dr david weinstein's gene therapy research
Adeline was born on September 7, 2015 with Glycogen Storage Disease, a rare yet deadly genetic disorder which impacts the liver’s storage and release of sugar. GSD takes on various distinct forms and there are 11 subtypes, Adeline has the most general form Type 1a. The disease affects 1 in 100,000 people. Healthy livers store excess sugar in the form of glycogen from food for our body’s future energy needs and releases that sugar into our bloodstream when we need it as glucose.
It’s different for Adeline. Her liver is missing one enzyme, glucose-6-phosphatase which plays the key role in converting glycogen into its useable form, glucose. This deficiency results in a build up of glycogen in organs including liver, kidneys and intestines. This accumulation of glycogen causes organ damage over time. Failing to break down glycogen into glucose will cause her body’s blood sugar levels to drop dangerously low. Therefore, she needs constant glucose intake; feeds every 90 minutes. If she doesn’t, the result is chilling; resulting in seizures or even death.
However, this condition is no longer a guaranteed death sentence. Cornstarch therapy was introduced as a slow release form of glucose in 1982 and it allowed meals to be spaced to every three to four hours. A greater number of patients with GSD are now surviving into adulthood because of cornstarch. It has now been almost 35 years later and cornstarch is still the only approved treatment. Adeline has been tried on cornstarch without success. Amylase needs to be present before cornstarch can be tolerated.
Glycogen Storage Disease Type 1a is living life by the clock. Her parents ability to provide Adeline with the right formula/diet at the right time in the right amounts and careful blood sugar monitoring and rescues as needed for hypoglycaemia is paramount to her survival. Parent exhaustion is well known with families of GSD, especially in the 0-5 year age range because of the intensive dietary support needed. The GSD diet should have minimal fructose, sucrose and galactose. Therefore, no fruits, candies or ice cream for Adeline.
GSD patients are at high risk for other health conditions because their bodies are constantly trying to compensate for the liver’s dysfunction, finding alternative energy sources. The list of conditions is long: kidney stones, kidney failure, anemia, cardiovascular disease, high cholesterol, liver tumors, osteoporosis and inflammatory bowel disease.
Although this condition is rare, Adeline is not alone. Through her journey with mom and dad, they have encountered many families in worse positions, who have less support in their community. They have learned to be extremely grateful for what they have but also sadness from learning that others do not. Along the way they met Dr. David Weinstein, the world GSD expert and his amazingly caring team, Kathy Ross and Dr. Monika, who have helped with Adeline’s condition without asking for anything in return. Rare diseases are often overlooked and receive very little support from government funding. GSD families and friends have gathered together in support of Dr. Weinstein's stunning discoveries with his research in finding a cure for GSD. Adeline’s mission is to join these families to help raise funds for his research. Every penny counts. Her vision is to one day be able to eat ice cream with all her GSD friends from around the world who have been cured. Hence, "one day ice cream" is Adeline's motto.
The tireless efforts from Dr. Weinstein and his team have saved hundreds of lives and a cure is getting extremely closer. 2018 marks the year where gene therapy for GSD will begin with human clinical trials. Dr. Weinstein, his team at the University of Connecticut and the Dimension Therapeutics of Cambridge, Massachusetts are at the helm hoping to finally solve this extraordinary disease, delivering a guaranteed cure to little kids and adults all around the world like Adeline. Please support their dream for a cure.