Time to raise some $ for DMD

Hi friends,

The next chapter of our journey is to raise money for kids with DMD.  They deserve a quality of life to live as independently as possible.  What better way than to enjoy the outdoors with their friends and family?  We want to provide all terrain action trackers to as many boys as possible.  At $20K each it’s going to take a village but I know we can do it!

Additional fundraising events being planned.  Stay tuned.

Hugs

http://www.gofundme.com/6m9avg

(link to donate)

Peyton’s a Mutant?

Our last clinic visit was May 3rd.  We left there completely numb.  It’s taken me a while process the information.  We were coming off such a high.  Our families, friends and co-workers rallied behind us to get the 100,000 signatures needed for the government to take us seriously.  That campaign ultimately led to the FDA working with Sarepta to reinstate the Exon 51 Skipping Clinical Trial.

A boy stole my heart

We were actually excited for our appointment at the clinic.  We were going to ask a million questions to see how Peyton could be part of this trial.  We knew from his diagnosis that he was eligible.

Insert squealing brakes with smoke flying from the tires here….

Nothing with this disease goes as planned.  Let me backtrack for just a second and give you a quick and very rudimentary lesson in genetics.  In our community we talk about Mutations…”what mutation is your son..”  It’s kind of how we connect.  Well Peyton’s mutation is a deletion of Exon 45-50.  The very first clinical trial that is making a difference in DMD kids is Exon 51 skipping. Basically the drug “skips” exon 51 so that in Peyton’s case, Exon 44 attaches to exon 52.  All I know is that your exons have to remain in groups of 3 so the tail of one has to connect to the head of the other, hence 44 and 52. This is how I understand it.

When we met with our Doctors to discuss treatment they were very perplexed.  It seems that Peyton’s DNA and RNA are not matching up.  His DNA (according to the genetic testing) states that he is missing exons 45-50.  Classic DMD and not Becker Muscular Dystrophy as we had believed.   We couldn’t understand why all along it seemed he was producing Dystrophin so we had our clinic at UCLA test a piece of extra muscle we had removed during his biopsy.  Seems that this test showed a different exon sequencing in his RNA.  This showed that his RNA (not DNA) was expressing dystrophin in exon 1-44…ok…that in itself wasn’t a huge deal but what came next was.  Exon 44 was connected to a RANDOM exon.  An unidentified exon.  What does that mean?  Well a lot.  Scientifically a lot more to the Doctors that it did to us.  All we heard was that Exon 51 skipping might not work as Exon 44 is ALREADY ATTACHED to an exon.  The random would have to be removed then 51 skipped for exon 51 skipping to work on him.  Ethan and I are realistic enough to know that was not going to be high on the list of drug company priorities.  What is more, if this is the case, Peyton would be the only person in the world with this genetic mutation.

The only thing I could say to the Doctors was “well, if he’s going to have a rare disease, it might as well be really rare.”

All Logan heard was mutation and asked if Peyton was a mutant.  Leave it to the older brother.  I told him that wasn’t nice and he told me ” No Mommy, in a good way, like Wolverine.”

Wolverine

Now, we also know this might be the reason he seems so mild.

We made the decision to have his DNA and RNA tested again through both the lab in Utah and UCLA.  So after our poor boy had already given 5 viles of blood, he gave 4 more.  2 for Utah 2 for UCLA.  My brave, brave boy!

Clinic Blood Draw

And we wait…

(note: we got some of the results today but we need further analysis and I am not ready to share quite yet.  It always takes me a bit to process the information. )

As always, thank you for your continued support.

Big Hugs!

Hike to Half-Dome

On May 29th, 2014, a group of us set out on the adventure and experience of a lifetime.  All to make sure an 8-year old boy with Duchenne Muscular Dystrophy could make memories that will last a lifetime.  I’m pretty sure we were all more moved than he was as we understood the enormity of what we accomplished.

