A-Z: Ables and Compliance

Jack started his fourth week of ABA therapy today, and the work has begun. The first two weeks were mainly spent getting him settled in and comfortable with his new surroundings and new "friends".  The therapist kept mentioning that they were working on ables and starting on compliance. Honestly, I really had no idea what she was talking about, but smiled and said "great". I thought compliance had something to do with billing and insurance, and getting all the paper work in "compliance".

Apparently, ables are exactly what you might guess, or not since it took me a minute. But ables are a long check list of tasks to see what Jack's abilities really are, studying him and seeing where he truly is in his development. Because let's be honest, the initial evaluation, where they spent 5 hours with him is not an accurate portrait of Jack's true abilities. And compliance has nothing to do with paper work, it's getting Jack to comply with they're requests; such as sitting at the table for 5 minutes, or simply putting a ball in a bucket. Which of course made me laugh out loud, literally, my first thought was "good luck!"  During Friday's meeting, they explained to me that Jack's behavior is what will be the biggest challenge, when it comes to getting him to comply. Really? That's so weird he's an angel at home and does everything I request of him! But seriously, Jack does what Jack wants to do when he wants to do it, so if you try and make him do something he's not willing to do, look out, literally, duck, bob and weave, cause it's all coming at you like a tornado, toys, hands, feet and most definitely a running start headbutt. The good news however is that those moments seem to be getting better, for example, getting him dressed and out the door in the mornings have become less stressful, he loves going to school. That in and of itself is a huge leap forward in progress.

What I do love about the program is they keep track of everything, what words he uses, how many requests he makes, and how long he has a tantrum for.  In the third week, when they really started pushing him, his tantrums or "non-compliance" lasted roughly 3 minutes, but by the end of the week he was averaging a minute and a half, which is awesome. This last month actually has been pretty amazing, Jack seems happier and the tantrums at home seem to be less of a meltdown mode and more normal toddler upsets. Seeing progress this quickly has been a delightful surprise. We still have a long road ahead of us, his lack of impulse control is still a force to be reckoned with, however we have just learned to keep the counters and tables clear, and have kept the time outs consistent.  Even the spitting out of water and juice wherever he stands has almost completely stopped. I feel like there might be a small light down at the end of that tunnel now, where before I felt like I was in the dark, not knowing what the future holds for our little man. Jack is so smart and such a quick learner, I can't wait for to see where we are even in the next couple of months, ABA therapy has truly been a blessing.

Hugs from a fellow Momma Warrior
Em 

Medication...The struggle is over!

Since the beginning of Jackson's little life, we have struggled giving him medication. He is so sensitive to taste, that even the slightest hint of it and he's spitting it out. As an infant and even now at 2 1/2, if I manage to get it down him via syringe, with in a minute or less he's vomiting. It's a nightmare. This past weekend Jack had a fever and it was climbing rapidly, he refused to drink anything I gave him with Tylenol in it, coupled with increased heart rate and rapid breathing, needless to say we ended up in the emergency room. Once again, they wanted to give him oral Tylenol, after explaining to the nurse that, that was why we here in the first place, she suggested a suppository form of Tylenol. How did I not know about this? Even the woman at the pharmacy said she'd never heard of it before. And later this week it was discovered that Jack had an ear infection, the reason for the fever. So of course the doctor wanted to prescribe an antibiotic, twice a day for ten days. I almost started crying, I told her about our struggle. After two years and two pediatricians later, our current Doctor said "I could give him a shot, although I hate to interfere with the progress we have made when he comes here!"  Wait...What? There is a shot? All this time, all the screaming, kicking, spitting and tons of vomit later, there is a shot? After my irritation settled down, I could not believe I had not thought of it sooner. Of course we'll take the shot, one and done or ten days of hell...hmmm?  

Today on one of my support groups on Facebook, a mother posted about her struggle with medications and the horrific ordeal that comes with it, and it occurred to me, I am not alone. So I thought I would share this new found information that doctors have apparently failed to tell many of us. Whether your child is "normal" or autistic, the struggle is real for all parents, these two alternatives have been a life saver for us! 

