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.

  1. http://www.fragilex.org/html/summary.htm []
  2. http://www.fragilex.org/html/summary.htm []
  3. http://www.fragilex.org/html/behavior.htm []
  4. http://www.fragilex.org/html/summary.htm []
  5. http://www.fragilex.org/html/summary.htm []
  6. http://www.fragilex.org/html/summary.htm []
  7. http://www.fragilex.org/html/summary.htm []
  8. http://www.fragilex.org/html/pharmacotherapy.htm []
  9. http://www.fragilex.org/html/summary.htm []
  10. http://www.fragilex.org/html/planning.htm []
  11. http://www.fragilex.org/html/behavior.htm []
  12. http://www.fragilex.org/html/behavior.htm []

28 thoughts on “25 Things about life with Fragile X

  • January 14, 2010 at 11:45 pm
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    So well said. We’re at the beginning of our fragile x journey and this blog is a great resource.

    Reply
  • January 15, 2010 at 12:13 am
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    Indeed. This was great. Very well written. Thanks for sharing.

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  • January 15, 2010 at 9:27 am
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    Yes Monkey is a pleasure and he is so inspiring to watch and be with. It is an honor to have him (and his parents) in our family. We notice the challenges, but with his responses comes utter delight and love. Just watching him grow and mature is a great experience and we learn as he learns and grows. Love that young man with all of our hearts.

    Reply
  • January 15, 2010 at 4:00 pm
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    Thanks you guys! I’m glad I finally decided to publish it…I almost deleted it, lol.

    Reply
  • Pingback: Did you know? | Basically FX | Living with Fragile X Syndrome

  • March 10, 2010 at 12:57 am
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    Seeing this a little late since it was linked to the more recent post about life with fragile x. This is a great one – thanks for publishing it!
    .-= Sarah´s last blog ..Look Who’s in a Big Boy Bed! =-.

    Reply
  • October 19, 2010 at 6:15 am
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    I can relate to the drugs intervention, although our history is different. When my eldest was diagnosed with FXS we had already spent months on a restrictive diet as our peadiatrician specialised in dietary intervention in children with ADHD and Autism (this was our initial diagnosis before blood tests proved otherwise). If we hadn’t seen such a dramatic change in his behaviour and nappies (diapers to you) we wouldn’t have believed it. He went from being a child who would completely trash a room in 30 seconds and filled at least 13 nappies a day with what I can only describe as a disgusting mess to filling it 3 or 4 times a day and being able to be in a room without wrecking everything in sight, this happened over a period of about a month.
    I was terrified of giving my precious little man drugs of any king but especially ones which had not been proven to be safe in the long term, it caused no end of arguements but in the end it was decided that he would stay on his diet and the only drugs he would take were anti-fungals which aided the effects of his diet.
    That was 13 years ago and when his brother came along showing the same symptoms 2 years later we were sent for blood tests which found the FXS, although this was a surprise to the Dr as he’d never tried the diet in FX children, we stayed with it as it had proven itself to be helpful.
    Both boys are still, gluten free, Dairy/cassein free and anti-fungal and although it was tough to start with it is now part of our lives. We still have no other intervention with drugs which is sometimes hard but we have to admit that both boys have very big personalities!!!
    I’m thankful that we had the oppurtunity to try the diet and that we haven’t used medication but totally understand why others do.
    Fear of the long term unkown kept us from trying that route and although sometimes I think it would be easier, the fear still grips me so we plod along as we are.
    This is a great site, wish I’d seen it sooner as there can never be too many places like this that make parents feel they aren’t on their own, great job :o)

    Reply
    • November 27, 2012 at 4:45 pm
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      Can you contact me to discuss the diet? My 4 year old has been on it for 8 weeks, was diagnosed with Autism and we just found out he has FXS. Wondering if we should take him off the GFCF diet, but we also feel we have noticed marked improvements these past 8 weeks. Wondering how you made out with sticking to the diet.

      Reply
  • October 19, 2010 at 6:17 am
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    ooops, ‘king’ was meant to be ‘kind’!

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  • October 19, 2010 at 6:20 am
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    Lol, me again, no.25 should be in great big huge letters 🙂

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  • January 10, 2011 at 7:31 am
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    Fantastic article – I love the phrase “Never assume he “can’t.” He can, he does, he will.” However small or long in coming the progressions are, when they do arrive they always make me proud of my son.

    Reply
  • March 18, 2011 at 3:09 pm
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    Wonderful blog post. I especially was touched by #25 Don’t tell me you’re sorry. I am not. How true. I don’t like when people tell me that “I am an angel.” No, I am just trying to be the best mother that my children deserve. I’ll move mountains for them….raising children with disablities does not make me an angel…it makes me a better mother. I wish I could do more for my kids. Thanks for your post…

    Reply
    • May 8, 2017 at 11:36 am
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      Reply
  • March 18, 2011 at 9:18 pm
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    This is one of the best things I have ever read!

