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

Thursday, May 23, 2013

Pajama Day

At the end of the school year Asia gets to do a lot of fun activities. A couple of days ago her class all went to a "trampoline park" where they get to jump in foam pits etc. I wish I could have watched these kids because I can picture Asia not wanting to do it but she came home exhausted! She must have gotten a work out she went to bed at 7pm and I had to wake her for school the next day at 7am. Yesterday they had rocket day and today was pajama day. Asia did NOT like me putting on pajamas to go to school this morning! I don't think she understood what was going on. She kept saying "No No, bus" and trying to take them off. I actually thought it was kind of funny and pictured her as a "normal" little 7yr old girl saying "no, I cant wear my pajama's to school!! No one else will be in their pajama's". I tried to explain it the best I could and when she got home I asked her if all her friends had their Jammie's on too?? She seemed all right:) She is out of school next week-starts a summer program in June.
-Asia has been a little feisty the last few days. I am wondering if it is because she is so worn out or if something else is going on. In the morning and evening she has been slapping in the face, screaming at meals, and kicking when she needs to be changed....again, nothing like she was-not as aggressive and full of rage but man, it sure pushes me over the edge. I am in need of a "break". I'll have to watch her for a few days and see if anything is bothering her. On the other hand...she actually came in to her brother's room and pleasantly tried to play  blocks with us-that was cool because it's out of the ordinary:)

Tuesday, May 21, 2013

Race Day

This weekend we created "Asia's Team" to help benefit children with disabilities and ran/walked the 1mile fun run. We had a really great time-Asia had a ton of family support along with a few "spirit runners" and we were able to help raise a little bit for charity. The weather was a little cold but didn't start to rain until the race was finished. I did run Asia and her baby brother and it was harder then I thought it would be to push them:) Good experience though and I will know what to expect next year-we plan on doing it again. The kids had a great time. Asia & baby didn't make a peep the whole mile until we passed a McDonalds-ahhhh! Then that is all she could think about and it made her a little grumpy when we were finished. Asia got a third in her age group:) and I am pretty sure she really enjoyed the run. Thanks to Grammy, aunts, uncles and all of her cousins that ran with her.
 Race Packets...
 First in line...

 Big Sister...


Thursday, May 16, 2013

Constipation Treatments

Many of you have asked what we are using to help treat Asia's constipation. I was telling my husband that it is crazy how many people are suffering with constipation and it seems like it is only getting worse. I am going to share what we use for Asia- along with what friends are using for their children and any other helpful tips I have acquired. I am listing everything because everyone is unique. What works for one may not work for another. Often a combination of things are the key. Remember to make sure nothing will interfere with any current medications or conditions. You can research all of this a little more-I want to list it briefly. If you have any additional questions you can always email me. I am also listing "natural" treatments vs. a prescribed medication. My goal is to find something natural that works and keeps working. Maybe it will give you some good ideas.

-Probiotics (buy them at your local health food store, usually in the fridge)
-Lots and lots of water:)
-Apple, pear & prune juice
-1 Tbsp dark Karo Syrup in 2 ounces of warm water
-1 Tbsp of coconut or pure olive oil
-1Tbsp black strap molasses
-Additional Fiber: High-fiber foods include cooked dried beans or peas (legumes), apricots, prunes, peaches, pears, plums, figs, spinach, broccoli, or cauliflower. Raw and unpeeled are best.
-Herbs that may help would be Oregon Grape & Dandelion Root
-Dr. Christophers Kid-e-Reg  (bowel tonic-health food store)
-Fresh fruit smoothies (uncooked spinach and fruit)
-Abdominal massage. (see link below for process) You can also have your child lie on his or her back, legs flexed onto his or her belly, and rotate his or her legs in a clockwise direction-may ease some discomfort.
-Acupressure points & Reflexology
-Essential oils that can help with constipation: Black pepper, rosemary, basil, lemon, peppermint, marjoram, Digest Zen, ginger, fennel, orange, rose, sandalwood and more.
-Increase whole-grain foods, such as bran flakes, bran muffins, graham crackers, oatmeal, brown rice, and whole wheat bread. Offer your child whole wheat bread instead of white bread.
-Avoid too much dairy. Dairy can cause constipation.
-These foods can also cause constipation: whole cow's milk, bananas, cheese, cooked carrots, and other foods that are high in fat.
-Honey or Honey & Lemon Juice
-Fruit-Eze: This is a healthy spread that consists of Prunes, Raisins and Dates. Friends say that it works great and tastes good.  Put it on Toast, waffles, in juice etc.   Link:

