2q23.1 Awareness Day

Wanted to share about the 1st Annual Awareness Day for 2q23.1

Started Feb 23, 2013 but continues on...

 

 

This year on February 23, 2013 will be the first annual 2q23.1 Awareness Day. With goals to educate the global community and promote AWARENESS of 2q23.1 Microdeletion/duplication Syndrome, we hope to find other families around the world with a 2q23.1 Microdeletion/duplication Syndrome diagnosis and offer SUPPORT. We wish to inspire medical professionals to RESEARCH 2q23.1 deletion/duplication syndrome, so that there can be a better understanding of symptoms and expected outcomes.

2q23.1 deletion/duplication disorders are extremely rare, with only around 70 documented cases in the scientific literature. These disorders typically fall into Autism Spectrum Disorder, which causes a lot of confusion. The chromosome mutations and symptoms have great variation in each child. Most commonly, children with this disorder experience seizures, intellectual disability, microcephaly (small head size), speech impairment, distinct facial features, and developmental delay. Even though these children seem widely spread throughout the world, and so few in number, more diagnoses are continued to be made at a growing rate. We need to spread awareness to the medical professionals to help assist in accurate diagnosis of children with these symptoms. We need to spread awareness to geneticists so that research on 2q23.1 deletion/duplications can be funded. We need to spread awareness to families to help give support and a sense of community. And we need to spread awareness to society as a whole, to help make this disorder less misunderstood.

Check back soon for more details on 2q23.1 Awareness Day!

 

Link to website

2q23.1 Microdeletion Syndrome

I received Asia's lab test today and what I previously heard as a 2q37 is actually a 2q23.1 microdeletion syndrome. I am finding that this is even more rare then the 2q37 deletion. I have found a few articles, the lab report listed some references and I have found a few other families dealing with the same diagnoses. So, I am going to research and hopefully get some key points in another post.
Meanwhile...I have lost my pleasant Asia to a hellacious (is that a word?) beast:) If only I could figure out her moods-whoa! She has been so grumpy at home and even school-not eating at school and non-stop screamer. She is currently back to the hair pulling, kicking, and hitting that we ohhh so love, please give us patience:)
Haven't noticed any true seizure activity-she has gotten a sleepy zoned out look a few times the last couple days but I cant say it was seizing-still crossing fingers!

Mischeif Maker

So, I finally received my awaited phone call last night:) Asia's Neurologist is going to send me Lab results, try to get her into a geneticist sooner then next November, fax all info to her pediatrician-so he can refer me to any other specialist's she might need and he will call me with any further findings related to seizures and Chromosome2. As of right now seizures are Asia's main problem.

Asia is still doing well with no seizures and I love it because her personality starts to come back-she is such a TEASE. Asia loves mischief! Anything that is even close to being defiant is so funny to her. She really teases her school bus drivers and aides when she is feeling better-every time she gets off the bus. She thinks her brothers are funny, especially when they are causing trouble and she is so much more pleasant-thankfully! I love seeing this side of her even though someone is bound to get in trouble. She def has her moments during the day-today it was kicking...I cant help but swear (in my mind) when she kicks me in the gut. Her legs are getting longer and if she is not in a happy mood when I am changing her clothes or diaper I get kicked-chest, gut, head what ever is in the way gets it and man it is so hard to keep my composure. She even tried to kick the baby...that really gets me upset. He already mimics her screaming really well, I hope he doesn't learn to mimic her hitting and kicking...or, what I really wish would happen is that she would get over it. Something to hope for:)

Telling the fam...

Well, until today I have kept my "journal"-blog and new info on Asia kinda private. I thought it was time for her therapists, teachers, friends and family to know the info on (2q37 Chromosome deletion)-maybe it would change some of her therapy? and...maybe it would help people deal with her developmental delays and behavioral issues. I am going to sum up some info on this diagnoses in my next post.

Other than that:
Seizure activity-haven't noticed any for awhile now-yay!! keep crossing your fingers...

Medication

Asia is currently taking anti-seizure medication Depakote and Topamax. A while back we noticed her seizure activity was increasing. I was even getting notes sent home from school saying she fell, bonked her head etc. because of increased seizures. The activity seems to increase every so often and seems to worsen when she is sick. She has also been acting out a lot, even trying to "get" the kids at school when she is irritated-but the seizures and the outbursts have been going on far too long.

