Findings and Communication

Discussing my "findings" with Faith's O.T. about what I've came across, it was brought to my attention that Faith has even more of the "symptoms" of the 17q21.31microduplication.  She has hyptonia (low muscle tone).  I didn't think she had this because she is SO stinking strong, but she has hypermobility to compensate for having low muscle tone.  These are things she is working with the OT on too.  Whenever she is in a relaxed state she is incredibly limber and can "flop" just about any direction.  She can do that when she's awake too, she just doesn't tend to "flop" but is SUPER flexible.

Those of you who've been following along over the past few years know of the difficulty we had with trying to get her a communication device and that we were ultimately denied it, after over a year of working at it.  Then around the middle of PreK we tried to get her a ChatBox 40+ (or something like that), we were unable to get it too as our insurance didn't work with the company who put that specific device out.  We finally got her a GoTalk 20+, it came in around the beginning of May.  I waited until she was out of school to try to program it.  I wasn't able to get it to record anything or to change levels.  I thought maybe I just wasn't smart enough, so I took it in to people who've had more experience with it than I have.  They were unable to get it to record or change levels either.  I then called the company.  One lady I spoke to thought I may have accidentally put it on "level lock", but it still wasn't doing anything after I did what she recommended.  She had an actual "tech" person contact me the next day and we went through the steps again.  Still not working.  Had to sent it back to them.  They are going to either fix it and send it back or send me an altogether new one.  Of course when Faith saw that there was a sticker on the back she ripped it half off.  It didn't look so new when I sent it back to be fixed.  With any luck we will have it back and fixed in a couple of weeks, and try to work with it more before school gets going again.

Gettin' A Little Science-y (but not too much).

I recently decided to start some investigating on the findings the geneticist presented us with back in December on the genetic testing and the soft metabolic testing.  He stated that there were "currently no clinical significance" with the bands that they found the copy gains and copy losses on.  So, I got to thinking.....maybe them all separately weren't anything, but maybe put together it was just enough to impact Faith the way it does.  Her OT has said she is one of the most difficult cases she's ever worked with.  We've even increased OT to see if it will help her out.  The most difficult thing is that there is nothing she's motivated enough by for it to be a "reward".  Anyway, I'm researching the genetic findings at the moment.  Haven't made it to the metabolic testing, yet.  The genetic mutations they found were: 3p21.31  (40kb) copy loss
                                                 16p13.3 (40kb) copy gain
                                               17q21.31 (90kb)  copy gain

Now to sound *kinda* not very smart.  I've no idea if 90kb is small enough or big enough to be a microduplication, or if a "copy gain" or "copy loss" is the exact same thing as a duplication or deletion.  I keep on searching.  I'll eventually have it figured out.  Eventually.  I've read some of the medical journal entries for it.  That stuff is not easy to read.  I remember doing several peer reviews while I was in college and I found them to be about as entertaining as watching paint dry (no matter how interesting the experiment was).  Fairly sure they even caused me to lose brain cells instead of becoming smarter.

 If there is something to it, the 17q21.31 copy gain DID sound like it may be of clinical significance.  There's tons more info about the deletions, and not so much about the duplications.
So, here's some info I found about it.  It's kinda long (but one of the only pieces that was written in more of a layman's terms).  p.s. I can't get it to un-bold half of this stuff.


17q21.31 microduplication:

This condition is caused by a gain of genetic material (called a duplication) on chromosome 17 and has only been recently characterized. There are very few people reported with this diagnosis in the medical literature, and each of them has features of autism spectrum disorder as well as behavioral problems.
There is no cure for this condition, but having a diagnosis can help guide a person’s health care. In addition, having a diagnosis of 17q21.31 microduplication syndrome in one family member allows for targeted testing of at-risk family members.

