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, June 28, 2013

Asia gets a new ride!

Woohoo!! I am so excited! Asia got a new "ride" today. A special needs stroller that looks pretty "normal". We were worried about getting one that looked to "medical" but she is getting so big and really a regular stroller isn't cutting it anymore. Her feet have begun to drag on the ground, she's too big/tall for the seat and its just uncomfortable for her. The idea of taking her anywhere for the day (Zoo, park etc.) is to overwhelming. She can not do long distances on feet and she loves to cruise around in a stroller-it calms her down. I am excited to give it a try now. The stroller does look a little medical-tons of straps etc. but not too bad. I am going to remove the foot straps. It tilts-so she can lay down. Headrest and footplate adjusts up and down-I guess I should say everything is adjustable. It's made so it will last her several years of growth. It's lightweight and collapses pretty compact so it will be easy to take in the car. It is also approved for transit which means-if she ever needs to, the stroller can be loaded straight onto a bus etc with her in it and be strapped down. As soon as she saw it she wanted "on" and then she didn't want to get out! She got her books and we gave it a quick ride to the park and it handles amazing-even over grass. I guess it should handle amazingly after what it costs. These things are not cheap! and took a couple of months to get. So how did we get one? I didn't know this until recently but, some insurance benefits will actually cover the cost -if it is needed for the patient. Asia's PT and Pediatrician had to prescribe/write letters saying that it was a need. The only thing they didn't cover was the canopy which I had to pay for.
Going out!

If you can't tell...this is a happy face!

I have had a lot of people already ask about this stroller/wheelchair. Because it is built for larger children and it doesn't look like a wheelchair.
It is a   Convaid Rodeo Tilt-In-Space chair.
If you Google search Convaid Rodeo it brings up a lot of information and dealers or where to locate a dealer.

Thursday, June 27, 2013

11th Annual Angel's Hands Fundraiser June 30th

If you live near the Salt Lake City Valley there is a great fundraiser to benefit children with Disabilities going on this Sunday June 30th! Enter to win a 2013 Harley-Davidson. You can enter online until midnight June 28th.
Link to enter for Harley
Motorcycle ride begins at 9:00 am from Timpanogos Harley Davidson.

Thursday, June 20, 2013

Swim Lessons

This is the third year Asia has taken survival swim lessons. It's a intense 10 minute lesson to help her find her "safety place" when in the water. Her swim coach gets her use to the water, putting her face in it, no plugging nose etc. Then learning to roll to the back floating face up and relaxing. She is also learning how to look in the water and find a wall to reach for. Asia knows what to do and does a lot of the work herself. She still gets a little panicked when her head is underwater but she immediately tries to roll to her back and put her face up. Today her coach mentioned that she could tell she (Asia) knows what to do, you can see it in her eyes-she just has a hard time getting her body to move. Asia can not swim, her balance and coordination make it pretty difficult. If she were to fall in the water, or drift into water that was to deep to stand I want her to be able to be safe. The first year lessons lasted for a few weeks or so. Last year we just did a week (if I remember right) and this year we will start week 2 on Monday.  It has actually been pretty surprising to see what she is able to do herself. She fights getting in the water but she does need the skill to float safely. My other son does the lessons and I am starting my baby next week as well. I'll try to get a video next week. If you want more info please email me and I will get you a name and number. The swim coach is amazing and so patient, I definitely recommend her. Asia cries through most of her lesson, throwing a tantrum here and there and her coach is so patient. Asia is happy when she is done:) Claps and says "bye pool":)
~Asia started summer school last week and is not liking it:( Her routine gets thrown off so fast that just having a couple weeks off of school has not helped. Summer school is only 3 days a week for 3 hours. Her teacher (who is new for her) is saying that she is crying most of the day, wanting to go home. I may pull her out if the last couple of days were rough-I need to check. In the fall she will have the same teacher as last year and will have some of her same class mates. I just need something to keep her going during the day or she has little interest in doing much of anything...

