Fragile X Rough Draft.

26 Nov

Nothing ever really prepares you for a situation unless you have some idea of what lies ahead. Even then it is still a mystery until you actually experience what it is like.  By nineteen I found out Fragile X was going to change my life forever.

Fragile X is the second most common cause of a mental disability behind Down syndrome, and can cause Autism is some cases. We all have 46 chromosomes in our cells, two of which are sex chromosomes. In females, these are two Xs; in males they are X and Y.  Gene’s are given names to identify then and the gene responsible for fragile is the called FMR1 Gene is on the X chromosome. The FMR1 gene appears in four forms that are defined by the number of repeats of a pattern of DNA called CGG repeats. Individuals with less than 45 CGG repeats have a normal FMR1 gene. Those with 45- 54 CGG repeats have what is called an “intermediate or “grey zone allele”, which does not cause any of the known fragile X associated disorders.

Individuals with 55- 200 CGG repeats have a “permutation”, which means they carry an unstable mutation of the gene that can expand to future generations and thus cause fragile X Syndrome in their children or grandchildren.  Someone like me with over 200 CGG repeats have a full mutation of the FMR1 gene, which causes fragile X syndrome and passes fragile x on to my children.

I knew I wanted to talk at some point I just didn’t feel the need to because I didn’t think anyone would really listen to anything I had to say.  Childhood for me from my first memory was one of exploration. I really liked figuring things out. I remember waking up one morning, and hearing the sound of a bucket being knocked around. I think I was still in my pajamas I can’t remember. I went outside to see what it was, and it turned out to be a baby goat that had been given to me. The poor thing had gotten stuck in a bucket outside. I think I was two years old when that happened.  I also remember being afraid of Thunder when I was 2 ½ years old. I was at my grandparents visiting, and it was raining, then with a loud crack in the sky that shook the house a little sound went boom. I was scared out of my wits and ran up stairs really fast, and hide underneath a blanket until someone came to find me. Still even though I was afraid it still intrigued me. I wanted to know what was happening around me, but I didn’t talk to people really so why bother asking questions.

My parents only told me that I didn’t talk to anyone else accept myself when I was little. A record player and later tape players became my best friends. For when all else failed throughout my life at least I had music to communicate my feelings for me. I learned my letters, numbers, Doe Rae Me, and Mother Goose nursery rhymes. I was not home schooled I did go to a progressive thinking Pre-school though called Rainbow School where I was born in Oregon. We learned our numbers, letters, and listened to books on tape. One book on tape that I remember was Green Eggs, and Ham by Dr. Seuss. I had a lot of fun at that school.

I moved to New York near the Catskill Mountains a few years later, then in 1981 I moved to Miami Beach. I didn’t go to school until I was almost six to start kindergarten. I was found to have a learning disability in Math when I was in Elementary school. After testing me I scored low in the math sections. I could do the basic parts of math after a lot of hard work because Math can be a real pain the ass.

It all started with a phone call from my aunt Kathy she had one child who ended up with a disability, and then tried having another son who ended up with Autism, and Fragile X. She was brave enough to tell the rest of the family, because after her sons came back positive the National Fragile X Foundation had traced carrier of the gene back to my grandfather Leonard Becker, Sr. who had received the damaged X Chromosome from his mother which was then passed on to my mother, and her four younger sisters. Leonard Becker accomplished quite a bit in his life he was given a doctorate degree, and later he taught at Syracuse University as a professor. When he passed away in 2005 his brain was donated to the Mind Institute in California.

The day I went to Jackson Memorial Hospital to get my blood drawn to test for Fragile X. I was scared of the needle first, but not afraid really of the outcome I still felt like everyone was wrong, and I didn’t have Fragile X.  I was tested in late February, and the report was made March 7th, 1996. At that time the doctor told me there was basically no hope as far as having a healthy child on my own. I was told I would need more special education classes, counseling, medication I couldn’t afford, etc. I felt my whole world crashing around me. I walked out of there devastated. I told my mother I am never going to have a healthy child, and started sobbing.  Then a family with a boy in a wheel chair came out of the elevator seeing him just made things seem even more painful.  This was the last straw that broke the camels back so to speak. Sitting in the car with my mother talking about my diagnosis was not fun either she wasn’t much help really at least I thought at the time. Telling me she halved believed the doctor as far as my reading level at the time which I knew was low, and some emotional issues, etc…

Of course all the banter went back, and fourth for a few months I yelled at my other I remember cursing at who ever my mother was talking to at the National Fragile X foundation, because they were all wrong just so FUCKING wrong about me, and what my future would be like, etc. HOW the Fuck could they say that my life was in ruin all because of Fragile X. I will show those people, and my mother. I did go to college, but that is a whole other chapter. The main thing was I was still in high school, and I needed to graduate no matter what, and prove them all wrong. A huge undertaking, but I did have some support that came from my teachers in high school. I always read books, but I needed to learn to really read. Also the right books are important too. We don’t learn our vocabulary, comprehension, and expand our word choices through just any book, news paper, etc.

