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, July 31, 2013

US Autism and Asperger Conference

If you have a way to Salt Lake City, Utah- there is a 4 day Autism & Asperger conference that includes over 35 amazing experts including Temple Grandin. August 15-18 , 2013. I am trying to figure out a way to go but, this includes a sitter for 4 days not to mention all of the "end of summer" activities that are already planned... Registration is going on right now. There is a link below that will take you to all of the information and registration.

Tuesday, July 30, 2013

Family Trip, Appetite and Hair Cuts

I haven't posted for a bit! We went on a little family holiday and also my computer crashed....I think my computer crashes more then anyone else I know. I guess it may be because the kiddo's can access it and do who knows what to it!! We have been trying to get it figured out, so I'm temporarily using the hubs computer to post. The hardest part about traveling with Asia is she always seems to get constipated-even with her supplements:( She also gets hot and grumpy-she wants PBS to work on the iPad and it wont because of no WiFi service etc. She can be difficult to travel with...but, we got to spend time with friends and family and spend some time outdoors. We spent the day on the beach and this is how Asia rolls...

Asia wants to lay down covered up on the beach. She is so calm you would think she was sleeping but she is just watching everything that is going on. If you try to make her eat, walk around, get in the water, or play she throws a huge fit but she is good if she can lay down and cover up:) It wasn't very crowded and that always helps her mood.

I grew up in Southern Utah and while we were down there I thought I would try and locate some of my past medical records. I had a illness through most of high school that required lots of testing including a bone marrow test, kidney biopsy, lots of blood work etc. and I was curious to see what kind of lab results were discovered, just to compare to Asia's. I found out that the records do not exist anymore...all destroyed, too bad. I am starting to consider having some genetic testing done. Our geneticist claims that none of Asia's problems are related to us (her parents) but, from what I am starting to hear that may not be the case. I'll let you know how that goes...

~Asia has kind of been a little terror lately. She has started this new thing where she just throws herself down, no matter where she is if she is upset about something. She sits down in the middle of the road, stores, school, everywhere and screams. I am continually having to pick her up off of the ground lately-hope this stops soon. She is seeing the baby as a target to unleash her frustrations-he's smaller and easily accessible to hit on the head (poor thing, he takes it well though). I also cant leave her alone for to long, she empties out all the dresser drawers, fridge and pantry-exhausting! Add this to all the normal day-to-day behavior and I am burned out. Doesn't help that tomorrow is the last day of Summer school...

~I mentioned a couple of posts ago that she wasn't eating very well, and had lost 2 lbs-which is a lot when that is almost all she gains in a year! She has gained almost 1/2 lb back and her appetite has picked back up again. I wish I knew why the change. I am glad that I don't have to find alternatives to get her to eat. She is actually being very unpredictable with food-she will randomly just grab things and shove it into her mouth.I have started setting things out on the counter top just to see if she'll eat it. Maybe she'll eat better if I am not trying to give it to her.  She reached into the salad bowl and just starting eating lettuce with her hands, lol...? I would think that the texture would bother her ?

~Seizures have been good for the last couple of weeks. Her appetite picked back up and I saw a immediate improvement with her seizures...there has got to be a connection right? Dr's may tell you otherwise.

~Asia's Dad gave her a new hair cut. I wanted to finally get some 7 yr old pics done of her and we got her hair done first. She ALWAYS wants to go to the salon and have Dad do her hair. She loves going-blow drying her hair seems to calm her. This pic is at the salon. I have to keep her hair tied up or she chews on it but it is beautiful down...beautiful girl!

~I did take some photos-I will get some up as soon as I can access my computer! There may only be one to use-I have said it before but I totally mean it and will say it again, Asia is by far my most difficult client:)

Tuesday, July 16, 2013

Smart Apps For Kids

A friend shared this site with me and I have to pass it along. Not only do they review apps for iPhones, iPads, Android, even special needs. They have a Free app of the Day and often it is more than one. They break apps down into Free Apps, Best Apps and Age.  It is a great way to try out apps and then if you don't like it you don't feel bad for deleting it:) They have a email notification on the site so they will notify you of the Daily free apps.  There are some today-I down loaded a bunch.