Features
17q21.31 microduplication syndrome has been associated with many features. These range in severity from person to person (variable expressivity). It is possible that some people with the duplication may not have any features at all (in scientific terms, the condition has reduced penetrance and a person with the duplication but without clinical features is considered “non-penetrant”). In other words, having this duplication likely leads to a predisposition for certain features. Some of the more common features are discussed below.
Some people with 17q21.31 microduplication syndrome have been reported to have low muscle tone (hypotonia). If this is severe, it may lead to feeding difficulties and slow weight gain (failure to thrive). Additionally, there have been reports of loose joints (hypermobility) and inguinal hernias that require surgery.
A person with 17q21.31 microduplication syndrome typically has subtle, unique physical features. However, it may be difficult for someone other than a genetic specialist to recognize them. These features may include large-appearing ears that have fewer folds than what is average, a short nose, a small chin and mouth, and a tendency to have more body hair than expected (hirsuitism).
A person who is diagnosed with 17q21.31 microduplication syndrome may have anywhere from normal intelligence to severe intellectual disability. Because only a few people are known to have this diagnosis, it is difficult to make predictions about the cognitive abilities of someone when they are first diagnosed with the condition. In general, people with this condition are diagnosed with autism spectrum disorder based upon poor social interactions, verbal difficulties, and behavioral problems.
As this condition has only been recently characterized, it is important to keep in mind that over the next several years, more information is likely to become available. Currently, it is difficult to predict the chance for a person with 17q21.31 microduplication syndrome to experience each of these associated features. As more people are diagnosed, and as the parents of those children are tested, we may gain a better understanding of how many people have the duplication, and what percentage of those people have each of the associated features.
Statistics
17q21.31 microduplication syndrome is a rare condition that has only recently been characterized; therefore it is difficult to pinpoint just how often it occurs. This is because there is a wide range of disability, and some people with milder features may not be diagnosed. Most duplication syndromes affect people of all ethnicities and both genders equally; so, it is expected for this to be the case with 17q21.31 microduplication syndrome. Based upon other, more widely-known duplication conditions that have a similar cause, 17q21.31 microduplication syndrome is estimated to occur in about one out of 20,000 to 30,000 people.

The cause of 17q21.31 microduplication syndrome is a duplication of multiple genes on one copy of chromosome 17. This duplication is often the result of nonallelic homologous recombination or NAHR.
NAHR occurs when regions of the chromosome that have similar sections of DNA are misaligned. When the chromosomes are copied the result is one chromosome with a duplication and deletion. When this occurs in reproductive cells (sperm or egg cells), a baby can have a syndrome associated with either the duplication or deletion. The syndrome caused by the duplication and the one caused by the deletion are called reciprocal conditions. 17q21.31 microdeletion syndrome is the reciprocal condition to 17q21.31 microduplication syndrome. It is important to note that a person can only have one of these conditions. When a person is found to have this duplication, it may be either de novo or inherited. If the child is the first in the family with the duplication, it is said to be de novo, or brand new). Alternatively, it is possible that the child inherited the duplication from a parent. The presence of 17q21.31 microduplication syndrome, whether de novo or inherited, is not caused by anything the parents did before or during the pregnancy.

This section is meant to be a guide for some of the more common features that may arise in a person with 17q21.31 microduplication syndrome. Someone with this diagnosis may not have difficulty with all of these features, or may have additional problems not listed below.
It is important to keep in mind that the medical community is still learning about the features associated with this condition. Over the next several years, more information is likely to become available. The following sections are based upon the published medical features of people who have been diagnosed with this condition.

