AFTER THE INITIAL NEUROFIBROMATOSIS DIAGNOSIS THREE
YEARS AGO DR. VISKOCHIL, LADYBUG’S
GENETICIST, SPOKE TO US ABOUT GENETIC TESTING. AT THE TIME, WE ALL AGREED THERE
WAS NOT REALLY A NEED TO RUN THE TEST(S). RYLIE HAD NF, SHE FIT ALL THE
CRITERIA, THE TEST WASN’T
GOING TO TELL US ANY DIFFERENT. AS TIME WENT ON RYLIE’S TUMORS DEVELOPED- SHE HAD
A FEW SURGERIES AND STARTED CHEMO. AGAIN, THE SUBJECT OF GENETIC TESTING CAME
UP. HOWEVER, THIS TIME NOT JUST FOR LADYBUG BUT FOR BRETT AND I AS WELL. YOU
SEE NF IS A GENETIC DISORDER THAT CAN BE
INHERITED FROM A FAMILY MEMBER OR DEVELOP FROM A SPONTANEOUS
MUTATION; OUR MEDICAL TEAM TENDS TO BELIEVE LADYBUG’S CASE IS STRICTLY A
SPONTANEOUS MUTATION... JUST RANDOM LUCK… YAHOO! SEND US TO VEGAS!
LAST YEAR WE BEGAN SERIOUSLY THINKING ABOUT GENETIC
TESTING FOR A FEW REASONS--- ONE, HAVING GENETIC TESTING DONE WILL TELL US
EXACTLY WHAT TYPE OF NEUROFIBROMATOSIS MUTATION LADYBUG HAS. WHILE IT DOES NOT
CHANGE ANYTHING FOR HER NOW NOR DOES, IT AFFECT MEDICAL DECISIONS THAT HAVE ALREADY
BEEN MADE. WHAT IT CAN DO IS CHANGE HER FUTURE. SOME DAY IN THE FUTURE WHEN A CLINICAL TRIAL BECOMES AVAILABLE
THIS PARTICULAR TEST WILL HELP US TO KNOW IF SHE WILL QUALIFY. IF THE CLINICAL TRIAL
IS AIMED AT ATTACKING A SPECIFIC MUTATION, WE WILL NEED TO KNOW WHAT LADYBUG’S MUTATION IS. IT GIVES US,
AND THE NF RESEARCHERS INFORMATION WE NEED TO FIND A CURE. WE MAY NOT BE ABLE
TO DO ANYTHING WITH THE INFORMATION RIGHT NOW BUT WE MAY BE ABLE TO USE IT IN
THE FUTURE! THE SECOND REASON FOR DOING THE GENETIC TESTING ON ALL OF US IS FOR
FAMILY PLANNING PURPOSES.IF NF IS A GENE WE ALL CARRY IT WOULD LIKELY BE PASSED
ON TO FUTURE CHILDREN.
SO… WHY TALK ABOUT TAKING THE TESTS NOW? TWO REASONS
REALLY. ONE, AS THIS YEAR COMES TO A CLOSE WE HAVE ALREADY HIT JUST ABOUT EVERY
LEVEL YOU CAN THINK OF IN REGARDS TO INSURANCE DEDUCTIBLES AND PREMIUMS. DOING
THE TEST THIS YEAR WILL SAVE US A GREAT DEAL OF MONEY. WHILE IT IS NOT THE MAIN REASON FOR
OUR DECISION, IT IS A HUGE FACTOR. WE ARE TALKING THOUSANDS OF DOLLARS IF WE
WAIT UNTIL NEXT YEAR OR EVEN THE YEAR AFTER THAT. THESE TESTS CAN BE EXTREMELY
EXPENSIVE AND NOT ALWAYS COVERED BY INSURANCE – ADD IN 3 PEOPLE THAT NEED TO BE TESTED IT
CAN BECOME QUICKLY OUT OF REACH, DOING THE TEST THIS YEAR PUTS THINGS IN A
LITTLE BIT MORE OF A REACHABLE POSITION
FOR US. THE SECOND AND PROBABLY THE HARDEST PART OF THIS DECISION INVOLVES
BRETT AND I. THIS HAS BEEN SOMETHING WE HAVE STRUGGLED WITH FOR ALMOST 2 YEARS
NOW- THE DECISION TO PERFORM THE TESTING OR TO FORE GO IT ALTOGETHER. WE HAVE KEPT THIS DEBATE PRIVATE
FOR THE MOST PART, AND TO BE HONEST BRETT AND I AT TIMES HAVE AVOIDED
DISCUSSING IT WITH EACH OTHER ALTOGETHER. THESE TESTS WILL VERY MUCH DETERMINE
OUR FAMILIES FUTURE AND WE BOTH HAVE TO BE PREPARED TO NOT ONLY HEAR THE RESULTS
BUT LIVE WITH THEM AS WELL.
