36.5 Miles for Camden's 365 Days
Tax deductible
Hi there and thanks for stopping by our fundraising page! On October 4, 2018 I will be running 36.5 miles (36.5 laps around Womble Park) to celebrate Camden's first 365 days of life. This kid is such a fighter and my own personal hero… he has already endured more hours of surgery and more pokes and prods than most adults ever have. Not only has he endured, he has persevered and been tougher than I ever believed was possible! Now that his major surgeries are behind him, Camden can work on developing and growing in all aspects of his life. Many of you have followed Camden's cleft lip and palate journey via social media, but I have been more reserved on his genetic disorders and have not shared that journey. A little background on what this means….
Do you know what it is like, when your child is three weeks old, to be told that he may never walk, may never talk, will probably develop epilepsy, and will experience some form of learning delay whether it be mild to profound? We do. I remember that day so clearly no matter how badly I would like to forget it. We had already come to terms with Camden's cleft lip and palate and all of the future obstacles that may present themselves, but this prognosis seemed too surreal. Birth defect? Genetic mutation?? Nope, not this family, you've got the wrong one this time, God, this can't possibly be happening to us. Our Camden, our third little perfect child, he had a genetic microdeletion and he was missing over 4 million genes. It took me over three months of denial and just pushing it out of my head before I could look at the paperwork that the geneticist handed to us after shattering our world. It wasn't until then that I started my research on STXBP1 (one critical gene included in his deletion) and what this diagnosis would mean for Camden and our family. Any special needs parent knows that their child "can be anywhere on the spectrum" and you hope and you pray that they are on the "good end" and you sign them up for every damn therapy you possibly can.
STXBP1 is responsible for relaying signals between neurons and is critical for normal brain function. A mutation in this gene is known to cause epilepsy, global delays, mild to profound cognitive impairment, autism, movement disorders, cerebral palsy, and the list goes on and on. Needless to say, it is a very important gene that he is entirely lacking. At this point, Camden has not yet had any seizures, although repeat EEGs have showed that he has multi focal discharges in the temporal lobes of his brain. These discharges could manifest themselves into seizures at any point so we remain on high alert. Camden is considered severely to moderately delayed right now and is receiving PT, OT and ST to try to bridge the gap and continue moving forward.
We know where we currently are on the spectrum, but what if the actual spectrum could be modified?? What if there was something out there that could help all of our STXBP1 kids replicate this crucial gene that they are lacking?? It is certainly an exciting time in the world of gene therapy and with the first RNA drug to treat a rare disease recently being approved by the FDA, we don't want to be left behind! Families affected by this STXBP1 disorder have set up a nonprofit foundation "focused on advocacy, driving research, and providing our families and their physicians with information and resources" which you can see here: http://stxdisorders.org/ . 110% of all funds I raise will go to this foundation to further their mission and keep STXBP1 research moving forward.
Why run? Running may seem a bit silly and not directly related to Camden's prognosis, but its all I know to do. On the brightest days and on the darkest days, to clear my mind or to clear my tears… whenever I can. I run. I run. I run. Unfortunately my background is in accounting and not gene research, so for the time being, this is what I can do to raise awareness surrounding this disorder. I'm not sure what my next move will be, but if you know me, you know I'll be damned if I take a sideline seat to a prognosis like this. I will fight every last fight I can for Camden.
Camden, you are loved SO much my little fighter!! Mommy will not rest until you can run into my arms saying "I love you," until you can sing The Greatest Showman soundtrack with Clara, until you can wrestle with Ralston (we'll talk to him about being gentle) and until you can kick the soccer ball with Daddy. Let's do this, son, we've got our work cut out for us!
Do you know what it is like, when your child is three weeks old, to be told that he may never walk, may never talk, will probably develop epilepsy, and will experience some form of learning delay whether it be mild to profound? We do. I remember that day so clearly no matter how badly I would like to forget it. We had already come to terms with Camden's cleft lip and palate and all of the future obstacles that may present themselves, but this prognosis seemed too surreal. Birth defect? Genetic mutation?? Nope, not this family, you've got the wrong one this time, God, this can't possibly be happening to us. Our Camden, our third little perfect child, he had a genetic microdeletion and he was missing over 4 million genes. It took me over three months of denial and just pushing it out of my head before I could look at the paperwork that the geneticist handed to us after shattering our world. It wasn't until then that I started my research on STXBP1 (one critical gene included in his deletion) and what this diagnosis would mean for Camden and our family. Any special needs parent knows that their child "can be anywhere on the spectrum" and you hope and you pray that they are on the "good end" and you sign them up for every damn therapy you possibly can.
STXBP1 is responsible for relaying signals between neurons and is critical for normal brain function. A mutation in this gene is known to cause epilepsy, global delays, mild to profound cognitive impairment, autism, movement disorders, cerebral palsy, and the list goes on and on. Needless to say, it is a very important gene that he is entirely lacking. At this point, Camden has not yet had any seizures, although repeat EEGs have showed that he has multi focal discharges in the temporal lobes of his brain. These discharges could manifest themselves into seizures at any point so we remain on high alert. Camden is considered severely to moderately delayed right now and is receiving PT, OT and ST to try to bridge the gap and continue moving forward.
We know where we currently are on the spectrum, but what if the actual spectrum could be modified?? What if there was something out there that could help all of our STXBP1 kids replicate this crucial gene that they are lacking?? It is certainly an exciting time in the world of gene therapy and with the first RNA drug to treat a rare disease recently being approved by the FDA, we don't want to be left behind! Families affected by this STXBP1 disorder have set up a nonprofit foundation "focused on advocacy, driving research, and providing our families and their physicians with information and resources" which you can see here: http://stxdisorders.org/ . 110% of all funds I raise will go to this foundation to further their mission and keep STXBP1 research moving forward.
Why run? Running may seem a bit silly and not directly related to Camden's prognosis, but its all I know to do. On the brightest days and on the darkest days, to clear my mind or to clear my tears… whenever I can. I run. I run. I run. Unfortunately my background is in accounting and not gene research, so for the time being, this is what I can do to raise awareness surrounding this disorder. I'm not sure what my next move will be, but if you know me, you know I'll be damned if I take a sideline seat to a prognosis like this. I will fight every last fight I can for Camden.
Camden, you are loved SO much my little fighter!! Mommy will not rest until you can run into my arms saying "I love you," until you can sing The Greatest Showman soundtrack with Clara, until you can wrestle with Ralston (we'll talk to him about being gentle) and until you can kick the soccer ball with Daddy. Let's do this, son, we've got our work cut out for us!
Organizer
Heather Jones
Organizer
Apex, NC
STXBP1 Foundation (STXBP1 Disorders)
Registered nonprofit
Donations are typically 100% tax deductible in the US.