Hugs from a fellow Momma Warrior

Em 

Day One: Applied Behavior Analysis Therapy

Yesterday was Jack's first day of therapy. He will start out at three days a week for 3hrs/day. We call it school, but it's not even remotely like school. Jack has three wonderful young ladies who will be apart of his team. Today, we met Whitney and Andrea. I think Jack fell in love with Whitney right away, because after his 6 minute warm up period he gave her a hug, called her momma and asked her to go with him! I lingered for about 30 minutes to make sure he was adjusted, or should I say until I was adjusted! Then quietly slipped away and left my baby boy with complete strangers for the first time in his life. Then the strangest thing happened, I got in my car goggled the closest Starbucks and Target and was on my way! No sobbing, no heart strings being pulled, "that's weird" I thought, "Am I a bad mother because I am so OK with what just happened?" Nope, no I'm not, because I know he is in amazing hands and the therapy he is starting is going to bring great changes for Jack, and for my husband and I. He did great, and only had one melt down during a diaper change. When he came running out the door and saw me, his big smile melted my heart and of course the way he yells momma at first site of me and runs toward me, arms open ready for a hug is priceless. I asked him if he had fun and he replied "so fun"! So day one was a good day! I know the challenges of this transition are still in front of us, and this week is causal play and easy going so he can bond with his team, the real work begins next week, when actual therapy gets underway!

Applied Behavioral Analysis therapy "focuses on the principles that explain how learning takes place. Positive reinforcement is one such principle. When a behavior is followed by some sort of reward, the behavior is more likely to be repeated. Through decades of research, the field of behavior analysis has developed many techniques for increasing useful behaviors and reducing those that may cause harm or interfere with learning." (Autism Speaks, see ref. article below) From what I can gather a form of the therapy in action, for example, is they take a simple task and break it down into steps and they work on getting Jack to follow each step with positive reinforcement, adding each step one by one until the task is complete, sounds easy enough!? Well for Jack getting him to focus on one step or following directions can often be a challenge, unless of course it's something he is interested in doing. If he's "busy" forget it. As time goes on task and steps become more difficult as he learns how to perform them. And I am sure there is so much more to it, but like Jack I will learn more as we go. I have come across so many people that have nothing but amazing things to say about ABA, like how quickly they're child started to progress, how much it changed they're lives for the better and how some children similar to Jack did so well they graduated from ABA after six months and headed off to preschool or kindergarten! So I am absolutely positive we have been in the right place at the right time and catching his autism early enough, that he too will make great strides! The future looks bright now if only I could find my shades!


 Hugs from a fellow Momma Warrior
 Em

Applied Behavioral Analysis Therapy

I think I'll just spit this out right here!

Jack has started an awesome new phase of gargling his juice or water and then spitting it out where ever he stands.  It super awesome really!  He enjoys spitting into bowls that previously held a snack, a basket full of toys and most recently picking up the vent cover and and letting it flow right down into the vent! Absolutely amazing I tell you! I can't decide which is my favorite, but the basket of toys now sprayed down with sticky juice, and having to wipe down every single thing piece, one at a time, is a real joy! Truly time well spent since I have nothing better to do! I've been told horrific threes don't have anything on the terrible two's, and as we draw closer to three I am beginning to believe it!  Between toys hurling through the air within seconds of playing nicely to liquid spewing from this little man all over the floor, the trips to time out have become a regular destination.  My husband and I are at our wits end to say the least, but we push through with deep breathing techniques (haha ya right) and try to move on. I can't say this post will have any real useful advice, except try to remain calm.  Easier said then done of course, I have had plenty of moments where I lose my cool, but it's usually because I've just been smacked in the face with one of those toys that went flying through the air.  One thing I can say that works beautifully for the time out of a toddler is using that good ole pack-n-play. He never liked it in the first place, so it didn't get much use when he was an infant, but now it's getting some real miles on it.  Jack doesn't stay in a time out very well, as I am sure most 2 somethings don't, so this has been a real game changer for us.  As I try to remain consistent, you spit you sit!  I can honestly say I'm not sure time out makes any difference, as he continues to do whatever he feels like! The lack of impulse control is at an all time high! But again we just keep going, pushing forward, praying daily this phase ends soon!! Good times and wet rags cleaning up the messes till then!! 

