Physical Therapy Evaluation

Just need to vent today:) Per Dr's recommendation and my own personal thoughts as well- I had a Physical Therapy evaluation today outside of the school program she is in. She just needs more therapy-life skills therapy-and so I am going to pull her out of school a couple hours a week for more physical and speech therapy. She is so exhausted by the time she gets home from school I can't bring myself to drag her off for more therapy after that. The appointment went great, I think the PT and I were on the same page as far as what she needs and we will see how it goes. She has been there before and hated it. Not that it was the physical pain, she just didn't want to do what they wanted her to. Asia is a little older now and maybe she will comply. We have some homework. To start- Asia's endurance is terrible so we need to get her started by walking more, practicing balance on curbs. She also needs to stretch her legs and heels everyday.

What I want to vent about today is her behavior before we started. Sitting in a room full of people she starts screaming her head off, throws a magazine at a little baby (completely freaked the mom) it luckily missed. I grabbed her as she was bolting to attack this poor lady. It would have been a little better but I was trying to fill out their 5 page questionnaire, keep track of my other two boys (who should not have been there and were waiting for their ride) and holding her down next to me as she hits and pulls hair. I noticed she needs a diaper change because it didn't look like it had happened at school. The secretary tells me there is a changing station in the bathroom, I  am sure I got a unintentional look of devastation on my face because Asia is way to big for those changing stations now-and then she says I could use one of the therapy rooms, which was so great but, then I felt slightly embarrassed because I think she could maybe tell I was breaking down. Asia then starts to climb over the back of the chair and a table to get to the toys and my 5 yr old tells me he has to go potty which is down the hall. At this point I am about to burst into tears as I grab my bag, the baby, Asia and send the 5yr old down the hall to the potty. I open the door to go out and this cute little girl says "why is she fussy"- as Asia throws herself to the ground in a fit. That just topped it all off and I can barely get the words out "I really don't know" and hurry down the hall. I am just hoping at this point to regain composure when I meet her PT! I knew when he started going over information I would not be able to hold it in. Luckily, they were super cool and let my boys run wild while I tried to explain Asia-not a easy or short topic. Anything that involves taking Asia out is truly so difficult. It did not help that my boys were there and next time they wont be. I can handle her a little better when she is all by herself but had to get this one off my chest:) Now I'm good:) Tomorrow is a new day...

~By the time we left she was being carried by the PT's assistant and falling asleep. They were so great!

Tuesday Morning

It has been a really busy week! In fact, this time of year is busy and its going to be busy for a couple more weeks. I have to make the time to sneak in a post here and there. First thing-this morning....I wish I could understand why but, she was so good!! She wanted to throw one tantrum about her "cheese" but held back. Her thing right now is to bring a un-opened "Tillamoo's" (little square packaged cheese) on the bus. I gave it to her and she went to throw it on the ground because of "some reason" but held back. No other outbursts happened this morning. I kept on guard, I kept waiting for the slap or the scream but nope-I hope she feels alright:) It was awesome.

Yesterday Asia had a renal ultrasound-really easy, she was so good. In fact, she almost fell asleep with the dark room-low lights and sound of the machine humming. I think it made me sleepy as well. Worst part is that it tickled her and she didn't like that much but, results should be in soon. I am not expecting anything to be wrong but Dr's thought it would be a good idea-she's never had it done. With her Chromosome 2 disorder and she has such problems with constipation and potty training it wasn't a bad idea to check it out. She actually said "potty" to me yesterday!! She didn't want to go in the bathroom but, maybe she is starting to recognize the sensation-I think I may wait a couple months until school is out and then try the potty training again. I've gotten some good ideas on motivation and things to keep her busy while we are trying.

This weekend was Asia's brothers birthday. He turned 5 and we took the extended family to a trampoline park. Everyone had a good time except Asia. Oooooh she hated it! I really think it was because the facility was so loud. She has some sensory issues and I have noted before that she is extremely naughty in a noisy environment-it was no different this weekend. She wouldn't stop screaming. I may want to consider keeping her home even if it is a family event like that. She is so miserable and would probably prefer to stay at home.

