a therapist when she had her kids in intense therapy that said "you need to decide what is best for your family, if you need a break-take a break". Asia gets speech at school but every lesson we have out of school is a nightmare! Her therapist tries to get her to "talk" or "sign" and she throws the biggest fits-last time she was kicking him. She would probably do better if I or her Dad didn't have to be in the same room but the facility doesn't allow it-we are not allowed to leave her alone. I don't know if these 1 hour lessons every other week is doing anything. I am starting to believe the only way to do therapy is intensely-more frequent with longer lessons. I did get in trouble last lesson because we took a lot of the summer "off" and he told me if I didn't stick with the program they wouldn't have her in it-yikes, I felt like I was in trouble in high school or something. Yes, I need to be diligent but even with diligence I don't see her improving or changing her behavior. I think she may need a break-no set time frame just to let her be her and let us be the way we are. I think we allow so many people guide our lives because we are continually looking for anything to "help", that we kind of get wrapped up in how things "should be". Asia gets so much therapy and really, she will learn to do things in her own time. Therapy may or may not expedite her skills-if she gets that upset during the session I cant imagine that it is helping I think we are going to take a break:)

Friday, September 6, 2013

Asia at the carnival

Asia is sensation seeking and loves carnival rides-the big ones. One of Asia's favorite things to do! It's a face of sheer bliss:)  She also loves to watch this video over and over and over...

**I have tried to figure out a way to eliminate the ads at the end but I can't, sorry-some may not be appropriate-I am not that great with youtube yet**

"Chewy" Friendship Bracelet

This summer on one of our "adventures" we stopped by a Fremont Indian Museum. While we were there, I bought all of us a few of the knotted and beaded friendship bracelets. I noticed that Asia was chewing on hers all of the time. I kind of thought "that is cool" because it kept her from chewing on her arm and clothing. I decided I would try and make some for her. I thought since she was "chewing" on it I might as well try and find some "organic" embroidery floss. I discovered that it is seriously hard to find! I found two different shops on Etsy and ordered some from each just to compare. One shop is located in the UK and the other in the US. Here is my first attempt at making her one (its not perfect)...I might make the next one a little wider and order some darker colors. Maybe practice some new pattern skills:) The cost is low and I can easily make more when needed. When she saw it she asked me to put it on her-she started chewing on it within seconds of putting it on her arm. I don't know how long it will last or if it's very good for her to chew on but, I figure it can be any worse then her shirt and it protects her arm!