Rubber, Lead or Crystal

Many years ago, when my life was getting stressful and I felt I had too many things to juggle, my sister taught me about rubber, lead and crystal balls.  Some things are like rubber balls. If you drop them, they bounce back and you can take care of them another time. Other things are lead.  When lead balls drop, they stay down. They were not necessary to begin with.  The last are crystal. These are the important items, ones you need to deal with. When crystal drops, it breaks.  The hard part is the recognition. 

Deal with the rubber tomorrow, don't worry about the lead, and take care of the crystal. 

This was good advice and I used it often. 

Now add the X factor to the equation.  The rubber balls are things I thought I had taken care of: IEP's, meds, or crazy behaviors.  They keep coming back again and again. The lead balls are just plain heavy, weighing on my heart and my mind. When dropped, they always land on my foot.  Ouch.  The crystal ball is the one that looks into the future.  My crystal ball is murky, hazy, unclear.  I have no idea what the future holds. 

Enter the positive spin:  Everytime a rubber ball comes back, I get to make it better.  I learn from it, grow from it, and hopefully get a better result. The lead balls are like lifting weights.  It makes you stronger in the end.  And finally crystal.  Just like a crystal chadelier or wine glass, it can be truly beautiful when hit just right by the light.     

Learn what I can, let it make me stronger, and find the beauty.

The sparkling brilliance of my daughter with a future too bright to see.

                                                                                                      photo credit

No Shame In Tears

Last week I was reading (Time, I think) that crying is the bodies natural reset button.  I have been doing a lot of 'resetting' over the last 6 months: any place, any time, accept home.  My daughter is incredibly empathic and she falls apart if she sees me cry. Without a single word or look her radar picks up on my emotions, "Mom, why are you sad?". I have no way to explain it to a 7 year old.  I am her rock.  I have to be.  So I 'reset' in my car or at work in my office in those spare moments when I am alone. Then I get embarrassed and maybe a little ashamed, trying to fix my makeup before someone walks in.  Quite frankly, I am tired of the tears, but I know I can't stop it.  So here is my plan: get some waterproof mascara and say "bring it on".  I have no shame in my tears and I will explain to my daughter that I cry because I love.

The diagnosis came in October and it was rough, but it is not like we didn't know something was wrong.  Partly I was relieved to finally know what the real deal was - and that there was a physical reason behind everything that was going on. We attended our first symposium on October 30, and it was like going down a checklist of all the issues we were having. Here was the answer, and here also was the beginning of more questions, I dove right in and read every book I could find in the library, and scoured the internet for information.  I read the factual, scientific reports, and I read the first hand accounts of other families dealing with Fragile X. I couldn't stop the emotions: worry, fear, anger, jealousy,etc. I still feel overwhelmed some days and I am still working on acceptance. Like the tide, it ebbs and flows with good days and bad, but I am her rock, and I will not erode.

Fragile X, My Definition

There are many articles and medical journals that can provide a precise definition. A quick google search is all you need. Here is my first hand, non medical definition that hits the highlights.


As little babies, all of us have hundreds of thousands of little brain synapses reaching out to make connections and grow strong. Along the lines of our development, a certain protein called FMR1 steps into the picture enabling some connections and disabling others. This protein does not exist in the bodies of Fragile X people.  Their brains take in thousands of pieces of information, more than you or I can ever imagine, but there is no where for this information to go.  Only a few tenuous pathways exist to give it a permanent residence in their brains.  Knowledge gained is hard fought, but permanent.


Physical development is fairly normal. A few differences may exist including large heads, soft connective tissue (which creates soft skin and hyper-extendable joints), large ears and elongated chins, but this is not evident in all cases.  It is the mental development that takes the punch. Delays in learning, speech, motor skills, attention, behavior and social interactions are what we see across the board. There are varying degrees of each in all affected people.


My daughter is in a constant state of hyper awareness.  You and I filter out tremendous amounts of information everyday.  What we don't filter out gets organized and stored in our minds with the full confidence that we will be able to retrieve it when we need it. This doesn't happen for my daughter.  All of this information piles into her brain with no where to go, and no way for her to hold onto it. Imagine a perpetual traffic jam on the information highway in your brain. Complicate that by not knowing where the offramps are - or that they even lead anywhere. It is easy to see why my daughter can become overwhelmed so easily, why she is so sensitive to sights and sounds, why she can not stay focused on any one item, why she exhibits severe mood swings and behavior outbursts, why she thrives on and requires routines and perseverates on the unknown. We can also see why she so desperately reaches out for a social connection, a life line, even if she doesn't know what to do with it when she gets it. People call it road rage when it happens on the highway.  People call it bad parenting when it happens with our kids.


XQ27.1-28.   Letters and numbers that seem so random, yet are so powerful. These are the portions of the X chromosome that are missing from my daughters DNA. Section 27.1 through 28 of the Q arm of the X chromosome. 27.3 is the specific portion that creates FMR1.  For the typical person with Fragile X,  there are a significant number of repeats of 27.3, rendering it unable to produce this protein.  In my daughter's case, 27.3 is missing: same result though, no protein.


One in every 800 men and almost 260 women walk around as carriers of this syndrome.  Women pass the full mutation on to their children, but they receive it from either parent. Boys have more extreme cases, as their chromosomal makeup consists of 1 X from their mother and 1 Y from their father. Girls receive 2 X chromosomes, allowing one to help make up for the deficiency in the other.   Because it is genetic, it can reappear often in the family tree. My daughter's condition is not inherited and was a spontaneous mutation of her chromosome. This does not exist in my family tree.


A few random thoughts:
  -   It is quite amazing actually that more bits and pieces are not left off of people's genetic makeups.  Maybe they are and have been for generations.  We just see them as other things.
  -   Imagine for a moment if those hundreds of thousands of connections where allowed to develop?  I have heard that the average human uses 10 % of their brain.  Could evolution be directing us to realize more of that capacity?  Could these kids be the forerunners of that evolution?    

Welcome to an extraordinary journey

About a month ago, I was watching the latest Narnia movie and I was struck by the line "This is quite and extraordinary thing, you must be quite an extraordiary person" (or something to that effect). This keeps playing in my head.

Extraordinary things happen to extraordinary people.    

My daughter is extraordinary.  She was born with a spontaneous genetic abnormality, one that is shared by about 20 known people in the entire world.  I think she qualifies.

This condition does not have a name, but it has the same result as fragile X, so it is labeled Deletion Fragile X. 

The last 7 years have been a mad rush down a blind alley. There are no rule books.  Nothing pertains to my kid.  Everything is trial and error - from diet and medication choices to behavior and education strategies. Perhaps I am not as blind as I was even a year ago, she finally has a diagnosis, but I still have no idea what is at the end of this alley.

This blog is to help me navigate this journey and share my experiences, but if I am truly honest with myself, it is to help me accept the extraordinary circumstances of my life.