~So a few weeks ago Asia got the 2 day flu. After she felt better, she started to refuse to eat or drink anything that was working for us. She is still refusing even now. She is being extremely picky and it is so difficult to get her to eat. Since then, I have been noticing a absentee seizure here and there, and more tantrums then normal. I need to find a way to get her appetite back. I think it is affecting her physically and mentally. I may look into food therapy-any one have any referrals???

~Her legs are getting so long!!!:) She is still pretty short but she is growing and the longer her legs get the harder things get on me. I can barely change or dress her-she thinks it is funny that it is so easy to kick me in the face or neck. Sometimes she does it in slow motion-I think she is doing it just to see what I will do...

Friday, June 14, 2013

Brochure for 2q23.1 Microdeletion Syndrome

The new brochure is out for 2q23.1 Microdeletion Syndrome. The Unique organization is so great to put literature out for people with rare chromosome disorders. These can be printed  and shared with Doctor's, teachers, family members, friends etc. Unique runs off of donations, fundraising and sponsorship. First link is for Asia's Syndrome-there is a pic of her in it.

Brochure for 2q23.1 Microdeletion Syndrome

Next link is for the Unique organization.

This link lists all the rare chromosome disorders they have information on. If you are looking for information on a rare chromosome disorder check this out. There is a lot of information here.

Monday, June 10, 2013

Day Camp for Special Needs Children

I don't even know why I am doing this post right now but maybe it is so I can get the day behind me. I am exhausted. A few weeks ago I registered Asia for a "special needs" day camp to be held at Camp Jeremiah Johnson. I could be there with her as well as her Dad but, he had to work so I figured I could handle it on my own:)

I had a list of activities that she could be involved in and I was excited to try something new with her and thought it would be fun to get her out of the house and spend the day in the mountains. I am always looking for activities for Asia to try because she usually can not be involved in regular ones. Activities were: BB Guns, Boats, Archery, Games, Craft, Rockets, & Science Lab. I had no idea she was going to be so (I should put SO) difficult. She spent a lot of the day like this...

Maybe I misunderstood what the camp was? All I know is that when I signed up I thought it was just a "special needs" day camp and that it would cater to children with special needs. I could only pick out a few children today that may have fallen into that category (I know I probably didn't recognize all of them). It seemed to me that the majority were just normal cub-scouts and all "boy" cub-scouts. That would have been OK but all the activities catered to these children who didn't need special assistance. Asia really couldn't do any of them and it seemed as though the "leaders" didn't really know what to do with her. I knew I was going to have to help her but it was pretty hard. All conversations were directed to "boys" even though there was a handful of girls there participating. Asia started the day out grumpy because she thought when I was getting her ready this morning it was to go get on the bus and go to school. When we got there I had to carry her EVERYWHERE or she would throw herself to the ground and cry:( My arms got a insane workout today. I felt bad for her but I decided she was going to stick it out until the end. If it was up to her she would be at home in a bed with a iPad. Maybe someday she will remember the BB Guns and how to shoot, how to paddle a boat or the Archery? I just never know. She hated the loud noises! Some of her Autistic-type symptoms coming out. When the kids would yell, or they would blow the loud horns she would flip out and cry.

After opening ceremonies the first activity was BB Guns and she refused to wear goggles-not a surprise:) I wore them and helped her shoot-I have to say we did pretty good knocking down cans. Second activity was Boats and she actually liked this one. When the boys were putting on life vests she said "me, me" and wanted to go.

 She didn't make a peep on the boat. She thought it was funny when the camp leader would pretend to be tipping us over (of course she would:). I tried to help her paddle the oar but when the group really needed some help she sat in the middle. When we were done she handed in her vest and said "thank you". Maybe this one thing made her whole day and maybe mine as well.

Third activity was Archery-she really was not liking this one. It was starting to get hot and I think she was starting to get hungry. I tried to help her with this but only once. She kept trying to grab arrows and throw stuff down so we sat out for the next couple turns. She really started her tantrums at this point, throwing herself down on the ground and she got really difficult-I was really tempted to go...