~When Asia was little and we could get her to eat what we wanted:) Diet did not do the trick to treat her constipation. That is when we resorted to Miralax. She is a super picky eater right now and we can hardly even get her to eat or drink sometimes. To keep her off of Miralax, this is what we are currently doing. Not sure yet which of these steps is the key but it's working. I do see a dramatic difference when she will drink lots of water.~

-Total Digestive Enzymes: This was a recommendation from a friend and it really seems to be working great. She has been taking it for awhile now and I have tried different dosages. Right now
I give her two tablets a day and it's a combination of probiotics and herbs.  Here is the link:

-If Asia's stool gets dry or hard I give her 1 Tbsp of the pure olive oil once a day in her drink and usually after one or two days she is soft again.

-Asia gets medication twice a day mixed with yogurt or applesauce. I usually alternate the two and when she gets applesauce I do mix in honey-not too sweet and no exact amount:) Honey is a natural laxative-it stimulates the bowels.

-Reflexology: I massage her feet- I want a chart to put on Asia's wall...right now before bed I massage essential oils into her feet focusing on the colon & intestine areas.

 There are also good points on the hands.

This is all I am doing right now! Something is working so I am sticking with it until I have to try something else.

~This is a great link for Essential oils for constipation, acupressure points, 7 step abdominal massage and diet.~

Tuesday, May 14, 2013

Disability Parking

Lately, I have been struggling getting Asia in and out of the car and carrying her long distances to get to where we are going-whether it be school, stores, Dr. appointments etc. She is getting so big!! I swear she has grown so much this year-yay! It doesn't help that I am so short and I just can't handle her height:) I use a stroller when I can but, she is also getting to big for the ones I have. I never in my whole life thought that I would request a disabled parking tag but, I did. I didn't even know that I could and that is why I am sharing this. I feel a little guilty because I know there are people who need those parking stalls way more then I do but, I struggle with Asia's hypotonia (muscle weakness) she always wants to be carried and I cant do it anymore. Dad can do that easily-I cant:) Asia has a lot of medical conditions but the Dr. said because she has epilepsy she definitely qualified. My intent is to just use the stalls when needed and I have only used it once-it was when I was alone and she had to go to a Dr.'s appointment. I have to say that is gave me a sigh of relief when I realized I didn't have to carry her through the parking lot. It was so nice. It was then that I realized that she really does have a disability (that could be indefinite) and I shouldn't feel bad because of my parking placard. I am getting a new license plate but I can not get it until my yearly registration is up.

What I did is I talked to Asia's pediatrician first about qualifying then I downloaded the application form-here's a link 
I filled out my portion then dropped it off to Asia's pediatrician to sign. I brought that in to the DMV and they gave me the temporary Placard to hang inside until I can get my new plate. This is a sample of a Placard-I received two (for our two cars) then I will return one when I get the plate.
The license plate will just have a disable picture on it and I wont have to worry about the placard. This will probably be so worth it the older she gets.
~Asia is still doing so well-I love that I have a "mostly" happy girl in the morning when I get her up-she teases and laughs until I can not figure out what she wants to bring on the bus-then she gets mad:)
~She has been biting her arm....argh. Today she came home with this on her arm and I am guessing it was put there to try and stop it?? Good idea.
~I have to say I still have not noticed any recent seizures, I am dying- I can not express how happy I am! I think it's a combo of updated medication dosage a few months ago and no Miralax...If this keeps up maybe she will be able to retain information and start progressing more. We haven't seen a lot of progression this year:(
~Someone at school knows Asia and knows she loves Elmo-she brought this home today, so cute!
~We have our Now I Can benefit Walk/Run this Saturday. It's to raise funds to help children with disabilities and you can register all the way up until the race. I will be pushing Asia and I have got the whole family doing the 1mile, along with a ton of extended family-we should be having a lot of fun. Go Asia's Team! Will post pics.
~We have started learning a bunch of new signs at speech therapy. Asia did really well yesterday, I think it will be good.
~Asia is such a stinker-she was laughing hysterically while I was driving today and I didn't have any idea why until I went to get her out of the car. She gave the baby a open bag of chips and she knew it was going to be trouble:) Look in the background of this pic...
~I have had so many ask what we are using for Asia's constipation...sorry. I will get all that posted next! She is doing fine, no big problems to report in that area-such a relief. That is something so hard to watch your children struggle with. I feel for you and completely understand your pain!
~Asia will be attending the extended school year program. Meaning-summer school. I am actually so glad. She needs it. She needs to have something to keep her going during the day and to help her retain some of the information she is learning.