Something clicked this morning. There is this cute story going around on facebook about the little Autistic girl who didn't want to eat her "broken hamburger". The story is really giving props to the restaurant but, it really hit home with me when handling special needs kids. This morning the Mom was on the radio and I heard her story and I could relate the story to Asia.  This little girl (who can talk) didn't want to eat her hamburger because it was "broken" meaning it was cut in half. Asia's disorder (2q23.1) is in the Autistic spectrum-she often displays mannerisms that relate to this disorder. Sometimes we can not figure out what is wrong with the food we give her, the toy, the shoe, the game on her iPad and maybe it is the way it is presented? Maybe in her mind it is not the way it "should be" and throws a tantrum. Her chips need to be in a bag, she wants to watch me open her cheese etc. But, because she can not talk we don't know this. I am going to have to keep track of when something is "acceptable" to Asia and try it out.

Here is a link to that cute story, I am sure if you have special needs kids you would understand. Everything from "do I take her out today?" to "uh-oh what is she going to do?". It's on the Chili's facebook page and I do give props to the Chili's staff. People are so often cruel about these types of things and they worked it perfectly and any parent would be so appreciative in this situation.
https://www.facebook.com/photo.php?fbid=4767574347510&set=o.106027143213&type=1&theater

Purple Day!

 March 26, 2013 is "Purple Day". A global event for epilepsy awareness.

Asia has suffered from seizures since she was two years old and there are many like her. People are affected all over the world with this for many different reasons. There is little known about the causes of seizures and how to treat them. Many of the treatments are trial and error and this usually takes a very long time. With Asia, it has been hard to get her seizures under control. We have tried a combination of medications and different dosages, she has had a good couple of months-it's been 5years:) Even once under control- Dr's still don't know the cause. More funding and research is needed to help people suffering from seizures.

 Asia has lost so much from her seizures-I was actually studying her face yesterday and you can see the scars on her nose, chin and above her eyebrow from where she has hit her face when falling from a seizure attack-not only are her "normal" daily activities interrupted, she is in physical danger and she loses memories as well. Here are a few stats from the epilepsy foundation. http://www.epilepsyfoundation.org/aboutepilepsy/whatisepilepsy/statistics.cfm

Incidence -- Seizures:

• 300,000 people have a first convulsion each year.
• 120,000 of them are under the age of 18.
• Between 75,000 and 100,000 of them are children under the age of 5 who have experienced a febrile (fever-caused) seizure.

Incidence -- Epilepsy:

• 200,000 new cases of epilepsy are diagnosed each year.
• Incidence is highest under the age of 2 and over 65.
• 45,000 children under the age of 15 develop epilepsy each year.
• Males are slightly more likely to develop epilepsy than females.
• Incidence is greater in African American and socially disadvantaged populations.
• Trends show decreased incidence in children; increased incidence in the elderly.
• In 70 percent of new cases, no cause is apparent.
• 50 percent of people with new cases of epilepsy will have generalized onset seizures.
• Generalized seizures are more common in children under the age of 10; afterwards more than half of all new cases of epilepsy will have partial seizures.

Prevalence -- Epilepsy:

• Prevalence of active epilepsy (history of the disorder plus a seizure or use of anti epileptic medicine within the past 5 years) is estimated as nearly 3 million in the United States.
• Prevalence tends to increase with age.
• 326,000 children through age 15 have epilepsy.
• More than 300,000 persons over the age of 65 have epilepsy.
• Higher among racial minorities than among Caucasians.
• Cumulative incidence (risk of developing epilepsy):
• By 20 years of age, one percent of the population can be expected to have developed epilepsy.
• By 75 years of age, three percent of the population can be expected to have been diagnosed with epilepsy, and ten percent will have experienced some type of seizure.

