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Madison

Madison

February 2020

"Our daughter, Madison Ruby Greene was diagnosed with BPAN (Beta-propeller Protein-Associated Neurodegeneration, an NBIA Disorder (Neurodegeneration with Brain Iron Accumulation), on September 16, 2015 at the age of 3 years old. She is 7 1/2 years old now.

Madison was born on July 30, 2012 to Jennifer & Brian Greene, big brother Gavin & now her little brother, Mason.

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Sophia

Sophia

February 2020

"Sophia, who is now 13 years old, had grown tired and frustrated having to endure the 82-mile round trip into the Texas Medical Center for frequent blood draws, visits and testing. She had not been diagnosed at the time and we were desperately searching for answers that could explain the source of her severe cognitive delays, worsening physical symptoms and increased seizure activity.

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Patricia

Patricia

February 2020

"I just found 6 months ago that I have Neuroferritinopathy (an adult onset NBIA disease). All the symptoms were there about -5 years ago, I guess. For years I've had bad chorea of upper body and neck and worsening all the time for years speech and swallowing problems too.

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Clayton

Clayton

February 2020

"Clayton was born in 2017 from Hong Kong. In August 2017, I found that Clayton was slower than children of the same age. Later, I discovered that Clayton had more problems, I was so lost at that time, I could only shout secretly in the middle of the night, I knew I couldn't do it.

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Gráinne

Gráinne

February 2020

"Gráinne is our only child. She is now 10 years old. The first time we suspected anything was when she was about two years old and a developmental check indicated she didn't have as many words as she should have. We thought nothing more of it as the nurse wasn't overly concerned.

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Everett

Everett

February 2020

"Our NBIA story began with a BPAN diagnosis for our oldest son, Everett in 2013. Everett was not meeting his developmental milestones and eventually started having physical signs of complex seizure disorder. For more than two years we thought Everett was only ten in the whole world with this diagnosis.

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Malachi

Malachi

February 2020

"My son Malachi was born April 28, 2016 he was a happy baby boy. He was cruising around couches, sitting up by himself , playing and talking. At 14 months Malachi was not able to do those things anymore.

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Elijiah

Elijiah

February 2020

"This is Elijah McBurney. He was diagnosed with BPAN when he was 19 years old. He is now 23. He began his life quite normally, reaching his milestones on time his first year. He was walking at 13 months and just slightly behind in his language skills at that point.

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Naila

Naila

February 2020

"Naila is someone who will love you, no matter who or what you are. And, just in second or two - the magic is on you, because you are in love with her too. Her favorite color is blue, favorite animal - dog/husky and dearest toy - Pikachu.

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Barbara

Barbara

February 2020

"Our daughter Barbara Claire started slowing down at the age of 29. 9 months later she gave birth to Lawrence, who is now 4 years old. At first, she was still driving and could take him to toddler groups and the park.

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Kinsley

Kinsley

February 2020

"Our story began when our daughter was around 7 months of age when she stopped hitting milestones. Our pediatrician said give it time. She’s just going at her own pace. As each month passed, we became more and more worried. Our pediatrician finally agreed with us that she was indeed behind.

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Kimberly

Kimberly

February 2020

"Kimberly is 33 years old and has idiopathic NBIA. She has been tested for every form of NBIA, had whole exome done multiple times, along with mitochondrial genetic testing and other tests to try and find the gene causing her disease. She may be the only one in the world with her form of NBIA - making her one of the rarest of the rare!

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Matias

Matias

February 2020

"My sweet handsome son Matias was diagnosed at age 2 after he regressed and wasn’t able to crawl walk and talk it took a lot of blood test and genetic testing to finally get the answers of what was going on with our son! He is now 9 1/2 years old and over time now has a feeding tube as well as a tracheostomy and scoliosis!

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Julieta

Julieta

February 2020

"When Julieta arrived in Montevideo, Uruguay on September 24, 2001; I was 23 years old. Her father and I had been together for five years and she made us so happy! When Julieta was 15 months old, we started to notice unexplainable changes in her.

