Monday, July 22, 2013

The ABCs of Fragile X

Happy Fragile X Awareness Day!

A little while ago, for no particular reason, I wondered whether I could come up with Fragile X terms, symptoms, and concepts for each of the letters of the alphabet.  I started it and slowly came up with a good list, but there were still a few letters that stumped me, so I asked the Fragile X Facebook group to help.  That wonderful group of people came through, and together we compiled this terrific list!

Learning about Fragile X Syndrome is as easy as ABC!

A is for ...

Anxiety is a hallmark symptom of Fragile X Syndrome, whether you have the full mutation or the premutation.  Anxiety, unfortunately, often commands and controls FXers lives.

Aggression is another very common symptom that can stem from anxiety and overstimulation.  When children with Fragile X don't know what to do with the intense world that seems to be coming at them from all angles, they may defend themselves in a way that appears aggressive to others.  They don't mean to be.  They are just freaking out.

Autism is a dual diagnosis that at least 1/3 of people with Fragile X also have.  There are currently very few known causes of autism, and Fragile X is the most common genetic one.

B is for...

Dr. Berry-Kravis is a name you will start hearing, once you start following the Fragile X Facebook and email groups and attending conferences and webinars and reading articles about research.  She is a pediatric neurologist at Rush University in their Fragile X Clinic and one of a few dedicated Fragile X doctors, researchers, and heroes.

Boys are most affected by Fragile X.  Girls can have it too, but they usually aren't as affected.  Often girls can lead a mostly normal life, even with a full mutation.

Brushing is a calming method many FXers respond to positively.  An occupational therapist can show you the correct technique.

C is for...

80% of boys with Fragile X have some Cognitive disability.  It's unfortunately the most common and most debilitating characteristic of Fragile X.

We live for and go through a lot of Chewys in our house.  Chewys are little pieces of rubber, often shaped like letters, especially made for kids with autism and other sensory disorders to chew on. They help kids get the input they need and stay calm in tense situations.  You can buy them from pretty much any store that carries autism products.  I get mine at the Autism Shop.

If you are a mother of a child who has been diagnosed with Fragile X, you are a Carrier (also referred to as a premutation).  Fragile X is a gene mutation on the X chromosome, and carriers pass it on to their children.

If you are a carrier and you are the mother, you have a 50% chance of passing it on to each of your children.  The gene may or may not change into the "full mutation," causing Fragile X Syndrome.  Even if she passes on the X with the gene mutation, it may not change.  Her children could also be carriers.

If you are the father, you will not pass the Fragile X gene mutation on to any of your sons, because you don't give them the X chromosome.  You will, however, give it to all your daughters.  When the gene passes from a father to a daughter, however, it does not change - the father's daughters will be Carriers of the gene.

D is for...

An early Diagnosis is key to getting the proper treatment and therapy started.  Many kids with Fragile X can grow into happy, productive, social adults if they get diagnosed early and receive therapy.

Developmental Delay is generally the first sign of Fragile X in babies.  Babies who are late with their developmental milestones should be tested for Fragile X.

E is for....

Emory University in Atlanta, Georgia is another location where lots of Fragile X research is performed.

As is similar with kids with Autism and other behavioral and sensory disorders, kids with Fragile X often have trouble making and maintaining Eye Contact. While in children with autism the lack of eye contact is due to the child not understanding that eye contact is a normal part of communication, with a Fragile X child, the lack of eye contact is more likely due to anxiety.  Don't force it.

People with Fragile X are often extremely Empathetic.  They hurt for their friends' and families' pain.  They are very sensitive to the emotions of others.

F is for...

Fragile X is a Family of disorders.  It doesn't affect the child, and stop there.  It snakes its way through a family tree, leaving its mark silently, here and there, until a family member is finaly diagnosed with it.  Family members can be diagnosed with Fragile X-associated Tremor Ataxia Syndrome, Fragile X-associated Primary Ovarian Insufficiency, or Fragile X Syndrome.

To have the Full Mutation means to have over 200 repeats of the CCG gene sequence.

G is for...

Understanding how Fragile X works requires a very basic grasp of Genetics.  Females have two X chromosomes, males have one X and one Y.  The Fragile X mutation is on the X chromosome.  Since a female has two Xes, she has a 50/50 chance of passing on the X with the gene mutation.  Since a male has just one X, he will pass it on to all his daughters and none of his sons.

