Fighting Myself…and Losing

“increased shyness and social anxiety have been reported in some women with the (fragile x) premutation” Franke, P., Leboyer, M., Hardt, J., Sohne, E., Weiffenbach, O., & Biancalana, V., et al. (1999). Neuropsychological profiles of FMR-1 premutation and full mutation carrier females. Psychiatry Research, 87, 223-231.

This is my hell.  I’m locked within myself.  A piece of me will be reaching out while the rest of me is holding me in and down. No one understands.  I know I’m disappointing the ones I love.  But the force keeping me away is too strong to fight. And even though I know this, I still fight it.  Then I get sick.  Sometimes it is a simple cold or an upset tummy.  But lately it has resulted in a migraine.

Where is all this coming from?  My latest disappointment in myself and to my family that occurred yesterday. We had a family reunion.  (I just heard a collective groan from all you carriers out there.)  I had no clear cut plans.  No specific time.  No idea of what was going on or what was expected of me.  In my mind, I would know very little outside of my mom and my aunts. It was in a place that I wasn’t sure where to find and haven’t been to since my early, early childhood.

The effects started Friday.  I had tried to contact my mom to find out specs on this thing.  I was told by my young cousin that they were heading out to eat.  I won’t lie.  I freaked out!  I had children wanting to make plans.  I had exes wanting their kids.  So I did what I thought best and decided to battle the 1 instead of the 3.  I sent my kids with their other family and let Austin go to his friends.  And then I stressed.  And I worried.  I do both so well, I must say.  I do it so well that I managed to give myself a handy dandy migraine.

Saturday morning rolled around.  I forced myself out of bed around 8:30 so I could get showered.  I had to take Lauren to work and get Matthew a tooth fairy gift.  I still hadn’t heard from my mother and the pain started to settle behind my left eye. Typical, so very typical.

My mother called later to finally give me some insight on this reunion.  She was really stressed and I just couldn’t tell her that there was no way I could do this.  Especially knowing that she wouldn’t understand.  So I played along and kicked myself with every word that seeped from my lips.  Kevin got off of work at noon and by this time my migraine was in full swing.  I tried another one of the meds that the doc had given my to try out.  It didn’t work for the pain but it knocked me out most of the afternoon.

I know Lauren wanted to go.  She is such a social person.  I envy her that.  I’m glad she can be.  Kevin was following my lead.  He is such a good husband.  He tries to understand the inner workings of my crazy, defected mind.  My mother never called and I feel horrible that I bailed on her.

Today, my head is still pounding but nothing like yesterday.  My entire Labor Day weekend has been shot.  And I have no one to blame by myself.

School Registration SUCKED!

OMG!  Have you ever had to register your child for school and then come home and de-spazz??  I did yesterday.  It was a nightmare.  I’ve been doing this for years and yesterday was the worst ever!

First of all they had registration for all the schools (5 total) in one building at one school.  The VP from the high school told me that the first day of registration it was taking a parent with 1 child up to 3 hours to get registered.  And that was for a returning student.  Could you imagine if it was a new student!?  Well, it wasn’t that long for me but it was that stressful.

They did registration in stations.  Each child had a checklist that had to be signed off before the parent could go to the next station.  Sounds good.  That is doable.  The first station is filling out the basic form.  The next station was the nurses desk to make sure shots and stuff were up to date.  But the third station was the kicker.  The parents were supposed to get on a computer and make sure that all of the information in the computer was correct.  If it wasn’t it had to be fixed.  When it was all done it needed to be printed out to the appropriate school station.  Stressed yet?  Well, I wasn’t.  I’m a computer pro.  I can do just about anything and I can usually finagle my way around any computer program.  Plus there was directions on the tower of how to do it.  Easy peasy!  Um, NO!!  Total freaking nightmare.  Massively confusing program. And I had to do it for 4 kids!!  I felt horrible for those parents that aren’t computer literate.