Monday, July 8, 2013

Guest Post-Julianne!

I am excited to post about another 2q kiddo-Julianne! Her mom was so great to share her story with us. She has some great info and great ideas, thank you so much!!.....

My almost 7 year old daughter Julianne Belle was recently diagnosed with the micro deletion 2q23.1.  This came as both a shock and a relief since we have known since her birth that she was "different".  To go back to her birth I had a healthy pregnancy and delivered a normal sized breech baby by c-section at 39 weeks.  She was not able to hold her own body temperature and was jaundice but we were told that was normal.  Julianne was born with a very flat back of the head.  She nursed for 2 weeks and then refused breast milk for formula only.    She was colicky and screamed often.  She also slept quite a bit and didn't seem very alert even months later.  She missed all the milestones but the big ones were eating table foods, crawling, walking, and talking.   We did not have a helpful pediatrician at first so for the first 2 1/2 years I was told all her delays were my fault for being an at home mom and not putting her in preschool.  We knew this was not true but this was our first child and we were new at this so we felt very lost.  At almost 3 Julianne was diagnosed with classic autism.  This was a very very tough blow.  I didn't know anything about autism but we learned.  The problem was it didn't feel quite right.  We would say Julianne had "autism plus" because she also had this major feeding issue.  Julianne even now at almost 7 can not eat pieces of food and chew them only pureed food she can suck off a spoon or drinks from a straw.  After the diagnosis I put Julianne in everything from occupational, speech, feeding, horse riding, dance to gymnastics.  Julianne was on the waiting list for a medicaid card and a savings bond for products.  Due to her severe abuse like biting her hands, pulling out her hair, grinding her teeth in half over the years, and hitting others she was accepted in the medicaid program at age 3.  At age 6 the state required her I.Q. to be tested and it was 106 so she was immediately terminated from all benefits because her number was higher than 70 (mentally challenged).  When I had been taking her to all these classes and meeting with case workers every month one lady gave me a number to a doctor named Dr. Jerry Taylor who works with kids with autism to improve their behavior through diet.  I also had heard about these talking shots that DAN! Dr's like him could offer us.  So at our first visit with him he showed us a video of a couple who were explaining how their child had regressive autism and had changed and how tragic it was for them.  At the end of the video they said they had done biomedical intervention and he was so much better now.  Then their son came on the camera and they asked him to pick a song and he thought and sang "Twinkle twinkle little star".  Then his parents said thank you and he left and the dad cried when he told the camera how amazing that really was how this boy with autism thought of his own song and nailed it.  So we were on board and willing to listen to Dr. Taylor.  The problem was all these visits and supplements are not covered by anything unless they were a prescription and most were not.  We tried anyway.  We did urine tests and found she had no vitamins sustained in her body at all like she had never had nourishment before.  She had heavy metals (from the shots) like mercury, aluminum, lead, and arsenic.  She also did not have good levels for detoxifying her own body.  So the plan was to build up her nutrition to make her strong enough to kick out some of the toxins in her body.  We supplemented and then treated the bad stuff and saw her behavior changing immediately.  We got more eye contact, more understanding, better sleeping at night.  She learning sign language and some pecs.  Julianne always loved when i would read to her so we did this a lot and very young she was learning the sounds of letters.  After a short time of this biomedical Dr. Taylor said it was time to try the B12 vitamin shots.  The were for me to give her.  