Ode to the American Farmer

I am stepping aside from the Fragile x world for this post.  It is in honor of my father who celebrated his birthday a few days ago. He is a retired farmer, the true personification of 'salt of the earth'.  He wrestled a living from the earth, enough for a family of 12.  He remembers life before electricity and plowing a field with horses.  He attended a one room school house until the 8th grade, and not beyond.  He knows what it is like to rely on neighbors to sustain your existance.

Today he has ears that can't hear after years of working around old tractors, skin like an old baseball mitt with a permanent farmer's tan, and a determination to keep going no matter what, not retirement, cancer, or bad hips can slow him down.

I was so fortunate to grow up on a farm, a lifestyle that is disappearing. I remember a dinner table covered with food gathered within 150 feet of our front door and recycling everything before it was 'fashionable'. Dad was always a bike ride away in the fields if he wasn't in the barn or the sheds.  I grew up with 2 stay at home hard working parents. Our farm was a perpetual play extravaganza. There were 10 of us kids and any number of dogs, cats, and other animals, not to mention neighbors and cousins. We all survived with arms and legs intact, although a few got broken along the way. We may have been lacking in material things, but definetely not in imagination, or morals, values and work ethic.  

I have so many vivid images of my father: the day our barn burned down when I was 3 or 4,  showing me how to use the table saw so I could make my own Barbie furniture, teaching me to drive the old station wagon. The strongest one occured almost 7 years ago.  My father had taken up the harmonica and he played it everywhere, anytime. The sound in the background was becoming quite familiar, and we thought little of it.  I am standing in a crowded room, hundreds of people actually, most of them friends and family, a few strangers, and I hear it.  My Mom's favorite song, the one he played for her every night before bed. For a while, I thought nothing of it - just background noise, but then I saw him in the corner of my eye. He was leaning over my Mom's casket, giving her one last seranade. I wish I was a better writer so I could give you an idea of what this moment was. The eventual, absolute stillness of the room, the streams of tears on all the faces.  My Mom and Dad had been marreid for almost 50 years, and he was saying his final fairwell.  He was her caregiver for the 15 years she suffered from Parkinson's, and he was with her when she died. All of us got a little glimpse of what their life was like, a glimpse of his tenderness and devotion. My Dad was always a caregiver and still is.  He cares for his family, he cares for the land and the animals on it and he cares for God.  Thank you for all of this.

I love you Dad.

In The Beginning . . .

I was one of those mothers, you know the type.  I worried about everything I ate, got my exercise and sleep, took my vitamins, gained just the right amount of weight, read all the books, and dreamed about my child to come. We couldn't wait to meet her, and she kept us waiting. Labor was induced 8 days after my due date, and after an uncomplicated delivery, she came out topping the scales at almost 9 1/2 pounds. She was truly beautiful, but all was not rosy. She had a small hole in her heart that quickly closed up.  The doctors let us take her home after 2 days and I still remember the shock and feeling of being in way over our heads. A little jaundice, a little (or a lot) of adjustment and we finally got the hang of it.  Things seemed pretty normal.  We continued on our over protective ways and banned artificial colors and flavoring, high fructose corn syrup and every other thing you would hear about. Organic and hormone free were our buzz words. All babyfood was homemade and the breast milk kept flowing for 18 months.  The house was babyproofed and we continued to read all the books, especially the ones on sleep.  To this day, I have still not caught up.

At 8 months, she said her first word, "Hi", which she said to everybody (human or not) within a 10 foot radius.  She was 14 months when she started walking. She was sensitive to sounds, would not cuddle or rock, never bothered to crawl, hated to sleep and loved to eat.  By the age of 2 she was having a lot of speech issues.  We assumed this was her hearing and the frequent number of ear infections. Tubes helped with the infections, but not the speech.  This is where it began, our entry into the public school system, IEP's and the 'specialists'.

Little did we know it would take 5 more years to get an actual diagnosis.

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?