The ABCs of Fragile X

Happy Fragile X Awareness Day!

A little while ago, for no particular reason, I wondered whether I could come up with Fragile X terms, symptoms, and concepts for each of the letters of the alphabet.  I started it and slowly came up with a good list, but there were still a few letters that stumped me, so I asked the Fragile X Facebook group to help.  That wonderful group of people came through, and together we compiled this terrific list!

Learning about Fragile X Syndrome is as easy as ABC!

A is for ...

Anxiety is a hallmark symptom of Fragile X Syndrome, whether you have the full mutation or the premutation.  Anxiety, unfortunately, often commands and controls FXers lives.

Aggression is another very common symptom that can stem from anxiety and overstimulation.  When children with Fragile X don't know what to do with the intense world that seems to be coming at them from all angles, they may defend themselves in a way that appears aggressive to others.  They don't mean to be.  They are just freaking out.

Autism is a dual diagnosis that at least 1/3 of people with Fragile X also have.  There are currently very few known causes of autism, and Fragile X is the most common genetic one.


B is for...

Dr. Berry-Kravis is a name you will start hearing, once you start following the Fragile X Facebook and email groups and attending conferences and webinars and reading articles about research.  She is a pediatric neurologist at Rush University in their Fragile X Clinic and one of a few dedicated Fragile X doctors, researchers, and heroes.

Boys are most affected by Fragile X.  Girls can have it too, but they usually aren't as affected.  Often girls can lead a mostly normal life, even with a full mutation.

Brushing is a calming method many FXers respond to positively.  An occupational therapist can show you the correct technique.


C is for...

80% of boys with Fragile X have some Cognitive disability.  It's unfortunately the most common and most debilitating characteristic of Fragile X.

We live for and go through a lot of Chewys in our house.  Chewys are little pieces of rubber, often shaped like letters, especially made for kids with autism and other sensory disorders to chew on. They help kids get the input they need and stay calm in tense situations.  You can buy them from pretty much any store that carries autism products.  I get mine at the Autism Shop.

If you are a mother of a child who has been diagnosed with Fragile X, you are a Carrier (also referred to as a premutation).  Fragile X is a gene mutation on the X chromosome, and carriers pass it on to their children.

If you are a carrier and you are the mother, you have a 50% chance of passing it on to each of your children.  The gene may or may not change into the "full mutation," causing Fragile X Syndrome.  Even if she passes on the X with the gene mutation, it may not change.  Her children could also be carriers.

If you are the father, you will not pass the Fragile X gene mutation on to any of your sons, because you don't give them the X chromosome.  You will, however, give it to all your daughters.  When the gene passes from a father to a daughter, however, it does not change - the father's daughters will be Carriers of the gene.

D is for...

An early Diagnosis is key to getting the proper treatment and therapy started.  Many kids with Fragile X can grow into happy, productive, social adults if they get diagnosed early and receive therapy.

Developmental Delay is generally the first sign of Fragile X in babies.  Babies who are late with their developmental milestones should be tested for Fragile X.


E is for....

Emory University in Atlanta, Georgia is another location where lots of Fragile X research is performed.

As is similar with kids with Autism and other behavioral and sensory disorders, kids with Fragile X often have trouble making and maintaining Eye Contact. While in children with autism the lack of eye contact is due to the child not understanding that eye contact is a normal part of communication, with a Fragile X child, the lack of eye contact is more likely due to anxiety.  Don't force it.

People with Fragile X are often extremely Empathetic.  They hurt for their friends' and families' pain.  They are very sensitive to the emotions of others.


F is for...

Fragile X is a Family of disorders.  It doesn't affect the child, and stop there.  It snakes its way through a family tree, leaving its mark silently, here and there, until a family member is finaly diagnosed with it.  Family members can be diagnosed with Fragile X-associated Tremor Ataxia Syndrome, Fragile X-associated Primary Ovarian Insufficiency, or Fragile X Syndrome.

To have the Full Mutation means to have over 200 repeats of the CCG gene sequence.


G is for...

Understanding how Fragile X works requires a very basic grasp of Genetics.  Females have two X chromosomes, males have one X and one Y.  The Fragile X mutation is on the X chromosome.  Since a female has two Xes, she has a 50/50 chance of passing on the X with the gene mutation.  Since a male has just one X, he will pass it on to all his daughters and none of his sons.

A lot of parents of children with Fragile X (and autism) find that putting their children on a Gluten free and dairy free diet can help with many of the symptoms of Fragile X.  Sometimes Gluten can wreck havoc on a digestive system, and eliminating it from the diet can fix problems and help avoid or reduce medication needs.


H is for....

Another name you will hear frequently in discussions about Fragile X research and knowledge is Hagerman - namely, Paul and Randi Hagerman.  They are a husband and wife team, both doctors and researchers who are based at the MIND Institute who have dedicated their lives to the study of Fragile X and its affect on individuals and families.

