Month: January 2010

25 Things about life with Fragile X

Melissa

My twist on that once ubiquitous “25 Things” meme on Facebook.  This has been in draft form for a while. Obviously.  Sometimes it takes me a while to sort things out in my head.  We’re nearly 4 years into our journey and I’m still figuring out how I feel.

  1. Fragile X syndrome is the most common inherited cause of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. ((http://www.fragilex.org/html/summary.htm))
  2. No one has heard of it.
  3. The majority of males with fragile X syndrome will have a significant intellectual disability. The spectrum ranges from learning disabilities to severe mental retardation and autism. ((http://www.fragilex.org/html/summary.htm))
  4. He does things daily to amaze us.  Never assume he “can’t.”  He can, he does, he will.
  5. Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli. ((http://www.fragilex.org/html/behavior.htm))
  6. I hate that people pass judgment on my son and on me for things he cannot control.  He looks, and sometimes is, out of control but that is his biology.  He isn’t a brat.  I’m not a bad mother.  I won’t hide him because it makes you uncomfortable.
  7. Individuals with 60-200 CGG repeats have a premutation which means they carry an unstable mutation which can expand in future generations. ((http://www.fragilex.org/html/summary.htm))
  8. I never knew anything was unusual with my genes until my son was tested.  When you are pregnant and have genetic testing, this isn’t one of the tests OBs typically order.  I was tested for Cystic Fibrosis, nothing else.  Ask for it.
  9. Individuals with over 200 repeats have a full mutation which causes fragile X syndrome. The full mutation causes the gene to shut down or methylate a region of the FMR -1 gene. When the gene is turned off, the individual does not make fragile X mental retardation protein (FMRP). ((http://www.fragilex.org/html/summary.htm))
  10. People want to know what Fragile X Syndrome is but their eyes glaze over when I try to explain it.  I wish it were easier to explain.  I try to take the science out of it as much as possible which is hard to do.
  11. At this time, there is no cure for fragile X syndrome. However, special education, speech and language therapy, occupational therapy and behaivoral therapies are helpful in addressing many of the behavioral, and cognitive issues in fragile X syndrome. ((http://www.fragilex.org/html/summary.htm))
  12. This is the most exhausting part…the team of experts, the endless rounds of therapy and the (OMG!) IEP meetings.
  13. Medical intervention including medications can be helpful for aggression, anxiety, hyperactivity and poor attention span. ((http://www.fragilex.org/html/summary.htm))
  14. Take one second to think about having to put your 3 or 4 year old on…Carbamazepine (Tegretol), Valproic Acid, Divalproex (Depakote), Lithium Carbonate, Gabapentin (Neurontin), Lamotrigine (Lamictal), Topiramate (Topamax), Tiagabine (Gabitril), Vigabatrin (Sabril), Phenobarbital and Primidone (Mysoline), Phenytoin (Dilantin), Methylphenidate (Ritalin), Dextroamphetamine (Dexedrine; Adderall), Concerta, L-acetylcarnitine, Venlafaxine (Effexor) and Nefazodone (Serzone), Amantadine (Symmetrel), Buproprion (Wellbutrin), Desipramine, Imipramine, Buspirone (Buspar), Clonidine (Catapres), Guanfacine (Tenex), Folic Acid, Fluoxetine (Prozac),  Sertraline (Zoloft) and Citalopram (Celexa), Risperidone (Risperidal), Olanzepine (Zyprexa), Quetiapine (Seroquel), Trazodone and/or Melatonin. ((http://www.fragilex.org/html/pharmacotherapy.htm)) And there are more being studied.
  15. Because the impact of fragile X is so varied, it is important to do a careful evaluation of the individuals’ abilities and difficulties to tailor a treatment plan to address specific needs. ((http://www.fragilex.org/html/summary.htm))
  16. That seems like a throw-away, right?  Basically, even the experts don’t know how any of those drugs or therapies will work for my son.  We have to experiment on him.  It’s stressful making these decisions for another human, especially one you would die for.  And, for added fun, many people judge (harshly) those who use medication(s).  They think it’s taking the “easy” way out.  There is no easy way out in our world.
  17. While the impact of fragile X syndrome on an individual is significant, it does not necessarily shorten the life of the person. As a result, it is important to make long-term plans to provide for the financial, employment and community living needs of persons with fragile X syndrome. ((http://www.fragilex.org/html/planning.htm))
  18. My family is long-lived, we need to find a way to make sure he’s cared for, loved and valued for the rest of his long life.  He will have no siblings.  This is the scary part.
  19. Anxiety in both boys and girls manifests itself in various ways. Some persons with fragile X become very worried about changes in routine or upcoming stressful events (e.g., fire drills, assemblies).   Tantrums may be a result of anxiety and a feeling of being overwhelmed. Crowds and new situations may cause boys to whine, cry, or misbehave, in attempts to get out of the overwhelming settings. ((http://www.fragilex.org/html/behavior.htm))
  20. Fragile X doesn’t rule our lives.  We go out to eat, we go to the library, we go to the beach, we go grocery shopping just like every other family.  Sometimes it goes well, sometimes it doesn’t but we keep going.  We have to, always hoping that one day he can do it…on his own.
  21. Many of the behavior problems of both boys and girls with fragile X syndrome overlap with the pragmatic (conversational) difficulties they have in language. The poor eye contact and difficulty sustaining a conversation cause many social weaknesses.  ((http://www.fragilex.org/html/behavior.htm))
  22. Fragile X doesn’t make him any less loving or lovable. He is sweet and caring.  He wants to talk to you and laugh with you and he can’t always do it but keep trying, one day he will and it’s worth the effort.
  23. Receptive vocabulary may be a strength for younger boys with fragile X syndrome, although the subtleties of multiple meaning and abstract words may cause more weaknesses as boys grow older. Expressive vocabulary is often weaker than receptive, such that boys can understand more words than they use.
  24. He understands what you are saying.  He may not be able to repeat it (now) but he understands.  Don’t be scared to ask questions, he knows he has Fragile X, but be respectful.
  25. Don’t tell me you’re sorry.  I’m not.

