November,
2015
Fall
in Columbus, Ohio...beautiful trees, OSU football, and the Cystic
Fibrosis Bowl for Breath. We are asking for your support as we raise
money in our 37th year of participation in this event.
Yes,
it was 1978 when Derik (6 months) and soon 
after
Brent (3 1/2) were diagnosed with this incurable disease....This is
what parents heard in the past: When CF was first recognized as a
disease in 1938, most babies died by their first birthday. In the
1950s lives were extended but rarely past early childhood. In 1978
when the boys were diagnosed, patients expected to live less than 20
years. The discovery of the gene in 1989 saw the life expectancy
continue to increase. And now in 2015 because of YOU and your
generous support of Cystic Fibrosis research, this is what parents
hear...The average age of a CF patient is 37 years old. That is more
than double what it was 25 years ago. Because of advances in
technology and treatment, parents may soon hear life expectancy in
the 40s. In 2015, the population of adult CF patients is expected
to out number the pediatric population for the first time. CF is
still an incurable disease but with research continuing to move
forward there is HOPE for a future of tomorrows for those with this
disease.
FAMILY
UPDATE
JIM
and LINDA:
Most of you know we moved from our family home of 30 years to a condo
in November, 2014. Two “pack rats”, including a teacher
who saved everything, dug out and down sized. We are just 7 miles
east of where we lived.
Jim
is busy taking classes at OSU through Program 60. This semester it
is “Science and Religion” in the Philosophy Department.
He is also busy singing in The National Republican Glee Club...no
political affiliations to belong! Pace’s Home Computer Help is
still up and running. Reading to children at a local school is also
an important volunteer activity for Jim. He is taking lessons to
learn to play the ukulele. And in his new “man cave”, he
is setting up an N scale train layout....No wonder he doesn’t
have any time to cook or clean!
Linda
has begun her 35th year in the Westerville Community Band and also
plays in a flute trio. Her volunteering takes her to grandson
Zachary’s kindergarten class and to a first grade class in the
Columbus Public Schools. Jazzercise is a part of her weekly routine,
although getting down to the floor and then up isn’t as easy as
it once was! Does she have any time to cook and clean?
We
both spend the majority of our days watching our two grandsons during
the work week. That activity requires lots of Grammy and Papa
energy! We feel blessed to be able to participate in Zachary's (age
6) and Jeffery’s (age 3) lives.
BRENT:
Brent
continues to call the south his home. 13 years in Charleston, SC and
still no accent! Brent celebrated his 20th year with BP Chemical.
His official title is Environmental Engineer and Management Systems
Coordinator. Brent was engaged this year! Christine Coode accepted
his proposal in Vale, CO. They have been together for 5 years.
Christine is SR Manager of Data Services for the Make a Wish
Foundation and travels to chapters all over the country. No wedding
date yet. Brent
has made a video for the Cystic Fibrosis Foundation (national).
You can see it at:
https://www.youtube.com/watch?v=WfccmBfMzfQ
You
can see Christine, his dog Leia, and his house in the video...plus
hear him tell his story as an adult with CF.
DERIK's
AND MISTY ‘S FAMILY:
Also
moved from the home they lived in for 14 years. They quickly sold
that home and temporarily moved into our Torchwood house until their
new home was completed. They moved in March 2015 to Blacklick (a
suburb about 15 minutes SE of us.)
Derik
had some serious health issues in December 2014. Zachary and
Jeffery were baptized the Sunday after Thanksgiving and immediately
after the baptism Derik went to the emergency room with symptoms
similar to those he had for a twisted bowel in 2013. Surgery was
performed and afterward he had some difficulty breathing so was put
on a ventilator. Along the way he got C. diff and after 7 long days
he was taken off the ventilator. Healing took awhile and he missed
about 2 months of work. Many of you prayed for his complete
recovery. Today he is doing fine...struggling to keep his weight up
but feeling good. He just had some sinus surgery (a roto-rooter
cleanout that many CF patients have because of the thick mucous). He
is a chef at the Cafe at Express Scripts call center. Here he
creates many dishes from scratch and sometimes brings us leftovers!
Misty
has changed her focus in education. After four years at a Montessori
school, she is now a second grade teacher at a charter school in
Columbus. She has been challenged but is growing and learning
everyday. Misty teaches in the same building that Brent attended in
fourth and fifth grades. There is lots of “teacher talk”
when Linda and Misty are together!
