WE ARE DEFINITELY AWARE

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Today is World Duchenne Awareness Day.  I wish I had no idea what Duchenne was.  Unfortunately our lives turned upside down one January day a couple of years ago.  Our middle son Peyton was diagnosed with Duchenne Muscular Dystrophy (DMD) at the age of 6.  He is now 10 years old.  DMD is an aggressive, degenerative, and terminal childhood muscle wasting disease affecting boys.  It is extremely rare (but possible) for girls to have DMD.

When most middle school children are preparing for teenage years and adulthood, the natural history of this disease is:

  • loss of ambulation and being bound to a power wheelchair at the age of 12
  • full loss of mobility (including ability to feed oneself) in the mid to late teens
  • tragically short life expectancy by age 24

This is a horrible, debilitating disease that no child should have to endure.  Ethan and I would gladly trade places with him if it were possible.  DMD is often a genetic disease unknowingly carried by the mother.  There are cases, such as ours, where the mother is not a carrier and the disease is caused by a random genetic mutation.   Unfortunately, there is no cure.  Medically researchers are in the infancy of the development for a treatment.

Despite all of this, there is hope.  January 2015, Peyton was admitted into a clinical trial for a drug called Eteplirsen.  This drug is meant to slow the progression of the disease and it is the first of its kind.  It is by no means a cure or a perfect treatment. Part of Peyton’s DNA and genetic code for muscle-building is missing.  DMD patient’s bodies do not produce a protein call dystrophin.  In the DMD world, everyone knows which code their child is missing. Peyton is missing exons 45-50.  It is actually very complicated and Peyton happens to be in the biggest block, known as EXON-51.  EXON 51 happens to be approximately 13% of all the DMD patients.

Based on Eteplirsen, we now have hope that our child will live longer and have a better life. He is one of the lucky ones.  This drug is very expensive, we have been told Eteplirsen ranges in price between $2000 – $5000 for each treatment, each week, for each child, indefinitely.  Peyton goes to UCLA weekly to have the drug infused through a port in his chest.  We have allowed him to make the choice and Peyton chose to be a human guinea pig in hopes that this will not only help him, but thousands, if not millions, of other DMD children.  We believe this new approach to combating DMD will ultimately help others with different diseases.

There are twelve boys who have been on the drug for over 4 years and 10 are still walking into their teens.  This is unheard of in the DMD community.  We have seen positive results in Peyton.  Not only has the disease progression stabilized, but he is actually getting stronger and there have been no side effects whatsoever.

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In April of this year, researchers, doctors, advocates and DMD families, including Ethan and Peyton, descended on Washington D.C. to plead our case for the approval of Eteplirsen to the FDA.  We are still waiting patiently, over 100 days past the deadline set by the FDA, for an answer.  A denial of this drug will be devastating for our community and a death sentence for Peyton.  We wish we were being dramatic, but that is the absolute truth and something that haunts us every day. We have hope that they will do the right thing and approve Eteplirsen. If approved, the pipeline opens up for other kids to have access to the drug.

The United States Congress and United States Food and Drug Administration (FDA) have created guidelines for “Compassionate Use” and the Orphan Drug Act (ODA).  Duchenne Muscular Dystrophy is an orphan disease because it affects such a small population (under 200,000) compared to other diseases such as cancer.  A normal drug takes on average twelve years to get through the FDA process for safety and effectiveness.  Under those guidelines, that is a death sentence to DMD boys.  The drugs we have today will not reverse the consequences of muscle wasting due to waiting for the FDA and years of data.  It took approximately 25 years of data to show that steroids had a positive effect on DMD patients.  In 2005, steroids became standard care for DMD patients.

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We can only speculate as to the reason the drug has not yet been approved since it is working.  From our perspective, there appears to be a bureaucratic battle within the FDA.  The FDA is over 90 days past the deadline they set for a decision.   One of the big reasons some in the FDA are against approval for Eteplirsen is to protect against the approval of a drug that does not work, known as a “Type I error.”  However, what about failing to approve a drug that does work.  That is known as a “Type II error.”  In a recent article by Alex Tabarrok, “Is the FDA Too Conservative or Too Aggressive?”  Tabarrok stated, I have long argued that the FDA has an incentive to delay the introduction of new drugs because approving a bad drug (Type I error) has more severe consequences for the FDA than does failing to approve a good drug (Type II error). In the former case at least some victims are identifiable and the New York Times writes stories about them and how they died because the FDA failed.  In the latter case, when the FDA fails to approve a good drug, people die but the bodies are buried in an invisible graveyard.