Tearful mornings.

Melissa

Monkey boy had another bad sleeping night.  He was awake at 12:30 and stayed that way until nearly 4.  Duhdee woke him up for school this morning and the second he turned his back Monkey came racing to our bed and crawled under the covers with me and pull the duvet up over his face.  Poor kid was in tears.  I just hate this.  It’s so hard for me to give him a pep talk on mornings like this because I want to cry too when we’re this tired. *sigh*

He had a very tearful, weepy transition…I hope he can pull out of it and have a good day at school, he often does.  Life can be so hard for him in general, I hate that he has to power through this extra misery on top of it 🙁

So, about that Dr. visit on Friday.

Melissa

The start of each new year brings changes.  Lately those changes have been related to my health insurance.  Two years ago my employer got a great deal on a crappy plan and they jumped at it.  One year ago my employer got a less great deal on that same crappy plan minus a few little bits and pieces and increased co-pays.  This year my employer got the same less great deal on a really pretty good plan, actually.  There was one minor hitch, of course.

There is now a $3,000 deductible.  THREE THOUSAND DOLLARS need to come out of our pocket as a family, before my health insurance, which I’m already paying MANY THOUSANDS OF DOLLARS for this year, will pick up a penny for anything beyond an annual physical and the associated routine lab tests.  THREE THOUSAND DOLLARS before they will pay for any prescriptions, any therapy, any sick visits, any diagnostic tests at those sick visits, etc.

Clearly, I’m a happy camper.

We’ve had this visit scheduled since last October.  It is the follow-up visit to discuss the potential ADHD diagnosis and the ongoing sleep issue, you know the one where he DOESN’T SLEEP, the one which is going drive me insane if we cannot get it under control…*deep breath in**deep breath out*….so we kinda, sorta, desperately need this visit out of pocket or not.  It’s a 45 minute appointment.   And it’s going to cost us…

Anyone want to guess?

Read more →

That IEP meeting last week.

Melissa

I’ve been chewing over the information that was shared at the IEP meeting last week and trying to make some decisions.  Trying to pick a direction to move…it’s not easy being the grown-up sometimes (heh, please overlook the fact that I do not always exactly act “grown-up” and tend to throw hissy fits that put my 5 year old to shame…just for now.  ‘K, thanks.)

Two years ago we went to the same sort of meeting and we heard such amazingly, wonderful things about our special little nugget…only for everything to go straight to hell 3 months later.  It was a mixture of me hearing what I wanted and the teacher … really, I still don’t know what her motivation was.  But, hey, I’m being a grown-up today so…bygones. 

What I’m getting at is that, since that meeting, I’ve tried very hard to hear what the teacher and therapists are telling me…even when I am having to read between the lines at times.  So, please understand that the following is what I am fairly sure I heard at the meeting…but maybe I missed something between the lines…it happens.  Which is why people should just say what they mean and not try to dress up what we all know is a less than ideal situation…oops, was that preachy?  (and also hypocritical because we all know “less than ideal” is not exactly what I mean…sorry.)

So.  What I heard…

  1. He has met his OT goal of holding a pen in the proper tripod position for more than 5 minutes at a time.
  2. He has met his OT goal of cutting a straight line using “regular” scissors and has moved on to cutting out shapes (circles in particular, he has done this successfully one time but it was a very LARGE circle and not quite what they’re going for…babysteps.)

