CODY'S STORY
“Mrs. Randels, we have the results back from Cody’s
genetic tests. Your son has Fragile X.” After hearing these
words, I started to cry. Up until the results came back I tried
not to go on the internet to research Fragile X. I felt like if
I did then I was setting myself up and I thought if he doesn’t
have it, why learn about it. I want to share my story so that if
you are a parent of a child diagnosed with Fragile X you will know
that you are not alone and because Fragile X is not the end of
the world.....
When my husband, Ryan, and I found out I was pregnant just a month
after being married we were ecstatic! We knew how lucky we were,
to not have to struggle with trying month after month to conceive.
What we did not know was how much our lives would change after
giving birth to our son, Cody. When Cody was 20 months old he was
diagnosed with Fragile X Syndrome. A term neither my husband nor
I were familiar with then. A term now that I focus my life around
in order to help my son by finding every possible assistance he
can receive.
When Cody was born he weighed nine pounds. He scored high on his
Apgar Scale and so when we took him home, Ryan and I thought our
lives would be just like we had thought they would be. A husband,
a wife, and a child who would do and be all the things we dreamed
about. But, it was different. Cody was reaching his milestones
later than he should have been.
When he was 10 months old he sat.
When he was 13 months old he crawled. At 18 months old he still
was not walking, talking, or eating table food. I was not as concerned
about the walking and talking because I had talked to Cody’s
pediatrician several times and he would just say that Cody was
a “big kid” and would do those things when he was ready.
I was very concerned about his eating though. Every time I would
try to give him anything except baby food, Cody would throw up.
We would try crackers and Cheerios because we thought those would
be easiest for him. No matter what it was, Cody would throw up.
But again, Cody’s pediatrician was not concerned. When Cody’s
pediatrician told me that everything was fine, I trusted him, I
did not argue with him because admitting that there is something
different with your child is the most difficult thing a parent
may have to do. I would run out of the doctor’s office and
convince myself that everything was fine because his doctor said
so. I would agree with him until the next appointment when I would
bring up my concerns again.
At the end of August 2002, when Cody turned 18 months my neighbor,
Tina, told me that she had concerns about Cody. It is probably
one of the hardest things, but one of the most appreciated things
she has ever done. Tina, is the director of the daycare Cody goes
to. Once a month, as part of state requirements, she has a visiting
nurse come in and observe kids and observe how the daycare is running.
The visiting nurse said that she was concerned about Cody because
he would not follow simple commands, like “Hand me the car”, “Where
is the triangle?”. I justified that by saying that I did
not do those things with Cody at home so why would he do those
things with a complete stranger...Cody was our first child and
I was a mom who was guilty of doing everything for him. If he looked
at his bottle, I handed it to him without making him point to it
or make a sound to get it. So why would he be able to pick out
things when I was doing everything for him at home? I also thought,
this person is “just” a visiting nurse, if she knew
anything, she would be more than “just” a visiting
nurse. I do not really feel that way, I was just angry and scared.
I was never mad at my neighbor. Deep down inside I knew that I
had concerns, too.
I called everyone I knew who had kids of their own to ask them
their opinion. Many of them said that they did not think there
was anything wrong. Cody was fine and “all children learn
at different rates”. I agreed with this, I am a teacher and
every day I see my students learning things differently. One person
I talked to though, my mom, said that she had concerns too. Ryan
was livid and said, “There is nothing wrong with my kid” and “Who
is this visiting nurse looking at Cody with out my permission”.
During the months of September and October, my mom and I took Cody
to 13 different doctors, specialists, and therapists. Ryan, my
brother, and my dad all thought my mom and I were crazy. They would
say, “Cody will do those things when Cody is ready.” I
hoped they were right but I wanted a doctor to tell me that. Finally,
we took Cody to a Developmental Pediatrician. He suggested for
us to come back in three months or we could do genetic testing
now. My mom mentioned Autism to him and he agreed that some of
Cody’s symptoms were autistic-like. But he was not comfortable
labeling Cody with Autism at that time. I agreed to the genetic
testing because I felt like that was the only way that we would
get solid answers, even if the answers were that he did not have
anything genetically wrong with him, at least I would have those
answers. The doctor said there was a 2% chance that Cody had something
genetically wrong with him. He mentioned that one of the tests
that would be done was a Fragile X test. On November 5, 2002 we
had Cody’s blood taken for the testing.
I went home and looked Fragile X up on the internet. Cody did not
have the long face, large ears, flat feet, unstable moods, or loose
joints. Only one of the symptoms matched and that was the developmentally
delayed symptom. I felt confident that Cody would test negative
for this syndrome. Then two days before we were to get the results
back...I got that feeling. The feeling you get in your gut when
you know something is happening. On November 15th, I got a call
at work that confirmed that Cody’s Fragile X test had come
back positive. I was so scared, I had no idea what Fragile X meant
and how it was going to impact my immediate and extended family.
