**Juliet passed away from complications of her mitochondrial disease on September 5th, 2020 in the arms of her loving parents. Despite being home on hospice since October 2019, Juliet was able to enjoy a remarkably good beginning to the Summer. In the middle of July 2020, however, she took an unexpected turn for the worst. She fought hard to the very end. We appreciate your continued support of the Fund to honor her life and memory. Someday, with your continued support, no child will have to suffer from the devastating effects of this disease.**
Juliet is HOPING for a CURE!
THANK YOU for your interest in Juliet's Cure Mitochondrial Disease Fund. We hope that you will join us as we race against time to find effective medical and biochemical therapies to help our daughter, Juliet. We feel strongly that the best chance we have to help Juliet is to focus ALL of our fundraising efforts to support Dr. Marni Falk's lab at the Children's Hospital of Philadelphia. One hundred percent of your contributions go to the Dr. Falk Lab at CHOP and are tax deductible.
Here is our fund's story:
In the summer of 2013, after working with Juliet's DNA for six years, Dr. Marni Falk and her amazing staff of scientists at the Children's Hospital of Philadelphia, were finally able to identify the gene that is causing Juliet's form of Mitochondrial Disease, FBXL4. Now that Dr. Falk and her team have identified which gene is causing the disease, they are actively pursuing therapies to treat the disease. This is the great news we have been waiting for!
Please help us as the lab attempts to learn more about the affected gene and what can be done to counter the effects of the gene's mutation.
Juliet was born with lots of dark brown hair and amazing promise. Unfortunately, she was first hospitalized at just three days old. She has had too many hospital stays to count, and visits the hospital frequently for labs and to see her specialists.
On a daily basis, Juliet fights severe hypotonia (low muscle tone) that prevents her from being able to sit, crawl, stand, walk or move independently. She also has swallow dysfunction and is fed through a g-j tube that bypasses her stomach and goes directly into her intestines. Juliet will light up the room with her smile and laughter. She loves people, especially little children. Juliet cannot speak, but adores books. She would listen to her Mommy or Daddy read to her all day if she could (and sometimes she does!)
Since Mitochondrial Disease affects the mitochondria of the cells (the energy producers), any type of stress on Juliet's body puts her in a dangerous situation. Juliet cannot fight infections well and is at great risk even if exposed to just the common cold! Juliet does not do well in the heat or cold as these are stressors as well.
Juliet presents with many symptoms, the most serious being lactic acidosis and renal tubular acidosis, neutropenia, pancreatic enzyme deficiency, cardiomyopathy, seizures, and obstruction of her digestive system. Each and every day is a struggle for Juliet, yet she is so resilient. Juliet has taught us so much about courage. We are thankful for each day that we can share with our little angel who will be 14 this year. She is the second oldest child in the world (that we know of) who has FBXL4. She loves books and crafts, but is happiest when she is interacting with people.