I didn't leave- and the next activity the boys made wooden airplanes. The camp leader got beads out for Asia and she made a bracelet. (That was nice of him). She noticed they were cooking lunch next to us and really wanted to eat. They served chips and soda with the burgers. This made her happy even though she looks like she has a serious scowl on her face:) Chips are her favorite!

After lunch they made rockets-she was so done with camp at this point. I still made her do it-am I so mean???:) She did like firing the rocket.

Last was a Science Lab demo-I didn't even try with her. We were sitting right next to the loud blow horn and when it went off -it knocked her flat to the ground in a panic-I felt bad. We walked up to wash her hands off and cool down. They handed out a questionnaire to fill out and I did that-then it was closing ceremonies and I decided to go. I tried to be honest on my questionnaire-not to be frustrated just that it really didn't cater to "all special needs".  She got the experience I wanted her to but I don't know if I'll do it again unless she progresses. She is getting to big to carry around and strollers would not be a option there. She got a bead with each activity and a fun tag. It would be a great opportunity and a lot of fun for boys with special needs that are a little more advanced then Asia. It is great that they offer it.

I did realize something today-this cute little girl asked what Asia's disability was called and I sighed...because there is not really a "name" telling people she has 2q23.1 microdeletion syndrome gets a little tiresome. Maybe one day they will have a name that's a little easier to say:) When I was leaving, I turned in my paperwork and they switched Asia's tag out for one that was more for a "girl" which was cool. I also got a couple of really nice "props" from the adult counselors for bringing her. I am sure I looked beat and I so appreciated those nice comments. Maybe all this hard work will pay off someday...

Tuesday, June 4, 2013

Support Groups

After Asia finally received a "diagnoses" this last winter I set out to find some support groups. I wanted to connect with families that could understand the frustrations that we were going through but, mainly I needed ideas on how to help Asia. Feedback from other parents can often "save the day".  There are many support groups-some local and others are not. Facebook has a lot of groups-some that have to do with unique chromosome disorders, epilepsy, diet etc. which are great.  I came across a Facebook group that was specifically for Asia's diagnoses 2q23.1-this group has really helped a lot. There are so many similarities in these children that it really helps to discuss topics with this group, vent, or ask for idea's. Especially when the medical field has nothing to give you. There are so many Facebook groups now that there is probably one that would fit almost any need.

I also was introduced to a local support group by a friend. This group has educational meetings, parent meetings, mommy lunches, fun runs and activities for the kids. I really searched for activities outside of home and school that Asia could participate in. Going out and participating in public activities is a whole different experience with a child who has special needs. I worry about her behavior, is she going to throw tantrums, scream, pull some ones hair, throw things... the list keeps going. It may be very difficult to find activities for special needs kids and I have found that there are actually quite a few to be a part of.  I never had information on any of this and with these amazing groups and connections made- I do hear about them. With referral from Asia's physical therapist, we applied to another local support group that is so great for having activities for these special kids. We just joined and they have had something special to do each month so far.  I LOVE having something fun for her to do-this changes our world. Finally some things just for Asia.  She has new friends with their own unique disabilities and she gets to be part of a group as herself. There is so much understanding in these groups and no one will judge on behavior- so there is no hesitation to go out and join the party.

If you need something like this you could email me and I can get you some info. I live in Utah so my support groups may not work for you but, I am sure there are groups wherever you may live. Look for ways to become connected to others in similar situations-when I did that I really starting to hear about different types of activities, meetings, education, product info, therapies & treatments, diet, etc.

This last weekend one of our support groups treated Asia (and her family) to a REAL Soccer game in SLC. I unfortunately had to go out of town but I heard she had the time of her life! Before the game her group got to go out on the field for the National Anthem and I am sure that was thrilling for her:) She got loaded up on snacks and daddy decked her out in official MLS gear.
She's actually really happy in this picture-she puts her hands up to her face and gets all serious when she's excited:)