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

Friday, August 22, 2014

Something really cool and Asia finally lost a tooth!

Asia finally lost a tooth this week!! I have been anticipating this for years and nervous about it. I don't know why I was worried about her losing her teeth? So, she will probably swallow them, I guess there are things that are worse:)  She doesn't understand the concept of the tooth fairy anyway...We were actually on a road trip this last Monday and she kept making noises like she was going to throw up. Then she started scratching her tongue? I found something that she could puke in if she needed too-sometimes she will get car sick, that's all I thought it was. Later when I was brushing her teeth, her right front tooth was gone- I guarantee she swallowed it in the car and it was bothering her. That's why she was acting like she had to throw up. I have been trying soooo hard to get a picture, and it is impossible. She looks so silly-now to try and keep her from grinding down her new teeth!! 
Part of the road trip we took last weekend was to Bryce Canyon National Park, Utah. It really is a spectacular place. Growing up in Southern Utah I had access to all kinds of amazing National Parks and I definitely did not appreciate them the way I do now. We have kind of been forced into these weekly road trips to So. Utah so it has given us an excuse to explore a little bit. Ok, the something cool. 
Did you know that all All U.S. disabled residents & disabled Veterans can get free admission to National Parks year round! It can also give you a discount on other services. I had no idea! We got a tip from a friend and asked about it when we were at the entrance to Bryce. Sure enough, we got a pass! The Park Ranger asked if Asia was with us, and talked to her a bit through the window. We signed a form and he gave us a pass. I think this is really cool and the Access Pass is something more people should know about. There are different types of passes available through this program. Below it says that documentation may be required, so be prepared if asked.

America the Beautiful

The National Parks and Federal Recreational Lands Pass Series
A pass is your ticket to more than 2,000 federal recreation sites. Each pass covers entrance fees at national parks and national wildlife refuges as well as standard amenity fees at national forests and grasslands, and at lands managed by the Bureau of Land Management and Bureau of Reclamation. A pass covers entrance and standard amenity fees for a driver and all passengers in a personal vehicle at per vehicle fee areas (or up to four adults at sites that charge per person). Children age 15 or under are admitted free.

Access Pass

  • Free
  • For U.S. citizens or permanent residents with permanent disabilities.
  • May be obtained in person at a federal recreation site or through the mail using this application form. The cost of obtaining an Access Pass through the mail is ten dollars ($10) for processing the application (the Pass is free). Applicants must provide documentation of permanent disability and residency or citizenship.
  • May provide a 50 percent discount on some amenity fees charged for facilities and services such as camping, swimming, boat launching, and specialized interpretive services.
  • Generally does NOT cover or reduce special recreation permit fees or fees charged by concessioners.
  • Frequently asked questions:
  • Federal Recreation Site:
  • Form to apply by mail:

Thursday, August 14, 2014

Agnes & Dora Review!

Yes! Another product review, why?? Because we love Agnes & Dora, Asia lives in their product and we want to support a company we can't live without. If you haven't noticed, Asia wears fun comfy leggings pretty much everyday. I was scrolling through the pics on my phone and I may have one that she isn't wearing these leggings because she had a skirt on-we stock up. 
They are seriously silky soft, super stretchy, comfy, durable and adorable. Because of their stretch they fit over her diaper...other pants don't always do this.  Also, when she is being changed these make it easier as well. They adjust with height and weight growth, she wears them out before she grows out of them. Asia is very awkward when she tries to climb or sit, she has so much more range of motion in these pants compared to jeans. I feel like she is comfortable all day long! A bonus to top it all off is that they are SO cute and reasonably priced. They are always receiving new items-and the patterns just keep getting cuter and cuter. A&D-Kids Leggings They have Maxi Skirts for children too, which are just as great!
I was in a store today and a little girl was looking for a Maxi that would fit her- Agnes & Dora. 

These products are also available for adults:) Adults have more options! Pencil skirts, Maxi skirts, Leggings, Tunics, Kimono's, and shorts! I live in them too:)
You can buy them online at or find a rep and host a party. There are often patterns at parties you don't see online. Reps are all over the US and in Canada too.

Tuesday, August 12, 2014


Wow, is it the super-moon that makes her super crazy?? Maybe it makes me crazy?? Is there any studies on this? Asia has been so frustrating! It's been a couple days of food fights, temper tantrums, screaming, slapping and poo! Yes, poo-I have done about a zillion loads of laundry in the last few days because she keeps taking off her diapers at night. In the morning everything is a mess, I've had way enough of this! Today I had two loads of her clean laundry on her floor from last night, yes back in the washer today. She is back to throwing her food and drinks if she is upset-or looking for attention. I was told that she even pulled the table cloth off of the dinner table, food and all (twice) at grandmas during Sunday dinner, how embarrassing-and it was with family! She is fighting a lot with my two year old-hitting and slapping, seriously?

On the other hand, she has never in her life given me so many big bear hugs. It is one crazy roller coaster. 

A few things I have noticed lately...

Asia finally get's it when I tell her the battery on her iPad or the phone is "dead"-woohoo! This seems so silly but I swear she did not understand why her iPad would stop working or why I would take it away from her when it did. She would get so angry and have a meltdown every time this happened-this helps out a lot:)

She is a broken record. I wish there was a way to record how many times she says "mama" in one day. It has got to be hundreds. It's pretty annoying-sorry, I should be glad she says "mama" and she just says it to get my attention or show me that she loves me but, WOW. Part of her "repetitive behavior"? It would be nice to have it quiet down a bit.

Asia grinds her teeth and it's really bad. I can see the roots in her teeth and her teeth are just "nubs" right now. It has got to be painful. There is not much we can do about it-just hope that she stops when her big teeth come in. She also hasn't lost any teeth yet. A couple of months ago my husband thought her right front tooth was wiggly. It was hard to tell but I swear that tooth is dying now. It seems to be changing color and I swear it is shorter than her other tooth? Which doesn't make sense if it was going to fall out. I can't help but notice it every time I look at her now, she looks different...

