NEW updates, "diagnosis", and more for Nat G

THANK YOU SO MUCH. With your help, we’ve been able to help Nat even more than before.

We want to send a BIG thank you to the thousands of individuals who shared this page and even submitted suggestions, ideas, prayers, and more.

Through spreading the word, we have landed on some amazing therapies that have helped Nat grow stronger than we’ve seen AND help her land an official diagnosis.  Although, this diagnosis isn’t considered “good” and will be a difficult journey ahead for our family, we are hopeful that we now have a direction in which to point and a greater context for supporting her.
Through all of your input and our journey these last two months since we first shared this page, we have found three things that have been most helpful – checkout our video for more info.

 

Nat G'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.

We have collected and compiled ALL of Nat G's medical records below to share with all of you. Please click below to see any information on Warrior's health history.


Chronological By Event

See "123" Records

Alphabetically By Specialist

See "ABC" Records

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We would love to hear from you. This journey is sometimes more lonely than we even imagine so any thing you think may help. Please click here to message us directly.

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