Raising global awareness of inherited neuropathies is a daily challenge we face head on at The Hereditary Neuropathy Foundation. Recognizing and understanding the people living with these debilitating and sometimes fatal disorders are critical to developing the treatments and finding cures for these diseases.
One of these rare genetic diseases is Giant Axonal Neuropathy: an autosomal recessive genetic disorder caused by mutations on both copies of the GAN gene. The disease generally appears in early childhood, and progresses slowly as neuronal injury becomes more severe. Children with GAN don’t survive past their teens or twenties.
HNF has the honor of knowing one such GAN patient, Hannah Sames. She was diagnosed with GAN at four years old, and now at age eleven, Hannah can no longer walk on her own.
Her mom Lori Sames, and her husband Matt, formed Hannah’s Hope Fund (HHF) following Hannah’s diagnosis in 2008. They work tirelessly to fulfill HHF’s mission: to raise funds to support the development of treatments and a cure for GAN, and be the resource for doctors, scientists, and families around the world.
In 2012, Allison Moore met Lori at the World Orphan Drug Conference in Washington, D.C. When Allison met Lori, she was drawn to her determination in learning the science behind the rare disease affecting her daughter.
Ever since that first meeting, these two “Fighter Moms” have joined forces, sharing their organizations’ mission, researching business models, and the most effective approaches to engaging industry, initiating collaborations, and most importantly, never taking no for an answer!
And all the hard work, networking, and fundraising is finally paying off for Hannah and her family.
Hannah is currently taking part in a clinical trial at the National Institute of Health in Maryland. She is the fifth child to take part in the clinical trial, which started last May. Hannah will stay at the National Institute of Health for 60 days following her injection.
“We are so very happy today. The blueprint of Hannah’s life changed today. The pages are blank and a new future is before her.” ~Lori Sames
According to Matt Sames, it takes about two years to measure any clinical benefit, but the four children who have already received injections are doing well. The children are experiencing more leg strength and better breathing.
HNF welcomes Lori as a Summit speaker, where she will lead a discussion on Genotype and Phenotype: Managing Symptoms, The Role of Researchers/Clinicians/HCP.
We look forward to hearing how this Fighter Mom is bringing hope for children with GAN and their families.
More About Lori:
Lori Sames received a Bachelor’s degree in economics from St. Michael’s College, in VT, in 1992. She worked for IDX Systems Corporation as a computer software installation consultant for healthcare until 1996. She then became a Senior Project Lead for integrated healthcaremit delivery system installations.
Before becoming a stay at home mom in 2001, prior to the birth of her second child, Reagan, she lead web-based software installations on wireless networks, in the outpatient setting for Allscripts. She helped with her husband’s Pet Lodge businesses from time to time, while caring for her three daughters until her youngest daughter, Hannah, was diagnosed with GAN in March of 2008.
From that moment forward her life has been dedicated to a treatment and cure of GAN, and making lasting memories for her family.