The different types of seizures that Asia has/had have all caused her dangerous situations. She has been to the hospital more then once on account of her banging her face and needing stitches. She would bite through her own lips, cut her gums and cheeks. Sometimes she would just fall face forward to the ground, often just straight down to her bottom. It was almost like her body would just give out and hit what ever was beneath her. Very hard situation-you never know when its coming. There was talk about a "helmet". Which really wasn't a bad idea but her personality would make it quite difficult. She also "zones" out quite a bit-looks like she may not be paying attention but she is seizing. Starring off into space. The seizures really need to be under control. She can not progress in therapies and school if they aren't managed.

Her doses of Topamax were increased a couple of months ago and that didn't seem to be working. She was still having many seizures during the day. Her Depakote levels were then increased about a month ago and this last week I have seen a change! I don't want to get my hopes up but, I have not noticed much seizure activity and her personality has been showing through again:) Her daily log report from school has been awesome...I am seeing comments like "she actually ate today", "she was so happy all day", "she had a fun day", "she ate all of her lunch today"-not many understand how much these simple comments mean. Yesterday she said "bye-bye Allie" to her older sister as she left for school which was a little shocking-I almost teared up a little, sounds so stupid but she doesn't do this kind of thing very often. She also has been so playful this week. The adjustment to medication is probably not fun. Since she cant talk I don't know what is irritating to her. I wont hold my breath but, I can hope right? Hope that maybe her seizure activity has lessened and maybe we are headed in the right direction to get them stopped.

Dentist-yikes

Asia went to the dentist today and these appointments have not been very fun in the past. I get a little nervous because she has bitten the Dr. and his assistants, tore up her paper covers, thrown stuff, screamed you know the drill...She doesn't even like her teeth to be brushed at home let alone examined by a dentist with instruments. I think part of the sensory problem she has must somehow affect her mouth. She grinds her teeth all of the time (they are getting so worn down), chews on her tongue, wants to chew on her clothing or the chewy tubes she gets at school, she is very very sensitive. I try to keep up on these appointments because the seizure medication may damage her teeth and right now I am so worried she is going to start losing her teeth!! How will I know?? She bites my fingers if I try to feel them and she wont know if she has a loose tooth. I guess if she swallows a tooth it wont hurt? Today though, wasn't so bad. Maybe because it was after a long day at school and she was tired? Curious George overhead may have helped as well? She unfortunately has a cavity that we are going to have to fill because it is a molar she will still have for awhile. Her dentist is great and is going to try to do it first and if she wont hold still enough we will have to go another pediatric dentist who can somewhat sedate her....I guess we will see in a couple of weeks.

I thought we were going to start of grumpy...

But she did a really good job today...

Therapy Horse Riding

There really isn't a lot of extracurricular activities out there for kids with special needs. Here is one thing that I have found and I have always wanted to get Asia into-is a horse riding therapy program. Her older sister rides a horse and every time she sees her, a picture or a horse she says "on". She gets in the saddle, relaxes and just rides. She of course is being pulled around and someone is by her side but, she calms right down. After awhile she may say "done" but she has loved it. This may be very therapeutic. It could help with strengthening her muscles, motor skills, communication, concentration and other areas of need. As noted below by Hoofbeats, Asia never crawled and her disorder can show traits of someone with Autism-areas that riding has been shown to help with. Riding therapy would be great. This spring I will look into it again. I have found a couple of programs within my area (Utah county) but it would still be a drive. Her sisters horse is now in Northern Utah county so maybe I will check these ones out and possibly be scheduled at the same time?? Check out both of these sites-they list some great reasons for riding therapy.

Courage Reins

Hoof Beats

There really is something to this type of therapy-The following was taken off of the Hoof Beats site.

