February 29th - Rare Disease Day

Arinna Katal

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Really, just so much love to all of y’all sharing your stories :hug :hug :hug
 

Alora Sionn

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It was very scary and the uncertainty was the scariest part. I still can’t see out of it (functionally blind in that eye) but I still have it so I’m grateful for that lol
 

Idine Espanyas

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Nora Jane Foundation

NJA > NKH
Bvs5bFo.jpg


This week, we’re sharing the story of a fierce little girl who loves jamming out to Metallica and continues to defy the odds every day. Nora was born on July 4, 2016 after a normal pregnancy and delivery. She didn’t cry like many babies, but the nurses assured her parents that some babies don’t cry. More concerning was the fact that she wasn’t eating well and needed to be syringe fed and wouldn’t open her eyes.

After returning home from the hospital, Nora still wasn’t waking up to eat and still wasn’t crying. At the pediatrician’s office, her parents were alarmed to learn that Nora had lost 10% of her body weight. The doctor sent them to a lab for a heel poke test, and Nora didn’t wake up during the heel poke. At this point, Nora’s parents sensed something must be wrong. They took her home, hoping that she would feel better, but Nora still did not wake up to eat. At this point, her desperate parents rushed her to the ER, where doctors began doing every possible test. Doctors sent her lab results to the Mayo Clinic, and the results came back that she had a rare genetic metabolic disorder called Nonketotic Hyperglycinemia, or NKH. Nora was transferred to St. Louis Children’s hospital, where she stayed for six weeks.

Nora’s parents were told many times during those six weeks that she wouldn’t make it; they were given the option several times to make her comfortable and let her pass away peacefully. They decided they wanted Nora to have the most fulfilling life, and Nora is truly a fighter. If you would like to learn more about Nora’s story, please check out the resources below. If you would like to support research and resources for families of NKH patients, please support the Nora Jane Foundation and other foundations below.

What is NKH?

From the National Organization for Rare Disorders:

“Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body’s tissues and fluids. There is a classical form of NKH and a variant form of NKH. The classical form is then further divided into severe disorder or an attenuated form (mild form).”

The classical severe form has a high mortality rate during the neonatal period, and those who survive have severe developmental delays. Patients with the other disorder variants can present developmental delays ranging from mild to profound and often have behavioral issues. Symptoms often depend upon which gene is mutated and even the specific mutation.

There is currently no cure, however there are treatments that can improve outcomes.

For more information about NKH, click here.

Nora Jane Foundation Resources
Nora Jane's Story
Nora Jane Foundation - Facebook
Tik Tok: @norajanefoundation
Instagram: @norajanefoundation
Boler-Parseghian Center for Rare & Neglected Diseases
#nkh #nkhawareness #norajanefoundation
 

Alora Sionn

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:hug all the support to this little one and to the badass parents 💪
 

Idine Espanyas

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:hug all the support to this little one and to the badass parents 💪
Thank you :hug Nora has done so many things the doctors said she never would do. Doctors told her parents that she would never be able to laugh, but they have shared videos of Nora giggling on Facebook.

For people who are local to the St. Louis, MO area there is a fundraising raffle going on right now for a UTV. They also have plans for future fundraisers to celebrate her stepdad’s birthday, and I think they wanted to organize a 5k too.
 
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