Thursday, January 14, 2016

New Year

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 “The Lord is 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. 

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