A lot of parents of children with Fragile X (and autism) find that putting their children on a Gluten free and dairy free diet can help with many of the symptoms of Fragile X.  Sometimes Gluten can wreck havoc on a digestive system, and eliminating it from the diet can fix problems and help avoid or reduce medication needs.

H is for....

Another name you will hear frequently in discussions about Fragile X research and knowledge is Hagerman - namely, Paul and Randi Hagerman.  They are a husband and wife team, both doctors and researchers who are based at the MIND Institute who have dedicated their lives to the study of Fragile X and its affect on individuals and families.

The ability to Hyperextend the joints is another hallmark symptom of Fragile X.  Many parents will notice that their children with Fragile X are insanely flexible.  For example, AJ likes to sit and work on his iPad with his foot tucked underneath his armpit.

I is for...

Every two years the National Fragile X Foundation, along with FRAXA and a local Fragile X group hold an International Fragile X Conference, attended by medical professionals, researchers, teachers and other school personnel, therapists, and parents of children with Fragile X.  For four days, information and news about Fragile X is shared, new friendships are sparked, and unforgettable experiences abound.  Every parent of a child with Fragile X should attend a conference at least once, if they can.

One piece of technology that has changed the lives of people with almost all disabilities for the better is the iPad.  I don't think we have even discovered yet how much the iPad can benefit and simplify our lives.  Literally hundreds of thousands of apps have been developed to help people with autism and Fragile X live fruitful and happy lives.

No list of common Fragile X terms would be complete without including the acronym IEP.  The Individualized Education Plan spells out exactly what a child with special needs will be expected to learn in a specified period of time (generally one year).  It's important to make sure that your IEP includes specific measurements of learning and that your child is getting all the assistance he/she has a right to, under the law.

J is for...

Kids with Fragile X may have their problems and those problems may seem unpleasant, but there's no denying the utter Joy they can both feel and inspire.  Despite their challenges, they are generally happy, Joyful children with infectious giggles.

One way for kids with Fragile X to organize their systems and get their excess energy out is by Jumping.  A lot of the time, you'll find these kids to be very, very active.

K is for....

Getting a diagnosis like Fragile X throws a lot your way, all at once.  There's the immediate symptoms to get under control.  There's the therapy that must be started, right now, because early intervention is key.  There's educating yourself, your friends and family, and often the doctors and therapists about Fragile X and its associated disorders that may effect your whole family.  But above all else, it is important for you to Keep Calm.  Like the popular meme says to.

L is for...

While children with Fragile X definitely Learn differently, they definitely CAN learn.  My boys can read words by sight, but cannot sound them out by letter.  At eight years old Zack can read over 100 words by sight.  His IEP states he will learn 200 by this December.  AJ can read probably 500 words.  I'm constantly amazed at what he reads to me.  In some cases kids with Fragile X (and autism) can learn to count more easily by using a method called TouchMath.  It involves putting points on each number that can be counted.

M is for...

Most people with Fragile X are on some kind of Medication.  There is no cure for Fragile X but there are a wide variety of medications on the market that can help alleviate the symptoms and increase the person with Fragile X's quality of life.  And new mediations that show even more promise are being developed and tested all the time.

Someone with a diagnosis of Mosaic Fragile X has been found to have different numbers of CCG repeats in different cells in their bodies.  Some cells may carry over 200 repeats or the Full Mutation, while others carry between 50-200, or the Premutation.

People with children with Fragile X know all too well what happens when our kids have Meltdowns.  We may spend our days trying to organize and plan every aspect of our lives to keep meltdowns from happening, but we aren't as in control as we think we are.  Just when you think you've done everything right and nothing can go wrong, BAM!  There's your kid, laying on the floor at Target, screaming bloody murder because you stopped him from shredding the box of Honeycomb before you even paid for it.

N is for...

The National Fragile X Foundation - where to find out all about Fragile X. 

O is for...

A very common type of treatment for Fragile X is Occupational therapy.  Children with Fragile X often don't play with toys appropriately; that is, in such a way as to learn and gain developmental skills by playing with those toys.  Occupational therapy can help show those children how to play to most effectively gain skills.  OT also helps children learn everyday activities such as eating with utensils, brushing their teeth, and tying shoes.