The ability to Hyperextend the joints is another hallmark symptom of Fragile X.  Many parents will notice that their children with Fragile X are insanely flexible.  For example, AJ likes to sit and work on his iPad with his foot tucked underneath his armpit.


I is for...

Every two years the National Fragile X Foundation, along with FRAXA and a local Fragile X group hold an International Fragile X Conference, attended by medical professionals, researchers, teachers and other school personnel, therapists, and parents of children with Fragile X.  For four days, information and news about Fragile X is shared, new friendships are sparked, and unforgettable experiences abound.  Every parent of a child with Fragile X should attend a conference at least once, if they can.

One piece of technology that has changed the lives of people with almost all disabilities for the better is the iPad.  I don't think we have even discovered yet how much the iPad can benefit and simplify our lives.  Literally hundreds of thousands of apps have been developed to help people with autism and Fragile X live fruitful and happy lives.

No list of common Fragile X terms would be complete without including the acronym IEP.  The Individualized Education Plan spells out exactly what a child with special needs will be expected to learn in a specified period of time (generally one year).  It's important to make sure that your IEP includes specific measurements of learning and that your child is getting all the assistance he/she has a right to, under the law.


J is for...

Kids with Fragile X may have their problems and those problems may seem unpleasant, but there's no denying the utter Joy they can both feel and inspire.  Despite their challenges, they are generally happy, Joyful children with infectious giggles.

One way for kids with Fragile X to organize their systems and get their excess energy out is by Jumping.  A lot of the time, you'll find these kids to be very, very active.


K is for....

Getting a diagnosis like Fragile X throws a lot your way, all at once.  There's the immediate symptoms to get under control.  There's the therapy that must be started, right now, because early intervention is key.  There's educating yourself, your friends and family, and often the doctors and therapists about Fragile X and its associated disorders that may effect your whole family.  But above all else, it is important for you to Keep Calm.  Like the popular meme says to.


L is for...

While children with Fragile X definitely Learn differently, they definitely CAN learn.  My boys can read words by sight, but cannot sound them out by letter.  At eight years old Zack can read over 100 words by sight.  His IEP states he will learn 200 by this December.  AJ can read probably 500 words.  I'm constantly amazed at what he reads to me.  In some cases kids with Fragile X (and autism) can learn to count more easily by using a method called TouchMath.  It involves putting points on each number that can be counted.


M is for...

Most people with Fragile X are on some kind of Medication.  There is no cure for Fragile X but there are a wide variety of medications on the market that can help alleviate the symptoms and increase the person with Fragile X's quality of life.  And new mediations that show even more promise are being developed and tested all the time.

Someone with a diagnosis of Mosaic Fragile X has been found to have different numbers of CCG repeats in different cells in their bodies.  Some cells may carry over 200 repeats or the Full Mutation, while others carry between 50-200, or the Premutation.

People with children with Fragile X know all too well what happens when our kids have Meltdowns.  We may spend our days trying to organize and plan every aspect of our lives to keep meltdowns from happening, but we aren't as in control as we think we are.  Just when you think you've done everything right and nothing can go wrong, BAM!  There's your kid, laying on the floor at Target, screaming bloody murder because you stopped him from shredding the box of Honeycomb before you even paid for it.


N is for...

The National Fragile X Foundation - where to find out all about Fragile X. 


O is for...

A very common type of treatment for Fragile X is Occupational therapy.  Children with Fragile X often don't play with toys appropriately; that is, in such a way as to learn and gain developmental skills by playing with those toys.  Occupational therapy can help show those children how to play to most effectively gain skills.  OT also helps children learn everyday activities such as eating with utensils, brushing their teeth, and tying shoes.

A child with Fragile X who appears wild or aggressive or upset, or just covering his ears, is often suffering from Overstimulation.  The world around them can seem like a series or harsh attacks to their senses, and they struggle to cope but sometimes they can't take it all in and they become overstimulated.

P is for....

Most kids with FX seem to work really well with Picture Schedules.  Whether or not they become verbal, they are visual learners who will respond positively to a simple schedule posted somewhere in the house, with a few picture cards representing the activities of their day.

Female carriers are at risk for Fragile X Primary Ovarian Insufficiency, or FXPOI.  FXPOI is characterized by infertility and early menopause.  Find out more information about FXPOI here.

Q is for...

Questions.  A Fragile X diagnosis leads to years of questions both posed by, and posed to, the family with Fragile X.  Where did it come from?  What does it mean?  How is it going to affect us?  Most of your questions can be answered by a genetic counselor, a doctor, or experienced parents of children with Fragile X.


R is for....

Rush University is another location where an established Fragile X clinic sees hundreds of patients with Fragile X.  It is also one of several locations where exciting research studies are being performed.