Top of Half Dome

Top of Half Dome

Let me digress and start at the beginning of this adventure.  After finding out Peyton had DMD we started creating his bucket list.  A few items were added by us as we have more life experience.  My husband added Half-Dome.  I added Eiffel Tower…you can see how we differ in our choices.

I give Ethan all the glory on this one.  He researched everything that we would need to accomplish this goal.  When we were awarded the permits to hike on the 29th I tried to talk both of them out of it.  Peyton really and truly wanted to go to the top.  So I relented and started training.  As much training as you can do in 2 weeks.  I needed about 2 more months.

Ethan assembled a team to help us.  Really, everyone who joined us didn’t need any convincing, they were more than willing to help but more than that, WANTED to be there with us.  Our team consisted of Ethan, myself, our 10-year old son Logan (that is an entirely different story but he deserves Big Brother of the year), Ethan’s BFF from high school Jesse and his daughter Coco,  Ethan’s partners John, Jeff, Jim & Mike and John’s wife Lindsay.  Not part of the hike, but part of our success were Phillip who watched John & Lindsay’s kids back at camp and Julie who watched our other son Bear back at home.  Those jobs were not easy either but knowing our kids were safe and happy allowed us to focus on our goal. Jim and Mike came up to see us off and help get us settled at night and packed in the morning.  That was super helpful and provided comic relief

We arrived in Yosemite Wednesday evening in time to check in to our lovely tent cabin, carbo load on some pizza and get to bed.  We woke up at 5:30am to be ready to begin our hike at 6am.  We finally left Curry Village around 6:20am.  We didn’t see Curry Village again until 8pm.  In between was some of the most breathtaking scenery, exhilarating moments and intense pain.  We hiked over 17 miles gaining in elevation  over 5,000 feet.  The hike was brutiful.

Peyton was carried the entire time in a back pack that could accommodate his weight.  We were up against the clock on this as once he hits 60lbs he can no longer be carried in the back pack.  This was our one chance.  Each person, except for Logan, Coco and myself, took turns carrying Peyton to the base of half dome.

At one point Logan and I were separated from the group.  We had been climbing for hours and still had a couple to go.  Logan was fading.  He told me the air was getting thin and he felt like he was going to pass out.  I told him to stay with me and fed him fruit snacks and water.  We walked slow and stopped a lot.  We talked to people along the way that were passing us on the way up and down.  I asked a group coming down if they had seen a man carrying a baby on his back.  Logan corrected me and said he isn’t a baby.  (He’s my baby!)  They said they were about 25 to 30 minutes ahead.  I was pretty sure we were never catching up.  Then another group passed us about 15 minutes later and said they had a message for me.  My group was at the bottom of sub dome.  They left them 15 minutes ago and they might still be there.

When we finally came around the corner at the base of the sub dome and saw our group, it was like a vision.  I couldn’t believe we caught up.  Logan seemed to get his second wind as we climbed the sub dome.  This part was a little harrowing as it’s granite “steps” that are jagged, tiny, tall and winding without any railings.  John had Peyton on his back but the others were holding the backpack from behind to keep him steady or guiding from the front.  We had put Peyton’s helmet on during our hike up the falls in case anyone slipped.  Have to protect our little man!  As we were getting close to the top John told Peyton that he was happy to carry him and he was worth it, then Lindsay told Peyton he was more than worth it.  I almost lost it.  Tears were gathering on the backs of my glasses.  Our friends took time away from work and their own families to carry our child on the grueling trail, never complaining once.  They provided us the support, strength and humor needed to complete the challenge.  We will be forever grateful.

Top Of Sub Dome

Top Of Sub Dome

Once at the top of sub dome the only thing left to do was climb the 400ft cable to the top.  Ethan was back on deck to carry his son to the top.  This was really their journey.  A Dad who loves his children so much, he would literally climb to the top of a mountain for any one of them.  As we were preparing the gear to get Peyton up the mountain, Logan decided to stay behind.  He actually has a fear of heights.  I still don’t know where that comes from but he does and he was very freaked out.  We didn’t push him.  We were so proud of how far he had come.  Making him do something that is dangerous for adults didn’t seem like a good plan for an already scared child.  Once I was on the cables, I knew we made a good choice.  I was terrified.

