Social Fundraising

Million Dollar Bike Ride - Glut1 Deficiency Fund

Miles for Millie - Riding our way to cure Glut 1

Glut 1 Deficiency Syndrome

Glucose Transporter Type 1 Deficiency Syndrome is a genetic disorder that impairs brain metabolism. Glucose isn't transported properly into the brain, leaving it starving for the energy it needs to grow and function.

Glut1 Deficiency is caused by a mutation in the SLC2A1 gene, which regulates the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose, the primary source of energy, across the blood-brain barrier. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients.

The impaired glucose transport associated with Glut1 Deficiency causes an array of symptoms which may vary considerably from one patient to another. The hallmark symptoms of Glut1 Deficiency are seizures (90% of patients), a complex movement disorder, developmental delay, and speech/language disorders. There is a great deal of variance across a wide spectrum in both the combination and severity of symptoms from one patient to another, and symptoms may evolve over time.

Some of the other suggestive symptoms seen in many Glut1 Deficiency patients:
-paroxysmal exercise-induced dystonia/dyskinesia (PED)
-early onset absence seizures before the age of 3
-treatment resistant seizures/epilepsy at any age
-fluctuation of symptoms with hunger, fatigue, heat, illness, anxiety, excitement
-symptoms worse just after waking in the morning
-symptom improvement after eating
-opsoclonus-like darting and dancing eye/head movements in first two years of life (aberrant gaze saccades)
-paroxysmal neurological symptoms
(seizures, movement disturbances, headaches, energy levels, confusion, mood)

There is currently no cure for Glut1 Deficiency. The recommended standard treatment is a ketogenic diet, which helps improve most symptoms for most patients by giving the brain an alternate source of energy and helps optimize brain growth and development.

There are currently a few hundred patients diagnosed WORLDWIDE, but experts believe there are thousands more yet to be discovered.
For more information-go to https://www.g1dfoundation.org/

Millie's Story

Millie was born a healthy, happy baby. At 4 months of age, she began with episodes of uncontrolled eye movement. Quickly falling behind in major developmental milestones, she began to present with significant ataxia and weakness. She fell often and was challenged with significant speech and gross/fine motor impairments. After a very long 3-year search, we arrived at a diagnosis of Glut1 Deficiency Syndrome.

Three weeks after diagnosis, Millie was admitted to CHOP for nearly a week as she began the ketogenic diet to shift her brain metabolism from glucose to ketones. After a rough start, but with a lot of inspiration from her older sister and prayers from many, our sweet little Millie began to improve and progress in all aspects of her life.

Millie has now been on keto for over 7 years, and is in 4th grade. She receives assistance with academics and with her diet, ensuring she receives every drop of her food that has been calculated and weighed out prior, to the tenth of a gram. With her condition, Millie still needs quite a bit of repetition to learn and continues to benefit from a lot of speech, occupational, and physical therapy.

We are so thankful for the amazing, supportive people that we have met through this journey. The Glut1 community and our keto team at CHOP have become in many ways like a family to us. Over the years, Millie has been blessed with incredible therapists, teachers, school van drivers, nurses, to name a few. We are so grateful for family and friends from our church, school, and our community who have prayed, encouraged, supported, and shown so much love.

Our Inspiration

Millie is such a happy child who embraces each day with so much enthusiasm and zeal. Millie loves life and all those she meets, and takes such a genuine interest in others. She has accepted her 'magic diet' and prays for it several times daily, that it will continue to bless her life and all those who are also on it. It is very evident that being with others who have Glut1/are on the ketogenic diet, bring Millie so much strength and encouragement...she knows she is not the only one. This past year, another child at Millie's school was diagnosed with Glut1! With a disease so rare, what a blessing that they have each other-and that they are not the only one at their school on the "magic diet"! There are many challenges that come with the keto diet and with living with Glut1. Yet through this journey, the Blessings have far outweighed the challenges. Millie is truly a gift from God, as are the amazing Glut1 kids and families that we are blessed to know. We do not know what the future holds, but are inspired and driven to find a cure that promises a bright future for all those with Glut1.

Please help us raise funds for a pilot grant for Glut1!

-100% of registration fees from each cyclist will go towards a Glut1 grant (No overhead costs are taken out!).
- When our team reaches a minimum of $20,000, Penn's Orphan Disease Center (ODC) will match dollar-for-dollar funds (up to a maximum of $50,000).
-In 2016, the efforts of Team Miles for Millie raised a pilot grant in the amount of $40,000 that was awarded to study the postnatal requirement of the brain for the Glut1 protein.
-in 2017, the team was able to support a grant of nearly $50,000 to further research for a grant entitled "Exploring a novel means of regulating Glut1 expression, and its therapeutic implications".
- After a year off in 2018, in 2019, the Miles for Millie team supported a grant for over $46k entitled "Defining the cellular site of action of the Glut1 protein in Glucose Transporter 1 deficiency Syndrome"
-Thank you for your consideration!

2020 MDBR: Saturday June 13, 2020
Ride Distances of 13, 34, & 72 miles