The station after computer hell was the food programs.  Okay, great.  Well, because my kids are currently not on free/reduced lunches they wouldn’t give me an application.  But for some reason felt free to check for fines for my kids so before I could rip her throat out for discriminatory behavior, I got pushed to the Charges station because Lauren had a fine.  A big one!  She had been charged $63 for a math book she apparently never turned in (but swears she did and I believe her), and $5 for dry cleaning a choir robe.  I couldn’t continue on until I forked over that money.  Rachel had to run out to my van and get my checkbook.  That was a long wait.  Registration was in a round building and she got lost.

So after I cut the check for money that was meant to be Lauren’s school clothes I hit each individual school station.  Luckily, this year I have to contend with only 3 schools.  I started with Rachel’s first.  No problems at all.  They know what they are doing and do it well.  I love them.  Up next was the middle school.  Still doing pretty good.  The only hitch we had was that the computer system that generates schedules messed up Matty’s.  They put him in art…that is just funny.  And because he is in the same SPED class all day it wouldn’t let it repeat that over and over for different periods.  I wasn’t too worried though.  My team and I basically put his schedule together as we see fit anyway.  Easy fix

And thank goodness I saved the high school table for last.  My cousin used to be the registrar at the high school.  She was awesome.  She totally knew what she was doing.  This is the first year without her and it shows!! Austin’s schedule wasn’t too bad.  He got the electives he wanted and his teachers all look great.  But Lauren’s needs completely reconstructed.  COMPLETELY!!  She is supposed to be done with high school in December.  Well, they have her signed up for spring classes.  She has morning classes at the college and it is supposed to actually be in the afternoon.  They gave her electives, which she doesn’t need, didn’t sign up for, and can’t have.  I was fuming.  She is fuming.  But she called one of the people who work in the office who helped her construct her schedule last year and they will work on fixing it today.  Thank goodness!!  Holy cow man.

So I survived the school stations…barely.  Transportation was next.  Long lines, Rachel left me to go camping, and overstressed, too many people, fx carrier anxieties kicked in and um it was near meltdown for me!!  And nothing really happened there.  He put down their bus #’s but it was useless to stand there.  I have to call him next week to have him rework a different system because they changed school times and we have to finagle more stuff because of our jobs, the sped bus, etc.  Ugh.  I may just have to be late to work and they will have to suck it up and deal.

The next station was EPO.  I liked this station.  They know what they are doing…lol.  They just checked when the kids’ IEP’s were ready.  Matty is due in September and Rachel is due next spring.  Since I was already aware this didn’t faze me.  I like it when I’m prepared…lol.

And finally I got to go to the check out station.  Hallelujah!!  BUT….there always has to be a but…I still needed to sign up the kids for the after school program.  But it was so late in the day they had all went home .  So I need to go back.  I don’t know how, or when, but I have to.  Fudge nuts.  Fiddle sticks.  Son of a biscuit eater.  Ugh.  I’ll email her and maybe, just maybe, she can drop a form off on my door.  She is good like that.  I <3 her too.

As I broke off from the registration experience from hell I had to call Kevin.  He told me to chill and despazz.  That is easier said that done.  I got home and realized that that place had been HOT!!!  I don’t think their a/c’s were working.  So I hopped in the shower.  I managed to be there for like 30 minutes.  And of course, Lauren got home and had to share her woes.  I told her to hush cuz I was despazzing.  She obeyed.  I hit Facebook when I got out cuz that always makes me smile at least a little.  And when Kevin got home he brought me a beer and I ordered pizza.  By bedtime I was fully despazzed.  So now today will begin the reparative stage.  I need to work on fixing all of the screw ups from all of the schools.  Lot’s of emails could be going out today.  I may have to make a few calls…which I just love to do…NOT!!  And hopefully I won’t have to leave and go fix anything because I just can’t.  We’ll see.

If you made it this far, and haven’t stroked out, God bless you.

She Won!