Epilepsy risk in special populations:

The basic, underlying risk of developing epilepsy is about one percent. Individuals in certain populations are at higher risk. For example, it is estimated that epilepsy can be expected to develop in:

• 25.8 percent of children with mental retardation
• 13 percent of children with cerebral palsy
• 50 percent of children with both disabilities
• 10 percent of Alzheimer patients
• 22 percent of stroke patients
• 8.7 percent of children of mothers with epilepsy
• 2.4 percent of children of fathers with epilepsy
• 33 percent of people who have had a single, unprovoked seizure

 

First Aid for Seizures

First aid for seizures involves responding in ways that can keep the person safe until the seizure stops by itself. Here are a few things you can do to help someone who is having a generalized tonic-clonic (grand mal) seizure:

• Keep calm and reassure other people who may be nearby.
• Prevent injury by clearing the area around the person of anything hard or sharp.
• Ease the person to the floor and put something soft and flat, like a folded jacket, under his head.
• Remove eyeglasses and loosen ties or anything around the neck that may make breathing difficult.
• Time the seizure with your watch. If the seizure continues for longer than five minutes without signs of slowing down or if a person has trouble breathing afterwards, appears to be injured, in pain, or recovery is unusual in some way, call 911.
• Do not hold the person down or try to stop his movements.
• Contrary to popular belief, it is not true that a person having a seizure can swallow his tongue. Do not put anything in the person’s mouth. Efforts to hold the tongue down can injure the teeth or jaw.
• Turn the person gently onto one side. This will help keep the airway clear.
• Don't attempt artificial respiration except in the unlikely event that a person does not start breathing again after the seizure has stopped.
• Stay with the person until the seizure ends naturally and he is fully awake.
• Do not offer the person water or food until fully alert
• Be friendly and reassuring as consciousness returns.
• Offer to call a taxi, friend or relative to help the person get home if he seems confused or unable to get home without help.

Here are a few things you can do to help someone who is having a seizure that appears as blank staring, loss of awareness, and/or involuntary blinking, chewing, or other facial movements.

• Stay calm and speak reassuringly.
• Guide him away from dangers.
• Block access to hazards, but don’t restrain the person.
• If he is agitated, stay a distance away, but close enough to protect him until full awareness has returned.

Consider a seizure an emergency and call 911 if any of the following occurs:

• The seizure lasts longer than five minutes without signs of slowing down or if a person has trouble breathing afterwards, appears to be in pain or recovery is unusual in some way.
• The person has another seizure soon after the first one.
• The person cannot be awakened after the seizure activity has stopped.
• The person became injured during the seizure.
• The person becomes aggressive.
• The seizure occurs in water.
• The person has a health condition like diabetes or heart disease or is pregnant.

 

http://www.cdc.gov/epilepsy/basics/first_aid.htm

Cousins Don't Count Chromosomes

I have been known to take a photo here and there:)

I had to share these cutie pies!! One of my BFF's magical little girl in pink and her cousin in blue. They are so adorable and I love what mom had in mind when they thought of taking this photo. "Cousins Don't Count Chromosomes"-so so cute! you may see it popping up here and there:) 

 

Boardmaker

I saw a post recently on the program "Boardmakers" and let me tell you I have been making "boards" for two days now! It's been a little addicting. Because Asia does not really "speak", they have been trying to get her to use the PECS program at school. Which is a picture exchange communication system. http://www.pecsusa.com/pecs.php  It hasn't really clicked yet and it is going on 4+ years, but I still have hope. They use to use paper pictures then it all went on the iPad. It's been a little frustration because when she was in early intervention pre-school they always talked about getting us the pictures they were using. Then the iPad was suppose to be for her use and even now the same situation for 1st grade. Still waiting for which images to practice with. We all thought we would start out simple until she grasped the concept but, it has been really difficult to know what to do at home. I always feel we are on "hold" waiting for her therapists to give me the information I need to continue.

So for now, I have made my own "picture boards" and she LOVES them. It's only been a couple days and she is not using them the way I want her to but, she wants to carry them with her where ever she goes. She loves books and magazines and this may fall into that category with her. I am going to make some small 2x2's and put them on a key ring that can be attached to her backpack. I am also going to send some to grandma's house:) Ideally, I want her to start pointing to the picture that has what she wants on it, wants to do, or how she feels. For that reason I have temporarily placed pics of things like McDonald's, cookies etc. just to get her interest. I guess we will see how it goes. I am also printing out her information on medication and routines then laminating everything. I am going out of town for a couple days soon and thought this would be great for the babysitter.

