February 29th - Rare Disease Day

[Arinna Katal]

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

 

[Alora Sionn]

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]

 

[Idine Espanyas]

Nora Jane Foundation

NJA > NKH

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]

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

 

[Idine Espanyas]

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

Thank you 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.

 

[Idine Espanyas]

As the month draws to a close, I would like to thank everyone who participated in the discussion- especially our friends who shared their experiences of living with a rare disease.

Thank you to everyone who showed support and compassion to our experiences. Please keep supporting your friends.

Tomorrow will be Rare Disease Day. I hope you can make a post on whichever social media you prefer to raise awareness about Rare Disease Day. Please link to rarediseaseday.org to spread the word about these overlooked diseases.

 

[Ahzariel]

Having just joined, I missed most of the discussion in real-time, but I'm actually really glad I'm here. I am currently on my disease diagnosis journey. My money is Lupus, like my aunt had. It's so frustrating when you're going through the process of getting an actual diagnosis because there is so much you don't know about things (and from a healthcare provider's perspective, so many different diagnoses that could fit this symptom or that). I can only imagine the ridiculousness someone with a rare disease would have to go through to be understood and treated.

 

[Aduiavas Ida]

I can only imagine the ridiculousness someone with a rare disease would have to go through to be understood and treated.

Yes, I've met some people who had to have a real fight with their doctors, not just to be taken seriously, but to make the doctor understand that they are in pain.
One of my best friends was told for years that she had a mental illness. She probably have that too. But it took them years to realise that she was in actual physical pain as well. Fibromyalgia, which is a diagnosis that boils down to "We don't know why your body sends pain signals, but it does."
I was so angry on her behalf when she told me that. She had to fight to get disability as she "only" had a mental disease then it turns out that she is depressed and lethargic because she is constantly in pain. The pain wasn't just in her head. I was so mad on her behalf. Still is, really

 

[Idine Espanyas]

Having just joined, I missed most of the discussion in real-time, but I'm actually really glad I'm here. I am currently on my disease diagnosis journey. My money is Lupus, like my aunt had. It's so frustrating when you're going through the process of getting an actual diagnosis because there is so much you don't know about things (and from a healthcare provider's perspective, so many different diagnoses that could fit this symptom or that). I can only imagine the ridiculousness someone with a rare disease would have to go through to be understood and treated.

I hope you can find an answer and a treatment that works (that is also affordable and with few negative side effects).