Meet Ellie

About The Awesome Disease

Ellie McGinn was diagnosed with Leukodystrophy-LBSL – a degenerative brain and spinal cord mitochondrial disease in September 2011.

Due to a rare genetic disorder, Ellie’s body does not produce a protein essential for production of myelin, a critical substance for proper functioning of the brain and nervous system.  Myelin provides insulation – much like the plastic coating around the wires in your home. It is also essential for transmission of signals from the brain to the rest of the body. More commonly known myelin disorders include Multiple Sclerosis (MS) and Parkinson’s disease.

Ellie’s myelin problem stems from a mutation of the DARS 2 gene in her DNA. And while we can’t re-write her DNA (yet), science is now able to understand how that mutation impacts the function of the mitochondria in the cells responsible for helping to produce myelin.

Almost all cells in the body have mitochondria, which are tiny “power plants” that produce 90 percent of the body’s essential energy.  Mitochondrial disease means the power plants in Ellie’s cells do not function properly. When that happens, some functions in the body are not able to perform at adequate levels. It’s as if the body has a power failure: there is a gradation of effects, like a ‘brown out’ or a ‘black out.’ Organs that require massive amounts of energy, such as the brain, are often the most affected.

Like many Leukodystrophies – there is currently no cure for LBSL. But Ellie is taking a series of vitamins and amino acids, known as a “mito-cocktail” that aim to help boost mitochondrial function and keep her strong.

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Ellie’s Timeline

2008

Karen Elise “Ellie” McGinn came into the world at 4:19 p.m. weighing 6 pounds, 11 ounces. Daddy was the first person to hold her and she bore a striking resemblance to him. Ellie was born naturally and with no complications.

2009

Ellie turns one year old. She took her first step today and has about a dozen words in her adorable vocabulary.

2010

Ellie welcomes her beautiful, baby sister Vivian Estelle McGinn into the world. Vivian was born at 5:01 p.m. weighing 7 pounds, 3 ounces and looked just like her mommy.
Ellie turns two-years old and is a sweet, healthy and loving big sister.

2011

Ellie’s parents start to notice balance issues. They take her to the pediatrician who thinks it’s probably nothing serious, but something to keep an eye on.
Ellie’s running ability slows and she begins to complain of pain in her left foot while playing at the park.
Ellie goes in for her 3-year check-up and her parents explain their concerns about poor balance and foot pain. The doctor thinks she might have flat feet and suggests orthopedic inserts.
Ellie turns three and celebrates with her little sister, friends and family at their home.
Ellie is now complaining about pain in both feet and mom notices she is having more trouble keeping up with other kids her own age. Ellie’s new pediatrician suggests they consult with an orthopedic doctor who takes x-rays but finds nothing abnormal.
Ellie’s doctors test for rheumatoid arthritis, Lyme disease and anemia. All tests came back normal.
Ellie has trouble walking to the car. Her doctors find the progression “worrisome.” Mom relays that her hands seem a bit shaky when she feeds herself.  Ellie is referred to a neurologist.
Ellie goes in for an MRI of her spinal cord. Doctors think she may have a condition called “tethered spine.” What they find is more puzzling and seems to be leading up to the brain. Doctors order a more thorough exam known as an “MRI with contrast.”
Ellie undergoes second MRI and doctors make the diagnosis – Leukodystrohpy LBSL, caused by a genetic mutation in the DARS 2 gene. Ellie’s family, aunts and uncles begin a major quest to find answers, help and hope. God led them to wonderful doctors at John’s Hopkins University.
Ellie gets to travel to John’s Hopkins to give blood and urine samples.  These samples eventually lead to a diagnosis of “complex I deficiency,” a type of mitochondrial disease. Ellie’s doctors believe that her genetic mutation in the DARS 2 gene causes the mitochondria in her cells to function improperly and she begins taking a “vitamin cocktail” to boost mitochondrial function. She also starts eating a spoonful of cornstarch each night with pudding to keep her body from fasting too long overnight. Mom and dad are told to avoid fever and protect her head from injury during sports and play. Ellie’s parents are grateful for the opportunity to have some proactive steps to try to help keep her strong.

2012

Ellie beings taking L-carnetine (an amino acid dietary supplement).
Ellie begins taking another amino-acid supplement, L-methionine.
Ellie turns four-years old today and celebrates with her sister, the rest of her family and all her friends with a big pizza party at the neighborhood park. She ran around like a champ!
Ellie goes to Capitol Hill and meets with staff from Virginia Senators Warner and Webb’s offices to educate them on mitochondrial disease and ask their bosses to support S. Res. 490, which designates the week of September 16, 2012 as “Mitochondrial Disease Awareness Week.”

“Mitochondrial Disease Awareness Week.”
Ellie visits John’s Hopkins University where she teaches over 100 first-year medical students how to spot and manage LBSL and mitochondrial disease. She is a huge hit and loves the attention.