Ethan and his friends made the climb look easy even though it was incredibly difficult.  Peyton was strapped into the backpack tightly so he couldn’t slip out.  Ethan had on a harness with ropes and carabiners attached.  He was then attached to both John and Jeff who went ahead of him.  They were there to help steady him and even pull a little if needed.  Jesse was behind him and helped steady from behind.  He was critical to the success as Ethan was unable to really move the carabiners as they climbed and Jesse was moving them for him.  Ethan was concentrating on holding on.

Climbing Half Dome

Climbing Half Dome

Coco and Lindsay went up before all of us and I brought up the rear.  The people way ahead of us kept stopping which made us have to stop.  This is where it’s really terrifying.  Hanging onto cables on a steep, steep, slippery hill.  I was completely freaked out but held it together.  I looked around once, got vertigo and didn’t do that again.  Kept my head down and pulled myself up until I got to the top.  Had the people in front of us not stopped so much we would have made it in 15-20 minutes instead of the 30 it took.

Watching Ethan and our son make their way up was completely nerve-racking. It took so much strength, courage and control to make it up and down.  I know Ethan would NEVER put our kids in danger and would do anything possible to keep them safe.  He thought all this through from start to finish.  I knew if anyone would make it safely it was him.  Still, these are 2 people I love, one I gave birth to.  I held my breath a little on the ascent and descent.

Once we got to the top we let Peyton run around.  He was so excited.  I am pretty sure he is the only child ever with DMD to walk on the top of Half Dome.  It’s an impossibility for most and yet there he was.  Smiling so big, making snow angels in the patch of snow left over from winter.  These are moments I will treasure forever.  I am pretty sure no on will ever forget what we did and the exhilaration we felt getting not just him but ourselves to the top. When Ethan and I took a moment to soak in the moment, it was his turn to get a little emotional.  We did it.

Almost there

Almost there

Now we just had to get down.  Although people were saying how easy the down was compared to the up, I did not find that to be true.  I held on with a death grip as not to tumble-down the mountain and off into an abyss.  The boys switched their order and did the same maneuver on the way down.  Peyton smiling the entire time.

We all felt incredible until we had to endure another 4 hours of walking down the hill.  Everything hurt.  By the time we arrived back at camp it was getting dark.  We were all exhausted and hungry.  Logan was delirious.  He could barely eat and fell asleep in the car within 2 minutes.  We were so proud of him.  That is a major accomplishment for a child and he made it.  Some of our friends are in great shape and even they agreed this was the most difficult thing they have ever done.  I am actually glad I was so naive to the what to expect.  Knowing what I know now I do not think I will ever do it again.  Someone told me that I can now cross off my bucket list.  I said I will add it to my bucket list then cross off.

I am so thrilled for Peyton.  Someday he will understand how special he is that people came together to make this dream a reality.  Logan learned a lesson in humanity.  He also knows how strong he really is now.  He needed that confidence.

Ethan was a true leader.  Jesse, Jeff, John, Lindsay and Coco will forever hold a special place in my heart.  I can never repay them for what they did.  My body may never forgive me for what I did.

My little sugar cookie

We finally made the decision to get Peyton a motorized scooter.  While he looks great on the outside, we know all too well that his muscles continue to break down on a daily basis.  At what rate we can’t be sure.  We’ve been told one day he may just stop walking.  A broken bone could end his mobility sooner.  Our position is to preserve his muscles the best we can, while allowing him to be an “active” 8-year-old boy.  The line is blurry but we are trying our best to make good decisions on his behalf.