Zachary
loves ninjas, ninjago, super heroes, sports, and pestering his
brother! He goes to all day Kindergarten at a charter school five
minutes from our house. This fall he played flag football and made
lots of touchdowns. Don’t try to catch him...he runs very
fast. He also took an indoor class on rock wall climbing. Right now
he is taking a beginning karate class.
Jeffery
enjoys preschool at a Montessori School two mornings a week. Jeffery
can “talk your socks off” and he is very funny. As we
practice counting in the car to 100 with Zachary, Jeffery chimes in
with the numbers he knows. He likes to play with cars, kick a
soccer ball, and watch Paw Patrol on TV.
Now
for the educational and research component...
Nonsense
mutations. WHAT? DNA
carries the genetic instructions for the development, functioning and
reproduction of all known living organisms. It's not just one long
string of instructions, but groups of instructions for building
individual pieces, kind of like an assembly line for building a car.
A
car assembly line might have stations for: attaching a door,
installing the dash, mounting a tire, and many others. If one of
those stations is missing some of the instructions for completing its
task, the finished product might look like a completed car, but the
car might not work exactly right. For example, the “mount a
tire” station might have instructions like:
Place tire on the 5 mounting bolts
Place one nut on each of the 5
mounting bolts.
Tighten all 5 nuts.
If
any one or more of these instructions are not followed, the car will
certainly have a problem. For example, if the tire is not placed on
the 5 mounting bolts, the car will fail almost as soon as it is
driven off the assembly line. If the nuts are placed on the bolts but
not tightened, the car may seem OK for a while but will fail
eventually.
Nonsense
mutations are like this.
Somewhere in the normal list of instructions for producing the
“cystic fibrosis transmembrane conductance regulator”
(CFTR) gene, the list gets interrupted and the remainder of the
instructions don't get followed.
The
CFTR gene
produces the CFTR protein
which moves to the surface of the cell, controls the movement of
water and chloride in and out of the cell, and thereby mucous
thickness. In normal cells, the mucous is thin and slippery. However,
in CF, nonsense mutations stop the list of instructions and causes
some kind of failure in the production of the CFTR protein making the
mucous thick and sticky.
In
some mutations, no CFTR protein is produced at all. In others, like
F508del (one of the mutations Brent and Derik have), the CFTR protein
is folded wrong and can't get to the surface of the cell. In other
mutations, the CFTR protein reaches the cell surface but doesn't work
right, or the channel that the CFTR protein has to move through is
faulty. Then there are mutations which create the CFTR protein
correctly, just not enough of it. CF people have two of these
mutations (many times two different mutations) which definitely
complicates treatment.
Orkambi:
In
last year's letter I mentioned the possible approval by the FDA for a
formulation combining two drugs (Ivacaftor and Lumacaftor) for
treating CF people (over 12) with two copies of the F508del mutation.
The application was approved by the FDA on July 2, 1015. The drug's
name is Orkambi. This is
the
first drug for cystic fibrosis directed at treating the cause of the
disease in people who have two copies of a specific mutation –
which includes almost half of the CF population. Another almost 40%
of the CF population (including Brent and Derik) have one copy of
F508del and one copy of one of the other (over 2000) mutations.
Interesting
Facts:
A fairly new database (less than 4 years old) called CFTR2
is attempting to amass data on every patient with CF. As of August,
2015, 88,664
people have been registered from 41 countries with CF.
Of these, 64,868 (73%) have at least one copy of mutation F508del.
33,867 (38%)have two copies of F508del.
Brent
and Derik have one copy of mutation F508del
and one copy of mutation 2184insA.
There
are only 218 people (.2% of the 88,664 registered) in the database
with the CF mutation combination that Brent and Derik have.
So
before we sit down with our family for Thanksgiving dinner, we will
say thanks to all who have supported us in our efforts to raise money
for CF research. With all of us together, we can win this fight and
one day find a cure to this disease. We bowl this year on Sunday,
December 6.
You
can mail your contribution to us at:
CF
Bowl for Breath
c/o James M. Pace
6251 Abby Gate
Ct
Westerville, OH 43081
Or
click on the “Donate
Now”
button at http://www.jimpace.eml.cc
to donate online.
The
Pace Family