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

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: http://store.usgs.gov/pass/access.html
  • Federal Recreation Site: http://store.usgs.gov/pass/PassIssuanceList.pdf
  • Form to apply by mail: http://store.usgs.gov/pass/access_pass_application.pdf

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 http://www.agnesanddora.com/ 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

Super-Moon

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!

Tuesday, July 29, 2014

The color Blue.

I have been taking some time to actually "work" these last few days and my house can prove it! I also want to spend a little time on here-keeping Asia's journal for her. I can clean when the kids go back to school right??

"Asia" moments. Found her trying to make "toast", several slices and her hands in the toaster-AHH! Seriously and thankfully it was unplugged. I was also doing dishes, you know how you'll take dirty dishes out of the sink and set them on the side to load into the dishwasher...she walked up and drank out of one of them-and said "mmmm". In horror I looked in the cup and ya, I should have be terrified. A thick sludge was in the bottom of the cup, I can't even think about it anymore. She isn't sick though....

It's impossible, let me emphasize "impossible" to paint Asia's finger nails. She always wants it done and I rarely do it because I know it will be a enormous mess. It has been awhile since I tried so I thought we could. Maybe she has the ability to sit still longer or have more patience, I was thinking optimistically:)  I asked her what color she wanted a couple of days ago, and she said "blue". WHAT? Blue? First of all she knows the word "blue"? Does she really like "blue" or is it a word she knows? I have always told her that her favorite color was purple because I didn't know! I will say blue now:) So I got the blue out and she shook her head yes-awesome right?! One of those moments that was amazing to me and to anyone else it would have been so normal. So we tried, complete failure. I did one of her hands, tried to use a blow dryer and hold her hands down so it could dry. Still a mess. Yesterday I went to the store actually looking for quick dry polish, I wish there was a "healthier" alternative but this was not going to work with out it. I also got a quick dry spray. I was determined to do this for her. For some reason, the "blue" took waaaayyy longer to dry and she grabbed the polish brush with her hands and wouldn't let it go, needless to say it was everywhere. But, it was a lot better with the quick dry polish! She only got two blue nails though. I will have to do it when she is asleep.
Asia had a EEG yesterday. Asia actually likes going to the doctor. She asks to go to the doctor sometimes and I wonder if she really doesn't feel good or if she just wants to go. There is no question that when she goes to PCMC she gets spoiled, I think she expects blankets, toys, books etc. now when she goes. So grateful for all of the staff and volunteers that have made this a good experience for her. Asia, her Dad and I got a 30 minute nap after a series of strobe lights in her face. I couldn't watch-they give me migraines. I hope we got what we needed, I will update on results!
 We told her she was getting her hair done-it worked. I am positive she would have ripped them off though if I wasn't holding her hands. New adorable blanket! She was given a choice and she picked it-I love the decision making!

  Hair after we were done-love the style:)

I had the CUTEST moment with her when we were eating afterward-she even picked a blueberry muffin out to eat and ate it. She was offered bites of our food but she didn't want them. Sometimes I think we forget that she really does have a mind of her own. Asia is so amazing when we are one on one-I think she enjoys it as much as we do. She is well behaved, engaged and has so much fun. Anyway, she was trying to tell me something. I was trying SO hard to figure it out, it probably took me 5 minutes of throwing out words. She would look at me in the eyes and say a word that could have sounded like "doctor", "closet" etc. and I just couldn't get it. Finally, I looked at her in the eyes and said "oh", with a smile on my face and I said "chips". She started laughing and threw her arms around my neck and gave me the biggest hug, I don't think it was because she was going to get chips I think it was because I figured it out-and "duh" I should have guessed that word in the beginning. She was so excited about it-happy that I "got" it, and I did get her some chips:)







Friday, July 25, 2014

Breaks are hard

I have said it many times...but I'm serious. Asia does so much better during the school year. Breaks are hard on her. Even though she is in summer school ESY, which runs 3 days a week for a few hours it's not enough and it ends next week. It's like she doesn't know what to do with herself. School gives her a routine, a challenge, excitement and home is "boring". It's hard for us to go out and do things right now. With little ones at home and Asia acting like a 2 year old most of the time we can't go anywhere unless Dad is home to help us out. Swimming or parks are virtually impossible, she runs one way and my two year old runs the other. I have to do things with them one-on-one, so that requires finding sitters. So in the home, she is the unexpected tornado that whips through and destroys everything in sight-and she finds it funny! Argh! She dumps out the cereal boxes, rips the wallpaper off her walls, she starts things in the microwave (things that should never be in a microwave), she tears up books, empties the fridge and cupboards, throws stuff in the toilet, she colors on the tile floor, she'll get 10 slices of bread and smash them in her hands, if the door is unlocked she'll run away, she doesn't understand what "glass" is.... and really the list could go on forever. You have to watch her like she is "2". She only ever wants my phone, to look at the pictures on it. I wish she would find a new interest. I just hate having her sit all day on the phone. She flips out when she can't have it.