So I was on a mission, and the reading level I had tested at was at about a six grade level something like that I don’t really remember. Forgive me. So I had to get to high school level, and fast. So a round of reading books on a list, and testing, all began. This was also in preparation of English part of the high school competency test.  Yes the dreaded test that we all had to take with a Math section to receive a standard high school diploma. Every student had to pass the English, and math sections with a score of 700.

I studied for months, but I could only pass the English section, and get close with the Math section some times, but never to were I needed my score to be.  Failing to pass the math part only gave me two options I could get my GED or walk with the rest of my class, and receive a special diploma that would show that I met the requirements for some one that took special education classes. I took option number two, and never thought twice about it, and still walked with my class on graduation day June 11, 1997. My mother’s birthday. I graduated with a class of 500 seniors. I bought a long light green cotton dress to wear under my robe, and shoes. My grandmother came from upstate NY to visit for the event. I was very happy.  After the graduation was over, and I said goodbye to my friends I went out to dinner were my brother worked, and had a five star dinner with desert. Very fond memories.

I took some time off, and tried to figure out what to do with the rest of my life after high school, and that was not fun. It was either get a job or go to a community college, etc… I didn’t want to work at first for some one else, and took odd jobs through family instead ironing, baby sitting my niece, cleaning, etc.. That took a toll on me, and then I decided that I really needed to find a job outside of family so I went looking taking the bus, to the mall, and filling out applications, and calling people, etc.. It took a while then the restaurant where my brother worked had an opening at a new gourmet market that Chef Allen Susser was opening so I went there to fill out the application then I was interviewed finally after two weeks I think I was able to get my first job.

Now I had never worked with the public before so I was scared talk about anxiety I was at a ten. My first day was so nerve racking. I had to pass out flyers, and give people coffee with a pastry if they desired one. I only did this mind you because the owner Chef Allen decided the only way I was going to learn was to put me out there to try. I did pretty good even though I was scared.  I worked at that job for almost a year.  Then after that I felt like I could give college a try, and looked into applying for a while then a friend of my stepfather’s told him about Barry University. I took my time exploring the possibilities then I applied there, and found out they had a program that helped people with learning disabilities, etc.. I was accepted after an interview with the head of the Center for Advanced Learning who knew of Fragile X also.

Then started the whirlwind that was my college years. College can be a great experience which it was on many levels, I came out of my comfort zone as far as people even more, my writing improved with help, and understanding professors. I was exposed to photography, to acting through the theater department, and college life in general. I spent almost four years, but  then in my late 20’s my Thyroid which I didn’t know was starting to cause major problems so I had to leave school.  By 2003 I found another job at Bed Bath, and Beyond and worked there till the summer of 2004 when I was 26, and my Thyroid was causing major problems, etc.. I was out of work for a while then I decided to go back to college at Florida International University. That was not the greatest decision though because I was not well at all. You feel like you don’t know what’s up or down or anything. It hurt so much not to feel sane.

Then it was decided by my stepfather to send me to where my mother lived in North Florida so I could figure it out up here. It took another few years, and getting in contact with a private mental health assistance company called Life Management of North Florida. They were some help some times, and the different drugs where a pain, and some times caused strange side affects like muscle tightness that was really painful, and swelling of my own tongue, etc… Seroquel, and Geodon, Abilify, etc.. Another time I felt like a lad rat so to speak. I tried working so I could be productive some how, but the side affects made me tired on top of that too. So much so it felt like I hadn’t slept at all when I had eight hours of sleep.  This was not a time that I like remembering still it is important all the same.

I finally had to quit my job in the summer of 2006, and it took a few months, but I found the job where I am currently employed now. It took until 2008 to finally have one more horrible insane episode to have the nurse at the Physicatric hospital to realize it was my Thyroid causing the problems. That I shouldn’t have been diagnosed with Schizophrenia after all. That it was my Thyroid, and Fragile X all along that should have been dealt with.

More to come……

2 Responses to “Fragile X Rough Draft.”

  1. dharmaFarm (@dharmaFarm) January 9, 2013 at 8:34 pm #

    I came across your blog looking for personal stories related to Fragile X carriers. I just got an intermediate test result, 4 months into a pregnancy. I have a 7 year old who doesn’t seem to be affected by the premutation level Fragile X, but she has not been tested. I’ve read that some intermediate carriers have their genetic repeats increase during conception, so that their offspring may have premutation levels. But I’ve also heard that sometimes the number of repeats reduces over a generation. The baby’s father hasn’t been tested yet.

    I’ve been vacilating between trying to stay calm, because this has been our situation whether we knew it or not before the test, and feeling scared about some of the potential outcomes for premutation in our child, and full mutation in successive generations. I know we will do out best.

    Thank you for sharing part of your story. “Getting the news” has been a very difficult start for this journey. Reading your experience of finding out and your opinions about predicitons for future outcomes and limitations has helped me feel less alone as I consider what may be the future for our children and grandchildren. And I really know that it is a “may” be. I think I was not ready to get this test. I think I would have been more skilled and mindful at seeing the child as he or she unfolded.

    • sarahrose34 January 18, 2013 at 2:47 pm #

      Thank you for your feedback. I really appreciate it. I am so glad that you feel better about your own situation. Thank you again.

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