The possibilities are endless with the Boardmakers program. I am only using it right now for "Boards" but you can create talking books, behavior supports, schedules, reward chats, practice lessons, graphs and more. It's great for parents, therapists and teachers. Boardmaker also has some great iPad apps-we are trying some sign language ones right now. You can download a 30day trial version-which I am using and someday may try to purchase if it goes well with Asia...I think I am so excited about it because I am ready for her to be able to communicate with us better and I am willing to try anything. I picture her going to the fridge and pointing to the picture that says something like "thirsty" and I want to cry:)  HOPE.
Here is the link for Boardmaker and some of my samples.
http://www.mayer-johnson.com/boardmaker-software-family

 

 

 



Rare Gestures

I have been delaying this post this week because I didn't want it to be to negative. It's been a hard week-really down. Not exactly sure why, I have kind of felt that I am at a standstill. I haven't been blogging about Asia's situation for very long but, it has been the same for years. There has not been much progression with Asia and it can be so physically and mentally exhausting .With the knowledge now- that we really don't know how much she will change as she grows- can be kind of discouraging. I am sure I have phases, ups and downs with my own emotions. Some days I am just in the "daily routine", other days I question if things will get "any better" and occasionally I will have positive motivation from Asia to keep me hoping and enduring. Nonetheless, I am going out tonight-with my amazing husband and no kids-I need a break:)

The beginning of the week I filled out a questionnaire for the Unique organization:
http://www.rarechromo.org/html/home.asp   -the questionnaire is to gather information for families and specialists to be used worldwide about the 2q23.1 microdeletion syndrome (because no one has done it yet). Someone I know who's child is diagnosed with 2q23.1 like Asia, mentioned that it was kind of depressing to fill that out and I was thinking maybe that has something to do with my week. There is so many things I don't know about her and all kinds of things I don't know if she will ever be "able" to do. I kind of wonder what else is in store for her/us. There is not a lot of help out there right now for these kids and they are hard to figure out. Maybe I should focus on a couple of accomplishments for her and look forward to them.

I had enough yesterday and probably wasn't the most patient or pleasant. It's not her fault but Asia can really be frustrating sometimes. I am tired this week of the tantrums and the "minor" physical abuse she can display. I guess I have caught myself wondering "how long will this last?". But now that I have it "written" down-I can move on. There is hope for next week. I do have to mention one thing. A couple of nights ago Asia was exceptionally grumpy-but, we were saying prayers before bed and she reached her little hands around my neck and kissed me on the mouth like 10 times:) I have to tell you that I was a little confused about what she was doing- especially when she just beat me up 5 minutes earlier-one of those rare gestures from her that we all look forward to. Maybe, just maybe she was saying "thanks for all you do"? At least that is how I am going to take it- so I can hope and endure:)

Other note:
~Seizure activity is still way down. I have only noticed a couple since her meds were increased and that is so awesome!
~She is really grumpy this week? Even problems on her daily school log saying she had trouble doing certain things during the day? and I say this because Asia does not "act out" at school. At least she has been really good in the past. Preschool years and Kindergarten her teachers were really surprised when Asia would throw a little tantrum in front of us. This year she may be a little grumpier at school and that might be because of stronger frustrations. She holds it all inside until she gets home:)
~Weather has been so warm this week-Loving it! Asia does not do well in the heat. Buses do not have A/C. (she has to wear layers to school that can be taken off and water bottle in back pack)

Spread the Word to end the Word

I am a little late on this...The official date was March 6, 2013 but, I am still seeing it pop up everywhere. I saw it all over facebook and "shared" it there but I wanted to post here as well.  I didn't realize you can go to the website and actually "pledge" to stop saying the "R" word. I just did it. The site is full of great information and I recommend checking it out (link below). I have now had a couple people ask me if Asia was "Retarded" or "handi-capped" and my response to that has been-"yes, I guess you could say that" because I really don't want to get "in to it" and she does fit the original definition. BUT, what has happened is there is a "negative" connotation with the "R" word and that is what the social population thinks it means and that is how they use the word. It can be very hurtful. I don't even approve the use of the word when someone is talking about something completely unrelated to a person. It just has such a damaging description.