Tuesday, May 7, 2013

Medical Tattooing?

Medical Tattooing?? I bet this would be a hot topic-Right off people are thinking "what? no way" but, think about Asia's situation and many others...

After hearing about the 3 women who were abducted 10yrs ago and just rescued today in Ohio! It stirs up a lot of questions. Can you even imagine...I pray to never be in any type of situation like this-my heart goes out to anyone who has and it only makes my concerns for Asia triple and I'll tell you why. It's not that I think she'll be abducted-but sadly you never know and you always have to be on guard. My concerns are even if she gets lost, runs down the street, etc. Asia doesn't talk, she can not communicate at all, especially if you haven't been around her much you would have no idea what she needs. I will always have hope that she will someday grow out of this. That she will even be able to talk but, until then what do you do? She has many medical concerns that have to be treated everyday. Asia is very mischievous and she thinks it's funny if she is in trouble. She loves to try and get away with stuff. When it comes to running off, she is out the door on her way to who knows where- as fast as her little legs can carry her. I think she must feel a sense of freedom when she can take off and just "go". You can watch it-Big smile on her face, wind blowing through her hair and walking on her toes as fast as she can:) Scary right?

There is a part of me that says "I shouldn't worry" about others?? and then there is the other part of me that freaks out at the thought that someone would harm her and I would never even be able to get her to tell me what has happened-Argh! One of my biggest frustrations and fears! Once and awhile she'll come home from school with a bruise or scratch and I am totally assuming she fell down (because she does) but she cant tell me. It breaks my heart! Sometimes I'll get a note from school saying she tripped or something like that and I really appreciate it. I have gone through about three bracelets that I have had made. Kind of a "ID tag" with her name and phone number engraved on it but, she keeps breaking them and they get really scratched up so the writing unreadable. She pulls and pulls until they snap. I have had them welded, used the strongest material I could find and she still breaks them. This I did after a situation at grandma's- which I hate to admit happened but, I was doing a photo shoot in the back yard (which is fenced in) and Dad was (I thought) watching her. I think he assumed I had her but neither of us realized the side gate was open. I can't even describe the feeling when a neighbor (which I didn't know because it wasn't my house) walked back and asked if anyone was missing a little girl. Instantly my heart sank and I was sick to my stomach. Turning left in direction, I walked down the street about a block and there she was playing in the yard with several people! Talk about feeling like a terrible parent!! We concluded that the dog barking must have caught her attention and she headed to check it out. This had to be the work of  her angels because if she would have turned right, she would have headed directly onto a very busy road. I say "Angel's" plural because the girl has got to have more then one:) She could not tell this person who she was or even where she came from.

There are a bunch of medical ID alerts in necklace form and bracelets but she will not keep them on. What do you do?? Seriously?  I know obviously you keep them in sight at all times but, what if a "grandmas house" situation occurs? or what if she is in someone else's care and something like this happens accidentally? So scary but realistic. I would love for her to be able to explore a little on her own and be at a small distance. She has a mind of her own and knows what she wants to do and where she wants to go. I just don't know if she knows enough on how to get back home and I have never seen any signs that she can perceive what "danger" is. She even has a really high pain threshold that often, if she does get hurt, I don't hear a peep out of her. This brought up the topic of medical tattoos?? I am curious to know what people think. I haven't seen anyone do it. Is it completely wrong? I guess there is the concern that she may not need something like that forever. Then I was thinking maybe there is a "henna stamp" I could have made or maybe I will just start writing with sharpie on her arm (which is more realistic, and I will most likely start doing it especially with large public events). She does chew on her arms though (which we try to stop but cant) so maybe henna and ink would wipe off? Implant computer location chips? How far do you go? Thoughts? Anyone have any other ideas?? I would love to hear them:)