A daily dose from a fellow Momma Warrior 

Em

Compassionately Frazzled

I so can relate to the attached article and wish more people like this were standing behind me at check out. I often find myself in public situations frustrated, frazzled, and exhausted. And to be honest I do try to avoid it if I can, but some days you just hit the store hoping and praying for the best. Yes, that's my son running up and down the front of Meijer's high pitched screaming, while we wait for daddy to finish checking out. And yes, I heard you gasp and I saw you jump as if startled, even though he'd been doing it for a minute already, all the while mumbling to the cashier, mean while that cashier is looking at me with a look of pity look on her face. However, as I attempt to stop him or contain him it only makes things worse, so we keep going and I try to find something to draw him further out the door. While I understand all moms have been in line while a child is being less than perfect and it's all you can do not to leave it all behind and head for the car.  Something changes though when your child is diagnosed with Autism, suddenly you feel even more insecure about your child's behavior, suddenly you start to notice more stares, suddenly you become more aware of it than before. Pre-Diagnosis, I honestly didn't pay much attention to our surroundings, Jack was wild and some how I thought it was normal, he's two and a half after all. Jack's lack of impulse control is a constant battle everywhere we go, and we do our best to keep him under control. What always seems to work best is our phones, Jack loves his "shows"! However, even with that, we have a very specific amount of time before nothing works, and a melt down is imminent. So yes, we let him run, Jack is a runner and he loves to run fast and shriek with joy. I think for the first time, even my husband has become more aware of the stares and under the breath comments. Recently we entered a department store, and hence began the running. Jeff did his best, but eventually it was to much and back to the car they went, as I rushed to finish, but not before several "get your kid in check" glares. No, it was not our intention to bring our child to the store and let him run around like a caged animal recently released into the wild, but sometimes it happens. Strollers are no longer part of our vocabulary, I mean sure there is one in the trunk, but he's not much of a fan and it only irritates him more being strapped down, unless of course you are running, then it's cool.  I think in the end, I mostly find myself having more compassion for other parents whose kids just don't exemplify perfect behavior, just like the mom in the article.  No mother wants they're kid screaming or making a scene in public, but with so many people out there judging and staring, it's hard not to feel even more frazzled than normal.  A lot of the time Jack is happy and talking, and ya he's trying to remove everything off the check out counter so he can throw it, or lick it and maybe he is a bit louder than I'd like, but if the only way I can get your compassion or understanding is by wearing a "I love a child with Autism" t-shirt, well ya know what, I don't really give a shit what you think.  I'm a mom, my child has autism, and what you don't get, is he is being really good right now, but by the look on your face we've ruined your grocery shopping experience, I'm so super sorry! Now if only I could find that damn sarcasm font!

Hugs from a fellow warrior

Em 

https://www.autismspeaks.org/blog/2014/03/26/dear-mama-ahead-me-line

17q12 Microduplication Syndrome

Today we met with our genetic Doctor who unfortunately was not able to give us much more insight on 17q12 Microduplication Syndrome. However, I kind of anticipated this since most of my research pointed to what little is known about this genomic mutation, which was only just recently discovered in 2006. What we did learn today is that the "12" is not twelve, it's one - two in the genetic world, and that further testing of Jack's DNA can be done so that we can find out where exactly the extra material of this chromosome is. Sometimes the extra material on the chromosome can be right next to the original one, called "in tandem", while in other cases it can actually fall into a completely different chromosome, referred to as an unbalanced insertion or translocation to another chromosome, knowing this could possibly give us more insight on what lies ahead for Jack. 