(original def)
re·tard·ed

Definition of RETARDED

: slow or limited in intellectual or emotional development or academic progress

(see 4b-what it has become)
re·tard
/rɪˈtɑrd, for 1–3, 5; ˈritɑrd for 4/ Show Spelled [ri-tahrd, for 1–3, 5; ree-tahrd for 4] Show IPA

verb (used with object)

1. to make slow; delay the development or progress of (an action, process, etc.); hinder or impede.

verb (used without object)

2. to be delayed. noun

3. a slowing down, diminution, or hindrance, as in a machine.

4. Slang: Disparaging.

a. a mentally retarded person.

b. a person who is stupid, obtuse, or ineffective in some way: a hopeless social retard. 

5. Automotive, Machinery . an adjustment made in the setting of the distributor of an internal-combustion engine so that the spark for ignition in each cylinder is generated later in the cycle.

To a point-she is "handi-capped" we now use the term "special needs". What we don't realize is how much people with special needs understand what is being said about them. I don't know if it would hurt Asia's feelings if I told someone she was "retarded"?  She can not tell me. (I would never say that) I would also hope that the people asking me if she is, is truly asking if she has a developmental disorder. Often we don't know how they actually feel inside, these special people just can not express themselves. I believe they do know they are different and they do have a desire to be "normal" just like everyone else. I assume for most, they just want to be treated that way as well. The new "R" word is respect. The older Asia gets I think she will have to deal with ignorant people more and more-both peers and adults. It breaks my heart to think that it hurts her feelings when someone is talking negatively about her and when she gets older it will effect her even more. No one knows the daily struggles of the special needs person. The physical and mental pain they go through can be excruciating. The inability to communicate, express emotion and physical limitations are so frustrating.  Always show kindness and respect-Take the pledge!

http://www.r-word.org/Default.aspx

Asia 0-24mos.

At 0-24mos the things we knew about Asia was...

~Blocked tear ducts

~Blepharitis(she had this but we didnt know what it was called until last year)

~Hearing Loss

~Ear tubes

~Never crawled

~Tongue tied
~Sleep disturbances
~Constipation

At the age of 1, Asia seemed to be developing normally. She was a very large baby but she did start to lose some of that "chub" when she started getting active. Asia did not like "tummy time"  and never crawled like normal babies. She did scoot across the floor on her bottom-and she was fast! She also had a fun game in the bathtub-I would scoot her to the back of the bath tub and she would slide to the other side-she loved that. Asia sat and rolled at a average time for babies and started pulling herself to a standing position. She learned to walk along furniture just fine and walking alone came a little later then average babies but, not so long that we were concerned. She a was a teaser, rough and feisty :) I remember her breaking the standing mirror we had in our bedroom because she liked to bang it against the wall.  Something else that stands out was that she could dribble a soda can between her legs-making it bounce into the air really fast and her concentration was amazing:)

This is the mirror she broke...

Asia's tongue was tied so they clipped that after she was 1yr.We didn't even notice because it wasn't effecting her eating but lets just say there was no way she could ever lick a ice cream cone:) She was beginning to have sleep disturbances-she would not sleep alone and cried a lot at night. Asia had constipation problems and she was breastfed. I tried to avoid foods that may have been causing problems such as Dairy. She did start to say just a couple words-which seemed normal. I distinctly remember her repeating "hat" and tapping her head. She had words she doesn't say anymore-they seem to come and go. Just to document- we did keep up to date with her immunizations-she got sick and ear infections a lot so we did them to be safe (I now slow them down). Asia had blocked tear ducts and she has blepharitis. Her eyes watered a lot and at the time the blepharitis could have been bothering them as well or a cause? Everyday (even now) I have to wash Asia's eye's morning and night with baby shampoo to keep the eyelash follicles from getting crusted over and causing her eye infections. Massage may have helped her blocked ducts because she grew out of that. I swear it helps keeps colds away as well.