A person's Fragile X status is determined by the number of Repeats of genetic code CCG on the X chromosome.  What is your repeat number?  How many repeats do you have?  While the number of repeats doesn't indicate the severity of the symptoms of Fragile X (in other words, higher repeats do not necessarily mean more severe symptoms), the number of repeats in someone with the premutation, or a carrier, can give some indication of the chances of their having children with the full mutation, and of their developing one of the Fragile X-associated disorders.


S is for....

Sensory Processing issues are often a huge part of Fragile X.  Sensory processing is defined as "the way the nervous system receives messages from the senses and turns them into appropriate motor and behavioral responses. Whether you are biting into a hamburger, riding a bicycle, or reading a book, your successful completion of the activity requires processing sensation or 'sensory integration.'"  (Definition taken from the SPD Foundation site.)  Often, if someone with Fragile X is expressing undesirable or mysterious behaviors, they are a direct indication of their sensory process being disorganized or inefficient.  Finding out exactly how their sensory process is working and then developing a "sensory diet" can help.


T is for....

Another Fragile X related condition is Fragile X-associated Tremor Ataxia Syndrome.  FXTAS causes balance, tremor, and memory problems in most commonly male, but occasionally female carriers of the Fragile X gene.  Find out more information about FXTAS here.


U is for....

It's estimated that Fragile X Syndrome is greatly Underdiagonosed among the autism community.  Current estimates show that 1 in 10 children diagnosed with autism has Fragile X syndrome, but experts suspect that number could be much higher if all children with autism were tested for Fragile X.

The Mecca of all things Fragile X Syndrome is at the U of CA Davis - the MIND Institute.  Another amazing place to visit, if you ever get the chance.


V is for....

One of the first things you start to fret over when your child is diagnosed with Fragile X is whether or not he will be Verbal.  A lot of kids with Fragile X start talking between ages 3 and 5, some not until later, but even if they never manage to utter a word, they can learn to communicate well with a picture schedule. 


W is for....

Being in Water is what helps my sons with sensory processing, more than anything else.  We take them swimming as much as possible.  They benefit from the resistance water provides, as well as just from cooling down.  The warmth and jets in a hot tub also calm my boys more than any medication ever has.

A Weighted blanket or vest can be a great help to a child with Fragile X who has sensory problems.  Feeling the extra weight helps them ground themselves and feel less impulsive.

X is for....

That pesky X-chromosome.  One little dangly piece of DNA and it messes up everything.  Of course, it also makes for the most loving, sensitive, sweet kids on earth.


Y is for... 

Our boys' absolute favorite website of all time is You Tube. They could watch videos of their favorite shows all day long.  One of their favorite Wiggles videos wasn't on You Tube, so I recorded it myself with the iPad and uploaded it to You Tube.  It now has well over 1000 views, and I am sure they all my sons'.

Z is for....

What a Zoo our life can be!  From Zooming between doctor visits, and Zipping through therapy appointments, we Zigzag through our Zany days with Zest and Zeal.

Whew!  That's a lot of Z words!  I had a lot of fun putting this list together, I hope you enjoyed it and learned something about Fragile X!

Good places to find out even more about Fragile X disorders:

www.fragilex.org

www.fraxa.org

 

Spreading the (Fragile X) word at an autism event

Last Saturday, a few of us from the Fragile X of Minnesota group manned a booth at an autism activities exhibit here in the south metro, to spread awareness about Fragile X and its connection to autism.

I've attended this event for the past several years but this is the first time we've had a Fragile X booth there. And this year wasn't as busy as I've seen it.  At no time was there ever anything you could call a "crowd."

But, we did get to talk to lots of people about Fragile X.  I had 25 copies of handouts of tips especially for educators working with children with Fragile X, and only came back home with two of them.  23 people who work with kids with special needs were interested enough in Fragile X to read up on it.  Others who'd never heard of it, now have.

 

Directly across from our booth was the booth for disability services for our county, and they came over to see our information, too.  They took a brochure and we chatted extensively.  Zack and AJ's preschool teacher and their current teacher are two of the organizers of this event.

My group of Minnesota moms and a dad and a grandma and a couple of sisters had a great time volunteering there, meeting people, passing on our vast knowledge, showing off our pictures.  When there wasn't anyone there to talk to about Fragile X, we chatted amongst ourselves.

We have such amazing moms, dads, sisters, brothers, grandparents, and friends of people with Fragile X in Minnesota.  Over and over, I'm touched and thrilled by their enthusiasm and their loving, giving hearts.

I'll tell you this.  Fragile X, as a whole, is devastating, but it has brought the most wonderful people into my life.  This picture is just a few of them.

This is Autism.

Go to the Autism Shines Facebook page and check out all the great pictures.  Someone started a photo meme to show all the positive and wonderful things autism is - and to show that autism is not violence.  It's so cute, and of course I had to get involved.  Here's the picture I submitted:

I got all excited and threw this together and ran right out and uploaded it immediately, without thinking through the fact that I should have mentioned Fragile X somewhere on there, even though it's not about Fragile X specifically.  So I deleted it and resubmitted it as this blog, instead of with my name.  Now Fragile X is attached to the photo.  Anyone who sees it will see that it was submitted by The Fragile X Files.