Little Miss Rachel actually won something and she is hopping crazy happy.  While her father took her school shopping (omg did those words actually go in that sentence…lol) he entered her in a drawing at Dillards.  There were three different ones and Rachel won one of them.  She got to pick out a free pair of jeans for school!  She is quite stoked about her fancy schmancy pants.

The lovely store fiasco…

Thursday night just was not my night to decide to go to Walmart and get our household stuff.  I had to take Matthew with me because I went after work.  I usually go early Saturday morning but Kevin and I both had family coming from out of state so I wasn’t sure when I was going to be able to go.  And we were out of so much stuff.

Well, I only got through half of what was on my list because our cart was full.  Okay, fine then.  I would come back the next available time that I had.  Matty wasn’t real impressed with that idea.  I mean, come on, we passed up the waffle aisle!  But he dealt with it.

Check out went smoothly, or so I thought.  It was leaving that was not so smooth because of check out.  I had bought two bags of dog food and a bag of cat food.  I had them laying on the bottom of the cart.  I had peeled off the sticker with the bar code from the dog food and told her to run it twice.  Well, she didn’t.  Because I had stuff on that bottom shelf the Walmart greeter checked my receipt.  She saw that there was only one bag of dog food…and she told me she had to call security.  Impressed, I was not!!

Matty is already upset that we were stopped by now we had been pulled aside.  So he was pacing around the cart. 

I was fighting with this old hag about the dog food.  She asked me what checkout I had used.  I’m not sure why she asked because after I told her she just said that she would just have to call security.  She was treating me like I was trying to steal the dog food.  I told her that I had no problem taking the food off of my cart. 

Matty was now pacing, humming, and biting his hand. 

She was like, “Well, I guess that would be ok.  But you need to put it away yourself.”

Of course, my response, “Are you serious?!”  At this point I wanted her to call security.  But Matthew has stopped pacing.

She told me then that she was not allowed to leave her post but there was a cart sitting by a cashier that I could put the dog food.

I did it as fast as I could because by then there was a very unpleasant scent in the air.  He had gotten so upset he had an accident.

The second we were out of Walmart, Matty started in with, “What the heck!? She stole dog food, Mom! What the heck!”

I got him home, showered and changed.  By then he was pretty well over it.  But never in my life has anyone or anything upset Matty so much he had an accident in public.  Never.  I’m not happy at all.  And of course, I didn’t get the greeters name.  But next time, if there is a next time, I will have a name, a manager, and security.

FXTAS

I was going to write about something else for Fragile X Friday but I think it will save it for this weekend.  Instead, I’m going to talk about something that is weighing in on me and it hasn’t really before: FXTAS.  FXTAS commonly occurs in the grandfathers of the boy children who have fragile x syndrome.  Well, that is how it started anyway.  That is what triggered Dr. Hagerman to look into it a lot closer.  Now we know that it’s not really gender specific.  Women get it too.

Carriers of premutation (CGG) expansions of the fragile X gene are generally thought to be spared most of the problems associated with the full mutation; however, a newly identified neurological disorder, involving progressively <!– –> severe tremor and difficulty with walking and balance, appears to specifically affect some older premutation carriers, generally grandfathers of children with fragile X syndrome. Although this neurological disorder occurs by a completely separate mechanism from fragile X syndrome—and affects different individuals, it is caused by the same gene, and therefore opens a new portal for understanding how the fragile X gene works. from http://www.fragilex.org/html/fxtas.htm.

As Matthew gets older I can’t help but think about his future.  Who will he live with?  How long will Kevin and I be able to take care of him?  What if when the time comes Lauren or Rachel can’t or won’t take him in and care for him.  And niggling in the back of my conscious is, “What if I get FXTAS?”

Kevin is hell bent on dying before me.  Not that he wants to.  But he assumes he will.  His family history is littered with cancer, heart disease and diabetes.  And he smokes.  The poor guy has tried to quit but his addiction is so strong.  He has tried patches, gums, pills, cold turkey, prescriptions, etc.  It never does the job.  It sounds funny to say that he needs rehab but seriously…he needs rehab.