During pregnancy
In many cases, there are no signs or features during pregnancy that indicate a developing baby has 17q21.31 microduplication syndrome.
As a newborn and infant
Infants are generally born around the expected due date. Overall, their birth weight, length, and head circumference are typically within the normal range.
There are generally no birth defects or major medical problems, but some infants may need repair of an inguinal hernia, which is a fairly routine procedure. One infant with this condition reportedly was admitted to the hospital due to failure to thrive. There are many causes for failure to thrive: these include feeding difficulty associated with hypotonia or developmental delay/intellectual disability.
As infants grow into childhood, some have been noted to have a smaller head size than expected (microcephaly) and others have been noted to be shorter than expected. For this particular condition, microcephaly and short stature have not been associated with any medical problems. Hormone problems may potentially be a cause of the child’s short stature, and it has been suggested that people with 17q21.31 microduplication syndrome be evaluated for hormonal problems.
As a toddler and during childhood years
Toddlers with 17q21.31 microduplication syndrome generally have delays in their development. These include delays in achieving milestones such as walking, talking, and also social development.
Children who have been reported with this condition learn to walk, but this may occur later than expected. Of the few children reported with this condition, they learned to walk somewhere between 12 and 60 months of age.
Children with 17q21.31 microduplication syndrome also learn to talk, but this may also be delayed, and may ultimately be limited. Specific verbal difficulties include poor auditory memory, sentence formation, and word finding abilities, as well as inability to follow directions.
Finally, children who have been reported with this condition have behavioral problems. These include aggression, outbursts, and obsessive-compulsive tendencies. Additionally, people with this diagnosis may be diagnosed with and treated for neuropsychiatric disorders such as depression and attention-deficit-hyperactivity-disorder or ADHD.
Much like other children, those with 17q21.31 microduplication syndrome will have common illnesses, injuries, and challenges. Children with 17q21.31 microduplication syndrome have had sleeping problems as well as difficulty with toilet training.
A child with 17q21.31 microduplication syndrome who has intellectual disability may require extra attention in the school setting. For these reasons, as well as the possibility for behavioral problems, a child with this condition should have a neurodevelopmental assessment through early intervention services, a developmental pediatrician, or through the school system. Early intervention services are typically available through state programs when a child is young (usually up to three years of age, but check with your local provider or school district). After that time, a developmental pediatrician or the school system should provide assessments that will help to create an individualized education program or IEP. IEPs help ensure that a child receives the assistance he or she needs to reach educational goals based on hisor his personal abilities, and are updated yearly by the child’s team of teachers, administrators, and parents.
During teenage and adult years
In general, for a teenagers and adults with any genetic condition, lifetime achievements will depend upon his or her level of intellectual disability. For instance, being able to complete high school (generally with some special education or resource assistance), go to a vocational training program, hold a job, and live independently are all possible, but likely to happen more often in those with milder intellectual disability.
It has been noted that people with this condition have poor or limited social interaction with others. Because teenagers and adults with 17q21.31 microduplication syndrome may not understand social cues and may have poor non-verbal communication, it can be difficult for them to develop long lasting relationships. Through various organizations, teenagers and adults may be able to connect with others and develop these friendships.
Because 17q21.31 microduplication syndrome follows an autosomal dominant inheritance pattern, each child born to a person with this diagnosis has a 1-in-2 (or 50%) chance of also having 17q21.31 microduplication syndrome. When considering parenthood, it is important to remember that the type and severity of features can vary (variable expressivity).
Although the medical community does not have specific information on older adults with this condition, there have been no major medical complications reported to date that would indicate a short life expectancy.

In a few of the other pieces I've read they talked about the difficulty sleeping, or having in general a messed up pattern (I'm sure the scientific journals put it that way). ;)  They also discussed the non-verbal to very limited speech, serious difficulty with potty-training, having to have dental work because of softer (or teeth with no enamel), along with the person having "bouts" of laughter that can last for hours.   All of those things are going on with my girl.  Along with a lot of the stuff above.  She doesn't have extra hair, or difficulty with mobility.  There may be something to the eating as she tends to prefer food that has the consistency of mashed potatoes, peanut butter, insides of oreos, pudding.  Who really knows for sure (I do not, just trying to make sense of some things).

Parental.....Fail?

