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.
- 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
- No one has heard of it.
- 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
- He does things daily to amaze us. Never assume he “can’t.” He can, he does, he will.
- 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
- 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.
- Individuals with 60-200 CGG repeats have a premutation which means they carry an unstable mutation which can expand in future generations.4
- 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.
- 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
- 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.
- 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
- This is the most exhausting part…the team of experts, the endless rounds of therapy and the (OMG!) IEP meetings.
- Medical intervention including medications can be helpful for aggression, anxiety, hyperactivity and poor attention span.7
- 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.
- 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
- 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.
- 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
- 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.
- 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
- 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.
- 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
- 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.
- 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.
- 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.
- Don’t tell me you’re sorry. I’m not.
- http://www.fragilex.org/html/summary.htm [↩]
- http://www.fragilex.org/html/summary.htm [↩]
- http://www.fragilex.org/html/behavior.htm [↩]
- http://www.fragilex.org/html/summary.htm [↩]
- http://www.fragilex.org/html/summary.htm [↩]
- http://www.fragilex.org/html/summary.htm [↩]
- http://www.fragilex.org/html/summary.htm [↩]
- http://www.fragilex.org/html/pharmacotherapy.htm [↩]
- http://www.fragilex.org/html/summary.htm [↩]
- http://www.fragilex.org/html/planning.htm [↩]
- http://www.fragilex.org/html/behavior.htm [↩]
- http://www.fragilex.org/html/behavior.htm [↩]
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Great and informative post
So well said. We’re at the beginning of our fragile x journey and this blog is a great resource.
Indeed. This was great. Very well written. Thanks for sharing.
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.
Thanks you guys! I’m glad I finally decided to publish it…I almost deleted it, lol.
[...] to all the new folks who’ve stopped by recently. What you’re looking for, though, is here. Hopefully, no damage [...]
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! =-.
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
ooops, ‘king’ was meant to be ‘kind’!
Lol, me again, no.25 should be in great big huge letters
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.
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…
This is one of the best things I have ever read!
Gracious! I’m blushing. Thank you all so much for the kind words!