She brings me back to the reality of her syndrome when she tries to eat things she shouldn't like the flowers outside, soap or crayons, throws her plate of food at you or dumps out her drinks, I hate to admit that this has now happened three times but if I step out of the room while she is bathing she finds the toilet plunger to bathe with-ahhhh, I can't think of anything more disgusting, can you!  She is not sleeping very well? We had to replace her french door on her bedroom to a regular door for fear of her breaking it-she bangs on her door with her hands or toys to try and get your attention in the middle of the night. There are some nights I am surprised if she gets more than a few hours of sleep. Not sure what is going on, maybe it is seizure activity. Most summers I am sad when school begins but this year I am so ready. I can't get a single thing done right now-my 6 year old will even be in school all day:) After all of this, life with Asia is still better than it used to be:) At least she is more pleasant, happier and she now will walk up behind me and give me the hugest hugs and rock back and forth making a humming sound. She says "love you" and want you to hold her like she really is "2". She even initiate kisses-which is so sweet. This all helps when I am pulling my hair out.

Thursday, July 24, 2014

Where to start....

To be honest, I am not even sure where to start in order to catch up. I will start with now and I will try to be better...Summer 2014 and doctor's appointments.
The last few months have been completely chaotic with events that I can not go into detail about right now but lets say it has been one of the hardest times in my life. I will focus on Asia. She really has had such a great year! Biggest improvements were noticed when she was completely weaned off of Topamax! The girl got her appetite back and has gained over 10 pounds! Her pediatrician at her last appointment was flipping out at her growth chart. She went from always being in the 1-3% tile in weight to the 22%! The graph they print out went from a  tiny zig-zag to a line going straight up. With this I have noticed more energy, strength and she does not get sick as often. And then there's the speech. Wow, the speech-people are in shock. She still does not "talk" but she tries so hard, she makes conversation and says new words all of the time. I am so hopeful that she will keep progressing. Also, the behavior has improved. We can go somewhere and be pretty confident that she will not flip out. Many have commented on how calm and happy she is. These things make the world of difference in day to day life-I can't wait for the day that I can take her off of Depakote!

On the other hand...we weaned her off of Topamax because we didn't notice many seizures in the last year. I may have been wrong. What I have been noticing though was happening before we weaned her so I don't think weaning her had any effect on seizure activity. Last school year, I would randomly get a call from her teacher or the bus driver telling me to come get Asia she has thrown up. Bummer she was sick but ok and I would go get her. The same thing would happen at home here and there, she would throw up but I was confused at what was wrong because she didn't seem sick, she wanted to eat right away and no one else would be sick in the family. It wasn't until a few weeks ago I noticed her eyes looked weird. Kind of half closed sometimes, looked like she may have a headache but then they would go cross-eyed or one would drift out to the side. She would start acting a little strange, even put her hands to her head or face and guess what, she would throw up! Have I been missing the seizures?? Migraines? Seems impossible when I have seen so many and so many types but nonetheless we have a EEG next week and a Neurology appointment.
The EEG is only the hour long one, which we never seem to see anything in the hour EEG-really it should be overnight but we will give it a try. If she is having seizures it only gives me a push to start her on Charlotte's Web-because as of July 1st it is legal you know:) I also hope this will replace her Depakote as well.

The poor girl has to get ear tubes again. Her third set and I thought by age 8 she would be over them. She has not been passing her hearing tests on the left side which is her good ear. We suspect there has been fluid in her ear since at least February-could have been longer? Hey, maybe this will help with speech too?

New braces are ordered for her ankles too. She out grew her last ones which we had cut down to be just a foot plate and watching her lately (maybe it's all of the new weight) she is not walking real well. One ankle is pronating quite a bit (bending inward) and she seems a little off. This is a new brace, doesn't cover the whole sole of her foot so it gives her some freedom for flexibility and then just above the ankle. It may be a good option, unless it helps her to run away faster:) I think its a new product so I will post a pic when I get them in.

My summer has unexpectedly filled up with doctors appointments. I guess I may as well do it before school starts right?

I am also going to mention this-because I didn't know and it could have saved me thousands of dollars over the years. Right now Asia is on Disability Medcaid. Someone mentioned she may be able to get diapers covered under insurance and guess what? I just got my first months supply delivered-I am a little shocked. I really had no idea. She has out grown diapers so they are a pull-up but that helps out a lot!
Aside from the medical, she is finally starting to tolerate the pool, Yay!!! She doesn't mind getting in for a little bit-she has every year past.

Saturday, July 19, 2014

Asia can ride a bike?!?

I am terrible at blogging.....I have been so busy with my other projects that I have not made much time to post updates on Asia and I feel guilty every time I think about it. I guess I shouldn't feel bad? Things are busy but I feel sad because I want to document those things that Asia can finally "do" or updates on her health or syndrome. To share info that might help others....you know. I will catch up on some of them soon I hope. I also kind of figure anyone that looks at this blog is already involved in Asia's life somewhat and already knows about everything I post, right:)? I definitely want to share this. Remember last year, Asia was gifted with a special needs "bike". She was no where close to being able to ride it. She couldn't pedal, no muscle strength. I really hoped that someday she could. It would be amazing if she could ride along her brother outside and actually "play" like a normal child. Well, this year we pulled it out and guess what? Asia can ride her bike!?! I was utterly in shock. She doesn't have steering the bike down yet but I don't think it will take much time. She was in bliss and I teared up, happy tears.
video

Saturday, July 5, 2014

Angels Hands Annual Event!

This is such a fun event! July 19th Murray City Park. Hope to see you there!!