    Reply
  • March 18, 2011 at 9:33 pm
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    Gracious! I’m blushing. Thank you all so much for the kind words!

    Reply
  • June 17, 2013 at 7:46 am
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    My relatives every time say that I am wasting my time here
    at net, but I know I am getting familiarity daily by reading thes pleasant content.
    valium´s last blog post ..valium

    Reply
  • December 14, 2013 at 3:02 am
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    Melissa, I found your blog as I have been researching Fragile X for a course I am taking. Thanks so much for your honesty and realness. Your recent blog about the fellow who stepped down from the Autism Speaks organization struck me because I have thought about the same thing – do people with special needs know they are truly precious, or do they just know they are “special”? How do they perceive themselves based on how they are treated? What do they tell themselves about themselves when they hear what we say, watch what we do, and read about the condition they have? What do I need to change so they know they are truly loved and valued for just being them? Thanks for sharing your experiences and your thoughts. Please keep on.

    Reply
  • April 23, 2014 at 3:50 am
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    I am a nursing student doing research on digital resources for a topic of my choice. I naturally chose Fragile X because it too runs in my family. My sister, mom, and I are all carriers and my nephew lives with it like a champ. I just wanted to say thank you for your website! I love your humor, down to earth style, honesty, and most of all education. I am hooked and will be checking back even after I have completed my assignment. Thank you for everything you do for the Fragile X community! 🙂

    Reply
    • April 23, 2014 at 2:53 pm
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      Thank you so much Amber! Good luck in your research!

      Reply
  • June 18, 2014 at 5:36 am
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    Hi there Melissa,
    I know your post is over 4 yrs old but still so relevant in our FX world. My son Alex is 20 now and life has gotten slightly calmer , it is true the aggressive behaviour does reduce when they get older, but life is still tough. Alex is at the severer end of FX with very little speech, but so much understanding, but he brings us so much laughter and joy as well as worry and anguish. Life is bittersweet but we wouldn’t change Alex for the world. I hope life is treating you well on rocky Fragile X road xx
    Paula´s last blog post ..Goldilocks and the Three Bags

    Reply
    • June 20, 2014 at 10:50 am
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      Thank you, Paula. Life gets easier in some ways and harder in others, doesn’t it? It won’t ever be boring though I do wish we could have a little bit of “boring” in our lives!

      Reply
  • November 1, 2016 at 9:12 pm
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    Right on Target you just summarize my 2 Fragile x young men their Receptive language is excellent, but of course Expressive Language is difficult, I don’t hide my FX boys, as a matter of fact I just travel with the youngest to France and Portugal, he was just like any other human being with his special gifts.

    Reply
  • December 4, 2016 at 7:57 am
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    hi, my name is Telo and im from sweden.
    i have triple-X-Sydrom (XXXY) and ADD,,
    i’ve had a tough life because of it, at the age of 11 i was sent to (children-prison) thats what i call it… i was sent there because i had problems within the school, problem with learning and so on..
    If they would have done a bloodsample i would never been sent to such a (prison), i didnt do any crime, i was born this way..
    i have more aggressiveness than others and are more emotional than others,…
    If ur parents or doctors “see” the sydrome they usally gives the person testosteron as a medication,, i didnt get any medication at all,,
    im now 34y old at the age of 27y old i knew abt fxs and could relate to it,,.
    now my question is: can i sue the gouverment because they didnt do shiit when i was sent to (children prison) when i was 11y old and no one took even a bloodsample,, if they would have taken a bloodsample before they sent me away i would never had this kinda life i’ve had…. if u understand,,.?
    i’ve had such a fckedup life because of this, no treatment what so ever no nothin,, u understand?….

    Reply
  • January 19, 2017 at 4:35 pm
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    Diagnosed when I was 30 years old in 1985

    Reply
  • April 15, 2017 at 2:31 am
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    Hi, my son is almost 28 years old. He was diagnosed when he was 3 1/2. I had no idea what was going on with him. My cousin told me about it since her 2 children have it. It’s a genetic gene that her father and my father and a cousin who passed it down to us. At first we had to learn about it and go from there. As the years have gone by, we learned more and more about it. We both did what we could do to find a school for him. He has grown into a wonderful son and we all love him so much. He has a very sweet and gentle personality.

    Reply
  • October 12, 2017 at 12:38 pm
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    My brother has fragile X and lives a great life with few ill-effects. He is very stubborn, but that could just be a received family trait. Stay well, friends!

    Reply

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