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
-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.
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 4 years, and is in 1st 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.

Millie LOVES school, hippo therapy, running club, and swimming. Millie was recently hospitalized in February 2017-she was devastated that she had to miss some days of school, and her weekly activities. She was so motivated to regain her strength to resume all that she loves.

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 an incredibly happy child who embraces each day with so much enthusiasm and zeal. Millie loves life and all those she meets. 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. Millie is extremely perceptive and interested in others and sees the good in all those that she meets. Millie has shown us how to live a life filled with gratitude and positivity. Each day is a gift from God. 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 Umrao Monani, PhD at Columbia University for gene therapy research to study the postnatal requirement of the brain for the Glut1 protein.
-Thank you for your consideration!
  • 2017 MDBR: Saturday May 20, 2017
  • Ride Distances of 12, 33, & 72 miles
  • Food and beverage available in the ice rink for all cyclists and volunteers
  • See milliondollarbikeride.org for more details
Donation messages
We are sorry that we couldn't participate in this awesome event but want to let you know that we love you very much! Go Millie!! --Scott & Robyn Elsing
It was a pleasure to meet Erin, Walter, Millie and her big sister at the MDBR this weekend. Thank you for taking time to educate me and my wife on Glut-1. Millie was adorable and her big sister was well educated on her sister's disease. You are undoubtedly so proud of both of them! We look forward to being there next year with our own team and will hopefully see you there. --Jonathan & Carly Bush
Thank you for being such a great friend to Victoria. We love you very much and Victoria enjoys looking at the photo of you saying: "Millie is so beautiful." --Victoria
Dear Millie, have a wonderful ride! : ) We love you and are proud of you!! --John, Karen, Ben and Allie
Wishing I could be riding with you this weekend! Thinking of you and celebrating all of your excitement and joy. Love you! --Beth
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Fundraising goal $20,000.00
Love Some 1 with Glut 1 Campaign Video 2017
   
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delrossi@upenn.edu | Anne Marie Del Rossi, Director, Data Services | 215.898.3062
2929 Walnut Street, Suite 300 Philadelphia, PA 19104 | Superuser