Autism or Fragile X? A Rare Emotional Post

Lately I don’t “diary” much anymore.  Mainly I blog and sometimes I journal.  Today I want to “diary” though, just to vent a little bit of frustration and sadness.

Today the doctor called and told me she was finally able to find a lab that could draw (blood) for a test for Fragile X Syndrome.  So the order is at the doctor and we just have to pick it up and take it to the lab.  I am not looking forward the scene where Charlie gets his blood drawn for this.  I can’t imagine he will sit still for it, and I’m sure it will be traumatic.  But I don’t want to dwell on that.  If the roads are clear tomorrow, we will go get that test and get it going as soon as possible.  It takes 2 to 4 weeks to get back.

Anyway, if he does have Fragile X, it would explain a lot.  The autistic behaviors, the language delay, the persistent developmental and learning delays, etc.  If the result of the test is “negative” then obviously good that he does not have Fragile X.  But it would still leave the question of what is truly wrong with him.  He is autistic, it seems, but not to the extreme that most expect when they picture someone with autism.

If the result of the test is “positive” then obviously I will be sad that my child has this chromosomal disorder.  But it would explain so much.  Fragile X can cause autistic-like behaviors, mild to severe retardation, and obviously developmental and speech delays, and more.

If you don’t know what Fragile X is, here is a short explanation.  It is a genetic mutation of the X chromosome in one’s DNA.  Boys have an X and a Y chromosome and girls have two X chromosomes.

In this particular mutation, a string of DNA along the X chromosome is either missing or is not there to the extent that it should be, creating a “fragile” appearance to the structure of the X, thus its name, “Fragile X Syndrome.”  This mutation causes an overproduction in the body of something called “mGluR5″ which causes all kinds of problems.

Because it is chromosomal, it manifests not just in developmental/inward problems, but in physical appearance as well.  In addition to the autistic behaviors and delays I’ve already described, it also can cause:

• Long or pointy ears
• Long face
• Large head circumference
• Strabismus (being cross-eyed)
• A symian line on one or both hands (this is a single line all the way across your palm, instead of two lines that curve to miss each other)

And a few other things I can remember just at the moment.

Charlie has several of these features.  Long face, pointy ears, large head circumference and mild strabismus.  Oh, and he is in the 98th percentile for height, which is also a feature of Fragile X.

Here is the kicker.  Fragile X can occur in both boys and girls, but it almost never shows up very obviously in girls because they have TWO x chromosomes, which makes up for the deficit in the structure of the X.

And since it is genetic, if Charlie has it, I probably have it – or gave it him, rather.

And I have several of the physical features as well.  I have the symian line on my left hand, long face, very long ears and a big head.  I also have some of the behavior symptoms that show up most often in girls.  Such as extreme shyness (especially when younger) and typically being really bad at math, to the point where just intermediate math is really hard (that’s me!).  I’ve also always been pretty day-dreamy and ADD (not hyper, just have difficulty concentrating and am easily distracted).

I also communicate MUCH better via the written word than the spoken word.  So much so that I often finish a phone conversation and jump on the computer to flesh out what I was trying say to someone in e-mail.  This is a feature that is coming out in a lot of autistic people who can’t communicate by speaking at all, or very little, but who can write out communication on a typewriter as if they had a degree in literature.  It’s kind of wild.

So anyway, if you ever interacted with me and said, “That girl just ain’t right” – It’s quite possible that you were dead on the money, provable by blood test.  LOL

Anyway, if I’m wrong, I guess at least I know a lot about an interesting subject.  And just move on to the next step of trying to help him.

If I’m right, then it’s on to figure out just how to treat him.  He would need to be seen by dysmorphologists, specialists, and see what else is available to help him.  I guess I will cross that bridge when I get to it (in 2 to 4 weeks).

In the meantime, I did not mean to write this big, long post.  I simply came on here wanting to say that my Bubbee has a hiccup in his brain, and I don’t know how to help him, and I feel sad.  I really hate seeing him struggle.

Here are a couple of pictures of his cute, pointy ears:

With Bells On, Sweetie Pumpkin….

Charlie brought home an invitation from school for his first ever school play.

 I’ll be there, kiddo!

Looking forward to it like you don’t even know!

Madison County Covered Bridges

Charlie and I went to Madison County today.  They were having their annual “Bridge Fest.”  There were about 1.7 Million people there, though, and nowhere to park.  So we just went to the nearby countryside and drove around and saw cows and farms and covered bridges and things.

 Additionally, a photographer from the Des Moines Register was at one of the covered bridges and took a picture of Charlie and me candidly.  Afterward, she asked our names and said our picture may be in tomorrow’s Register or in the West Des Moines Register that gets delivered to our mailbox once a week.  That was kind of cool.

 Here are the pics I took, anyway:

Why Didn’t Someone Tell Me?

If your child is disabled and requires diapers after the age of three, the diapers are considered a medical necessity and can be claimed on your medical insurance.  I have spent approximately $1600 since Charlie turned three on diapers.  (He is now over five years old – they cost about $15 per week.)

Fucking A.  Well, maybe this information will get to someone else.  I could sure use $1600 – I paid enough in insurance premiums, ya know…..  t’aint fair!

Charlie’s Art Work

Here’s an evolution of Charlie’s art work.  He has been drawing the same picture for the last couple of months, but it evolves a little every time he draws it and is now quite intricate.  In a couple of them you can see his “mirror writing” that he does sometimes.  Name is written right to left with all the letters backwards.  If you hold it up to the mirror, it reads correctly:

Charlie Is Autistic

Ok, I’ve squashed the last bit of denial that was keeping me from seeing that Charlie is autistic and have finally resigned myself to it.  Honestly, not fully knowing it until now has been for a variety of reasons.

