We hope you all had a wonderful holiday season and are enjoying the start of this new year! We enjoyed it all - giant tree (13'), presents, family, food, NYE, Star Wars, and back to school... There were actual tears shed in our house over the return to school. We are easing back into the routine and seem to be adjusting just fine.
Many of you have messaged me in one way or another in regards to the exciting new research involving CRISPR . The CRISPR research is amazing and it does give some hope to all boys dealing with Duchenne. Duke Report
As with so many things in life, living with DuchenneMD seems to be a "hurry up and wait" scenario. For the most part, I have set aside thoughts of exon skipping because Josiah is not eligible. But as CRISPR kept popping up more and more, I started hoping that maybe this was different...
Hope is a curious thing. Just the tiniest glimmer can give you something to hold on to, while at the same time, it often seems like setting yourself up for a fall. Knowing that Josiah's mutation is extremely rare, and that his dystrophin gene mutation is in a crucial portion of the gene, this benefiting him directly is a long shot. I talked with his neurologist, who in turn talked with one of the doctors working on this project. The reply from the doctor/researcher at Duke who is involved in CRISPR was:
This is complicated and the honest answer is I am not sure. With AON [exon skipping], it might be possible to skip either 69 or 71-75 to get the gene back in frame, but I don’t know much about the function of the protein in that region and how essential it is. Same goes for gene editing [CRISPR], although it might be possible to just remove the splice site mutation. Regardless, I am not aware of anyone working on this part of the gene and it will be many years before anything would be available.
Life is full of disappointments whether you opt for hope or not. Sometimes it seems like avoiding "getting your hopes up" would be the wisest course, but there is no life in living that way. That being said, this is tough. It really is; but we continue on, knowing that "sufficient for the day is its own trouble". Trying to handle tomorrow's grief and heartache today simply doesn't work. So we cling to our Hope - “TheLordis my portion,” says my soul,“therefore I will hope in him"(Lamentations 3:24). And we are thankful that today, Josiah is still mobile. He can still walk, talk, feed himself, draw and color, play with his toys, and build new things with Legos. We are not blind to what the future holds, but we are not dwelling there.
Josiah continues to go to Duke for his infusions (drug study) every four weeks. The Valvano Day Hospital (click for more info) is an amazing place. The room is bright and there are movies, games, toys, and an art table to help children pass the time for the duration of whatever type of infusion they are receiving. Josiah loves art and crafts projects, and he always enjoys the things the volunteer has ready for him to create! If you want to read more about the drug trial, you can read more here: Pfizer
One super fun thing we are looking forward to is Josiah's Make A Wish Disney Cruise! We are thrilled that some family and friends are able to join us. The boys check the "countdown to cruise" app every day. For continued updates, please follow the blog and/or the Facebook page.
You guys... I really don't love blogging. I want to love blogging. I just don't. However --- I am committed to trying to keep updates about Josiah and our family at least somewhat current, so if this post if it reads more like a list instead of a well crafted wealth of words and feelings you know why. ;-) Things still seem pretty much the same. For all intents and purposes, Josiah seems to still be in relatively the same "shape" as he has been for the past year. That being said, it is on our minds and hearts that within the next few years we will need to do some remodeling to make our home handicap accessible. We are all looking forward to Josiah's Make-A-Wish trip. His wish is for a Disney Cruise and we expect to hear from them very soon with info on our trip! One new item, Josiah has qualified to participate in a drug trial (click here for more info about the trial). Last month we went to Duke for two days of evaluations. This included PT eval, blood work, an EKG, 3 MRIs, and a DXA scan. He was so amazing during all of this testing! This week he starts the actual trial. Every four weeks he will go to Duke for an infusion. The infusion itself will last about an hour, and there is blood work drawn before, right after, and five hours post infusion. All of that will equal one long day in Durham! This is a double blind study, meaning that all the info is coded and no one knows if he is getting a placebo, small dose of the drug, or larger dose of the drug. If he is getting the placebo, part way through they switch those particpants over to the actual medication. The study is set to run for 2 years. In particular, we appreciate your prayers for Josiah as he starts this drug study. Thank you all for your love and support!
We went to Duke this week for a check in visit. No changes to medications, therapies, etc at this point. They did an xray of his back to keep track of his spine and watch for scoliosis. Dr Smith did add a few new appointments for Josiah. He will be seeing an orthopedist and an endocrinologist in the coming months. These are standard proceedure for Duchenne patients. Also, we are looking into setting up the screening appointments to see if Josiah will qualify for a current drug trial study at Duke.
Last month, Josiah's school held their annual field day. This year, it was in honor of Josiah and to raise money for Parent Project Muscular Dystrophy. I knew that people did various fundraisers to help raise money for Duchenne research; I just didn't feel like I was at that place just yet. I was processing the diagnosis, handling doctors appointments, therapy appointments, medications, etc, but when Coach Davis asked if they could do this year's run in honor of Josiah, of course we said "yes!"
What happened next is that the run gave extended friends and family the opportunity to join with us and show their support for us. I hadn't taken the time to consider that other people (even Bennett) needed an outlet to be able to feel connected to Josiah on this journey. Bennett and his sister, Deanne, sent emails and contacted friends, collegues, etc. Students at the Piedmont School got sponsors for their laps. Friends sent donations. Through all these avenues, we raised over $10,000 to help fund Duchenne Muscular Dystrophy research. This money goes directly to Duchenne's research, as opposed to the more general MDA, which funds various types of muscular dystrophy research.
In addition to all of the students and teachers, we had 30+ friends and family come out to join us, and many more were there in spirit.
When preparing for the run, I had reached out to someone at Run For Our Sons (the run fundraising arm of PPMD). After the run she contacted me again to express how thrilled they were with the success of the run. She said that if we would like to make this a yearly thing, they can help with getting that set up, resources, etc - so don't be surprised when you hear about the Second Annual Jog For Josiah! Our thoughts are to make it a regular 5k (possible also a 10k) and hold it on a Saturday next year. We hope you can join us!
Last September, Bennett and I both saw a poster for a run in Greensboro called Miles For Matthew to benefit Duchenne research. At that time, we knew Duchenne was a possiblity, but we had not even been to Duke yet. We tucked that piece of information away in our hearts and continued on through thte next few months.
Recently I looked up the run and contacted Matthew's mom. It turns out that Matthew and Josiah are only a day apart in age and were born at the same hospital! Matthew was diagnosed much earlier than Josiah. It is no surprise that having someone nearby, who has been walking this road for a while before us, was comforting, and we hope to be able to meet in person sometime this summer.
Please consider joining this September at the Miles For Matthew run!
Spring is finally here and it is glorious. Ball games and green grass and pollen...that last one isn't so glorious ;-)
We have the Jog for Josiah today. Already over $7,000 has been donated for Parent Project Muscular Dystrophy thanks to our wonderful friends, family, colleagues, etc. Everyone has been so generous! The weather is perfect, and we look forward to today's event!
We have been working on adjusting to the night orthotics. One foot seems to bother him more than the other one, but we have a plan to try and locate the issue and correct it as best we can. :)
Josiah has started Aqua therapy once a week, and he really enjoys it. He doesn't love the stretching, but he loves being in the water. His therapist is so sweet and works with him amazingly well.
Part of my reason for blogging, and blogging with a fair amount of detail, is to remember - so that I don't forget all the "little" things along the way. Already some of the timeline from last fall isn't as clear in my memory, but I know I have it written down, and God is faithful. He continues to meet us at each step along the way.