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Juliana

Juliana

February 2020

"Juliana is 17 now. She began to have uncontrollable body movements around toddlerhood. We went to many doctors, hospitals, & widely respected movement specialist. Along the way she was diagnosed with Asperger’s & Bipolar. Every single doctor said that she did not fit any movement disorder they had seen.

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Tonja

Tonja

February 2020

"I met Tonja (she has NBIA PKAN) four years ago when she came with her mother to the swimming therapy-Halliwick. She was very exciting and of course me too.

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Josie

Josie

February 2020

"I was three years old when my sister, Josie, was born. After a year it became clear that she wasn’t reaching milestones that most babies do. Her favorite word was, “eee” which meant anything from she wanted something to a whole story she couldn’t quite communicate. I used to ask, “When will Josie be able to play with me?”

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Bhavin

Bhavin

February 2020

"Bhavin (aged 39) was diagnosed with NBIA (PKAN) in 2012. It took us almost two years to give our questions an answer. It was extremely shocking but felt relieved on the other hand because we finally knew what was wrong. Although we felt helpless because there was nothing we could do about it.

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Lexi

Lexi

February 2020

"Let’s start from the beginning……

Lexi Fae was born on March 8, 2016. She was a healthy beautiful baby with a head full of curls, and no complications. Lexi was very cute and sweet from the moment she was born. Her first few months of life were typical however she was unusually quiet for a newborn.

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Anya

Anya

February 2020

"My name is Alexis and I am a 28-year-old mother of 3 fabulous kids.

My children are age 6, 2 and 4 months, and have been my world since I became a mother. Like most mothers I have so many dreams and aspirations for my children.

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Sawyer

Sawyer

February 2020

"Sawyer is a lively, happy one-year old boy that loves nothing more than to snuggle and laugh. Sawyer's diagnosis came quite early. Sawyer and his twin sister Sadie were born 2 months premature in January 2019. Sawyer immediately began showing signs of respiratory distress and was placed on a ventilator after being resuscitated.

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Harper

Harper

February 2020

"This is our beautiful & comedic daughter Harper! She absolutely lights up the room with her infectious smile, fun loving personality & music has been a very important factor in her life since the day she was born.

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Samantha

Samantha

February 2020

"Samantha is our amazing four-year-old, she is also a rare disease warrior. On July 27, 2017 she was diagnosed with BPAN at just 20 months old.

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Jordyn

Jordyn

February 2020

"Jordyn was born on April 18th, 2002. She was four weeks early but was ready to meet her two older siblings. It wasn't until Jordyn’s 1st birthday that she ran a very high fever and had multiple seizures. Three weeks in the hospital after numerous testing they sent us home with an epilepsy diagnosis with medications to treat it.

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Sarah

Sarah

February 2020

"My daughter Sarah is 23 years old. She was diagnosed with BPAN on Valentine's Day 3 years ago. Until that point she carried the diagnosis of Spastic Quad CP with autistic features. Sarah showed very early delays and then unfortunately her slow development plateaued at age 3.

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Kinlee

Kinlee

February 2020

"Kinlee will be 4 years old Feb. 27, she is my granddaughter that I have had custody of since birth. I also have had her sister since birth, and she will be 6 in June. I am a pediatric nurse and noticed Kinlee was not holding her bottle, rolling over, sitting up and reaching many milestones in a normal time frame.

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Dahlia

Dahlia

February 2020

"Since Dahlia was 8 months old, we were concerned there was something wrong. She was a little floppy, wasn’t sitting up yet, and she did a funky thing with her eyes; she would look out of the corner of her eyes up at lights or sunshine through the window and turn her head all the way to the side while keeping her eye on the light, similar to stimming.

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Dylan

Dylan

February 2020

"Our daughter, Dylan has BPAN, a variation of NBIA (Neuro-degeneration with Brain Iron Accumulation), which is an extremely rare degenerative and life-threatening disease with no current treatment or cure.

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Georgia

Georgia

February 2020

"Georgia is our beautiful daughter who was recently diagnosed with Beta Propeller Protein Associated Neurodegeneration (BPAN). She is two years old and has been a huge blessing in our lives.

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Logan

This is the story of Logan and his family... learning and living with a diagnosis of an NBIA disorder.