In the beginning of March I bought Angelus 3 new pairs of jeans (a size 10 Regular), 2 warm up pants and some other clothing.  He was outgrowing the jeans I had just got him back in December.  Around the end of March he comes out of his room all dressed for school, saying he can't wear ANY of his blue jeans.  They're too small.  I thought "you have got to be kidding me!"  He continues to show me just how they're hurting him terribly, and sure enough there is a painful looking indention on his right side.  He had one on his left side to a lesser degree. 

I did the only thing I knew to do, went to the store and bought him two more pairs of jeans.  I knew he wasn't nearly tall enough to go up to a 12R, but couldn't hardly believe my boy was gonna be a size 10Husky.  I only say that because I know the size of his parents and the size we were when we were 9ish.  I was a pint-sized person...couldn't have been more than 3ft. 8in or so and weighed on the lower end of what a 3ft. 8in person should. While Tommy apparently didn't top out at more than 40 or 50ish pounds in 3rd grade (I really think he told me once that he weighed 40pounds for a huge chunk of his elementary school career).  Although, Angelus is bigger than what Tommy or I either one were at his age.  I've generally thought he seemed to be smack average size.  Occasionally he's a tad shorter than his classmates, but for the most part he's an average sized boy.

Anyway, I buy him two pairs of 10Husky and bring them home for him to try on.  They are insanely too big for him.  Even after cinching up the sides as much as I possibly could.  Come to find out, his 10R (and even a pair of 10slim) fit him just fine.  He just grabbed the closest pair of underpants he came across and they were a size 4.  Ouch!  After discovering this, I knew what I had to do. Clean out ALL of his drawers and closets of anything too small because if not he would just assume it fit and cram himself uncomfortable into it all day.

A Kindergarten Graduation!

Faith graduated from Kindergarten last week and pretty much every time I think

She kept her gown on, but apparently the cap had to go.

about it, I get a little teary eyed.  She walked down the walk way most of the ways by herself.  The kids in Pre-K and Kindergarten got how big of a deal it was and cheered her on.  It was awesome!  Pretty sure it got the biggest reaction of anything that day. I really wish I had a video of it (and if I do get one, I'll put it up here for others to see what great kids she's got on her side).

A boy and his Poppa or Paw-paw (grandpa) played the fiddle....and the kids sang to the song they were playing (which was also the tune to Victory in Jesus, but that wasn't the "catchy" kids song the little ones were singing.  I couldn't quite figure out what it was as Victory in Jesus was all I was hearing in my head).

A boy and his grandpa fiddle playing.

After the teachers awarded the kids with their diplomas the kids each one went up to a little microphone and stated what they wanted to be when they grow up.  Two little girls in Faith's class got on either side of her, grabbed her hand and walked up to the microphone with her.  One of them said...."When Faith grows up, um.....we *think* she wants to be a princess."

Faith is the one with her back to us. The other little girls letting us know what they think Faith may want to be when she grows up.

Perceptions

Or is that sometimes a nice way of saying "judgments"?   I don't know for sure, but I'm positive I've been guilty of "misperceptions" and "judgments" even if I never intended to be or wanted to be. I know others have thought if they were in my shoes, they could've and would have done it different/better...but they didn't or haven't seen all we do at home to make sure our child can cope with going outside around others.  They don't see the endless piggy-back rides, swinging, spinning, turning televisions off, radios off just so she can handle the noises of the outside world. OR the hours of car rides at all crazy times of day or night. The screaming and jumping up and down at us for hours because something is out of whack and she is trying her best to tell us, but we're still not getting it.

The past few weeks I've noticed more parents I know who have children on the spectrum escaped their little bubble and posted about wonderful (and sometimes things that make 'em want to bang their head on the wall) stuff about their children. They commented that it's hard to put that stuff out there for others, and it is.  I've noticed that sometimes getting the support they need is often not quite there, and often it appears that those inside of the autism community can be the cruelest and least supportive.  I don't think they mean to be (at least not usually).  Some have just been doing this longer than others and have had success with various things....while others have had no success with all they've tried.