Hoofbeats to Healing is dedicated to providing therapeutic horse back riding in Utah. Using an effective natural approach to therapeutic horse back riding via Missouri Fox Trotter horses. Based on the theory of Cross hemispheric integration. Which is if a child didn't crawl correctly their brain may not be mapped correctly. Effective with disabilities including, but not limited to; RAD ( Reactive Attachment Disorder ) Visual Impairment - Learning Disabilities - Cerebral Palsy - Spina Bifida - Developmental Disabilities - Autism Head Trauma - ADD/ADHD - Stroke/Heart Attack Patients - Spinal Cord Injuries - Emotional Disabilities - Multiple Sclerosis Hearing Impairment -and more.

Food Fights

Every meal with Asia right now is a all out food fight. We never EVER give her her own plate of food or a drink right now. It will be a matter of seconds before it's on the floor or in your face. Even giving her a bite you have to be tricky and patient. Asia is fast, she'll hit that utensil out of your hands so fast you don't even know what happened. If she hates something she is eating she will take it out of her mouth and throw it at you. Always be on guard:) I sure hope this ends someday-she use to eat so well. Anything you gave her she would eat. We could even try to help her use utensils (which she can not currently do) and it would be all right. Now, expect drinks in your lap and food not only in your face but, the faces of all those dining. Sounds funny-it is usually not. Dad gets pretty heated over it and I completely understand. You spend a couple hours making dinner for the fam and it gets tossed on the floor. Yesterday was so funny-she would take one bite and throw the other half on the floor. Half of a french fry-on the floor, half of a piece of cheese on the floor, every single time-I found that kind of amusing even though she was doing it out of anger. Tonight at dinner after the usual tantrum she ate? She loves avocados right now and she would take a bite-threaten to take it out of her mouth and then just eat it. Nice change. I think she threw down several other options but as long as I gave her the avocado-she was good. She inadvertently coughed/gagged on her second to last bite of applesauce (mixed with meds) and sprayed my face but, again it was unintentional. Using a straw for drinks seems to help. After dinner even the tub and getting ready for bed was pleasant. She talked nice to the baby and even let him play on her bed (little unusual). Why the change?????? I wish I knew.   A big helping of avocado's-little salt, little lime? Get out the straws? I'll try it again and see.

Snacks for the ultra picky...

Anyone that knows Asia, knows that she loves to eat bags of chips & slices of cheese-it's like a addiction. The first thing she does when she comes into the house (or Grandma's house) is look for the chips and cheese. She will throw the biggest tantrums if she cant find them. Until this past year she has never really had that much of a sweet tooth but, this year she has started to. She loves marshmallows, I think its because its a finger food that is "easy"-no mess and she can just shovel them into her mouth. Asia is not good with utensils yet-everything is with her hands. I've tried some of the weighted utensils but they were to big. Texture of food seems to be a issue and sometimes it's her mood that will effect what she will eat. I try to keep several different cheeses in the fridge to solve her craving. We love the little snack sized "tillamook's-or tillamoos"-I cant find them just anywhere yet, sometimes Costco has big bags. Chips can be a headache. If we have them she wants to hold the entire bag-no matter what size, its "mine" she says. If someone takes one they get hit or screamed at-yes, she loves her chips. She always wants Doritos, Cheetos, potato chips so I have decided to try something new. I want to slowly introduce products that are a little "healthier" until she gets a new taste for products and we can be better with what we are buying at the store. I will admit we love "treats"-sweets, chips etc. Anyone that comes to our house knows about the treat bowl on top of our fridge. It's always full of candy-we seem to accumulate it through the holidays and with occasional purchases:) Asia (and my other children) have discovered it and always want it "down". So I have replaced it...

If Asia wants a treat or a chip I am going to let her choose from this bowl. There are so many choices out there now that are better for you. I found a lot of "rice" products-Quaker brand has some great options. Little bags of "chips" that are sweet or savory but, they are rice cakes-texture just like chips. I put tons of items in little snack sized baggies-whole wheat gold fish, dried yogurt bites, pretzels, kept the marshmallows (just small amounts), teddy grahams, popcorn chips and potato crackers and then I am doing mixes in one bag for example-chex cereal, pretzels, marshmallows maybe some chocolate chips here and there. Buddy fruits is a great product line-one yummy treat is the Lemon Tartlet-a yummy treat if she'll eat it:) The baby food aisle has lots of snacks and Wal-mart had tons of great items last time I was there. Let's see if she'll go for this...