BRETT AND I HAVE ALWAYS ASSUMED WE WOULD HAVE MORE
CHILDREN. AFTER RYLIE WAS DIAGNOSED WITH NF WE BOTH AGREED IT CHANGED NOTHING
AND WE MOVED ON WITH THE IDEAS OF HAVING ANOTHER BABY WHEN WE WERE READY,
I MEAN WE HAD A 6 MONTH OLD. ADDING ANOTHER MEMBER TO THE FAMILY WAS STILL A
LONG WAYS AWAY. FAST FORWARD A YEAR AND EVERYTHING CHANGED. RYLIE’S TUMORS WERE
FOUND; SHE STARTED CHEMO, AND A WORLD WIND OF STRESS AND CRAZINESS ENSUED. WATCHING
YOUR CHILD GO THROUGH SOMETHING AS EXTREMELY PAINFUL AS A YEAR OF CHEMOTHERAPY
CHANGES THINGS. WATCHING YOUR CHILD SUFFER THROUGH THAT PAIN AND NOT BE ABLE TO
DO ANYTHING ABOUT IT DAMAGES YOU. IT CHANGES THE WAY YOU INTERACT WITH PEOPLE, HOW
YOU DO THINGS, AND THE WAY YOU PLAN FOR THE FUTURE… IT CHANGES EVERY SINGLE ASPECT OF YOUR LIFE. DREAMS
YOU HAD CHANGE, PLANS FOR THE FUTURE CHANGE AND IT TAKES TIME TO ADJUST TO ALL
OF THOSE CHANGES.
A FEW MONTHS INTO HER CHEMO TREATMENTS WE AGAIN HAD AN
APPOINTMENT WITH THE GENETICIST. THE APPOINTMENT WAS PRETTY ROUTINE BUT ONE
QUESTION AT THE END REALLY THREW US FOR A LOOP….. “DO YOU WANT TO HAVE MORE
KIDS?” IT STOPPED BOTH OF US DEAD IN OUR TRACKS. YES... NO...YES, BUT CERTAINLY
NOT NOW. OUR BABY WAS GOING THROUGH HELL AND WE COULD NOT EVEN THINK ABOUT
ADDING A BABY TO THE MIX. FOR ONE HER CHEMO SCHEDULE DICTATED OUR ENTIRE LIFE,
HOW WE WOULD EVER MAKE IT TO ONE MORE DOCTORS APPOINTMENT SEEMED COMPLETELY OUT
OF REACH. MOREOVER, MY TRACK RECORD OF HAVING A DREAM PREGNANCY JUST DOES NOT SEEM TO EXIST. DR. VISKOCHIL WAS KIND
AND UNDERSTANDING, REALIZING WE PROBABLY HAD NOT EVEN THOUGHT ABOUT THE TESTING
SINCE WE LAST VISITED WITH HIM. HE REMINDED US THAT GENETIC TESTING WAS STILL
ON THE TABLE AND IF/WHEN WE WERE READY TO HAVE ANOTHER BABY IT MIGHT BE
SOMETHING WE WANT TO CONSIDER. YOU SEE, IF BRETT OR I CARRY THE NF GENE WE HAVE
A 50/50 CHANCE OF PASSING NF ON TO ALL FUTURE CHILDREN. STATISTICS, THAT TO BE
HONEST SCARES THE CRAP OUT OF US. IF RYLIE’S MUTATION WAS IN FACT SPONTANEOUS,
WE HAVE MORE LIKE A 1 IN A MILLION SHOT... KIND OF A LIGHTNING DOES NOT STRIKE
TWICE SCENARIO. FOR US WE NEED THESE ANSWERS BEFORE WE CONSIDER HAVING ANOTHER
BABY.
