Friday, September 9, 2016

One pill.....

One pill, white, solitary....

One little pill......

One pill, swallowed down.....

    You wouldn't think this plain, little, white pill would cause such inner turmoil. After all it is needed and will help, but it comes with an enormous amount of self-talk, weighing of pros and cons, debating which decision is right. It causes frustration, anxiety, feelings of despair and of failing. You see this one pill causes more waiting and delay for Bobby.
   The ESSENCE drug trials for exon skipping 53 are finally starting to recruit. One site is recruiting with others scheduled to start recruiting soon. By starting this one pill, Bobby will have to wait at least 14 more weeks before he can be screened for the trial. Bobby's recent visit to Cincinnati Children's revealed that he has signs of mild insulin resistance which can be a side effect of the Deflazacort he is on. This one pill can keep him from becoming insulin resistant and will not effect his eligibility to participate in the drug trial, but he does have to be on a stable dose for 12 weeks before he can be screened. With this drug he has to take a half of the dose for 2 weeks and then if tolerated moves up to the full dose.
   When I started the journey to become Bobby's mommy in 2012, I knew the progression he faced. I knew there would be tough decisions. I knew what was ahead as I knew before he became my son that he had Duchenne. I knew there would be sad times and hard times. I knew I was prepared. Well that is what I told myself. No way can you be prepared for the villianous Duchenne and the tough medical decisions(which we are just at the start of), or for watching your son struggle more and more up the stairs, or for loss of skills such as rising from the ground without help from furniture or another person. I can and will handle it as Bobby and I walk this road together with his sister and brother along side as well.
    I often have such doubt that treatments and a cure will actually come through. We are on day 105 days since the deadline passed for a decision on Eteplirsen from the FDA. No transparency. No decision. No explanation. Just silence.
   But Bobby is not silent! He has hope. After MDA camp he asked what would happen to all those that worked at camp when the drugs fixed his legs and the Muscular Dystrophy was gone. He saw a new power chair and remarked about how fast it was, but that his legs would be fixed and he wouldn't need one!
   We have to keep up the hope that Bobby has. Our DMD community knows that the exon skipping drugs aren't the cure, but maybe they are a tool we need to slow the progression so that our kids are here for the cure in the next few years. Maybe the exon skipping drugs will keep up skills such as walking and daily living skills so our kids can live more independent lives. Bobby believes and so do I!
   So wait we will, but let me clarify that. I WILL wait at least the 14 weeks for Bobby to be able to be eligible for screening for ESSENCE. That does not mean I am willing to wait any longer for the FDA to approve Eteplirsen. Their inability to meet their own deadline and continued radio silence is deafening and unacceptable. In any other job they would have been fired for ineptitude. You see Further Delays= Further Decline.
    So I shed some tears for continued waiting due to my decision for Bobby, but spit fire in anger, annoyance and irritation at the indecision of the FDA!
     These boys count! They deserve a chance. They have families and friends that want them around for a long time.

Afterall, who can look at this face full of pure joy and not have hope?!

Friday, August 26, 2016

A Tough Week

   We made it through a week of appointments at Cincinnati Children's Hospital. Bobby's heart and lungs are stable right now. His overall muscle strength is mostly stable with decline in time to rise from the floor and climbing stairs. At home he no longer attempts to get up off the floor unless he crawls to furniture first and pushes up on it. He was able to get up from a criss cross position on the floor using his hands on the floor and bottom up in the air and actually stood up without pushing on his legs. Dr Wong explained that he had a significant increase in the amount of time it took him to get up that way since February, so that is likely why he uses furniture all the time now. It is simply easier and more efficient for him to do so now. Bobby also walked 450 meters for his 6 minute walk test. He was out of breathe and about to collapse, but was determined to do his best as he knew I needed to know that number in order to determine our next steps for possible drug trials.
   We had a rough start to our appointments with the IV line needed for the heart MRI and then 2 rounds of eye drops. Bobby was a bit over the top. So he and I had a long talk about the drug trial we hope will start soon. I explained that the drug would be by infusion and he would have to get an IV stick once a week. I also explained that he could not react and cry and scream like he had for the MRI iv stick. We discussed whether he wanted to take part in the drug trial or not. He is now 10 and he needs to be a part of this decision. He said that he still wanted to do the drug trial. He said that it would fix his legs so he had to do it. I was honest with him and discussed that the exon skipping drugs could slow, not cure or fix his muscle weakness, and that he would most likely need several different drugs or treatments in order to eventually find the cure for his DMD.
    Today was our last day of appointments. We talked on the way to the hospital again about how he needed to show me that he would be able to do what he would need to do to take part in the drug trial. Today was the glucose intolerance test. He had to have another IV/port put in and this time have it in for 2 hours. He also had to drink the glucose drink and he absolutely hates sicky  sweet things. He said that he could do it, but he did ask if I could talk to him while they stuck the needle in to distract him.
   He was nervous as they began to get things out. The nurse explained that she had to go check on another patient in 4 minutes. She said that if he could be calm she could have him done and started with his drink early or if he wanted she would come back after the other patient. Bobby wanted to be able to get done as fast as possible so he could go see his friends so he chose for her to go ahead. He started to be a tad squirmy but the calmed down with talk about the new cat game he had played and actually watched as she put the needle in. No crying, no screaming, no trying to pull away. He the chugged the drink in about a minute and a half. He was perfect for the whole test as he built with Lego in between blood draws. He was pretty proud of himself and let me know that he could handle to drug trial.
    I asked about the status of the ESSENCE drug trial while with Dr Wong. She stated that the IRB is ongoing and under review. The budget has already been set and so they are just waiting on the review and approval from Sarepta to be able to begin recruitment. The hope is that they will begin recruiting in October. I am hoping that this timeline while come to fruition and that the trial will actually start. Personally I am not convinced Sarepta will begin the trial unless they get a yes from the FDA for Eteplirsen. Since we are moving over the 90 day since the last FDA delay, I am frustrated and angry. We have already been waiting 2 years for this to start and there just continues to be delays.
    All of our trips for the 6 month and 12 month appointments leave me tired. The 7 hour drive to get here and then several days of numerous appointments followed up with the 7 hour drive home is draining. This trip has taken more of a toll. There is a high emotional toll when one has to discuss with their 10 year old what could happen without a drug trial. To discuss the loss of skills that will happen without intervention causes tears to well in both of our eyes. Sometimes it seems too much to process.
     Bobby continues to have a positive outlook. He saw a couple of cool power chairs and said "those are fast. I would like one, but my legs are going to get better and my muscular dystrophy will be gone so I won't need one!" That is definitely my hope to and with so many other positive trials that are upcoming, I think that a cure is close. To get there though, we need the FDA to get off of their butts and do what they are tasked to do. They need to stop stonewalling every Duchenne Drug that comes before them and use the flexibility afforded to them under FDASIA. If they can't and continue to discount patient input and data that shows clinical benefit with no negative side effects then they need to be replaced with people who are willing to handle the task at hand and stop further delays. Delays=Decline. Decline eventually leads to death. We have lost enough of our DMD community due to delay after delay. FDA the time is now to answer and the answer you should be giving is "Yes!"

