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.

 

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!

http://weightdownweightloss.wordpress.com/2013/06/26/diy-temporary-tattoo-for-kid-safety/

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!

Fireworks!

 ~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.~

Summertime

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.

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.

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
http://angelshands.org/

Motorcycle ride begins at 9:00 am from Timpanogos Harley Davidson.

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":)

 

 

Updates:
~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...

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.
http://www.rarechromo.org/html/home.asp

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.
http://www.rarechromo.org/forum/DisordersLeaflets.asp

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...

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:)