Christina Hernandez of Riverhead knew something was wrong with her infant son, Nicholas. When he cried, his eyes swelled and his abdomen became bloated with fluid.
The emergency room doctors, who said his liver functions were 300 times above normal, were stumped.
A colonoscopy and endoscopy soon followed for the 7-month-old; a diagnosis didn’t.
“He was basically a human pincushion,” his mother said. “They couldn’t find out what was wrong.”
Ms. Hernandez and her husband, Enabel, feared the illness that was torturing their boy would be fatal.
Thankfully, the family’s pediatrician had experience with a condition that fit his symptoms: lymphatic disease. It’s an illness that affects up to 10 million people nationwide, but is rarely discussed or even diagnosed.
Tests confirmed that Nicholas had a form of the disease that wreaked havoc on his lymph system, causing his immune system to go “haywire.”
Nearly four years after that diagnosis, Nicholas has mostly recovered from the terrifying symptoms of his earliest years. But he isn’t cured; he now has lymphedema, which can only be treated and managed.
Now, the boy and his family are trying to raise awareness for lymphatic diseases, which affect more people in the United States than AIDS, Parkinson’s disease, multiple sclerosis, muscular dystrophy and ALS combined.
“There hasn’t been the same kind of activism for these diseases” as there have for the others, said Stanley Rockson, chief of consultative cardiology and director of the Center for Lymphatic and Venous Disorders at Stanford University. “Even the common forms don’t seem to get nearly the attention you would hope that they might.”
On Tuesday, Nicholas — now 5 years old — was honored by the New York State Legislature as lawmakers declared March 6 Lymphedema Day. A proposal by New York Sen. Charles Schumer seeks to make the designation national.
“[Nicholas] can have a voice for other kids who go through the same thing,” Ms. Hernandez said.
Lymphedema — the most common form of lymphatic disease — is a breakdown of the body’s lymph system, Dr. Rockson explained. The lymph system is a kind of alternative to the circulatory system that helps shuttle around fluid that’s leaked out of the blood. If the body’s veins and arteries are the main highways, the lymph system is the access roads.
The lymph system also helps the body’s immune system to function and allows essential fats to be absorbed from the diet. But if the system becomes damaged, the results affect every facet of a person’s life, said Bill Repicci, executive director of the Lymphatic Education & Research Network.
“Once you get lymphedema, your life revolves around lymphedema,” he said.
Damage to the lymph system can start as a “slowdown,” like a traffic accident on the service road, Dr. Rockson said. That slowdown can cause a traffic jam of fluid to build up in the surrounding tissue.
The immune system will soon become sluggish, making those affected more susceptible to infection. Fluid may leak into cavities around the intestines and lungs.
But most commonly, the limbs, neck or head will start to swell to abnormal size and the skin itself will thicken. Dr. Rockson said treatments can stimulate the breakup of fluid blockages, but as time goes on, the damage becomes permanent.
Its effects can be “embarrassing” for those who suffer from it, said Dr. Rockson.
The vast majority of cases involve what’s known as “acquired” lymph disease. Treatments for breast or prostate cancer require doctors to harvest nodes from the lymph system to test. The destruction of those nodes can affect the entire lymph system, Dr. Rockson said.
Radiation treatment can also damage the lymph system, as can physical trauma from something like a car accident or serious infection.
The kind of lymphedema Nicholas has — which is genetic — is rare, Mr. Repicci said.
Ms. Hernandez said her son had to eat a special gluten-free, dairy-free diet, but ultimately grew out of the worst of his disease. Today, Nicholas must still wear a “compression garment” — a tight sock that prevents his leg from swelling.
That treatment is among the only solutions for lymphedema, and isn’t covered by most insurance plans, including the Hernandez family’s.
“We’ve tried so hard to advocate so congress and insurance companies get on the same wavelength,” Ms. Hernandez said. “That’s what boggles me, with the insurance companies. This is treatable and if you don’t treat it, it can cause serious complications.”
Every year, the family has participated in a walk across the Brooklyn Bridge to raise awareness of lymphedema, she said, adding that she hopes to one day see something similar in Riverhead.
Dr. Rockson — who has worked with lymphedema patients since the 1990s — said various experimental treatments are in the works. Clinical trials of a medicine meant to readjust the lymph system will launch next month and surgeons are prototyping procedures to repair lymph damage.
More awareness of the disease may help speed up treatment — or even a cure.
“As these discoveries are being made … it’s only a matter of time before some of those advancements are translated into improvements in clinical care,” he said.
Meanwhile, Nicholas and his family must wait and hope.
“He’s going to have it the rest of his life unless there’s some miracle,” Ms. Hernandez said.