Blepharitis (pron.: /blɛfərˈaɪtɨs/ BLEF-ər-EYE-tis) is an eye condition characterized by chronic inflammation of the eyelid, the severity and time course of which can vary. Onset can be acute, resolving without treatment within 2–4 weeks (this can be greatly reduced with lid hygiene), but more generally is a long standing inflammation varying in severity. It may be classified as seborrhoeic, staphylococcal, mixed, posterior or meiobomitis, or parasitic.^[1]
Signs and symptoms that are associated with the chronic inflammation can be:

• Redness of the eyelids.
• Flaking of skin on the lids.
• Crusting at the lid margins, this is generally worse on waking.
• Cysts at the lid margin (hordeolum).
• Red eye.
• Debris in the tear film, seen under magnification (improved contrast with use of fluorescein drops).
• Gritty sensation of the eye or foreign-body sensation.
• Reduced vision.
• Eye itching

Asia at this time was also not passing her hearing tests. We continued these tests because she failed the new born hearing tests on her left ear. The tests were so hard to perform with headphones, she was to wiggly and to young for the sound booths. This got so repetitive and exhausting. It's hard hauling a infant in and out of the Dr's office for these tests. She kept getting ear infections and had received her first set of ear tubes. We knew then and know now that Asia can hear. When it was time for Kindergarten the school audiologist passed her hearing on both ears (this also denied her entrance to the school for the deaf). After that we had a ABR (hearing test) while she was under for another surgery and she tested positive for hearing loss, no response from her right ear. Could it be possible that we were trying to check the wrong ear all those years or did something change and continues to change?  Until a couple of weeks ago I have not heard of the condition "Glue Ear". Her Dr.'s have never mentioned it and so she hasn't been tested but, we may look into it. It's probably a good idea to have a current test done for her hearing. Here is a link for a description of Glue Ear.
http://www.medicalnewstoday.com/articles/167409.php

"It" happens

I received a few notes from people that have currently viewed this blog-all extremely nice and supportive and I greatly appreciate your comments! I want everyone to know that I have 3 additional children and a amazing husband and we do have good times:) I know it seems like I have these stressful days with out much more but, this blog is only about and for Asia. She is a huge part of my day but, not the only part:) I don't want people to feel bad for me I really just want to try and figure her out and what helps her the most. I want people to understand her and her situation a little better (and possibly others). This is also a great "venting" opportunity that really has been working for me. When I put something down in writing it's like I am taking notes to solve a problem and then I can forget it because I know I have it to refer back to. Love the support, thank you!!

On that note....I have a few things
~Never ignore the child who has sleep disturbances...you should have seen what I went in to this morning. A scene I haven't witnessed for awhile and it's almost embarrassing to share but it happens. I mean "it" all over her room. Asia is not potty trained. She almost has a phobia of the toilet and has never actually gone. She knows the routine but it's not clicking-I don't even know if she understands the sensation of needing to go or senses if she has soiled herself. This morning there was a poopy diaper in her dresser drawer and a huge mess. Didn't I just wash her bedding last night? Yes, I did.
~Food is such a issue right now. I've got breakfast down: Pedia-sure drinks with a straw, alternating 3 flavors with a "Tillamook" vanilla yougurt for meds. I'm going to stick with it until it stops working. She eats lunch at school and then dinner...oh man if I could figure this one out my life would be changed. Texture is a huge issue right now. Even her favorites are bothering her. Tonight after several tries I had to get out a back up (which is butternut squash). She is in a great mood right now-FOOD, it's such a mystery.

Now I Can's Run to Walk Event

Love to support my local groups and this is a great event. "Now I Can" is hosting it's 5th annual Run to Walk Event. I want to see if I can get a family group together to do this and run Asia-I'm telling you she would love it! Registration is now up and you can click on the link below to register. There are two routes a 5K and 1mile-just sign up:)

http://www.nowican.org/runtowalk/

Sing to her

Feeling guilty about something today...this morning I went to awake Asia for school and there was the most intense "disgusting" smell in the hallway before I got to her room. I was fearful for what I would find:) She has a glass door so I can see her in her bed and she was asleep all tucked in nicely so I figured she had soiled herself and was a mess but what i didn't expect was that she threw up sometime during the night and was sleeping in it-I felt SO bad! It was hidden all under her covers. I didn't hear her make a sound last night and she didn't come banging on her door. She didn't appear sick yesterday or all day today? I did keep her home from school just in case but, many times this school year she has thrown up once during the day and then just fine after that-I'm not sure what is going on but yes, I did feel bad I didn't know. What a miserable thing for someone to be stuck in and yet again, she never seems to notice anything wrong in those types of situations. Never shows a desire that she needs to be changed or cleaned up. I hope that changes someday.