She threw up a couple of nights ago...seizures? food? medication? I hope her EEG may provide some answers to why she keeps doing this.

I am a little in shock that she will be starting 3rd grade next week. I remember 3rd grade very well-- friends, practicing cursive writing, math, it's not possible that she is that old. She has so much to learn yet, so much catching up to do. I guess right now it is still about her being "healthy". Nothing else matters until I know she is physically and mentally well. We can learn math, along with the alphabet, colors and everything else later on:)

She has a thing for sleeping on the floor lately. Every night I put her into bed and she pulls her pillow toward me and motions to the floor. I wonder why? I let her but it seems so much more comfy on her bed.

Tuesday, August 5, 2014

Ear Tubes

Last Thursday Asia received her third set of ear tubes. She seems so "old" to be getting ear tubes and she had a really great year for being healthy however, she has had fluid in her "good" ear since February (or longer). We didn't know if there was infection or not. Both ears, her good and bad, were retracted and both had some fluid but there was no infection. I am actually relieved she got these again. We don't have conclusive results on her "bad" ear, we know she does not process sound in her right ear so the idea of her "good" ear being blocked was frustrating. It has been blocked for a long time too, so maybe her speech will improve even more now that it is being drained! She made lots of friends in the waiting room, she tried to take some lady's name tag off and pretty much pulled her shirt off with it. I don't get too embarrassed by this kind of stuff anymore-I have no control over her impulses and I just have to apologize profusely:) What can I do?? She is very spontaneous.
She did not want to put these socks on? lol.
 She LOVES doctor garb! She always wants to wear the badges, stethoscopes, masks etc. Thankful for good doctor's that go along with her desires:)

Two hands on her ear, this has been her "comfy" pose since she was a baby....what a sweetheart.

Wagon's make everything better. It is always a hard thing to let her go on her own and say good bye in a hospital even when it is something minor. She (unfortunately) is a pro, and doesn't look back. You hate not being able to go with them though...

Next time Daddy is going. This is no sleeping Angel! She woke up out of anesthesia and literally jumped out of bed kicking and screaming. She is getting so big that I can not contain her. She hit, slapped, pulled hair, kicked yelled everyone kept asking me if I was hurt-it was that bad. I know all of the nurses were probably watching my camera because they kept coming out and asking if I was OK, or needed anything, lol. Life is crazy. I honestly can't believe I didn't get a bloody nose. Lessened learned. I have no control anymore, I am too small. She was really grumpy for about 2 days. She is doing great, I have seen some drainage and she was in a really good mood today. Maybe her ears were aching a lot with fluid in them?? 

Sunday, August 3, 2014

Freshly Picked Review

I am doing a review! (it still has to do with Asia:) I am so excited to be sharing about this product and company. I highly doubt that you have not heard of Freshly Picked Moccasins but, if you haven't I am so happy to share. 
So, I was sent an adorable pair of platinum colored moccs for Asia to try out. Excited because they really are so cute and I hoped that they would be great for her but worried that they wouldn't work. Being special needs we have to be selective about her shoes for various reasons and it often eliminates a lot of the fun stuff. I also waited a little while to post this because I really wanted her to try them out.

When I was selected to do the review they had me send in a size, and color request. I will start with sizing. They have a great little tool on their website, it is under links and its called "sizing". Use it. I didn't the first time and I had to exchange. If you use the link it's a perfect fit! It was different than the shoe size I buy her. Color, if you see one you like order it. They sell out so fast, I learned the hard way but LOVE the color I received. The company was so easy to work with on the exchange and completely willing. I am showing a couple of different outfits because she can wear them with anything! 

Short story...when Asia was a baby, she was so chubby that I couldn't put shoes on her. Seriously, she was huge, I don't think she wore shoes until she was 2+.  Her foot was taller than it was long:) I am convinced if this product was around then, they would have worked for her! Because of their elastic design at the opening I think they would fit any foot.  

Asia can not put on her own shoes. These shoes are so easy to slide on and off that she actually tries to do it herself. She's not quite there yet but I think she sees the opportunity in them. (she can take them off) When Asia throws a tantrum she loves to take off her shoes and socks and throw them at you...bonus points, these don't hurt;) Asia doesn't mind wearing these shoes, they are so soft and flexible I wonder if she even knows she has them on. They also stay on, honestly, they don't come off on their own. She seems to love them and when I ask her to go get her shoes these are the ones she looks for. I actually bought a pair for my 2yr old and he feels the same way-he loves his moccy's and leaves them on his feet all day. He's different from Asia where he can run and play hard all day and he can do this in his moccs-they hold up great.
 Asia has braces for her feet/ankles. If she is going to do a lot of walking I usually put her tennis shoes on but her foot brace actually fit into these moccasins. The brace was not secure, it moved around a bit-I think because the brace itself was slightly smaller than the moccasin. Because of the elastic design I bet they would take a ankle brace but I haven't tried that one. If I am putting braces on her she's not wearing these shoes-for me these are for comfort, warmth, protection and small amounts of walking. If you look at the picture though, you can see she wears them a lot from the foot print on the bottom:) 

While I was taking a couple of shots of Asia she saw a little 2yr old boy walking by with buzz light year wings-he was kind enough to "share" and look at that happy face. Thanks Easton!

I can't say enough good things about these shoes. Sizing ranges from 1-10 for kids, this is the only down side, she can't get them forever. They carry colors to match just about anything. Right now there is limited edition shirts and Freshly Picked just started selling a carry-all, which is on my list. Link is below!

Thank you Freshly Picked!