I called Ryan at work and cried, I told him that Cody has Fragile
X and that I was going to the doctor’s office with my dad
and Cody to meet with the geneticist and a genetic counselor to
learn more about it. All I knew was that it was something in my
body that I was passing on to my kids. I was a wreck. All I have
ever dreamed of was being a mom and at that time I felt like that
dream was being threatened.
More than 85% of marriages fail when a child is diagnosed with
a disability. Ryan never blamed me. He has proven to be more supportive
than I initially thought he would be. He has a lot of questions
about Cody’s future, everyone does. He has stuck by me after
the diagnosis and encourages me to keep doing all the things I
am to help our son. He loves Cody more than anything in the world.
When something devastating happens to people, one might ask why
me? For me, all I could say was “Thank God it was me”.
I do not know if others I know could have handled the diagnosis.
Some women say they feel guilty that they passed on Fragile X to
their children. More than feeling guilty, I was relieved. For so
long I thought something I did during pregnancy was the cause for
Cody’s delays... Was it because I fell four times while I
was pregnant? Was it because my husband painted the garage and
maybe there was not enough ventilation for the fumes? Was it because
I use rubber cement at my teaching job to do projects? or was it
something as silly as...I never wear a winter coat? I was so careful
when I was pregnant. I was on prenatal vitamins, went to every
appointment, followed every instruction, ate healthy, I never smoked
and I did not drink anything other than water and juice. I read
the book What to Expect When Your Expecting from front to back,
over and over, and I was extremely cautious about everything I
did...but still I wondered if it was something I did during pregnancy
that was the cause of Cody’s delays.
Fragile X is not something you can do. Fragile X is passed on through
generat
ions. Cody inherited it from me, and I inherited it from
my dad, and he inherited it from his mom and so on... I am a girl
and I am made of an X and an X chromosome. One of my X chromosomes
is affected by Fragile X and the other one is unaffected. Cody
is a boy and therefore made of an X and a Y chromosome. He got
the X from me and the Y from Ryan. That is how we knew with out
blood tests that Cody had gotten Fragile X from me. If I had had
a girl then both Ryan and I would have had to be tested to see
which one of us gave her the affected X. Each of my children, boy
or girl, has a 50% chance of being affected. An unaffected person’s
repeats of this gene on the X chromosome is 30. My dad’s
is 96, mine is 103, and Cody’s is over 500. Anything over
200 is considered full mutation which means affected by Fragile
X. My dad and I are considered pre mutation.
This problem was not “my problem”. It was a family
problem. Everyone offered to be tested and everyone knew it was
important that we find out who could all be carriers. My parents,
my brother, cousins, aunts and uncles, and grandmothers have all
taken a part in Cody’s diagnosis. Fragile X is not terminal.
The diagnosis could have been worse. I think losing a child would
be worse than losing a dream.
Now Ryan and I want another child. Here are some of our options...
The only way to guarantee having an unaffected child AND a child
with our genetic make up is to do Pre implantation Genetic Diagnosis
(PGD). The Reproductive Genetics Institute in Chicago is able to
do an egg retrieval and test my eggs for Fragile X. We have completed
this procedure four times. It was not successful for me because
one of the characteristics of being carrier is premature ovarian
failure. My body was not able to create enough eggs to complete
the testing.
Our next option is egg donor. Amazingly enough, my cousin was tested
for being a carrier and was found not to be. She offered to be
our egg donor and we were thrilled. We have completed one egg donor
cycle and it was not successful. We are going to try again in a
week. We are hopeful that this cycle is the one!
We have always wanted a big family, the day after I found out I
was pregnant with Cody, I bought a mini van. I was prepared for
lots of kids. My dream of not being a mother was not what was threatened.
I am Cody’s mother and Fragile X was not going to change
that. My dream of having a big family is threatened.
At the time of Cody’s diagnosis, there was not a local support
group available. My cousin found the name and number of a wondeful
woman who lives 7 hours away from me and who is a mother of two
boys affected by Fragile X. Talking to her was so comforting. We
were able to share our stories with each other and laugh and cry.
Cody’s diagnosis was in November 2002 and in January 2003
I started a support group for Nebraska. To date I have 26 families
and of those families 36 affected children ranging in age from
one year old to 51 years old.
Many families have a plan for what to do if there is a fire or
what to do if there is a tornado and hardly a plan for what to
do if your child is diagnosed with a syndrome.
Cody, is my very special gift. He will be three years old in March.
He walks, runs, and eats table food now. He has a vocabulary of
50 words and signs some words. He loves to be read to and sung
to. He is the light of my life. He makes me laugh, cry, and helps
me to remember that the little things are important in life. No
matter what his diagnosis is, he is still and always will be my
Cody. Our love for Cody never lessened, it has grown and continues
to grow.
“
How wonderful it is that we don’t have to wait another minute
to change the world.” This is a quote that my aunt sent to
me immediately following Cody’s diagnosis. I refer back to
it all the time and know that I have a choice. I can pick up the
pieces and make things better or I can dwell on all the things
that are not going right. I continue to live my life according
to my choice to change the world, for Cody’s sake and others
diagnosed with Fragile X. Fragile X is not the end of the world.
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