This is only my PERSONAL summation of the research I have done on 17q12 Microduplication and is only intended to be helpful insight, especially if Google is not your  best friend and reading research case studies is not your forte. Jack's exact diagnosis is a 1.4mb (megabase) of extra genomic material found on chromosome 17. The exact location is the long arm of the chromosome also known as "the q arm" on the portion known as one two, hence 17q12. The one two portion of this chromosome is what has been duplicated and therefore the actual genes contained inside this portion have been duplicated. According to the test results 19 of Jack's genes have been duplicated. Exactly what roles all these genes play is not known. However, two common genes in this area are HNF1B and ACACA.  HNF1B is found in and plays a role in the development of the pancreas, liver, stomach and lung. Known diseases related to this mutated gene are various kidney diseases, diabetes syndrome and noninsulin-dependent diabetes mellitus. It actually appears to be a "common" characteristic for people with this mutation to have kidney issues and diabetes. While ACACA is a protein coding gene and is found through out the body and plays a role in metabolism, specifically fatty acids, glucose/energy, lipids and ketone body metabolism, just to name a few. But I have yet to find any relevance to this gene in my research, although I have not done any research with relation to the deletion of the 17q12 chromosome. With all this being said, there is so much information out there about these two genes, I am merely summarizing what I have read  and can "ugh" understand! By no means should any of this information be used in place of any information you receive from a doctor. I am merely trying to give some examples of the known genes that CAN OR MIGHT be affected.  

While in reality little is known about all the exact genes located in 17q12 and what roles they play in the big picture, more research needs to be done on this exact area of chromosome 17. What they do know is that there are several known traits or characteristics with this duplication. Some of the characteristics are intellectual disability, cognitive development, speech and language delay, sleep issues/disorders, behavioral difficulties; i.e. aggressive behaviors, or self-injurious behavior, gross motor delay, all of which can be directly linked to autism, also seizures/epilepsy, hypotonia, cleft palate, glaucoma; and afflicted tissues of the eye,  tracheo-esophageal fistula and defect in the atrial septum. Because of this diverse range of traits and the rarity of this genomic mutation, it's easy to see why more research needs to be done. Which is why we have chosen to participate in the 17q12 Project Research program based out of the Geisinger's Autism and Developmental Medicine Institute in Philadelphia.  See link below for more useful information about this project.

If you are looking for a cause you won't find one, although as a parent you may be a carrier. My husband and I both will be tested in the near future to see if one of us may in fact be the carrier. What's so incredible about this mutation is that so many people can live completely unaffected lives, with no characteristics whatsoever. The other anomaly is the de novo aspect, where neither parent is the carrier.  All in all, it's rare, its diverse and they "geneticists", know very little as to the why or the how, but hopefully as research continues and new technology emerges, we will know more, we will one day get answers. We are the pioneers for 17q12, and for all genomic mutations for that matter, and I encourage anyone who has or cares for someone with a genomic mutation to get involved in research programs, even though it may be a small part of a future understanding, we can help. Personally, I know that this will affect my future family, Jack is a carrier and some day he will most certainly pass this on and I want him and his children, my grandchildren, to have more information than I do!  

Even though we did not learn much more about this chromosome duplication or what the future holds for our little man Jack, what we do know is that by the grace of God, he presents only the moderate to mild autism related characteristics of this mutation, and we will continue to claim via God, that nothing else will manifest. I will, say it is very difficult reading about this mutation and not knowing the future is frustrating and frightening. However, I will continue to stay positive and completely grateful for where we are today. 

If you or someone you love has been diagnosed I have included a few links that I have found very useful while trying to research 17q12 Microduplication Syndrome. Also on Facebook there is a closed group called Chromosome 17q12 support group, and consists of both the deletion and duplication of 17q12, connecting with other parents has really been a useful resource, for not only trying to understand the mutation but to also to know that although it's rare, we are not alone.

Hugs from a fellow warrior,

Em

Links:

17q12 Project

Overview of Clinical Symptoms of 17q12 Deletions and Duplications

Epilepsy Genetics & 17q12 Microduplications

Also see link to Unique on the right of this blog!

I'm not frustrated, you're frustrated!

