original link: https://www.cslbehring.com/vita/2019/parents-of-children-with-a-rare-disease
What wouldn’t a parent do for their child?
Parents of children who have rare and serious diseases are called upon to answer that question and many dedicate their lives to the cause. From organizing fund-raising walks to diving into the nitty-gritty of scientific research, many moms and dads find deep resources of energy to improve their children’s health and lives. You might recall the movie Lorenzo’s Oil, which told the story of parents whose young son had the rare neurological disease adrenoleukodystrophy, or ALD. Frustrated with a lack of options for their son, Lorenzo’s parents investigated the illness on their own and even developed a potential treatment. Other real-life examples abound.
Women’s Day magazine recently featured Terry Jo Bichell on a list of inspiring moms. Bichell went back to school to get her doctorate in neuroscience after her son Louie was born with Angelman Syndrome. She wanted to be enough of an expert that she could push for scientific research that looked most promising. Bichell is now the State Ambassador for the National Organization of Rare Disorders’ Tennessee Rare Action Network.
CSL Behring’s Lynne Szott also changed her life trajectory. She became a nurse after her son was diagnosed with a primary immunodeficiency, a genetic condition where someone’s immune system is not working correctly. With nursing skills, she could provide quality care at home and know how to spot problems that needed quick attention.
“Understanding the care plan and the proper administration of that care was of great importance to me,” Szott said. “In our managed care system, parents are asked to perform skills that were historically done by licensed practitioners. It was for that reason that I became an RN.”
She later became a certified nurse care manager, gaining additional understanding about the health care delivery system. Her son is now an adult but, as a CSL Behring employee, Szott is still using her knowledge to help patients gain and maintain access to the therapies they need.
Another CSL Behring employee, Anne Johnson, founded an organization, the STXBP1 Foundation, dedicated to her son’s rare form of epilepsy. The group has started a patient registry and wants to see more research dedicated to epilepsy in all its forms.
CSL Behring employee Anne Johnson with her son, Mitchell, in Philadelphia. Johnson founded the STXBP1 Foundation, which is dedicated to her son’s rare form of epilepsy.
“Finding a cure for my son is the ultimate purpose and now shapes many of my decisions,” Johnson said.
Grandmother Darlene Shelton found her cause when her grandson, Danny, was born with hemophilia. She and her family founded Danny’s Dose, a national campaign to change the way hospitals handle emergency delivery of replacement clotting factor. She wants to simplify the rules so that bleeding disorder patients get the replacement factor they need quickly in an emergency medical situation. The organization has changed the rules in Missouri and intends to do the same in other states.
“We are in it for the long haul,” Shelton said during a webinar sponsored by the National Organization for Rare Disorders Rare Action Network.
NBC News reporter Richard Engel in 2018 went public with his story of being dad to a son who has Rett Syndrome. Young Henry Engel, who has a rare version of the rare disease, goes to therapy most days of the week and the family is working in partnership with Jan and Dan Duncan Neurological Institute at Texas Children’s Hospital. Engel said his wife, Mary, trains wearing a 30-pound vest to ensure she’ll be strong enough to continue carrying Henry, who cannot walk though he has learned to stand with some help.
Another mom and dad team, Vicki and Fred Modell, made it their life work to advance the cause of primary immunodeficiency diseases. They launched their mission after their 15-year-old son, Jeffrey, died of related complications in 1986. A new documentary, to be released this year, tells the story of grieving parents who followed their son’s demand that they “do something.” For more than 30 years, the Jeffrey Modell Foundation has led a global effort to better diagnose and treat primary immunodeficiencies by establishing Jeffrey Modell Diagnostic and Research Centers in 86 countries.
“That we have saved just one life gives us great satisfaction,” Vicki Modell says in the documentary’s trailer.
Find out more about Do Something: The Jeffrey Modell Story.