Mission accomplished.  Awareness opportunity taken.  Cute picture shared.  I can now get on with my day.

Awareness Here, There, Everywhere

A few weeks ago, I had an awareness opportunity I forgot to mention here. I was interviewed by www.speechbuddy.com, and it was my favorite kind of interview; they emailed me questions, and I took my time answering them. I could do those interviews all day, every day. I loved being able to take my time to come up with answers to questions.

Anyway the interview is here:

http://www.speechbuddy.com/blog/interview/an-interview-with-bonnie-korman-mom-of-two-special-needs-kids/

If the pictures look familiar, it's because they borrowed them from my blog.....

Fragile X in the (local) news

Here is the link to the news piece that our local ABC affiliate, KSTP did on Fragile X yesterday:

Zack and AJ's prime time debut

I thought they did a terrific job with the story!  It is sometimes surreal to hear about Fragile X in a huge public arena.  Fragile X is so personal to me that hearing it mentioned on the news is startling, even if I'm expecting it - like hearing my own name.  Which, incidentally, was also on the news!

The first conference I went to, or the first time I heard Dr. Berry Kravis or one of the Hagermanns talk about Fragile X in an online video, it was the same way.  It's like, hearing them say the words Fragile X, words that I usually only hear myself say, is so.... personal.  Like how can they know so much about something that is my world?

Because it's not just my world - and that's why it's weird to hear Fragile X referred to as "rare."  It's not rare, in my world.

And I kind of wish they could have avoided the word "rare," when describing it.  I think some people, when watching the news, hear that they are about to talk about something rare and they disregard it.   Maybe not consciously, but right away at least their subconscious is going to think rare -- equals -- not important.  Mentally, they think, I can just half pay attention here, or maybe not at all, because this is rare - doesn't pertain to me or my world and never will.

I wish he would have led with that comment he made at the end of the segment, about how 1/2 of all people with Fragile X also have autism.  Autism is a keyword that would have gotten attention right away in the broadcast.   Everybody knows autism is an epidemic.  Instead of saying you're about to talk about a rare disorder, say you're about to talk about a disorder closely related to autism.

Because as much as I want the whole world to know about Fragile X, I know that they have to have a reason to care.  Everybody is busy, and the news and social media constantly harass us with illnesses and causes and stories we should care about and support with our time and money.  We have to give people a reason to care about Fragile X, and I think tying it to autism is the key to that.  If they hear that it's rare, they might think - it's not epidemic - so it's not worth spending time on.  My cute kids alone are not going to make them think it is.  We are only human.  We only have so much time and attention to pay to things.

I don't know, what do I know? I"m not a reporter.

I am so glad we got to do that, though.   It felt wonderful to tell the whole state about Fragile X and the promising drug trials going on right now.  I only saw it once on the news last night, but friends tell me it aired later on the 10 o'clock news, and this morning again at 6.  I'm thrilled it got so much air time!

I know you don't get it - and that's okay

I do try to stay away from controversy and drama. I'm not interested in political conversation. I think most people come into controversial discussions with their minds already made up, and with the goal of changing everyone else over to their viewpoint. I don't like to get into those types of conversations because I do admit I might be wrong - and I don't like being the only one who gives in a little.

I will listen and attempt to understand the other side, as long as you do, too.

So I'm not sure how to explain how I got involved in a Facebook discussion about families who live with autism and how it's not like life with only neurotypical children who meet all their developmental milestones.

What happened was, someone made a comment that said showed clearly that he has no idea that there are different kinds of kids out there, and not all of them are just like his.

And I know this happens all over the world on a daily basis. Last week I listened to a speaker talk about believing in the potential of our children. Not special needs children - all children. And during the discussion, she pointed out how of course all children had the potential to grow up and drive cars, go to college, get married. Such a typical comment to be made by someone who has never know anything but typical children. When she said that, I avoided eye contact, and she lost a little credibility with me. I know she was talking about typical children. I know she understands how some children aren't like others.

It was just - when people do that - make generalizations that exclude people with disabilities - it's thoughtless. I know they don't mean any harm and it's nothing personal and I try to ignore it. But it makes me feel a little excluded. Like I'm not really a part of the crowd she's talking to.

We can't make everyone in the whole world understand HOW living with someone with Fragile X or autism is different. And I'm sure I've said things that came across as thoughtless and hurtful to people for various reasons. People whose personal situations I didn't know anything about.

On The View one morning last year, they were joking about how kids are always making demands on their moms. Whoopi Goldberg (who I love by the way) commented that her 30-year-old daughter still calls her and needs things.

And they all laughed and nodded, knowingly. Those darn kids that refuse to grow up! HaHaHa!