    3. Both of these are very important because it demonstrates that he is gaining significant strength in his hands (those loose FX ligaments are most troublesome in his fingers.)

  3. He has met his PT goal of throwing and catching a ball for whatever distance they’d set.  He’s now working on dribbling. 
  4. He has met his PT goal of moving through multi-step obstacle courses with support.  He’s working on doing it independently.
  5. His tumbling and jumping are better, he is now working on assisted sit-ups.

    6. His PT has also noted that his upper body strength has increase significantly.  He needs to be strong in his trunk before he can really focus on working his fingers as well as he should.

  6. He is able to sit at a table and work on an activity for more than 5 minutes, with support.  They’re now working on increasing his independence.
  7. He is able to sit at a table and work on a preferred activity for … well …forever pretty much.
  8. He follows the classroom routine with minimal support.  They’re now working on increasing his independence.
  9. His assistive tech device…VantageLite…is in process though there are some interesting issues regarding funding.  We’ll get it worked out but we may be needing our advocate to make a call or two.
  10. He loves his peers and will do things for or with another child that he will not do for or with a therapist.

Areas he needs to work on…

  1. Moving beyond a one step social interaction.  He will take a toy or give a toy but he won’t continue the play routine beyond that.  He will initiate a conversation with a classmate by greeting them or commenting on something the classmate is doing but won’t continue the conversation beyond that.
  2. Independence.  He still needs an adult to keep him on task.  He is, by their own estimation, cognitively and physically capable of performing all the classroom tasks but his mind wanders.  Especially if it’s a harder task.  He’d rather watch the other kids work than work on something that tires him physically or mentally.
  3. Eating.  He can and does eat…a lot.  But he needs to be reminded constantly to use a utensil, use a napkin, don’t overstuff.  This is a biggy because of the social ramifications of not being able to eat in a group in a socially acceptable way.  Kids notice.  Older kids will comment. 

We have finally gotten the go ahead to start Therapeutic Listening with him.  The TL Therapist and Monkey’s OT will introduce it in the classroom and pick a goal to work on.  If it works for him we’ll expand it to home and we’ll buy him his own equipment.  We may end up buying the equipment ANYWAY if they can’t locate it within the district.  It’s been almost a year since we asked about this…I’d like to get going!

We also asked about ADHD since we’ll be visiting the developmental pediatrician this week to continue the discussion from last fall.  They can’t tell if he “can’t” focus or “won’t.”  Which is fine, that’s the Dr’s job 🙂  Now hopefully he’ll have a magical answer for that and the sleep b/c OMG, the lack of sleep makes me crazy.  And I don’t need anymore crazy, thank you very much, am full up with it already.

I am so MEAN!

Melissa

The beautiful (but ouchy) Christmas tree got the old heave-ho today.  All of the Christmas decorations are now boxed up and stashed in the basement for another year.  I love, love, love Christmas but it still feels really nice to have everything put away.

Since the tree has vacated the corner of the dining room where Duhdee’s desk used to reside we were now free to rearrange the dining room as we had planned.  Monkey was not impressed.  He was, at times, hanging off my waist yelling “Umma!  Ummai! Umma! Help! Help!” in an effort to distract me.  When that didn’t work he tried a few half-hearted screams but after a couple of those looks from Umma! Umma! Ummai! he gave up and just glared at us.

After 15 minutes we were finished.  Monkey’s bookcase was moved into the corner along with his bean bag chair which created a very cozy little book nook.  I thought he was going to continue his protest, that is the way these things go usually go around here, but as soon as I settled into the bean bag chair he grabbed a book and sat on my lap to read with a big grin on his face.  I think maybe I’m forgiven.

A question for the more experienced IEP moms and dads.

Melissa

If it is noted that a child can learn the material and can perform the tasks but isn’t always motivated to perform said task through to completion…that’s not a, not sure how to put this…it’s not a comment on the child and the appropriateness of the goal or placement but an indication that the teachers/therapists need to come up with new ways to motivate the child, is that right?

A public service announcement.

Melissa

I’ve noticed that a lot of people in the last few days are finding the blog by searching “what does 2 to 3 inches of snow look like?”

I’m thinking this may be a lot of my southern neighbors who are looking at just such a weather forecast.  Please rest assured that this is not what 2 to 3 inches of snow looks like!  That was 18 inches so there is no need for you to panic. 

Of course, the forecast that day was for 2 to 3 inches…so maybe go buy some snacks and such just in case 🙂  Don’t forget the hot chocolate!