Yea that is just what i wanted to give my crazy child every 3rd day.  We did and only after a few months when we increased the magic happened.  SHE TALKED!!!  Not just a little but sentences and all the things she would sign  had words.  For a little while we did signs with words and then we dropped the signs.  Her words are rushed and mumbled and she is limited verbally and wants to just say yea or milk but I expect her to say full sentences everyday and she does.  One month after she spoke she started sounding out signs in public and she learned EXIT.  That was her first word that she read.  Then an explosion of reading began and she could read it all at about a 12 year old level.  She was very gifted with this.  At 3 years old I video taped her  not only talking but reading now too.  She would repeat back a book we read to her exactly and had a very sharp memory.  Her comprehension was not so good though.  She didn't understand why characters in a book were mad or happy or what would happen next.  She also doesn't understand dangers.  She never looks down when she walks and is very wobbly so she falls and runs into things but the worst is she will try to walk off those 8 foot edges on the play equipment at the park.  I am very careful to keep her with us and safe at all times.  My husband has been a big help.  Every day they have daddy daughter play time and she knows it.  She hates when he has to go out of town and they can't.  She loves play/doh, stickers, and books.  She will bite (but not really chew) paper and panic to be rescued but not eat table food still.  She is now old enough for school and we chose to do the 1st grade Life PAC curriculum for our homeschooling and I teach her.  Science, history, and language arts are wonderful for her and she loves them.  Her art is sometimes mean but mostly colorful and creative.  Gym is hard since her body doesn't quite move like it should and her left side seems to be less able compared to her right side.  Her hands are very weak so even holding the pencil is very hard and her hands tremor so when trying to write sometimes she gets very mad at herself.  Math is really hard but she is starting to remember some of her math facts in addition and subtraction and can even add up to numbers in the thousands if the numbers are not too big.  Recently Julianne has had success in toilet training that we are over the moon about.  She can pee in the potty all day long now!  Even for road trips.  She is very independent for this too even down to the hand washing and turning off the light.  She is pretty forgetful but she tries so hard.  She also is eating a new food that I am makes me happy.  She is eating a little homemade organic hummus. Her other foods are goat milk, coconut yogurt, store hummus, sunflower seed peanut butter, pureed avocado, large variety of fruit smoothies, and still a little Gerber pureed food.  Julianne is very very tired and whenever I turn my back she is lip-rubbing her sleeves and trying to pass out.  I spend most of my day playing games, reading to her to help her eat her meals, playing board games, reading and taking her to museums and the library.  She loves to feed the ducks at the pond right now.  She flaps and hoos when she sees them eat the bread she threw.  It is kind of sad because she is giving them a food she never could eat.  Julianne also has space out seizures and has since birth dozens of times a day.  For 2 weeks after a flu she had medium seizures with twitching and then they went away.  Julianne still is very sweet even though she has her terrible moments she says I love you mommy and she prays to God and says thank you for my ears for without them I could not hear.  She also asks God to help her with her madness as she calls it which always sounds so cute.  She is my only child and I love her very much.  This is what I do now.  i care and teach her the best I can.  Some days we just do face grabs and splats on the bean bag chair and big bear hugs to help with her sensory issues and other days are more productive with home-schooling and chores.  Even she has chores like putting away her own dirty clothes.  She is our little stink.