Other notes:
~She loves to be sung to and thinks it's hilarious when you replace words in the song with her name"Asia":) Got her out of a bad mood a couple of times today.
~She is liking food that is soft lately like mashed potatoes, squash, avocados etc. Spits everything else out.
~Pulled out a huge chunk of little bros hair (poor guy) and screamed quite a bit.
~I must have done something right today because before bed she put her little hands around my neck and gave me a kiss goodnight:):) Love that!

Genetics Appointment 2q23.1 Lab Results

I am going to post whiles its fresh... I guess I should mention first, that it has taken us 5years to get to this point. It was 5 years ago Asia began having grand mal seizures (she was 2yrs) and it all escalated from there. Asia has been through a lot on this journey and I have a lot built up inside. I have a lot of history to still cover on this blog but I am somewhat relieved to finally be sharing "some kind" of diagnoses with you.

Asia had her first appointment with a geneticist today at Primary Children's Medical Center in Salt Lake City UT and I thought we had a great appointment. We talked for a good 2 hours. Asia is the first one he has ever seen with this deletion. The test they performed is called a "Cytogenomic SNP Microarray" and they have only been performing it for about 5yrs and it keeps getting better & better with finding information. Because this is so rare or "undiagnosed" he does not believe it came from Mom, Dad or family history. As far as he knows nothing caused it-no environmental issues etc.

It sounds like we are in the beginning of learning about a whole new bunch of disorders or finally being able to see what is causing them with this new testing. Research will be slow because until there is thousands of people who need care, research/medicine companies don't put a lot of money into the research.  Her Doctor gave props to the parents of children with rare diseases. Parents can find out what works what doesn't sometimes long before research is done. We have recently become part of a couple of 2q23.1 groups and we are gathering information for brochures (they need more volunteers with this deletion!) They will be used worldwide. Hopefully, I can do what I can to possible help Asia and others in the future. Medical science changes all the time and maybe one of these days they will learn how to add some of her missing information back in:) Should be interesting. In these groups all the kids involved have the almost the same symptoms as Asia. It's very interesting. We will just take it day by day right now:) and see what we can figure out.

I really want to be able to help her and help others that may be looking for answers. There are so many kids that have no diagnoses for their problems. It took us 5 years. Email me if you have any questions and I will do what I can to help.

Sharing a couple facts from her Lab results:

Cytogenomic SNP Microarray

The analysis showed a deletion involving chromosome 2 (2.8 Mb deleted) from 2q22.3 to 2q23.1
includes PABPC1P2, ACVR2A, ORC4, MBD5, EPC2 genes.

Haploinsufficiency of the MBD5 gene appears to be responsible for most of the features seen in the 2q23.1 microdeletion syndrome, where patients may present with a variable phenotype that may include: intellectual disability, developmental delay, motor delay, language impairment, infantile hypotonia, seizures, autistic features and craniofacial manifestations.

Asia is very special. There are things about her that we may not know until another life:) She is being protected and watched over everyday. I will learn a lot from her:)

Re-visit to Dentist

Today Asia had to revisit the dentist to get a cavity filled. You know how much I love taking Asia to the dentist-see my last post on the dentist. We decided to fill the cavity -even though it's a baby tooth-because it is a molar and she will still have it for quite awhile. It was after school and she's already moody because she is tired...In order to do this without any kind of sedation we had to be tricky. They tried to prop her mouth open with the rubber/scissor thing:) but she somehow managed to keep spitting it out. I am always so worried she is going to bite them! I held her arms while the tech held her tongue back with the mirror while she was holding two other instruments and the dentist went as fast as he could:) We got it done-relief! It was not easy. She threw her "penguin prize"at the dentist after and pretty much ripped my shirt off-luckily no one was standing in the hall but if they have camera's they def got a sneak peek:) Another note to self...don't wear a shirt that has a stretchy neck when taking Asia anywhere.
Asia must have been relieved to be done because she willing let lil bro sit next to her in the dentist chair:)