Common sense tells us that when a muscle is weak we need to exercise more and lift weights to strengthen that muscle.  In Peyton’s case, that is the worst thing to do.  We must preserve his muscles through limited motion.  Every tear he gets in his muscles, no matter how small, turns to fat.  A healthy muscle regenerates while we sleep, his do not.  Once his muscle breaks down, there is no repairing.

The electric scooter is a way for us to preserve the muscles by limiting his need to walk.  No matter how short the distance.  We had another motive as well.  We felt that by introducing the scooter at such a young age, the kids that he will grow up with will be used to the scooter and or wheelchair when it becomes an absolute necessity.  Typically the transition stage begins around Jr. High.  Jr. High is a time kids are trying to assert their independence, come into their own.  We didn’t think this was the best time to introduce a scooter or wheelchair.  I remember the awkwardness of Jr high.  Most of us were worried about zits and braces, imagine worrying about falling all the time and introducing a wheelchair.

We worked with the MDA and school to plan a day to present the scooter and talk about Muscular Dystrophy,  In addition, the school created a team to walk for Peyton in the MDA muscle walk.  This was going to be unveiled the same day.   Side note, over 100 kids will be walking with Peyton on March 1st. They named the team Peyton’s Pals.  The show of solidarity is overwhelming and humbling.

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Jenn and Megan from the MDA did a great job explaining Muscular Dystrophy to the 2nd grade in terms they could understand.  The entire show and tell was about making chocolate chip cookies but they didn’t have the chocolate chips.  Peyton is like that.  His body doesn’t have the chocolate chips but he’s still a delicious sugar cookie.  At one point Peyton chimes in “I’m not a chocolate chip cookie, I’m just a sugar cookie.”  Precious boy.  Another side note: Soft gooey sugar cookies are my favorite and I craved them when I pregnant with him.  Coincidence?

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When it came time for the unveiling, Logan, always by his little brother’s side, made sure he made a grand entrance.  The kids were in awe of Peyton’s ride.  I was so impressed by all the kids and the questions they asked.  They love Peyton and think that his new scooter is cool.  I just hope they continue to think that way as the year’s progress.

We hope that the decisions we make are helping Peyton but in truth, we don’t really know.  We are just doing the best we can with our delicious Sugar Cookie!

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XO

B

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!!!!!

Peyton’s Boo Boo

I was in the car heading to a meeting when I got the call.  Peyton fell down the stairs at school and hurt his elbow. They didn’t think it was broken.  Phrases like that send terror into the heart of a DMD parent.  Our kids don’t heal like others.  Breaking a body part can end their movement in that area.  We are especially concerned with the legs as this could cause him to enter the wheelchair phase early.  We are told that DMD boys should not be put in a cast but have a pin inserted if there is ever a break.  That requires anesthesia which could also be harmful because of the lung capacity.  I am still unclear on all the rules/suggestions so it’s even more terrifying.

My first question to the nurse was “why was he running down stairs?”  She said “I knew you were going to ask me that.”  Stairs are a no-no for him.  He knows that but as I told the nurse – “He is 7 and doesn’t always make good choices.”  I spoke to Peyton and hearing his voice always gives me relief.   He told me later he was embarrassed when he fell.  Breaks my heart because that won’t be the last time.   I had the nurse ice it and call me back in 30 minutes.

He turned out to be fine but I am always so scared when the nurse calls.  This disease is a ticking time bomb.   The symptoms can be subtle or come on like a freight train.  I am so unprepared.

The nurse and teacher told him that he shouldn’t be playing on the stairs.  I told the nurse not to make it sound like he is in trouble.  Again, he is 7 and wants to play.  I can’t blame him.  This disease is going to take so much from him.  I don’t want him to feel like he did something wrong.  He didn’t.  I didn’t…but It’s difficult for me to process that the baby I nurtured and gave life to is going to suffer.

He showed me his Boo Boo when I got home.

BooBoo

I think he will be fine..this time.  Not sure I will ever be fine again…until they can cure my baby.

XO