Saturday, July 6, 2013

Temporary Draw-on Tattoo.

I posted a little while back about Medical tattooing, writing on Asia with a Marker etc. to keep her safe, because she would never be able to tell anyone about herself. Here is a great idea, it's simple and there shouldn't be any side effects! My sister in law forwarded this Pinterest post to me and it's awesome. Below I have linked the blog that it came from. Cherise has come up with this fabulous idea for a DIY Temporary Tattoo For Kid Safety. This is her image as well. Basically draw with a fine point sharpie or pen, or use temporary tattoo paper-write your childs contact info and cover it with liquid Band-Aid. A water proof tattoo that will last a day or so. Great for going to the zoo, mall, traveling, the park, visiting a friend or family member or even to do when your child has a field trip. I almost wish that the liquid Band-Aid would last longer then a day:) Thanks Cherise!

Happy 4th of july!!

Happy 4th of July!

We love the 4th of July! I think it is one of Asia's favorite holidays-which I find a little strange. She has "noise" issues but LOVES fireworks. She loved the parade once we found a spot that was cool and not too crowded. Our first "spot" she was sooooo moody! Throwing stuff as people walked by and screaming.

Our family-big sister was our of town....
 I have mentioned before that she loves to go "fast" and "high"-she begged to go "on, on, on" a carnival ride. Not the kiddy rides she wants the bigger ones-loves them. I wish I would have had my camera on me to capture the look of bliss on her face the higher and faster we went, as she clapped and said "yay!" It calms her down and fulfills her sensory seeking "itch".  We had a great day!


 ~I am excited to tell you that I am going to have my first "guest" post happening in the next day or so. My new friend Cathy:) contacted me after her daughter was just recently diagnosed with 2q23.1 (2q). I have asked her to share a little about her beautiful daughter.~

Wednesday, July 3, 2013


I love summer! I am already getting a little sad about it ending even though we have a couple months to go:) Asia loves to hang out on our patio with a pen, her books, iPad and Costco ads:) I love this picture of her that I took on my phone. I got it when she gave me a split second of calmness and actually looked towards me. Poor thing is off lately. Not eating well and having some longer seizures. I am not sure what is going on. She has had some good tantrums but I am pretty sure it's the seizures making her feel weird. She doesn't do well in heat but I have been doing well at keeping her cool and always forcing the water. The only thing I don't like about summer is that I often have sunglasses on and when she slaps me in the face she hits my glasses and it really hurts:) I am over getting slapped:) She finally settled into her Summer school routine and seems to be doing well there.

We went a saw her pediatrician yesterday because I have been so concerned about her eating. Asia has lost almost 2 pounds over the last couple of months-she is so tiny! Her Dr. wasn't to concerned yet-he thought she still looked "good".  He king of ruled out reflux or food sensitivities. She will only take a couple bites at each meal-and she does this while gagging and choking! The most food she gets right now is when I force her because she has got to take her vitamins and seizure medication. This is usually mixed with a yogurt or applesauce and I have been giving her extra just so she will have eaten more. (This is just a FYI but my pediatrician said that if you are having a hard time with your child taking the medication you can mix it with cool whip and it goes down really well. I don't do a lot of cool whip but, if she was eating really well and not handling the meds I may consider it.) She is leery every time I  try to feed her, especially with a spoon-she must think it's medication. Even the foods I had "down" for her like avocado's, yams, etc. she wont eat! I wouldn't be so concerned but with her health situation I really think she needs a good balanced diet. I question her seizure medication as well....I know there are x amount of people taking it but one of hers is Depakote and I have been seeing it in the news lately-argh!  So, he (Dr.) has recommended some food therapy-probably done by her speech therapist right now. He thinks it is more of a behavioral issue, which is probably is. Because she has a hard time with texture and chewing-I think the thought of choking probably stresses her out as well, she would rather not eat. A couple of years ago Asia was in the hospital for seizures that wouldn't stop, seizing every 5 seconds for a week and she quit eating and drinking. It was very hard to feed her because you would get a bite in and she would have a seizure and choke.  He recommended maybe "thickening" her foods-one way would be with a ripe banana. This is a great recommendation for kids who choke a lot. We did this in the hospital during that time and it helped so much. They performed a test on her that kind of x-rayed her swallowing and just a little bit of liquid would go down the wrong side of her throat every time she swallowed making her choke. She seemed to have more control with thicker liquids. We used a thickening agent at that time (which was recalled because of serious side effects, seriously) but there are other ones out there-I would check the ingredients if it is not a "natural" form. It is so hard to know what is going on with her because there is no indication of not feeling well or is it merely attitude:) I'll keep trying-may try the banana thing...and keep you updated.