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Josie

Watch one family's story of a diagnosis of NBIA - INAD to becoming involved in the NBIA community.

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Jonathan Stretter’s Story of Move from California to Massachusetts

- Article by Jonathan Stretter and family

Jon Riding Shotgun with Dad

Mid-July 2013 - Things are changing around here. There are a lot of empty boxes on our front porch. My mom and dad are talking about moving to be closer to my brother. My mom wishes those boxes would magically fill up.

Boxes are beginning to pile up now inside our house. They don’t bother me much since I still have my comfy recliner to sit in and my TV to watch after I get home from my day program at Milestones.

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Sisters' Special Connection Penned in New Book

- Article by Britney Glaser for KPLC-TV

Ainsley"When a young girl named Ainsley was given a terminal diagnosis, her big sister Briley, only six at the time, knew everything was about to change. Ainsley is now wheelchair bound, but her sister is giving her the legs and voice she could never use."

As a toddler, Ainsley Rossiter appeared to be healthy and happy. However, her parents' intuition about something being off kicked when her development slowed. "At about 15 months she was not walking yet and she wasn't talking much," said Ainsley's father, Major Kim "Rooster" Rossiter.

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Brother, sister cope with NBIA as active, happy young adults

- By Melissa Carter. May 29, 2013.

carter1Looking back, there were signs that my brother, Brian, and I were heading to a medical crisis. But no one thought of NBIA (Neurodegeneration with Brain Iron Accumulation) when we were kids. We wouldn’t know those words until much later.

I remember when we were growing up that Brian fell a lot. He also stuttered and went to speech therapy. As soon as he would stop the speech therapy, the stutter would come back.  

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He had a purpose and you have hope

- By Pam Stromsta. November, 2012.

Kenny StromstaSept. 14 marked the fifth anniversary of our son's passing. Had he lived, Kenny would have been 26 on Oct. 31.

Patty Wood, president of NBIA Disorders Association, recently asked me if it seemed like only yesterday that Ken was here with us.  I told her, yes, at times, but it also feels like forever since we held him, or heard his mischievous laugh or saw that gorgeous smile.

I remember finding Patty through the National Organization for Rare Disorders in the early 1990’s. There were only about 10 affected families then, but it meant everything to find another soul who understood what we were going through and was doing something about it.

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Family makes it personal for Canadian pharmaceutical company

 - By Sandy Leap. July 26, 2012.

Sandy LeapMany NBIA families, like mine, are eagerly awaiting a trial of the iron chelation drug, deferiprone. We hope to learn from a European trial called TIRCON, Treat Iron-Related Childhood-Onset Neurodegeneration, whether the drug can slow symptoms and perhaps even reverse the effects of iron overload in the brain.

Toronto-based ApoPharma, the maker of deferiprone, wanted to hear from affected NBIA families about their hopes for the drug. I was pleased to be able to share that perspective at a recent meeting with company officials and scientists in June.

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At long last, my family has a big piece of the puzzle

 - By Cheryl Lamos. July 25, 2012.

Cheryl LamosI was surprised one day about eight months ago when NBIA geneticist Allison Gregory called me to say that researchers had found the genetic defect that causes NBIA in my family.

The gene is MMIN. It causes mitochondrial-membrane protein-associated neurodegeneration, or MPAN.

After all these years, we had an answer.

Long ago, my three NBIA-affected children, their father, an unaffected child and I donated blood to researchers to find this answer. It has been a long journey.

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Cameron Meade’s lasting gift: teaching others about NBIA

- By Jann Nestell. November 4, 2010

Cameron MeadeWhen Cameron Meade was in the hospital struggling with dystonic movements in 2009, his doctor at Sparrow Hospital in Lansing, Mich., Stephen Guertin, sought the help of Drs. Penny Hogarth and Susan Hayflick for ways to ease his distress. Both are experts in NBIA.

Cameron was not like any other patient they had cared for at Sparrow. His dystonia, which caused severe pain and affected his breathing, seemed to be helped only briefly by medications. During their weekly calls, Guertin, Hogarth and Hayflick devised – and then revised – a medication regimen for Cameron in an attempt to give him some relief.

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