What if your kids really didn't grow up? What if your daughter stayed a cute, helpless, and demanding baby for all her life? What if she really did require the care a toddler requires, for the rest of your life, and well beyond the time you are able to provide that care?

What if you really did have a 30-year-old toddler?

How would you like them apples?

I have friends who bring their kids to the gym daycare in part so they can exercise, and partly just because it gives them a little time away from the kids. And that's perfectly understandable. I totally get why you need to get away from the constant demands and complaints kids have.

Well what if you were frustrated and tired of the constant and nonstop demands and complaints, but you couldn't just drop your kids off there? Even if you wanted to legitimately work out. Your kids can't stay at the gym daycare, because the gym daycare workers don't have the skills necessary to care for your child.

We used to belong to a gym. It had a baby/toddler room, and a preschooler/young-child room, and a bigger-kid/activity room. They don't have a bigger-kid-who-still-acts-like-a-baby/toddler room. My boys don't fit into any of the categories they have there.

I know that I could have asked them to come up with the staff to care for my sons, so I could leave them in the childcare and go work out. It just seemed like more effort than it was worth. I'd have had to train their staff, and even then I'd have spent the whole time I was exercising, worrying that they were okay. It's useless to tell me not to worry. I can't just turn it off. And it would have been stressful for the boys, too, which I would have paid for, for probably the rest of the day. It was just a hill I decided not to climb.

Interesting way to look at it, since we're talking about exercise.

I might have rambled and strayed from my original point here. I think it might be this: is it reasonable to expect this world to make room for my kids, and for people not to make comments and generalizations that so obviously exclude people with disabilities? Should I be speaking up every time someone says something that makes me feel left out of the group? Should I have worked harder to find a place for my boys at the gym daycare?

The problem with speaking up is, it's hard. It's embarrassing. I might cry. I'll make other people uncomfortable.

I know I probably SHOULD speak up. I SHOULD train the gym staff how to deal with kids who don't act like other kids. I should be making this world more understanding and accepting and aware of people with disabilities, every time I get the opportunity. I just wish I could get through it without so much emotion.

My Favorite Moments from the Minnesota Fragile X Picnic

Our second picnic went so well! I really feel like we are getting a cohesive group together in Minnesota. It's very exciting to see people come together and feel such a close bond, almost right away. And there's so many more of us than I thought, back when the twins were first diagnosed. I think I went a year after our diagnosis, before I saw another child with Fragile X.

It doesn't feel as rare, anymore. When I meet new people and have to explain the boys, I tend to say they have "Fragile X Syndrome?" I say it in a questioning tone, because I expect that the person I'm telling won't have heard of it. Well, I decided this weekend, I'm not going to do that anymore. I'm going to say "They have Fragile X," matter of fact, as if it were as common as autism and I expect everyone to be aware of it. We aren't as few and far between as we used to be.

Mother Nature decided to grace us with a gorgeous day on Saturday. We couldn't have hoped for more.

Here are some of my favorite moments from this year's picnic:

• When Mary discovered her son Dan was featured in the NFXF Annual Report - the Annual Report that probably went out to hundreds of people, and she had no idea they featured a little paragraph and photo of her son.


• When Tammy, mother of four children with Fragile X, met Sue, mother of two sons with Fragile X, and realized that Sue was the very first person she talked to, fifteen years ago, when Tammy's first son was diagnosed with Fragile X.
• Introducing Desirae Rambeck, from the Minnesota Fragile X Clinic, to the group and then seeing everyone have a chance to talk to her personally.
• The huge laugh we had when I tried to talk Tammy into borrowing a book, and she absolutely refused because the last time she borrowed a book from someone, her son ate a page out of it.


• When a bunch of the kids were fascinated, predictably, by the water spout.

• When AJ started waving the bubble wand around in the air to make bubbles, deliberately, for the first time in his life.

I love this group.  I went home exhausted but thrilled that it had gone so well.

56 Degrees

It's been a long, hot summer.  We barely held on.



But we made it - the humidity has broken.  It's 56 degrees this morning, and guess who is completely calm and not biting, at all?

Zack.

I spent all summer thinking, is it really the heat?  Or could it be something else?  Some allergy?  Some vitamin deficiency?  A fabric sensitivity?  I don't think so.  The relief Zack feels when the humidity and heat dissolve is obvious.

(And Zack's calm demeanor this morning is the reason I have time to sit at the computer and type this up!)
I have tried brushing Zack a lot - a couple of hot, humid weeks ago Zack's occupational therapist at Courage Center suggested that maybe he needed more brushing.  So I had been doing it every day, several times a day, up until yesterday when Zack abruptly grabbed the brush out of my hand and threw it across the living room.

I'm trying to love all this time with the kids, but like every summer before this one, by August, we've done it all. All the summertime fun-ness has been had. Every park looks just like the one we were at last week. Swimming is still fun, but we are done with it in less time than it took to pull swimsuits on.