Monday, April 25, 2016

Cozumel and Pirate Night

April 4, 2016

Today when we woke up we were in Cozumel, Mexico! The weather was not very good and it was very overcast when we looked out. Breakfast this morning was room service as we had to meet our excursion group bright and early to go see the dolphins at Chankanaab Park. At this port we were able to dock so no tender boats today! Bobby used his lighter weight transport wheelchair as it would fold and fit in the taxi van. As we headed out with our group we were all handed brand new Mickey Mouse ponchos as it was pouring when we got off of the ship. The tour operators had given us the option to cancel and get a refund, but we figured we were in swimsuits and would be wet anyway so on we went! We followed our guide over the street to a shopping plaza and a taxi stop where they divided us into smaller groups and sent us on our way in the taxi. It rained the whole way there, but after we arrived it stopped raining! No pictures on this trip there and back, but plenty of our interaction as they had photographers there and of course Beth bought the photo package!

The park is accessible and Bobby was able to ride all the way to the pen area in his chair(which was good as the dock is a bit uneven and he might have tripped and fallen) He did have to descend and then ascend the stairs to the platform. This reporter could not join the interaction as due to my size, the dolphin would have considered me a toy and the thought of being left at the bottom of the ocean just didn't appeal to me!

The waves did create some swells and it was often hard for Beth to keep her balance while also holding onto the straps of each boy's life jackets so they didn't float off into the dolphin pen! Bobby really enjoyed the interaction and David had the time of his life! Take a look at these pictures to see just how much fun they had!

First meet Louis our dolphin friend for this interaction. He loved to jump!

Louis swam by several times for touching and petting and then each person got a chance to interact individually with him.

Here is a picture which shows Beth holding on to Bobby so he doesn't float away. David has a death grip on the fence at this point due to the swells.
Bobby was the second one to volunteer for his individual interaction. He has interacted with dolphins once before so he was very comfortable with doing it again. He did need a little physical help due to the wave swells, but really enjoyed playing with Louis!

David was ready for his turn after watching a couple of other people go after Bobby. He was thrilled and a bit scared all at the same time. He definetly wasn't sure about the kiss thing!

By the time it was Beth's turn Louis had become a bit mischeivious. He thought it might be fun to try to pull her off the platform while she was holding his fins! Luckily she kept her balance! Silly Louis!

Bobby almost floated away again and David kept a tight grip on the fence!

The photographer also took some shots in black and white that turned out very nice!

After a couple of jumps and flips we had to say goodbye to our new dophin friend Louis. What a great interaction!

This reporter did manage to find a safe way to have a picture taken with Louis....
After the crew picked up their photos, it was back to the ship for a quick shower, change of clothes and some lunch! Since the weather was not great they had added another showtime for Zootopia so that was the afternoon activity of choice. After the movie the boys spent a little time in the kids club and then another change of clothes as it was Pirate Night! Before dinner the boys got to meet Peter Pan.
When it was this reporter's turn to meet Peter he asked if I could fly?! He threw me up in the air and said"See she can fly!" Luckily he did catch me! What a thrill to meet Peter Pan himself!

After Peter the boys spotted Daisy Duck in her pirate garb and rushed over for a picture.
The pirate crew then headed to the backdrops for some Pirate Family photos.

Since this cruise had a Star Wars night with a special menu, the Pirate Night menu was not available. While it was missed the food was still scrumptious. The boys enjoyed vanilla smoothies in their special pirate glasses.

The boys weren't interested in the show for the evening as it wasn't a Disney Production and chose to go to the kids club instead of up on deck for the Pirate Party. After a bit it was time to turn in as the next days activities were to include a bit of walking for Bobby. Upon return to the stateroom the crew found a swan awaiting them, but it was dismantled before a picture was taken. 

This is Pirate Super Lu signing off after a very fun filled day! Aaarrgghh matey!