Several people we have met during this process have provided many theories as to why the drug has not been approved, those mostly being politics and big money.  FDA may want to protect the bureaucratic process.  The drug is expensive, how would that effect health insurance and will it pave the way for more expensive drugs for other orphan type diseases.  The company that has developed Eteplirsen is a small drug developer.  A denial of the drug could devastate the bottom line for the company and therefore make it cheap to purchase.  It takes approximately one billion dollars to bring a drug to market.  If a small company has the ability to enter the market, it creates more competition for large drug companies that are not as efficient.  It also decreases the barriers to entry for drugs in America.  It bypasses many of the protocols normal drugs have to pass because Eteplirsen treats a terminal orphan disease without another treatment.  Many medical school administrators may not be as willing to advocate for Eteplirsen due to grants and research funding provided by large drug companies.   In actuality, we really do not know the reasons behind the delay, all we know is that boys are still dying.

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Soon after Peyton’s diagnosis we founded Peyton’s Project.  We were devastated by the diagnosis but decided we were going put our efforts in to making a difference and his life mattered. Our goal is to raise money to fund research for DMD as well as provide quality of life equipment to kids who don’t have the means or access. This is a VERY expensive disease. Their life span may be short but it doesn’t have to be isolating and lonely when there are devices that allow them to participate in life instead of watching from the sidelines. Unfortunately, most families don’t have the means to provide these devices and insurance won’t pay for them.

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When it comes down to it, we are parents.  A Mom and Dad trying to save our son’s life; trying to raise Peyton’s brothers with compassion and understanding without getting lost in the shuffle; trying to work two demanding jobs so we can provide a better quality of life for our boys; trying to make a difference in the life of our child and the lives for all the other families and children affected by this aggressive disease.  Raising money for research and adaptive equipment is just a small way we can give back to the DMD community that embraced us when we were reeling from this diagnosis and continues to embrace us in our journey.

Peyton is a beautiful child with a heart of gold and a smile that lights up a room and leaves an impression on your heart. Once you meet him, you will never forget him. He is worth the fight and we thank you so much for your support!

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www.Peytons-Project.org

https://twitter.com/Peytons_Project

https://www.facebook.com/peytonproject/

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I’ll take Condoms

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Over the summer Peyton and I have been spending a lot of time together in the car.  Anyone who knows Peyton, knows he’s wise beyond his years. Sometimes I have to remind myself he is only 10.  The car seems to be the place he does most of his talking.

A couple weeks ago out of no where he asks me why anyone would want to wear a condom.  I pretty much almost drove the car off the road and wondered why they always ask me these questions?  I had boys-shouldn’t they be asking their father?  Nope-always me, always when I am driving, always when I am the least prepared.  I muttled myself thru an answer of diseases, pregnancy, monogamy, abstinence, love, respect, blah, blah, blah – all the while trying not to throw up.

The next day around the very same stretch of freeway, he asked me why he had Muscular Dystrophy?  Why his DNA was bad? Why he couldn’t run like his friends?  Why he can’t be a normal boy?  Why won’t he grow taller?  Why he can’t eat what he wants?  Why is he gaining weight?  Why is his face so round?  – It was a barrage of questions.  Each one another kick in my gut.

Answers were fleeting.  These are tough conversations no parent should have to have with their child.  No child should have to think about.  As he gets older and more aware of his disease I know there will be more questions, more difficult conversations I am woefully unprepared for.

That night as I was telling Ethan about it I told him – I think I would much rather discuss condoms.

 

Happy New Year

January 2nd is a day we will remember forever.  Not like a birthday. anniversary, holiday or celebration but one that impacted our lives forever.  One year ago today we found out our son has Duchenne Muscular Dystrophy (DMD).  A diagnosis that rocked our world.  Tomorrow our son will receive his first mobility scooter.  (There is a story here with lots of people to thank that I will touch upon later)

  Scooter

Never in our wildest dreams did we think we would have a child with a terminal illness.  Never did we think we would be excited to order a device like the above scooter for our child.  It’s surreal.  He is super excited as we have told him how great this is going to be.  We put a smile on our face and tell ourselves this is for the best and it is.  This will help him preserve his muscles.  This will give him independence.  This will help him keep up with his peers.  This will help him!  It has to!