Aliza comes running every time the mailman comes down our street. Any day now, the letter revealing the name of her teacher will arrive.  It's almost that time.

One thing that blows these summer doldrums right out of the water, though, is the love and kindness of neighbors.

Our neighborhood has always had a party for National Night Out, now known as Night to Unite.  This year, though, the lady who coordinates it couldn't do it, and no one stepped up to take her place.  A lot of the kids were sorely disappointed, my own daughter included.

So a couple of moms decided to throw a party next week, a belated Night to Unite.  We are gathering in a neighbor's driveway, and they are going to sell root beer floats for $1, and the flyer says they will donate the proceeds to the National Fragile X Foundation.

I'm always surprised at how touched I am by things like this.  Unexpected gifts.

Our boys aren't out and about the neighborhood much.  I try to get them out, but they don't mix well with other kids.  It takes a lot of effort to get them to even be in the same driveway as their peers.  Especially when it's 100 degrees and humid, and Zack would just as soon sit down and bite the skin off his legs.

At least he's only biting himself.

Anyway, part of what's so nice about this is the fact that I'm always wondering just how much our neighborhood knows about Zack and AJ, and their disability.  It's hard to be out, but if we aren't out, we can't expect anyone to know or understand them.  I always tried to bring them out to the Night to Unite party, at least for a short while.  I missed being able to do that this year.

Evidently, they understand much better than I thought they might.

Awareness Day

Tomorrow is National Fragile X Awareness Day. It'll be all over Facebook and Twitter.

Well, it'll be all over MY Facebook and Twitter.

You know, I'm trying to be a strong advocate and promoter of awareness. I'm also reviewing a lot lately how I felt and what life was like when we first got the diagnosis, and sadness is catching. I'm writing about it, and it's making me feel it all over again.

Side note - I'm excited to buy the book January First when it comes out next month - the book by Michael Schofield about his daughter with schizophrenia. His blog is excellent, I'm sure his book will be even moreso.

Anyway I remember him saying that when he was doing rewrites and revisions of the part of his book where he talks about the day they had to call the police because his daughter was having a psychotic episode at school, it was painful for him because every time he had to revise it, it was like living through it again.

I'm still sad that the boys have Fragile X. Or maybe, because I'm writing about the discovery of it, I'm sad again.

I wish we didn't have to have an awareness day.

But the only thing worse than having Fragile X in our lives would be having it in our lives, and dealing with it all alone because no one knew or cared.

I know people care.

Next week, around 1000 family members and professionals will converge in Miami, for the International Fragile X Conference. No place or time will contain more awareness.  My dad and I are headed down there to meet people and hear from researchers and professionals, to learn what we can about everything up and coming that has anything to do with Fragile X.

Maybe it'll help me get my head back into the here and now and back to focusing on the future.  I've had about enough of reliving the past.

This Great Idea I Have for a Class to Teach Acceptance

The antibullying movement is so strong lately.  And that is a great thing.  I am happy kids are being taught that mistreating each other won't be tolerated.

But I have an idea how to reduce the tendency for kids to pick on each other in the first place.



There ought to be a mandatory class for elementary students.  Something called Awareness and Acceptance.  Something to teach them to accept people that are different from them, in any way.  Something to show them how to interact and behave humanely.  To teach empathy.


I guess it would fall under the category of sociology or communication.  That, and maybe health.

And the special needs kids all need to be in that class.  Sitting right next to the typical kids.

No, not just next to them.  Interspersed through them.  No kid with special needs should be sitting next to another kid with special needs.

And maybe once a week, there's a seating rotation.  Something to ensure that everyone sits next to everyone else, at some point during the length of the class.

And it needs to be a whole semester long.  Not just a special all-school rally, one afternoon, in the gymnasium.  These kids need to be forced together in a classroom every single day for a whole semester so they really get to experience each other on a personal level.

Sort of like Partners in Policymaking is teaching me to be more aware and accepting.  Because it's not necessarily my fault I don't know how to talk to the woman in the wheelchair with such several cerebral palsy that she constantly makes odd body movements and is almost impossible to understand when she talks.  I've just never in my whole life been in such close proximity to people with those kind of disabilities.  At least not regularly, and often enough to get used to them.

I mean, I'm going to forgive myself for my uneasiness.  I think it's only natural to be uneasy around the unfamiliar.  But I'm working on it.  Every time I see her, I'm a little more comfortable with her.

It makes me wonder how different I'd be, if I'd grown up personally knowing some people with disabilities like her.

Which leads me to wonder how different our whole world would be, if everyone did.

Me Being Political - PIP

I started Partners in Policymaking this weekend.  Every state but Vermont does a PIP class and it started right here in Minnesota, 25 years ago.

It's a government program that trains us to fight for government policies for people with disabilities.  In other words, the government is teaching me how to fight the government.  How awesome is that?

