Ninja Warrior's Diagnosis:
Sounds strange.. that is because it is. Nat G is one of the few people documented with this specific mutation. We sometimes talk about this is if it is a diagnosis but we have been told that is not correct. THIS IS NOT A DIAGNOSIS! This is a mutation that gives us a path to go down.
“A mutation in PYROXD1 is known to be a cause of autosomal recessive limb-girdle muscular dystrophy. The affected individual with a homozygous recessive PYROXD1 mutation showed progressive muscle weakness with an onset at the age of 9 years. Initial symptoms included excessive falling while running, with slowly progressive weakness. Difficulty navigating stairs by the age if 18, and loss of ambulation at the age of 37 years.”
As you can see, if this is what Nat is dealing with, it has set in very early on. Her case is considered SEVERE by her doctors. With very little known about this mutation, there is virtually ZERO information available to us…or to anyone, let alone suggestions on what we can do to help her continue to grow and thrive. Also with Natalie showing signs this early it means it is extremely rare, extremely aggressive, or a combination of the two.
Because of the risk of this being aggressive and progressive, we need your help in spreading the word so we can connect with those who can help us help her.
Sounds strange.. that is because it is. Nat G is one of the few people documented with this specific mutation. We sometimes talk about this is if it is a diagnosis but we have been told that is not correct. THIS IS NOT A DIAGNOSIS! This is a mutation that gives us a path to go down.
“A mutation in PYROXD1 is known to be a cause of autosomal recessive limb-girdle muscular dystrophy. The affected individual with a homozygous recessive PYROXD1 mutation showed progressive muscle weakness with an onset at the age of 9 years. Initial symptoms included excessive falling while running, with slowly progressive weakness. Difficulty navigating stairs by the age if 18, and loss of ambulation at the age of 37 years.”
As you can see, if this is what Nat is dealing with, it has set in very early on. Her case is considered SEVERE by her doctors. With very little known about this mutation, there is virtually ZERO information available to us…or to anyone, let alone suggestions on what we can do to help her continue to grow and thrive. Also with Natalie showing signs this early it means it is extremely rare, extremely aggressive, or a combination of the two.
Because of the risk of this being aggressive and progressive, we need your help in spreading the word so we can connect with those who can help us help her.