Not a happy face

Side notes:
~Do not feed her Mac-n-Cheese right now she hates it but loves avocados.
~Cheese has taken place of her book in the morning as item she most wants on the bus-food is not allowed on the bus but....oh well.
~She had a seizure before bed a couple nights ago:( bummer, I need to keep an eye out for more.
~She also ripped out my earring yes, from my ear. It was a miracle it didnt tear through-be on guard at all times:)

What is 2q23.1 Microdeletion Syndrome?

~Here is a quick little summary of 2q23.1~

I will do a post that is a little more in depth about Asia and her symptoms-this is a great "quick' summary. (Thank you to the one who created it.)

 

Fairy Tea

 One of my wishes for Asia is that she can be happy and have fun in life. I don't want this to sound like I am too jealous but, I see Asia's cousins, classmates and friends running around-playing, having so much fun as children and I feel so bad that Asia can't participate. I will admit that it really brings me to tears sometimes. It's heartbreaking to me. This last weekend I decided to try an outing with Asia. I knew it could be difficult but was hoping that if I got really dressed up and dressed her up like it was "Halloween" maybe she would have a good time...

She was super grumpy about getting dressed to go-threw some good tantrums.
Didn't want to wear her "tiara", or wings and wanted to be carried.

 

  She perked up when she realized one of her favorite cousin's was going with us and driving in our car-that was exciting for her:)

 By the time we got to our destination she had been chewing on her hair-purple hair that is (I chalked the ends with purple color bug) she had purple all over her face and shirt-oh fun! I should have known better, lol. When we got there she was doing pretty good-tons of excitement in the air, lots of little girls (and big girls) dressed up in fairy costumes running around-then she saw the elevator. All she wanted to do is ride in the elevator and started getting grumpy that we weren't getting in it.

Then we went to the ballroom and the program started-it is intended for kids 3yrs and older. Asia's developmentally around age 3yrs (kinda guessing at that). The beginning of the program is silent-dead silent-except for Asia. She finds her high pitched grumpy shrill because she is upset (probably about the elevators) and starts kicking trying to grab stuff.  I had to hold her hands down so she couldn't throw anything. The Fairy King spoke and beautiful ballerina's danced-again it was so quiet except for Asia. I was getting embarrassed but what can you do? It is what it is:) I couldn't let her go and sit with all the other little girls-she was too naughty and I know she would have ripped someones costume or she would have hit and pulled hair-I was beginning to wonder what I was thinking even coming to the event. A lady at a table next to us kept looking back but I didn't dare look at her. I didn't want to know if she was just curious or annoyed. It didn't matter. We were served some food and what do you know-a little "tillamook cheese" just for Asia:) So excited.

I was second guessing myself about taking Asia up to meet the Fairy King. I almost didn't go. I didn't know if she could sit next to him without being grumpy-she loved it! Finally-she cheered up a bit. She called him "anta"-thought he was Santa and he was so great!

After the program I took Asia back to the Fairy King. He talked to her a bit and asked her name. She kept saying "anta" and checking out his costume. She really enjoyed that-yay!

 Was it worth it? Yes, and I say that because the next morning she wanted to wear her tiara and fairy wings. To me that meant she enjoyed herself even if she didn't act that way most of the time. We got to spend time with cousins, eating and dressing up. We may just try again next year.

 

~Yesterday, I had a neighbor tell me that the Fairy King remembered Asia after it was over. He heard her in the audience and he was glad I brought her to meet him and that he got to spend a little extra time with her. I heard that he knows it is hard for mom's with special needs kids to bring them to events like this and hoped she had a good time. This remark really touched me, especially when I found out who the Fairy King was:)  It is very difficult to bring her to events-and I mean very. This remark has encouraged me to try more with her-to suffer through it because she may actually be enjoying herself-I just don't know it. She needs great childhood memories too~.