Classes are once a month on a Friday and Saturday, for this whole school year, ending with a big graduation in May.  In March our class will go to the capitol for Disability Day, which I did this past spring, but I felt like a fish who'd flopped out of my little glass bowl.  Maybe going with my PIP class this coming year will make it less awkward.

Anyway, Friday, the very first day, the first thing they did was shock us into realizing how badly people are needed to work to promote legislation for people with disabilities.

You know how when there's a story on the news about a child or a person with a disability being abused or injured or killed, and you tend to turn away or turn it off altogether, because it is just too disturbing and you'd rather not hear it?  Imagine if you had to sit through story after story after story for several hours.  My stomach turned over about six times.

There was a detailed and lengthy account of how people with disabilities have been treated and viewed throughout history.   Horrifying stories of torture, abuse, neglect, exploitation, misunderstanding, and disrespect.  Nearly every example from history was followed by a recent news story showing us how the very same types of treatment and abuse and misunderstanding occur today.

So we were all emotionally smacked upside the head.

Suffice it to say, it wasn't light entertainment.

It's going to be grueling.  But I have a sneaking suspicion this may turn out to be the most valuable schooling I've ever gotten.

And summer rolls on

Did I ever mention that we are attempting to get a local Fragile X support group going?

I've been working on a website and a logo.

The Southern Minnesota Fragile X Support Group (although I already want to change that name.  It's too long and doesn't abbreviate well.  Plus, why are we blowing off northern Minnesota?) more or less started gathering steam last spring.  We have monthly coffee meetings and a few local Fragile X families have popped up and shown interest in working with a local group.

(I am thinking about Fragile X Association of Minnesota or Minnesota Fragile X Association.  That's a format a lot of state groups use.  I don't want to actually use the word "syndrome" because we want to include the other associated disorders, FXTAS and FXPOI.)

And next month we'll have a picnic where we can meet and get to know each other.  A few years ago another attempt was made to get a local group going, but it sputtered out after awhile, as I think the leader had trouble getting people to get involved.

I guess I'm going to have to be pushy.  **smile**

Anyway, if you happen to live locally and you don't know about the Southern Minnesota Fragile X Support Group (See what I'm saying?  It takes like a full minute to type all that out.), please email me or comment here and I'll hook you up. Ditto if you know someone who lives in Minnesota and is affected by Fragile X Syndrome, or any of the associated disorders.

In other news, today is the boys' last day of summer school.  Boo.  So much for my little one hour blocks of free time.  Aliza and I went out for breakfast this morning after they left.  A quick breakfast, because we also had to get groceries.  In an hour.

Tomorrow we go on a tour of the Historic State Theatre, where we'll be going to see The Wiggles.  They were so nice when I explained that my boys just need to walk around a little and calmly see the place, before they deal with the anxiety of the live show.  Which is coming up next week already!

Fun at the Park

Nice rabbit ears.  I don't think we've got our annual Christmas photo quite yet.

Getting up on my soapbox. That sound you heard is my knees cracking.

Tomorrow (Friday, July 22) is Fragile X Awareness Day.

Do you know 130 women?  (Okay, you don't have to know them all really well....but I bet if you counted everyone you've met in the past, say, 2 years, plus everyone you used to know in college, and in past jobs, and in high school, and through other friends.....you could probably come up with 130 women, right?)

Which one do you think is a carrier of the Fragile X gene?

That's the latest estimate of how many women in the general population are carriers.

I know.  To a young woman who has yet to have children, it's not that impressive a number.  It wouldn't have meant that much to me, before I had kids and knew I was a carrier.  There are much bigger, much more common things to worry about when you are considering having babies, right?

Like Down Syndrome (1 in 365, for a 35 year old woman)
Or Cystic Fibrosis (1 in 3,000 Caucasian babies per year)
Or Duchenne muscular dystrophy (1 in 3,500 boys)
Or neural tube defects (including spina bifida) (1 in 1,000)

The incidence of Fragile X Syndrome is 1 in 3,600 to 4,000 boys and 1 in 4,000 to 6,000 girls.  Those numbers might not be impressive compared to the numbers for some of those listed above - unless you happen to be that 1 among 130 women.  Her chances are 1 in 2.  (Plus, the carrier gene can cause infertility.)

Now that's some crappy odds.  But it's better to know, than not to know.  Knowledge is power.  (Somebody famous and smart once said that.)

Autism rates have exploded.  That makes it so much more important to test for Fragile X, because they are so similar, and it's thought that Fragile X is often misdiagnosed as autism.

If you have a child with autism, please take a minute to review the symptoms of Fragile X and consider testing your child for it.  Knowledge is power.  If you know exactly what causes your child's autism, you can work with that!

And if you happen to already know that Fragile X is in your family tree somewhere and you aren't sure whether you could be a carrier, take the time to find out.  Don't wait until it just shows up in your kids, your grandkids, or your great grandkids, because as my friend at Basically FX said here.... it'll rip your heart out.