2013

Ellie visits with the middle school students at the Blessed Sacrament School in Virginia. She is greeted by dozens of her own personal “prayer warriors” who have been asking God to bring her health and healing over the last year. They put on frog costume to entertain her.
Ellie begins physical and occupational therapy at Abingdon Elementary

Ellie’s loved ones start the “Cure for Ellie” Facebook page. Her family feels so blessed to be surrounded by such love.
Ellie takes on Kindergarten! She joins a regular class and takes part in all activities, wearing a specialized helmet while heading to/from class, during recess and during Physical Education.
Ellie marks the start of “Mitochondrial Disease Awareness Week” with a story about her journey in the Washington Post.
Ellie is featured in a TV piece on CBS Channel 13 in Baltimore.
Ellie’s foundation reaches its goal of raising $10,000 during “Mitochondrial Disease Awareness Week.”
Ellie and her mom appear on News Channel 8 in Washington, D.C. to discuss her disease and foundation.

2014

Ellie undergoes a physical therapy assessment at the Kennedy Krieger Institute and shows signs of improvement in strength and balance.

Ellie, her mom and her PE teacher appear on News Channel 8 in Washington, D.C. to promote the first-ever Fairlington 5K Race, which will raise funds for her foundation.

Ellie’s school hosts the first-ever Fairlington 5K in her honor, which attracts over 600 runners and raises over $20,000 to be split between the school and her foundation.
Ellie turns six and celebrates with classmates.
Ellie marks “Mitochondrial Disease Awareness Week” with a social media fundraising appeal that raises several thousand dollars.
Ellie teaches the first-year med students at Johns Hopkins about her disease, how to spot it and how to treat it. The goal is not only to educate, but also to inspire the next generation of top doctors to solve rare diseases.

2015

Ellie’s school hosts the second annual Fairlington 5K which is attended by over 800 runners and raises over $23,000 dollars to be split between her school and her foundation. The event is a huge success and includes food trucks, a live band and a “family fun fair” with games, face painting and a bouncy house.

Ellie turns seven and is staying strong and healthy thanks to her prescription vitamin cocktail. She celebrates with family at her aunt and uncle’s house.

Thanks to a family friend, Ellie is seated directly below Pope Francis as he addresses the American people form the balcony of the United States Capitol. One of the first things the Pope did was bless all the children in the audience.

Ellie and her dad go on Fox 5 morning show, “Good Day Washington” to announce that there is a research project at the Kennedy Krieger Institute and Johns Hopkins that may cure her disease. The family begins a major fundraising push with the goal of raising $61,000 by the end of October 2015 to fund phase one of the project.

Ellie’s parents announce that they have raised the $61,000 needed to start the research at the Kennedy Krieger Institute and Johns Hopkins. They pass a check along to the research team led by Dr. Ali Fatemi. Research is expected to begin in early 2016 and will last approximately seven years. The overall cost is $2.3 million.

Ellie participates in her third annual teaching session at Johns Hopkins. Some students are so moved by her story that they express interest in dedicating their future careers to mitochondrial medicine and rare diseases. The day is chronicled in a newscast by the local NBC news station in Baltimore.
The Capitol Hill newspaper Roll Call publishes a story about Ellie and the many people from both political parties in Washington, D.C. who have pitched in to bring support and awareness to her cause.
Ellie’s mom go to the Kennedy Krieger Institute meet a family from Brazil whose three-year old boy also has LBSL. He receives the same vitamin therapy as Ellie and is one of several children from across the globe that Ellie has been able to help.
Ellie is named an honorary member of the York Town High School men’s basketball team and helps lead the team onto the hardwood during their match against a rival high school Lake Braddock. The halftime event is dedicated to her story in order to raise funds and awareness.

2016

Ellie, her sister and her parents meet the research team from Kennedy Krieger who will be conducted the LBSL research at Kennedy Krieger.

A mouse arrives by plane from Germany and is delivered to the Kennedy Krieger Institute in Baltimore, Maryland. The mice have Ellie’s genetic mutation and will be bread over the next four to six months in order to develop models used for testing new drug therapies.

Ellie’s parents host a Silent Auction in Arlington, Virginia that combined with her annual race, raises $20,000 for her research and her school. Many members of her community came forward with valuable products and services to help the family reach their fundraising goal.

Ellie, her mom and Dr. Ali Fatemi, head of the Moser Center for Leukodystrophies at Kennedy Krieger go on “News Channel 8” to promote the Fairlington 5K and the research project they hope will lead to a cure for LBSL.
Six-hundred runners show up for the Third Annual Fairlington 5K, which raised over $20,000 for Ellie’s research.
Ellie turns eight-years old and celebrates by riding ponies with friends in her back yard.

Ellie and her parents meet four-year old Kaic of Brazil who also suffers form LBSL. The McGinn’s and Kaic’s parents take a tour of the laboratory at the Kennedy Krieger Institute in Baltimore, where researchers are trying to create LBSL mice in order to eventually test novel drugs they hope will fix Ellie’s disease. Checks were presented to keep the research going.