We are doing the best we can.  We just hope it’s enough for our boy.

Each year for us is a blessing.  We are not complaining.  We have learned so much from this.  We have learned that there are wonderful, caring, thoughtful, compassionate people in this world.  We have learned that our family is a priority.  We have learned not to put off plans for the future.  We have learned that we need to experience life now as tomorrow isn’t promised.

We have learned that a hug is priceless.  This year, for Peyton and all DMD boys, hug your babies, parent’s, friends, co-workers and anyone you love.  You won’t ever regret it.

HAPPY NEW YEAR!!!!!

NEW SCHOOL

first day of school 9.9.13

Once you have a child with a disability your outlook on everything changes.   We have no idea what Peyton’s future looks like.  Really, we have no idea what the future looks like for any of our children but we know for sure that Peyton’s is uncertain.  One thing we really worry about is Peyton being ridiculed or ostracized by other children especially once he begins to transition in to a chair.   While we were treated really well by the elementary school teachers and administration at their prior elementary school, we made the decision this year to change schools.  There were several reasons, some based on curriculum, some on philosophy but for me I had another reason.  Their new school is K-12.  Peyton will not have to transition to a new Jr High or High School at the same time his body may be transitioning.  I didn’t want him to have to explain his “story” at each new school and possibly be bullied or ridiculed by those that haven’t been with him from the beginning and have an established relationship with him.  I realize that this may be a false theory but I need to try to place him in “safe” and “friendly” environments.   Knowing his older and younger brother will also be with him gives me a sense of security.  He also has friends from his previous school.

first day of school 3 9.9.13

first day of school 4 9.9.13

Last week we met with Peyton’s teacher, the IEP coordinator, Principal and nurse to discuss Peyton.  Prior to our meeting I gave them a run down on his condition and personality.  This is an excerpt of that email that explains what we deal with and how challenging it is to moderate the disease with his age and ambition:

He is a SWEET, BEAUTIFUL child with a HEART OF GOLD and a SMILE THAT WILL BRIGHTEN UP A ROOM.  He is also very, very BRIGHT.  He is a perfectionist that gets frustrated easily.  He was put on steroids last March and we have noticed an increase in angry outbursts when he is frustrated.  His 1st grade teacher would have him take a walk to the water fountain or around the flag pole to distract him.  Sometimes he can’t stop.  He’s not mean just upset.  We have also found its worse when his blood sugar drops so he was allowed to have a snack bag in class in case he needed food real quick.  Also, all the meds he takes in the morning make his belly hurt or feel nauseous and a quick snack will help.

Most of all we need to be VERY VERY careful with his muscles and bones.  To look at him you really can’t tell.  He is small but that is about all you notice.  Unfortunately his body is betraying him and basically eating away at the muscles.  Each time he “tears” a muscle (which people do every day just in normal activity) the muscle is replaced by fat instead of regenerating as a healthy muscle would.  He can walk up stairs but he shouldn’t walk down.  It’s the downward motion of stairs, hikes, etc. that cause tears.  He shouldn’t jump, run, or do all those other fun things 7-year-old kids like to do.  It’s extremely tough managing his being a kid and playing with friends and what is best for his body.  Sometimes I allow being a kid to overrule.  We do have to be very cautious of his bones.  The steroids cause them to be more brittle and the disease causes a loss of Vitamin D and Calcium.  If he breaks a body part (falling off equipment) he would need surgery to have a pin put in it (casts are not recommended).  This could also cause the loss of his mobility as healing is more difficult. 

Trust me, it’s all I can do not to put him in a plastic bubble but my husband and I want him to have a “normal” childhood full of friends, laughter, knowledge and experiences he will cherish.  Right now his challenges are not as difficult as they could be or may become but we all need to be knowledgeable on the possibilities.

They were lovely and made us feel very comfortable.  The next day I received a note that Peyton was playing hard during recess and scared them a little.  I like that they are concerned about him.  I can’t say it enough, it’s a struggle…EVERYDAY!  I wrestle with getting him an electric scooter now even though technically he doesn’t need one but to preserve his muscles.  Once the muscle deteriorates, there is no turning back.