Please also take a couple seconds to "attend" the National Fragile X Awareness Day event on Facebook. The event is located HERE.  It's easy and costs nothing and you don't have to get dressed up and leave the comfort of your laptop to attend.

Here's where I got this information, in case you want to read up on it some more.
http://pregnancy.about.com/cs/downsyndrome/l/bldownssyn.htm
http://www.wrongdiagnosis.com/c/cf/basics.htm
http://kidshealth.org/parent/medical/bones/muscular_dystrophy.html#
http://www.sharecare.com/question/rate-incidence-neural-tube-defects
http://www.fragilex.org/pdf/PrevalenceWhitePaperAdaptedforFQ.pdf

Political Me

I"m not really the political type.  I always vote and try to pay attention to issues, but I've never really been able to get into it.

Yesterday was "Disability Matters Day" at the Minnesota state capital in St. Paul, and I thought I'd see what it was all about.  I registered through ARC Twin Cities, and Mark took the day off work to wrangle the kids.  I was very excited to to get all polished up and go spend my day with people who polished themselves up.  I got a new pair of cute, but completely sensible shoes for the occasion.

Then the night before, I started to feel a little weird about going by myself.  Which is odd in itself because I go places by myself all the time.  But this was really going to be a "fish out of water" experience.  I hadn't been to the capital since 6th grade.

So I drove up to the capital in the morning, and after a little scrambling to find quarters to pay for a parking meter, I grabbed my bag, including my Kindle in case there was some down time, and headed up the capital steps.

Outside the marble rotunda, everywhere there were people in wheelchairs and with crutches and canes.  People who were obviously mentally handicapped, following other people around.  Many, many people with Down's Syndrome.  I thought about what my boys would be like there.  I thought about the screaming, whining, biting my hand, and trying to bolt for the door.  I pictured the Cookie Crisp and Froot Loops all over the capital rotunda floor.  I figured it wasn't likely were many autistic kids there.

The first legislative briefing was already underway, but they were going to be repeating it in a half hour, so I figured I'd wait till then to go in and find myself a seat.  As I stood there right outside the rotunda trying to decide what to do while I waited, suddenly behind me I heard a very familiar, sweet little voice singing:

"Come on, vamonos!  Everybody, let's go!  Come on let's get to it.  I know that we can do it!"

I turned around and there was a little boy sitting on a bench with his mom, watching Dora the Explorer on a Smartphone, or something.

"Where do we need to go?  Bridge..........jungle...........pyramid!"

I think I even know what episode they were watching.  Yes, that little Dora, she follows me wherever I go.

And I thought, maybe there is one autistic kid here today.

So I went to the legislative briefing, and the rally after that.  I clapped when everyone else clapped, held up a sign that said "INDEPENDENCE COSTS LESS" that someone handed me when I registered, and cheered and whooped when everyone else did.

ARC had emailed a template for writing up a "family story" to give to your legislator, to briefly summarize your family's disability situation.  So even though I didn't meet with her, I did leave a copy of "The Korman Family Story," complete with an adorable photo of the boys, at Pam Mhyra's office.  A couple of the workers at the registration desk wanted copies too, so I felt good that I got some word out about our family.

But I'm still not feeling it -- whatever it is that drives people to be political.  To shout at rallys and sign petitions and promote their agendas.  Maybe I'm lucky.  Maybe I don't feel it because I've never had to fight for my rights.  But I think I'll go to these things occasionally to make sure things stay in my favor.

Or maybe next year, I'll have Mark attend Disability Matters Day.  He's always had a bit of a political bug in him...

Fragile X Awareness

Our neighborhood has a great event every year for National Night Out.  We gather in the cul-de-sac  in the middle of our street and everyone brings a dish to pass.  We bring our lawn chairs and sit down and eat dinner together, chatting with old neighbors and meeting new ones.  Kids ride bikes and scooters and draw with sidewalk chalk.  It's a good time and I appreciate seeing all the neighbors I might not have run into during the year.  Especially since my daughter probably sees them much more often than I do.

This year, sometime during the afternoon before the event, it dawned on me that this was a great opportunity for creating a little Fragile X awareness.  The boys aren't outside as much as other kids their age, since I can't just let them run around like other 5 year olds might.  I try to take them for walks and to the neighbors houses to visit whenever we have the chance, both for their social benefit and so people can see them and get to know them.  But they just aren't as visible as most of the kids on our street.

I created a simple, two-sided card, made about 20 copies, and put them out on the table with the sign-up sheet, the fire prevention brochures, the if-your-child-should-get-lost information, and the police department magnets.

I think a couple of people took them, but a lot of them were left on the table at the end of the event.  Connie, the wonderful neighbor who arranges the whole thing, said she'd keep them and put them out again next year.   I guess if just one or two people who didn't know what Fragile X was before took them, it was worth it.