THAT APPOINTMENT, THAT QUESTION, HAUNTED ME ESPECIALLY FOR
MONTHS AND IF I AM BEING HONEST, IT STILL HAUNTS ME. IT IS ALWAYS IN THE BACK
OF MY MIND TAUNTING ME WITH A THOUSAND “WHAT IFS”. I HAD ALWAYS KNOWN WE WOULD
HAVE ANOTHER BABY. WHILE WE NEVER HAD A SET NUMBER IN MIND, WE BOTH ALWAYS
TALKED ABOUT “KIDS”, NEVER JUST A CHILD. FROM THE MOMENT RYLIE WAS BORN I
WANTED HER TO HAVE A SIBLING. OKAY, THAT IS A STRETCH BUT YOU GET WHAT I AM
SAYING. BRETT AND I BOTH HAVE SIBLINGS AND WHILE WE MAY DRIVE EACH OTHER
COMPLETELY NUTS, WE KNOW THOSE 4 HAVE OUR BACKS NO MATTER WHAT. YOU HAVE A
BUILT IN BEST FRIEND, A PROTECTOR, A PERSON WHO WILL ALWAYS BE WITH YOU COME
HELL OR HIGH WATER. THE THOUGHT RYLIE MAY NEVER HAVE THAT EXPERIENCE TORE ME UP
INSIDE. MY PREGNANCY WITH RYLIE WAS NOT EASY; IN FACT, I HATED EVERY SECOND OF
IT AND COMPLAINED EVERY STEP OF THE WAY. I WAS CONSTANTLY SICK; I HAD THE WORST
ACNE I HAVE EVER EXPERIENCED… EVERYWHERE, AND TOWARDS THE END STRUGGLED WITH
PRE-ECLAMPSIA. IT WAS AWFUL. THERE WAS NO GLOW, JUST LOTS OF TEARS. THEN, THE
MOST BEAUTIFUL BABY WE HAVE EVER LAID EYES ON WAS BORN. SHE CHANGED EVERYTHING.
SHE MADE ALL THE TEARS AND MISERABLE DAYS WORTH IT. AGAIN, THE THOUGHT OF NEVER
HAVING ANOTHER BABY NEVER CROSSED OUR MINDS. I ALMOST IMMEDIATELY BEGAN
THINKING OF THINGS I WAS GOING TO DO BETTER THE NEXT TIME. YOU LEARN A LOT WITH
YOUR FIRST CHILD AND I WANTED TO DO BETTER THAT NEXT TIME AROUND- TRY HARDER IN
CERTAIN AREAS AND EASE UP ON THINGS THAT REALLY DID NOT MATTER.THE THOUGHT OF
HAVING THAT CHOICE TO HAVE ANOTHER BABY TAKEN AWAY FROM US MADE ME MAD AND IT
MADE ME MAD FOR A REALLY LONG TIME. I FELT LIKE WE WERE BEING PUNISHED FOR
SOMETHING. THEN IT MADE ME SAD. SAD, I DID NOT ENJOY POSSIBLY THE ONLY OPPORTUNITY
I WOULD EVER HAVE TO BE PREGNANT. I TOOK THAT EXPERIENCE FOR GRANTED AND IT DESTROYED ME. IT TOOK ME A LONG TIME TO REALIZE RYLIE’S NF DIAGNOSIS WAS NOT A PUNISHMENT
FOR HER OR FOR US. IT HAS BEEN A HUGE BLESSING. WE HAVE LEARNED AMAZING THINGS
ABOUT EACH OTHER, OUR FAMILY, AND OUR FRIENDS. WE HAVE MET NEW SOULS THAT HAVE
TOUCHED OUR LIVES GREATLY AND WE HAVE HAD EXPERIENCES THAT WE WILL CARRY WITH
US FOREVER. TRAVELING THROUGH THAT
REALIZATION TOOK TIME, TIME THAT WE NEEDED IN ORDER TO COME TO TERMS WITH
WHATEVER THESE TEST RESULTS WILL TELL US. THIS MAY NOT HAVE BEEN THE LIFE WE
DREAMED ABOUT ON OUR WEDDING DAY OR EVEN THE DAY RYLIE WAS BORN BUT IT WAS THE
LIFE WE WERE GIVEN AND WE WANT TO ENJOY EVERY SECOND OF IT.