So suddenly my biggest fear is not only who will take care of Matthew but who will take care of me.  I lived in orphanages and group homes and I can tell you right now that I ever get put in a home I would freak out!!!

FXTAS Symptoms

FXTAS usually develops between the ages of 50-80. Symptoms that family members may notice, but often attribute to aging, include:

* “Intention” tremors — shaking that often occurs when reaching for or pouring something
* Balance problems (ataxia) that cause falling or instability while walking
* Numbness in the extremities (neuropathy)
* Mood instability, irritability, and other changes in personality
* Short-term memory loss and gradual intellectual decline

Short-term memory loss and gradual intellectual decline. How scary is that?  I watch my great-grandma die of Alzheimer’s.  Towards the end she thought she was the little German girl she was in her childhood.  She couldn’t care for herself at all.  One minute I remember her cooking like crazy in her kitchen and the next she was in a room playing with dolls and speaking in a language I couldn’t understand.

There are many carrier mom’s out there who are not only taking care of their fragile x children but they are also taking care of their FXTAS parent.  Stress doesn’t even begin to cover it.  I don’t want to put that on my children.  No parent does.  So all I can do is hope for a cure, like so many other people out there who is struggling with this.

Fragile X Awareness Day PSA

The last thing I want to share today is this PSA.  I hope those of you who aren’t immersed in fragile x syndrome learned something today.  My dream is that if someone is affected by fragile x syndrome, the response won’t need to be, “Fragile What?”

more about “Fragile X Awareness Day PSA“, posted with vodpod

How Did Fragile X Find Me

Usually, the first question that I hear after, “Fragile What?”, is “How did you find out?”  Our story is a unique one.  Mainly because we live in a small area in a state with crummy medical people and we found out abnormally early in Matthews life.  The age that most families learn that their child has fragile x syndrome is age 3 or older. 

I was a 19 year old, single mom, loving life with my new baby in 1996.  I read all the books and devoured magazines on how to get babies through the stages of development.  Matthew didn’t respond to any of my attempts.  At 6 months old he still didn’t roll over.  My family physician gave me the brush off, “Boys tend to develop slower than girls. He’ll get it.”  At his 8 month checkup he still hadn’t gotten it.  And in essence our doctor fired us.  He had no clue how to go about looking for an answer.  He seemed so healthy except for this delay.  As parting gifts he sent us to a early intervention clinic and a pediatrician.

Our pediatrician was pretty clueless too.  But he was more than happy to do what it took to find an answer.  He told us that he would call one of his doctor buddies in the big city and get with me on what tests he wanted to run.  The phone rang shortly after I got home.  He had already set us up with an MRI, vision test, hearing test and chromosome test.  A few weeks later, when Matthew was 9 months old, we learned that he had fragile x syndrome.  It was Valentine’s Day, 1997.  (The chromosome test is highly discouraged now as a means of fragile x testing.  It is not very accurate and usually misses it…we got lucky.  In 1991 a DNA test, the FMR-1 gene test, was introduced. This is the most accurate test (99+%) for detecting Fragile X.)

My son is not the only one in my family to have it.  I was not aware of it when I was pregnant with my son and neither were they.  After I learned about Matthew my Aunt Bonnie had her son tested.  They learned his disability was not in fact due to her having Rh- blood but fragile x.  As time went we traced it all the way back to my paternal great-grandfather Watson.  He had given it to all of his daughters and of course none of his sons.  He had 7 kids, I think.  Four of them were girls.  Three of those girls passed it down to some, if not all, of their children.  My grandma was in that all stage.  She had two boys.  My father is a carrier; and though not tested, we are quite sure my uncle has the full mutation. 

And this is usually how it works.  A severely affected child will emerge and years of passing this gene can come to light.  With the latest confirmed numbers being 1 in 260 women being carriers, it can happen to anyone.  No one is excluded from fragile x syndrome.