Someone may think if only the parents would follow this special diet for their child (not knowing they spent a year very diligently on this diet and nothing happened except they couldn't eat hardly anything, but behaviors stayed the exact same).  If they only offered their kid this or that to eat eventually the kid would get hungry enough to try it.  I'm here to tell you that is wrong.  Not for all kids, but some.

Then the whole vaccine debate....if you give your kid vaccines, they're gonna be screwed up.  If you don't give your kid vaccines you're gonna be guilty of them having a whole host of sicknesses and most likely giving them to someone else.  Seriously.  Everything on either side scares the pooh outta me.  Why cant someone just give you transparent information (instead of accusing you of being the worst parent on the planet because you're choosing one or the other....and what you're choosing is generally because it's what you believe is best for your child---which makes you a good parent).

Others think if I just *made* my daughter speak, she would.  Going as far as to say she probably doesn't even understand the importance of speech.  I'm sure when she was so sick for those almost two weeks she would've loved to be able to tell me how to help her so she wouldn't have been in as much pain for as long as she was.  If I just took her to the bathroom every 30min. she would've been totally potty-trained by now (or ya know even kind of).  No one wants their child to be an adult still in diapers, so we try.  That's all we can do, is just try.

So, anyway...I've been trying to put out the good and the bad about what goes on with our girl because, frankly, others need to know it's okay to talk about it and that they are doing a good job being a parent to their little ones (and even big ones). We may be all doing it a little or even a lot different, but doesn't mean it's wrong.  It's just different.  I think as long as you're doing it from the perspective that you're doing what you think is best for your child and you have their best interest at heart....you're being a fantastic parent.  

Depressed vs. Depression

When I was ten my mom had some kind of a mental break down.  I'm not exactly sure of all the details.  My parents probably told me back then (but as a 10yr old I'm sure it didn't all sink in).  She had been sad and angry quite a lot.  I wasn't sure why.  I remember having a talk with myself (inside of my ten year old head) on the exact day it all came crashing down around her.  I told myself..."okay, you gotta be super nice to mom today 'cause she's been really sad or mad and I'm tired of making her feel that way."  Roughly, that was my self talk on this particular day.  I was sitting in the living room, as my mom opened the screen door to the house.  I remember very vividly saying "hello!" and trying to give her the biggest, best genuine smile I could.  She looked at me and just started crying her eyes out.  I tried to apologize.  I must've said that wrong, or looked at her a way I didn't mean to.  After several minutes of her just crying and me trying to apologize for something.....

She looked at me and said; "oh Amy, it's not you.  Not your fault I'm crying. Really, I don't even know why I'm crying."  Later that evening she was in the ICU at the hospital.  We went to go see her. I was confused that crying could get anyone admitted to a hospital, let alone the ICU area.  Anyway, she had beautiful flowers surrounding her bed and a man that drove our church van was there visiting as well (he told 'em he was her uncle so he could see her....she was grateful as we had all grown quite close to him and his wife over the few years of attending this particular church).  They told us she had a mental break-down.  For years after that I believed a mental break down landed someone in the hospital.

When I was 17 my mom needed to go on some medication for a chemical imbalance.  She had also suffered from un-diagnosed severe depression for (roughly 20)years, and her behaviors were screaming that she needed some help. Her and my dad had gone from counselor to counselor (probably around 8 of 'em) to try to figure out to do to best help her.  Every time they got to a certain point in their journey with the counselors, mom would get uncomfortable and say "they don't help anyway" or "they're just mean people".  The 8ish one they saw, mom tried to do that again and I guess dad decided that maybe, just maybe if we encouraged her enough and helped her push through the tough stuff with the counselors she'd get to a more healing place.  He was right.  I remember him telling me..."don't give up on your momma, and give her lots of hugs.  She needs lots of hugs right now.  Even if she thinks she doesn't, give 'em to her anyway."  After mom was given medication she was almost a new person.  I mean, she was still her...her and dad continued the counseling for another year or so and she was better equipped to work through some of the struggles life had sent her way.  I've had Tommy promise me on several occasions that if he sees me going this direction to talk to me about it.  Make me get to a counselor, get on medication before it gets to the point it got with my mom before she was able to get help.  I don't want 17years of my children's lives to go by before getting some kind of help.  Also one reason I'm not -totally- against medicine. I do think sometimes we tend to over-medicate the population, but sometimes it's exactly what's needed for an individual person.