THAT ONE QUESTION SPARKED A DEEP FEAR IN BOTH OF US AND
ULTIMATELY A QUESTION WE HAD TO HAVE ANSWERED BEFORE WE DECIDE TO EXPAND OUR
FAMILY. DID RYLIE INHERIT NF FROM ONE OF US? WHEN YOUR CHILD IS DIAGNOSED WITH
A LIFE LONG DISEASE, YOU HAVE A LOT OF QUESTIONS. OUR FIRST QUESTION HAS ALWAYS
BEEN HOW? HOW DID THIS HAPPEN? WE DID NOT EVEN KNOW WHAT NF WAS 3 YEARS AGO. KNOWING
THIS IS A GENETIC CONDITION AND PERHAPS SHE GOT IT FROM US IS PHYSICAL AND
MENTAL TORTURE. I WANT TO MAKE IT VERY CLEAR, WHILE WE HAVE NEVER BLAMED
EACH OTHER, WE HAVE BLAMED OURSELVES REPEATEDLY. WE ARE ALWAYS SECOND GUESSING
CHOICES WE MADE WONDERING IF THIS OR THAT DID THIS TO OUR BABY. IT DOES NOT
MATTER HOW MANY TIMES A DOCTOR TELLS US WE DID NOTHING WRONG, YOU ALWAYS FEEL
YOU DID. THESE TESTS ARE NOT ABOUT PLACING BLAME, THEY ARE JUST ANSWERS TO A
PUZZLE WE ARE TRYING TO PUT TOGETHER. WE MAY NEVER BE READY TO HEAR THE RESULTS
BUT WERE PREPARED TO HANDLE WHAT WE HEAR AND MOVE FORWARD WITH WHAT WE FILL IS
BEST FOR OUR MARRIAGE AND OUR FAMILY.
SO, LAST WEEK WE OFFICIALLY STARTED THE GENETIC TESTING
PROCESS. <INSERT HAPPY DANCE OR TERRIFIED FACES, IT REALLY JUST DEPENDS ON
THE DAY> THE FIRST PART OF THIS TEST INVOLVED A SIMPLE BLOOD TEST FOR RYLIE.
THE RESULT WERE SENT OFF TO A UNIVERSITY BACK EAST WHERE THEY WILL STUDY EVERY PART OF HER DNA.
ONCE THEY KNOW WHICH NF MUTATION SHE HAS, A REPORT WILL BE WRITTEN AND SENT OFF
TO THE UNIVERSITY OF UTAH WHERE THEY WILL THEN CONTACT US WITH THE RESULTS.
FROM THERE ANOTHER SET OF BLOOD TESTS WILL BE PREFORMED ON BRETT AND I. OUR TEST IS MUCH LESS INVASIVE.
ONCE THEY KNOW WHICH MUTATION RYLIE HAS THEY WILL ONLY BE LOOKING FOR THAT MUTATION
WITH US SO WE HAVE A LOT LESS BLOOD THAT WILL NEED TO BE STUDIED. THINK OF IT
THIS WAY; RYLIE’S TEST IS LIKE A RULER- OUR TEST IS MORE LIKE AN INCH ON THAT
RULER. WHATEVER MUTATION SHE HAS ONE OF US WOULD HAVE TO HAVE IT IN ORDER FOR
NF TO HAVE BEEN PASSED DOWN BY ONE OF US. IF THEY DO NOT SEE THAT PARTICULAR
GENE PRESENT IN EITHER ONE OF US WE WILL KNOW WITH 100% CERTAINLY THAT RYLIE’S
CASE WAS STRICTLY SPONTANEOUS.
WE’VE GOT ABOUT A 6 WEEK WAIT FOR RYLIE’S RESULTS SO WE
EXPECT TO MEET WITH THE DOCTORS TOWARDS THE FIRST PART OF NEXT YEAR TO GO OVER
HER RESULTS, AFTER THAT WE WILL LOOK INTO SCHEDULING OUR TEST AND AGAIN HAVE
ANOTHER 6 WEEK WAIT FOR THOSE RESULTS. OUR HOPE IS TO HAVE SOME ANSWERS BY
SPRING OF 2016. IT IS A LONG TRIP DOWN
THIS EVER CHANGING NF ROAD BUT WE ARE EXCITED TO GET SOME ANSWERS AND HOPEFULLY
BE ABLE TO BETTER PREPARE FOR WHATEVER THE FUTURE MAY HAVE IN STORE FOR US.
AND... JUST BECAUSE SHE'S CUTE... PICTURES!