We all have those days, we even have one of those days followed by one of those nights! When your toddler is pulling at all the frustration strings, pushing every button, even the ones you didn't know you had. Me personally, I call it an autistic day. Jack has a ton of what I call normal toddler days with normal toddler emotions. But then there are the autistic days, where his emotions run extra high and extra low, where he loses control and nothing will distract him from said current mood. As a parent who is desperately trying to understand this little person, and what him makes him tick, what triggers him (everything & anything is in the list so far) it's difficult at times to not let my own emotions get the best of me, especially on the really bad days. Yelling at Jack literally doesn't phase him...ever. He will even, for one second, stop and stare at me like "what the hell is wrong with you?" And then continue on with his "freak out."  And yet here I am, yelling at him, followed by crying because I knew my reaction was wrong. I knew it wouldn't phase him and I feel that because he processes everything so differently than your average two year old, I should not yell at him because at the end of the day he can't control these emotions and behaviors. And I by no means think that I am not experiencing the terrible twos that every mother has experienced, don't misunderstand, autistic or not, every child and parent goes through this phase. Really my main point is the frustration on my part, my anger and how I handle Jack when these angers and frustrations arise. I need to try and remember to take a step out of the situation, take at least one deep breath, and start again, to help my son recover from the current episode. Because whatever I am feeling right now he is feeling 100 times more. And honestly, sometimes I feel like my frustrations are more likely triggered when these episodes come on and it's interfering with something I want to be doing, selfishly, "your emotional melt down Jack, is interrupting momma's time, dammit!" It's these moments I really need to check myself, it's not always just Jack that triggers me, it's me triggering myself, taking it to the next level because his moment is interrupting me. So in the end, sometimes, we as parents need to check ourselves...why am I yelling at my child, why am I really losing my cool?  Maybe just maybe it isn't the meltdown it self that is causing our own frustration or anger, it's the emotion behind the frustration that needs be put aside, so that we handle the situation better. This meltdown, this episode, this tantrum has nothing to do with you or your current desire to be enjoying yourself at a family gathering or unloading the dishwasher, whatever it is that you would rather be doing, this meltdown has to do with your child experiencing a frustration that he can't handle. It's easier said then done, I know, trust me, I know, but I am taking one episode at a time. As we work our way through this, I look forward to therapy, therapy to give Jack and Jack's momma ways to handle life's frustrating moments, because when that Thomas train falls off the track and all hell breaks loose, we both need to learn how to keep our cool! 

Hugs from a fellow warrior, 

Em 

Xoxo

Being positive through the fear

Some one said to me recently "I choose to be positive about this, I guess I'm just a positive person."  And I suddenly I had a vision of my own brain, like the cartoon movie Inside Out, my little Anger buddy was screaming "Newsflash" I am a positive person, while Joy was talking him down, so that i didn't say something without a filter. (If you haven't seen this movie it's a must, "newsflash" is a regular phrase for Anger!)

But seriously, I consider myself to be a positive person most of the time, but I also have moments as Sadness (Another Inside Out reference).  When it comes to my son, I have a lot of fears of the unknown, as all parents do, but I have watched new behaviors start out of nowhere recently, that continue to add to his list of flags for autism.  Because of those fears, I guess sometimes I don't sound like a positive person, when actually I am completely positive that with the right therapy and hard work, Jack will be fine. However, I am also I realist, I know that because of his duplicated chromosome we have potential issues ahead of us. Epilepsy is a common trait among other children with 17q12 Mircodupilcation Syndrome, a symptom manifesting anywhere between 7 months and 7 years, in children currently involved in the research being done regarding this mutation. I also know that epilepsy has affected relatives on my husbands side, and that Jack had a seizure at six months, further projecting my fear. Yes I know, don't think about what hasn't happened or a future you can not control. But this is my son, this is the child I dreamed of my entire life, and like all parents, I will worry about him for the rest of my life. But that also doesn't make me any less positive about the out come. In reality, it simply makes me a parent. I sometimes feel like I am swimming in a fish bowl, filled with fear and swimming in circles, desperately trying to jump out into the ocean, where I can swim freely, away from those fears.  I am constantly talking to myself, the voice inside me tells me not to be afraid, that my son will be fine. I often find myself surrounded by people saying the same thing, and mostly I appreciate the reminder on the days I find it difficult to listen to my own inner voice. I guess I am learning to truly embrace that fear, knowing it is not something I will overcome in a day, but in time. I guess what I am trying to say is, we are all positive parents, learning to embrace yet another new and unknown fear that comes from an unexpected diagnosis. If we weren't truly positive parents, our children would be wearing Hazmat suits, stuffed with pillows when we send them outside to play. So in the end, allow the fear to wash over you once in awhile, it's ok, just don't forget to wash it off tomorrow! 

Hugs from a fellow warrior,

Em

Xoxo