 A G.P. won’t diagnose autism – only refer them to a specialist.  And my G.P. referred Charlie to a specialist last year, but I could never get them to call me back.  Soon after that I moved, and since then I haven’t had insurance.

But he had had a screening with the Special Ed people in Redmond.  Guess what?  They won’t diagnose autism either.  The most they would say was that “there is something organic going on with him,” and gave me a book on sensory processing disorder.

Then I moved to Iowa and got in touch with special ed here.  They referred me to Early Childhood Special Education and Charlie was enrolled in special ed preschool.  I thought it was interesting that they would put him in with autistic children, but it seemed like a good fit, and they said they felt optimistic that they could work with him.

He has made some really excellent progress in the special ed presechool.  But he still has so many problems that I have been researching autism after some comments by the people at daycare.

 My findings showed me he had PDD-NOS – which is a diagnosis when a child has MOST of the symptoms of autism.  I was still holding out….

 The main symptom he did not seem to have is the “non social” symptom, where the child doesn’t make eye contact and doesn’t want to be held and prefers to play alone.  Well, it turns out that is criteria for younger children.  And he did have those symptoms at the appropriate age.  Very limited eye contact and only would only tolerate being held if extremely tired or sick.  Even when he got hurt, what he mainly wanted was his Clifford (object over person).

He has all the other symptoms, and I have pictures and or video of all of them.  I just thought they were his own little unique quirks.  Just Charlie being Charlie.  But thanks to a (leading) question by Charlie’s teacher about whether his eye contact was improved from toddler-hood to now and whether he used to like to be held, I now have my answer.

Lately I’ve been searching on autism in youtube after seeing a picture in wikipedia of a child who had lined up all of his toys in a straight line and then fallen fast asleep next to them.  That was my kiddo (figuratively-speaking).  That was not a quirk as I had thought – that was a symptom.

So was the hand-flapping, spinning (without getting dizzy), developmental delays, language delays, “zoning out” with glassy eyes (which I have taken several pictures of because I thought it was so cute he had such a serious expression on his face), severe tantrums through age 4 and beyond, inability to pedal a tricycle (classic symptom), sensory processing disorder (what I thought was a diagnosis was actually a symptom within the syndrome), fascination with doors, light switches, ceiling fans (extreme fascination), need for routine, repetition, echolalia in speech (repeating what you say or saying what he thinks you will say and seeing speech as a ritual and not as communication), delay in potty training (we’re still working on it at age 5), and etc. and on.  He’s got them all.

It’s eerie to search on autism symptoms on you tube and basically see my child with different faces – meaning, children doing exactly what Charlie did.  And to see that it’s a symptom and not a quirk.  There is also something strangely calming about it.  For years I’ve known that something wasn’t right.  At least now I know what it is and that he’s not alone.

The only thing I don’t have right now is an official diagnosis, but that will come as soon as I get insurance again (very soon), and get him to a specialist.  As recently as a couple of weeks ago I was still in denial, and I wrote an article for Associated Content about his PDD-NOS.  I even made a post last week or so and referred to his problem as ADHD.  Well, it ain’t….

It’s autism.  And it scares me.  I’ve seen children with autism who are definitely much worse off than Charlie.  I’ve also seen children with autism who are definitely much better off than Charlie.  I’ve also seen normal children his age, and my heart drops into my feet when I realize that he is missing a normal childhood.

And although I wouldn’t trade him for anything, and everything he is makes him so special and unique, I really fear for his future.  Not only will he miss a normal adolescence and adulthood, it’s not known if he will ever achieve any sort of independence.

And I am an older parent and will definitely not be around forever.  Pretty much every hope and dream I had in life beyond having children is gone (don’t read bitterness into that – it’s a whole other subject) and has been replaced with hopes and dreams for Charlie to reach adulthood and be able to exist with at least a bare minimum of independence and hopefully a trust fund to carry him.  And the sincere and desperate wish that those who care for him after I am gone are caring, honest and have his best interests at heart.  Mean, uncaring, opportunistic people take advantage of many of us fully able-minded people.  I fear Charlie’s running into one of these as an adult without me there to protect him.  But then, that is wayyyyyy into the future.  (But that is pretty much my worst fear and what haunts me at night.)

So, my beautiful Sweetie Pumpkin is not what I thought he would be.  He’s not even who I thought he was a few weeks ago.  But he is very special (and I don’t mean that in a “special ed” kind of way), and he is very beautiful, and he is my son.  Period.

Here is a picture of Charlie with the “garden” he created out of refrigerator magnets. If you look closely, you can see a house (an “a” is its roof), the sun, some flowers with other magnets coming away from the middle as the petals, and the ground with tree trunks and such on it. He was EXTREMELY proud of this. No one gave him the idea to do this – he just did it out of the blue one day:

Sometimes I’m Thankful for ADHD

Tonight Charlie and I were watching TV and had this conversation:

CHARLIE:  Mommy, I’m sad.

ME:  Why are you sad?

CHARLIE:  I want my Mommy

ME:  I’m your Mommy, I’m right here.

CHARLIE:  No, I want my Daddy.

ME:  Oh.

CHARLIE:  Where is he?

ME:  He is way far away.

CHARLIE:  Can we go see him?

ME:  No, sweetie, we can’t.

CHARLIE:  But I want to.  What’s that?

And he points to a robot on TV, and that’s the end of that conversation.

 I’m sure it won’t always be so easy to wrap up that conversation, and there’s a lot of painful realization to come.  But thank God that was it for now.

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