Vigil Raises Awareness of Rare Illness

ERMA – For the third year in a row, Erica Gartner held a vigil on the anniversary of her brother’s death from Hemophagocytic Lymphohistiocytosis (HLH). That’s a little-known autoimmune disease. 
Eric Gartner first showed symptoms of illness a few days before Christmas 2015. What looked like it could have been the flu or some similar infectious illness was HLH in disguise.
One study in an international pediatrics journal noted that HLH, often rooted in a genetic anomaly, is “easily misdiagnosed as any infectious disease.”
The disease’s early symptoms can, and often are, misleading. One of those symptoms is a persistent high fever.
In 2015, Gartner’s fever resisted the common medications that should have lessened it.
His family doctor advised a trip to the emergency room at Cape Regional Medical Center.
On his first visit there, Christmas Eve 2015, Eric was sent home with the usual advice on medications to reduce fever and deal with his body aches. Two days later, his 105-degree fever raged, he was admitted.
After several days in which his mystery disease defied identification, Gartner was transferred to Children’s Hospital of Philadelphia where HLH was diagnosed. 
On Feb. 27 of that year, Gartner died.
The Disease
HLH is a condition in which the body makes too many active immune cells that end up attacking healthy organs. 
Fever, rash, lymph node enlargement, muscle stiffness, and a variety of other symptoms can manifest themselves posing as something else.
Meanwhile the excessive immune response that is at the heart of the illness quickly begins its assault on the body.
Most HLH is familial, meaning it is rooted in a genetic mutation. The disease also can be acquired. Acquired HLH is not inherited. According to the National Institutes of Health (NHI), it can result from autoimmune and certain metabolic diseases.
NHI bulletins also note that all forms of HLH, even those “treated adequately,” have a high incidence of mortality. Researchers are doing their best to change the odds.
Cincinnati Children’s Hospital, a leader in HLH research and treatment, notes that time is of the essence when dealing with HLH treatment. With a disease that mimics the flu and other infections early on, the correct diagnosis is critical.
Family’s Message
This is the real message of the Gartner family vigil. They celebrated the life of a young man lost in his prime. Another important goal, said Erica Gartner, is to raise awareness of this disease to promote better diagnosis and treatment, on the one hand, and to encourage and support more funding for research on the other.
Specific testing and diagnostic protocols will help identify the disease quickly, but most doctors so seldom see HLH that they can delay in looking for it when the symptoms present.
HLH is considered a rare disease, but how rare is unclear. Scientific papers, including one in the Journal of Forensic Science, show that postmortem examination has resulted in some cases of HLH deaths in which there was no “premortem diagnosis.” 
Support New Research
The vigil was one of the annual things that Erica Gartner does to promote awareness of HLH and to encourage support for research. Another annual effort is her participation in the 5K run in New York to raise money for research. 
The Gartner family believes that lives can be saved with greater awareness. “I’ll be running in the 5K race until I’m too old to run anymore,” said Gartner.
More on Eric Gartner and his family’s vigil is available here. 

To contact Vince Conti, email vconti@cmcherald.com.