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25 Things about life with Fragile X

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.1
  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.2
  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.3
  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.4
  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).5
  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.6
  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.7
  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.8 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.9
  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.10
  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.11
  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. 12
  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.

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