Well,
actually... more like one in 800 million. But that is exactly how our
family became the luckiest family.
I
still remember when I was in 8th grade and my parents sat
me... and all the rest of my siblings... down for a family meeting.
My parents told us that Simon, who was only about six or seven months
old, has shown all of the signs of having the same challenges that
three out of the four of his older brothers had. At that time, I had
five brothers, four of them with disabilities, and one sister. The
challenge: an Undiagnosed neuro-muscular condition... that was the
name we gave it.
Fast
forward about three years, and that is when Dr. Jen was introduced to
us. Little did we know, Dr Jen was going to be the one to answer all
the questions that we've had all these years. After many
conversations, and a lot of life changes... my brother Michael
passing away at 18 years old, three weeks before my wedding in 2009;
and the birth of our wonderful little boy in 2011; and now... we
finally are starting to have answers.
Today,
for the first time we have a name for the condition my brothers have,
PCH1 with SMA. The article came out today in a major medical journal
named Nature Genetics and a synopsis of the findings of Dr. Jen and
her team can be found online. (Click here for synopsis)
In
an interview with UCLA newsroom, Dr Jen describes some of the amazing
things that were accomplished with the finding of my brothers'
condition. For example “ "When we began
this study, mutations in the RNA exosome had not been associated with
any human disease," Jen said. "Relatively little is known
about the human RNA exosome. It is surprising that a gene that is
expressed in every cell should have such a selective detrimental
impact on the cerebellar and spinal motor neurons.”” Dr. Jen went
on to say “"The discovery may lead to potential targets for
treatment and in addition enhances our understanding of the
biological function of the RNA exosome," said Jen. She is
working with other neurologists to better define the clinical
spectrum of EXOSC3-associated PCH1. "It is remarkable that all
of the affected children in this family have survived beyond infancy.
We are grateful for the generosity of the family in sharing their
experience and participating in research to improve the lives of
other children who are similarly affected," said Jen.”
There
are only around 8 families in the world that have been officially
diagnosed with this condition. And although I expect more people to
find out they have it now that it has been discovered, it is still an
extremely rare condition.
One
of the only reasons they were able to discover what my brothers have
so well was because my parents were so open to God's will in their
lives. They were open to the challenges and the joys. They were open
to the late nights and many hospital stays. They were open to
traveling to France and going to Sea World. They were open to the
good times and the challenging times.
If
it wasn't for my parents and their willingness to allow God to
continue to bless our family with ALL of my wonderful siblings,
disabled or not, they would still not know the answers to this rare
condition. It was only because the doctors could find all of the DNA
and RNA traits that are common between all four of my disabled
brothers and then go through the DNA and RNA between those common
with the boys and take out the ones that are also in common with my
other brother, my sisters, and I that they were able to accurately
figure out what was going on with my brothers and with the other
children around the world who are still alive waiting to figure out
what was the root of the problem.
This
is an amazing accomplishment. I am still in shock that after 21 years
we finally have a name to tell people. I am finally hopeful that in
my lifetime and my brothers lifetime they will be able to find
something to at least slow the progression if not completely cure my
brothers! What a blessing! And because of my brothers and family,
there are many other conditions that will now possibly have a
positive outcome because of how much the doctors are learning about
my brothers' condition that they did not know about before!
Praise
God! What a miracle!
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| Family Picture: Easter 2012 |
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| Michael & Daniel 2008 |
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