- K
Some of you may know Riley personally and the journey he and his family have been on over the past year and a half. Some of you may only know tid-bits here and there from Facebook or a family member or friend. Or, this could be the first you may be hearing our adorable little boy's story.
Riley has been on a rough journey in finding a diagnosis for his extreme hypotonia, epilepsy, and other medical issues. At around 5 months of age, it was becoming obvious that Riley was not meeting his developmental milestones, which is when he first saw his pediatric neurologist; and diagnostic testing started. By 9 months of age, Riley underwent a muscle biopsy, which results showed that he has Congenital Fiber Type 1 Disproportion. This helps explain his hypotonia, but doesn't give us a full diagnosis, what his life will look like, what we can do to help him thrive correctly, etc. By 10 months of age, Riley developed Infantile Spasms, and started one medication that didn't fully work, then went onto a hard core steroid injection over the summer of 2014, which helped defeat the IS completely, but also came with a whole baggage of separate problems.
The biggest being any small progress he had made in PT for the past six months, was thrown out the window and he became an unmotivated "blob". It was like having a newborn again, in a 1 year olds very chunky body. Next, Riley lost the ability to swallow over the summer, which led to a feeding tube in his nose, two long PICU hospitalizations with pneumonia and then surgery to insert the feeding tube directly into his tummy. Riley was finally stable to spend the rest of fall and winter at home and get back to PT, making slow progress. However, recently had another long PICU trip in March. During all 3 of these PICU trips, Riley developed other types of seizures, and has been on a cocktail of epilepsy medications. This last PICU trip was for non-breathing seizures, which were all long and very scary. He ended up on a ventilator for a few days in order to get the seizures to stop, and once he came off it, started the Ketogenic diet, as his meds are no longer doing the trick. He's home again and having much less seizure activity as his body gets use to his new diet. At 21 months of age now, Riley is still significantly behind developmentally. He can’t hold his head up, can’t sit on his own, can’t crawl or walk. Basically he can roll around and has very weak and twitchy muscles. He will continue with PT for as long as it’s needed to try and get to a point of independence, if possible.
Through all the bumps in the road since last spring, we are still searching for answers for Riley, an actual diagnosis that can help us better plan and care for him. A diagnosis that could help us plan his future and ours (whether that means our living situation, future children, etc). At this point, we are waiting on results from mitochondrial tests and if those are negative, we will be moving forward with a full genetic/chromosomal panel.
Between multiple unforeseen hospital trips, a handful of completed genetic tests, and an upcoming full genome, medical expenses pile up fast, and will continue to do so in large quantities. Insurance doesn't consider genetic testing medically necessary, they see it as investigational, and not needed. Easy for a company to say that, but for a parent who needs to have answers to properly care and plan care for their child, it's necessary. Riley doesn't even qualify for governmental assistance because he doesn't have a diagnosis, even though it's obvious he's a kid with special needs, but can't access all the help he could get. Any help that Riley has received to succeed has always been appreciated. All money raised will be used for Riley's continued care and genetic testing to find him the diagnosis we have been searching for, for so long, good or bad.
As parents, and seeing your child experience these things, trying to figure out how to properly provide for him to thrive to his highest potential, isn't easy. The love and support that we have continued to receive has touched our hearts, and we couldn't be more grateful. None of us expected to have such a big fork in the road and be on an up and down path like this with Riley, but when you see and experience his smile and love, we wouldn't have it any other way. We can't thank you enough for your help, support and love for our precious little man.
Riley has been on a rough journey in finding a diagnosis for his extreme hypotonia, epilepsy, and other medical issues. At around 5 months of age, it was becoming obvious that Riley was not meeting his developmental milestones, which is when he first saw his pediatric neurologist; and diagnostic testing started. By 9 months of age, Riley underwent a muscle biopsy, which results showed that he has Congenital Fiber Type 1 Disproportion. This helps explain his hypotonia, but doesn't give us a full diagnosis, what his life will look like, what we can do to help him thrive correctly, etc. By 10 months of age, Riley developed Infantile Spasms, and started one medication that didn't fully work, then went onto a hard core steroid injection over the summer of 2014, which helped defeat the IS completely, but also came with a whole baggage of separate problems.
The biggest being any small progress he had made in PT for the past six months, was thrown out the window and he became an unmotivated "blob". It was like having a newborn again, in a 1 year olds very chunky body. Next, Riley lost the ability to swallow over the summer, which led to a feeding tube in his nose, two long PICU hospitalizations with pneumonia and then surgery to insert the feeding tube directly into his tummy. Riley was finally stable to spend the rest of fall and winter at home and get back to PT, making slow progress. However, recently had another long PICU trip in March. During all 3 of these PICU trips, Riley developed other types of seizures, and has been on a cocktail of epilepsy medications. This last PICU trip was for non-breathing seizures, which were all long and very scary. He ended up on a ventilator for a few days in order to get the seizures to stop, and once he came off it, started the Ketogenic diet, as his meds are no longer doing the trick. He's home again and having much less seizure activity as his body gets use to his new diet. At 21 months of age now, Riley is still significantly behind developmentally. He can’t hold his head up, can’t sit on his own, can’t crawl or walk. Basically he can roll around and has very weak and twitchy muscles. He will continue with PT for as long as it’s needed to try and get to a point of independence, if possible.
Through all the bumps in the road since last spring, we are still searching for answers for Riley, an actual diagnosis that can help us better plan and care for him. A diagnosis that could help us plan his future and ours (whether that means our living situation, future children, etc). At this point, we are waiting on results from mitochondrial tests and if those are negative, we will be moving forward with a full genetic/chromosomal panel.
Between multiple unforeseen hospital trips, a handful of completed genetic tests, and an upcoming full genome, medical expenses pile up fast, and will continue to do so in large quantities. Insurance doesn't consider genetic testing medically necessary, they see it as investigational, and not needed. Easy for a company to say that, but for a parent who needs to have answers to properly care and plan care for their child, it's necessary. Riley doesn't even qualify for governmental assistance because he doesn't have a diagnosis, even though it's obvious he's a kid with special needs, but can't access all the help he could get. Any help that Riley has received to succeed has always been appreciated. All money raised will be used for Riley's continued care and genetic testing to find him the diagnosis we have been searching for, for so long, good or bad.
As parents, and seeing your child experience these things, trying to figure out how to properly provide for him to thrive to his highest potential, isn't easy. The love and support that we have continued to receive has touched our hearts, and we couldn't be more grateful. None of us expected to have such a big fork in the road and be on an up and down path like this with Riley, but when you see and experience his smile and love, we wouldn't have it any other way. We can't thank you enough for your help, support and love for our precious little man.