A child with Fragile X who appears wild or aggressive or upset, or just covering his ears, is often suffering from Overstimulation.  The world around them can seem like a series or harsh attacks to their senses, and they struggle to cope but sometimes they can't take it all in and they become overstimulated.

P is for....

Most kids with FX seem to work really well with Picture Schedules.  Whether or not they become verbal, they are visual learners who will respond positively to a simple schedule posted somewhere in the house, with a few picture cards representing the activities of their day.

Female carriers are at risk for Fragile X Primary Ovarian Insufficiency, or FXPOI.  FXPOI is characterized by infertility and early menopause.  Find out more information about FXPOI here.

Q is for...

Questions.  A Fragile X diagnosis leads to years of questions both posed by, and posed to, the family with Fragile X.  Where did it come from?  What does it mean?  How is it going to affect us?  Most of your questions can be answered by a genetic counselor, a doctor, or experienced parents of children with Fragile X.

R is for....

Rush University is another location where an established Fragile X clinic sees hundreds of patients with Fragile X.  It is also one of several locations where exciting research studies are being performed.

A person's Fragile X status is determined by the number of Repeats of genetic code CCG on the X chromosome.  What is your repeat number?  How many repeats do you have?  While the number of repeats doesn't indicate the severity of the symptoms of Fragile X (in other words, higher repeats do not necessarily mean more severe symptoms), the number of repeats in someone with the premutation, or a carrier, can give some indication of the chances of their having children with the full mutation, and of their developing one of the Fragile X-associated disorders.

S is for....

Sensory Processing issues are often a huge part of Fragile X.  Sensory processing is defined as "the way the nervous system receives messages from the senses and turns them into appropriate motor and behavioral responses. Whether you are biting into a hamburger, riding a bicycle, or reading a book, your successful completion of the activity requires processing sensation or 'sensory integration.'"  (Definition taken from the SPD Foundation site.)  Often, if someone with Fragile X is expressing undesirable or mysterious behaviors, they are a direct indication of their sensory process being disorganized or inefficient.  Finding out exactly how their sensory process is working and then developing a "sensory diet" can help.

T is for....

Another Fragile X related condition is Fragile X-associated Tremor Ataxia Syndrome.  FXTAS causes balance, tremor, and memory problems in most commonly male, but occasionally female carriers of the Fragile X gene.  Find out more information about FXTAS here.

U is for....

It's estimated that Fragile X Syndrome is greatly Underdiagonosed among the autism community.  Current estimates show that 1 in 10 children diagnosed with autism has Fragile X syndrome, but experts suspect that number could be much higher if all children with autism were tested for Fragile X.

The Mecca of all things Fragile X Syndrome is at the U of CA Davis - the MIND Institute.  Another amazing place to visit, if you ever get the chance.

V is for....

One of the first things you start to fret over when your child is diagnosed with Fragile X is whether or not he will be Verbal.  A lot of kids with Fragile X start talking between ages 3 and 5, some not until later, but even if they never manage to utter a word, they can learn to communicate well with a picture schedule. 

W is for....

Being in Water is what helps my sons with sensory processing, more than anything else.  We take them swimming as much as possible.  They benefit from the resistance water provides, as well as just from cooling down.  The warmth and jets in a hot tub also calm my boys more than any medication ever has.

A Weighted blanket or vest can be a great help to a child with Fragile X who has sensory problems.  Feeling the extra weight helps them ground themselves and feel less impulsive.

X is for....

That pesky X-chromosome.  One little dangly piece of DNA and it messes up everything.  Of course, it also makes for the most loving, sensitive, sweet kids on earth.

Y is for... 

Our boys' absolute favorite website of all time is You Tube. They could watch videos of their favorite shows all day long.  One of their favorite Wiggles videos wasn't on You Tube, so I recorded it myself with the iPad and uploaded it to You Tube.  It now has well over 1000 views, and I am sure they all my sons'.

Z is for....

What a Zoo our life can be!  From Zooming between doctor visits, and Zipping through therapy appointments, we Zigzag through our Zany days with Zest and Zeal.

Whew!  That's a lot of Z words!  I had a lot of fun putting this list together, I hope you enjoyed it and learned something about Fragile X!

Good places to find out even more about Fragile X disorders:


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