Some people struggle with depression their whole lives. I can't even imagine what that's like for some one.  I've been depressed before.  When a close friend or relative passed away or the ending of a relationship that I thought would somehow last. Those kind of things would make me depressed.  To be sad for days and days without really knowing why or what to do to fix it, hasn't ever happened.  For me, anyway, if I don't realize that someone near me is going through something similar to this it makes me feel like I've done something incredibly wrong and I go back to that ten year old girl feeling like I'm "walking on egg shells" around them.  I mean, I feel that anyway, but if I *see* what it is I realize it's more of a battle within themselves. That gives me more patience and better perception of what's going on.  It's tricky and complicated and exhausting not knowing if you're gonna get the happy/sad/mad person and how to relate to them in that moment.  Even going from having a great conversation to within minutes you can almost visibly see them going "down".  No idea what caused it, but are concerned that you unintentionally said something that triggered that response.

Depression vs. Depressed has been on my mind lately.  So, here's some of my rambley thoughts on it.

Helpers

Autism Awareness (or apparently acceptance is sometimes the more P.C. thing to say) month is over.  I had several posts I was going to put up in the month of April ( about 7ish of 'em).  Good thing I wrote down my ideas/thoughts somewhere.

The school year is coming to an end. We've had a great and trying year all wrapped up into one.  Faith going through 3 different aid's, Angelus having great difficulty with school...to the point we moved him to Faith's school, which has been almost "life transforming" here at the house for us.  It's been such an incredibly positive experience that I'm kinda kicking myself in the rear for not doing it sooner.  If I knew he'd have SO much less anxiety, be less "in your face", be all around just a calmer more leveled kid. I would've done it so much sooner.

Faith transitioning from the different aid's wasn't as "smooth" of a process as I'm sure we would've liked it to be, but with all of the challenges she faces daily (I'm sure there's even more than I'm aware of) she did very well.  She took to all of the different ladies.  Some quicker than others.  As a parent, I always get concerned how that's going to go.  An exchange or two a couple of weeks ago, made me think about some of the things the aides face.  They're primarily there for the kids.  They need to be good to the kids, that's all that should really matter.  But it's not.  It's the most important thing that matters, though.  They have to figure out how to have a good working relationship with the teacher whose room they're in the most and how to best help the child(ren) she's there for without it interfering with the other students learning. They need to have a working relationship with all of the other teachers and school faculty, be able to communicate effectively with different therapists.  Sometimes that's Speech, Occupational, and Physical Therapist (and sometimes even more), work well with the Special Education teacher, parent(s), and children.  I want to communicate well enough with them that they could essentially be "my voice" if I'm not there.  They are sometimes expected to be the "voice" of the parents, child, and school...and sometimes all of those voices are different. Now imagine an aide who has more than one child that they work with.  Maybe two?  Three?  A classroom full?  Often, they're not paid very well and their benefits are generally minimal.  All three of the aide's this year have been very different.  Different ages, different demeanor, personalities, ways they relate to her and to me...but they all had one very important thing in common.  I always knew they cared about my child and wanted to do what was best for her.  They may have all done it differently, but they certainly cared.  A lot.

I was so concerned about us adjusting to them, I had to get comfortable with them and my child needed to be comfortable with them as well that I'd never considered all of the different areas they need to seamlessly navigate.