Teen with rare genetic disorder competes in Special Olympics
Looking for some inspiration? Perhaps a little perspective? Go no further than Whitney Lackey, a 17-year-old Special Olympics athlete who was diagnosed with the rare disorder tuberous sclerosis complex (TSC) at 2 months old.
Whitney and her family live in Lebanon, Tennessee. Because of TSC, Whitney has non-cancerous tumors in her brain, kidneys and eye, and developmental delays. No matter. She represents Team Tennessee at the 2014 Special Olympics USA in the bocce event, competing June 16 through 18. Her mom, Sharon, has her own goal in mind — raise awareness about TSC and the need for more education and research.
"When we received the diagnosis in 1997, we were absolutely devastated," Sharon shares. "We thought we were going to live a life of pain and misery, but as it turns out we have lived a life of abundant blessings.
"I want other parents to know that despite TSC your child can live a very happy and successful life and you can never imagine how much joy they will bring you and everyone that knows them."
Patients often first in family to get TSC
Early diagnosis is key, says Dr. John Bissler, director of the Tuberous Sclerosis Center of Excellence at University of Tennessee Health Science Center, UT Le Bonheur Pediatric Specialists, LCH. He specializes in pediatric nephrology and tuberous sclerosis complex.
"Tuberous sclerosis complex is a genetic disease that affects how cells control their growth," he explains. "Although the disease is genetic, most patients get the disease even though their parents do not have the disease. They are the first ones in their family to get it. [TSC] can cause disease by affecting how organs develop, or even if they develop normally they can later develop tumors."
Path of positivity
Whitney's journey from a diagnosis at 2 months to Special Olympics athlete at 17 hasn't been easy, Sharon shares, but her daughter's outlook has never wavered.
"I am inspired by Whitney every day," her mom says. "She gets out of bed with a smile on her face and it stays there until she goes to bed at night. She is the most positive person I have ever met… and she believes she can do anything. She is a real superhero in my eyes."
Community needs experts, funding and long-term care
Because TSC is uncommon, diagnosis can be difficult. But once diagnosis is made, coordinated and expert care is vital, Dr. Bissler says. "What is needed most is a few very large centers [that provide] very experienced specialists in birth-to-old age care," he explains.
Dr. Bissler points to three immediate needs in the TSC community — expert care, financial help for families and expert long-term care as children become adults.
"While there may be insurance coverage, travel, co-payments and other costs can add unbelievable stress to the family," Dr. Bissler explains. "The needs of a child can limit a parent from working, further exacerbating the financial pressure. The stress of having a sick child and not enough money can make families draw together, but more often families can succumb to such stress, further hurting each family member."
A study published in in 2008 in the New England Journal of Medicine offered hope, pointing to a specific drug that could treat the kidney and lung disease, Dr. Bissler says. "Observations from this study led to additional work that demonstrated that the same class of drugs could treat the brain tumors associated with TSC," he adds.
Olympics today, diploma and job tomorrow
The Lackeys stay focused on Whitney's short- and long-term goals. The Special Olympics are on the immediate horizon, and the family is chronicling Whitney's journey on Tumblr.
But after the Olympics? Whitney dreams of graduating from high school and getting a job, her mom says.
"She has always loved being given a job to do," Sharon shares. "She has always been a people pleaser and it makes her happy to do something for someone else. There is no doubt in my mind that she will be able to get a job someday."