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Monday, January 17, 2022

Newly Discovered Jewish Genetic Disease Afflicts 5-Year Old Boy

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Sholom Schreirber
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By: David & Stacey Ogman

Being diagnosed with a disease – any disease — is hard. But imagine first
spending months and years going from doctor to doctor trying to figure out what’s
wrong. Then, in the end, being diagnosed with a rare disease that few people
have ever heard of. Now think about that all happening when you’re just a kid.
If you’re in a state of fear, uncertainty, and anxiety right now over the pandemic,
then think about our 4 year old son Jordan, living in this extreme state of social
distancing every single day of his life. Jordan is a rare disease kid. Coronavirus
state of mind is nothing new to us a rare disease warrior parents. But now
America and the World understands what life is like caring for and trying to
protect your medically fragile child. This is how we live 24/7/365. Our entire lives
revolve around trying to avoid life-threatening illnesses; a harmless virus in you
could be a death sentence for Jordan.

From Jordan’s first days after birth in the neonatal intensive care unit (NICU) due
to respiratory issues, we learned to be cautious of our exposure to unnecessary
germs. In addition to Jordan’s hospitalizations for respiratory issues, we noticed
that Jordan wasn’t developing like other babies his age. He wasn’t beginning to
walk or talk at his first birthday, and milestones became inch-stones. We enrolled
Jordan in various therapies—speech, physical, developmental, and occupational
to give him some extra help, as doctors had no diagnosis for Jordan, although we
knew as parents that something just wasn’t right. It took three more years and
countless doctor appointments, medical specialist visits, and further neurological
opinions and genetic testing to put all of the pieces together. In September of
2019, Jordan was diagnosed with a rare, fatal and progressive, neuro-
degenerative, Jewish genetic disease, called TECPR2, that will inevitably,
destroy his ability to walk, talk, eat, sleep, and breathe.

Similar to Coronavirus, Jordan’s diagnosis rightfully made us immediately
terrified of all non-essential social interaction. Is this birthday party, or that
vacation, worth the risk to his life? After all, Jordan’s body doesn’t work or
respond like other children’s. One of the features of his TECPR2 disease, is
progressive central apnea: in layperson’s terms, his brain will forget more and
more often to tell his body to breathe. Additionally, low muscle tone makes
Jordan and kids like him less able to clear his lungs by effectively coughing. A
simple flu or virus for you could end Jordan’s life. Jordan’s fate is our constant
fear: to end up on a ventilator, a machine that breathes for him. We don’t sleep,
we stay up worrying and researching.

Unfortunately, Covid-19 has only compounded our fears for Jordan’s health.
Contracting the novel coronavirus would almost certainly kill him. But while the
effort to keep Jordan healthy once felt under our control, this is no longer the
case. Our careful planning, strategizing, cleaning, sanitizing,
and—yes—24/7/365 distancing aren’t enough anymore. We’re now relying on
the rest of America to conform to an even more ascetic life than our usual, and
many in our area are definitely letting us down. Every social media beach picture, every full restaurant parking lot feels like a slap in the face. The feeling of
helplessness is palpable.

Don’t get me wrong: we aren’t lamenting that we have to live this way—both
during the pandemic and always—because of our medically complex child.
Jordan has made our family more loving, compassionate, and joyful; he’s
improved our lives in innumerable ways. We will always do whatever is needed
on a daily basis to protect him and give him a beautiful life. We will also do
whatever is needed to give him a beautiful future, which is why we are relentless
in raising awareness and funds for the research and development of the life-
saving gene therapy cure that is underway with our Physician Scientist, Dr Barry
Byrne, MD, PhD, at The University of Florida’s Powell Gene Therapy Center for
Rare Disease.

During the pandemic, I’ve seen many people try to console themselves by
saying, “It only kills people with underlying health conditions.” But your “only” is
our “everything”: our joyful Jordan, our daughter’s brother, our parents’ grandson.
“We live in a world in which we need to share responsibility. It’s easy to say it’s
not my child, not my community, not my world, not my problem. Then there are
those who see the need and respond. I consider those people my heroes” said
Fred Rogers.

Beloved by all who meet him, including our two heroes, U.S. Congressman Ted
Deutch and Dr  Barry Byrne. Our U.S. Congressman Deutch recently met Jordan
and asked to visit Jordan during his therapy session to better understand the
daily activities of a rare disease kid. Congressman Deutch then spoke on the
floor of the U.S. House of Representatives on Rare Disease Day, holding up a
picture of Jordan and urging congress for awareness and funding of rare disease
research. Our Congressman understood even before Coronavirus that it
shouldn’t take a global pandemic for the world to realize that children are dying of
rare disease every day.

The way so many are treating and feeling about the pandemic is our real life. We
would do and are doing any and everything to protect our son and save his life.
He is rare disease warrior, bright, resilient, kind and hilarious – he deserves this
same level of compassion and social respect from everyone everyday. Your
sacrifice during this time and hopefully moving forward is for the greater good.
And we are hopeful that if the habits everyone has now been forced to
adopt—more frequent hand washing, more social acceptance for staying home
when sick—stick past the pandemic, we can give Jordan and Kira a new sense
of normalcy, as the the country learns that your sitting on the couch for a few
weeks might be the cure for America, but it isn’t the cure for the rare disease kids
who for which there is no treatment or cure.

We know that once the immediate danger of covid19 has passed, life must go
on. But please don’t totally forget how you felt during this time, and the new
habits you adopted, just because they no longer apply to you. They will always
apply to our son and children like him.

We understand once the pandemic is over life must go on, but please always be
remindful of children like Jordan – they are absolutely everywhere. When this
pandemic is over please don’t forget the fear and anxiety you felt, because just
because they no longer apply to you, they always apply to our son battling
against a rare disease and so many other medically complex children like
Jordan. Make a positive change going forward with healthy habits and more
compassion and empathy.
Your life may not depend on it, but Jordan’s does.

For more information, please visit the following web site:   SavingJordan.org.

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