So far we do not regret our decision to change schools.  Both the boys are very happy.  Peyton told me how much he LOVES his new school.  We just take each day at a time and PRAY for a miracle.

XO

B

MDA CAMP

Today we took Peyton to his first MDA Camp. We dropped off Bear with Auntie Bev and Uncle Joe so that we would be able to concentrate and soak it all in.

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I am pretty sure it’s more overwhelming for Ethan and me than Peytie or Logan.  We understand the magnitude of what his diagnosis means.  He’s a 7-year-old child and is oblivious…as it should be.

Once we arrived at camp I felt a lump in my throat and sinking in my stomach.  First because I am leaving my child with strangers for a week and second because the reality of what is to come.  After checking in his luggage we met his counselor Maren.  She will be with him the entire time.  She even sleeps in the bunk above his.  She walked us through registration and then through the medical process.  Here Peyton had his temperature checked and hair checked for lice.  Gross but I’m glad they check.  Then we had to go through each pill that he takes and make sure that they had the amounts correct, time of day correct and anything else in relation to this process.  Hope he doesn’t give them as difficult of time that he gives us.  I can’t really blame his as some are awful but again, I understand the repercussions and he doesn’t.

His counselor then walked us to his cabin where he would be staying with 6 or 7 other boys his age.

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We saw some other boys mingling around and they are in all different stages of the disease.  A couple have service dogs and Peytie thought he should bring Potter.  We decided Potter is of service to no one unless it’s cleaning up after meals.

Ethan walked Maren through his stretching routine that must be done every morning and evening.  Since the other kids are probably needing the same Physical Therapy, Peyton shouldn’t protest as much.   We then checked out the mines that are next to his bungalow.

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We knew it was time to leave but pulling away wasn’t easy.  Peyton is going to have a blast.  After seeing the operation and meeting his counselor we felt more comfortable. Peyton hadn’t stopped chatting with Maren since we were introduced.  I told her I hope she likes stories because he has quite the imagination and loves to talk.

The sweetest moment came as we were walking away and Peytie came running back and hugged Logan, then Daddy, then me.

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He turned and walked with Maren to his home away from home for the next week.

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We miss him already.  Sure can’t wait to hear all about it.

Daddy has a special surprise for him Thursday.

XO

PEYTON

Boys 10.12.

I have been wrestling with this for a while now and am finally able to talk to the world about a very personal issue.  Let me start at the beginning.  A year ago we decided to have our middle child evaluated to receive growth hormones.  Little did we know that an innocent blood test would put us on the roller coaster ride of our lives.

March 2012- Blood test.  This was the day my sweet little boy became my hero.  They took 8 viles of blood out of his little body and he didn’t cry or move.   He gave the technicians his million dollar smile and off we went without a care in the world.

April 2012- I receive a call from my husband that Peyton’s test results came back and his liver levels are high and he needs to be retested.

May 2012- He was retested on a Thursday.  Still as adorable and brave as ever.  We received a call the next Thursday that he needed to be retested first thing in the morning.  Now we are nervous as they aren’t telling us anything else.  We retested him on Friday and they told us to be back Monday morning.  Needless to say, that weekend we spent most of our time trying to figure out what could possibly be wrong with his liver.

Monday morning we see the pediatrician who tells us it’s not his liver.  Phew…or so we think.  He tells us that his CK levels are off the charts high.  That indicates a problem with the muscles.  The levels are so high he fears that Peyton’s kidneys will shut down.  The Doctor wasn’t sure if we should see a Neurologist or a Rheumatologist.  He finally sent us to see a Rheumatologist that afternoon.

The Rheumatologist looked at Peyton, made him do some exercises and said “well this is curious.”  He told us to keep an eye on him and come back next week.  We were more confused than ever.  Over the course of that week we saw the Neurologist, who also wasn’t sure what it was and thought he may need a muscle biopsy, a pediatric cardiologist, several ultrasound technicians to evaluate his kidney’s, liver, heart and who knows what else.  The good news is, Peyton was so happy to be hanging with Mommy and Daddy that all the poking and prodding never fazed him.  He just made everyone laugh and charmed them with his smile.  Unfortunately we were still no closer to a diagnosis and terrified of the what if’s.  The internet is a scary place sometimes.

June 2012- Another blood test

July 2012- Another blood test

We decided that a vacation was in order and headed out in our RV for a two-week adventure.  LA to Chicago and back.

Chicago

On our way back into town we decided to get a nice meal in Texas.  Finally some good ol’ BBQ.  My phone rings, it’s a bad connection.  Then Ethan’s rings, its our Neurologist telling us that we need to see a neurologist at UCLA ASAP and that Peyton needs a muscle biopsy.  His CK numbers were even higher.   We both put down our forks, walked out of the restaurant and tried very hard to put on a happy face for our babies.

August 2012 – We had our first appointment at the Clinic at UCLA.  We absolutely love our Doctors and were glad he was transferred to a first class facility but we were completely drained and overwhelmed by the time we left.  This was the first time anyone had confirmed their suspicion of Muscular Dystrophy.  We were told that he definitely doesn’t have Duchenne (the most aggressive form) but most likely Becker MD.  Another blood test and they will see us in September.

September 2012-Back to the clinic where the decision was made to have a muscle biopsy that should definitively give us a diagnosis.

Peyton Batman

October 2012-Muscle Biopsy.  Our little super hero did great.  He wore a Batman costume my co-worker gave me to cheer him up while recovering and being carried out of the hospital.  Everyone was talking, smiling and waving to “Batman.”    We had the Dr. take more muscle than needed in case the test wasn’t conclusive.  Good thing we did…

November 2012-Muscle biopsy testing came back, consistent with Becker MD but not conclusive.  Next step, histo stain of his muscle and genetic testing.  While at work I received a call from one of the Doctors who proceeds to tell me  like this ” Hi, this is Dr so and so and Peyton’s histo stain came back consistent with BMD.  Any questions?”   I was too stunned to speak.

December 2012- Call from clinic to come in and get his genetic testing results.  I politely decline, tell them we are taking our son to Walt Disney World for Christmas and we can wait until January to hear the results.  We are sure he has BMD so when we find out conclusively didn’t seem important.  Surprising Peyton and his brothers with the trip they had been talking about for years did.  Peyton watched documentaries on WDW, knew every ride like he’d been there 100 times and knew exactly what ride he would go on first.  His smile on the Expedition Everest (or Yeti as he calls it) ride was all we needed to know we made the right decision.

BOYS WDW

January 2, 2013- HAPPY NEW YEAR!  Not so much.  We attend our appointment to get our final diagnosis which we already had come to terms with.  As the resident is speaking to us he starts talking about Duchenne MD.  Finally I stop him and ask him what he is talking about.  He decided to actually bring our Dr. in who proceeds to tell us that the genetic testing is conclusive and he has Duchenne Muscular Dystrophy.  That is when the floor came out from under us.  I grill the Doctor about my rudimentary knowledge of MD which is that a shortened strand of dystrophin means BMD and no dystrophin is DMD yet Peyton seems to be producing some dystrophin.  Yep…curious.

To break it all down after the LONG sequence of events-our beautiful middle child has been diagnosed with Duchenne Muscular Dystrophy.   My sister’s reaction said it best.  When I told her that they think he has DMD she told me, “I will call you right back. I need to hang up the phone and throw up.”  Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness and there is no cure…yet!  Good things are happening in the field which I will cover at another time.

So why am I writing about this now in such a public way?  For several reasons.  To raise awareness.  I never know who may know someone who can help us, guide us, support us.  We are his best advocate.

Also, I want to document this journey we are on.  The good and the bad.  We can’t hide from it but we can face it head on with faith, dignity, grace, laughter and love.

The good news is, he is very mild at this point as most kids are diagnosed by about 2. He never had any delay in speech or walking.  We always say he started talking at a year and hasn’t stopped yet.  Also, there is so much research around Duchenne that we hope someday there is a cure, or at least a significant slow down in the degeneration process leading to a longer and higher quality of life.

Everything and nothing has changed. We adore him and the family we have created and will take each day at a time.Peyton is still the happy, funny, charming, sweet, sensitive, loving, adorable, incredibly smart little guy we know and love.  While we don’t hide anything from him, he doesn’t ask much and when he does we put it into words he understands like “your muscles are tired.”  Logan understands a little more and is both his protective and annoying big brother.

We are not looking for sympathy. We are looking for strength, prayer, love and hope for his future.

We have received a tremendous outpouring of support already from family, friends and the clinic.  We appreciate the love that surrounds us.

So next time you see that MDA Shamrock or boot, add some change and say a prayer for Peytie.

XO