Discovery solved riddle of Gaucher, her sister’s illness

As a child, Eva Gelernt suffered mysterious ailments: bone pain in her legs and knees. Unexplained bruising. Low blood platelet counts.

Eva, now 24, visited doctor after doctor in Moorestown, New Jersey, but her problems were dismissed as growing pains. By high school, Eva was being tested by oncologists. The tests, however, never showed any malignancy.

It was only in 2014, when older sister Anya was engaged, that she found an answer. Anya underwent genetic testing in anticipation of having children, and she tested positive for Gaucher disease. When her genetic counselor described the symptoms, it described her sister’s problems.

“I thought, ‘that’s Eva, not me,’” said Anya Gelernt-Dunkle, 27. “Sure enough, it was Eva.”

Gaucher disease (pronounced go-SHAY) is an inherited lipid storage disorder caused by genetic mutations common among Ashkenazi Jews. It’s a recessive disease that parents pass on to their children when both carry a mutation. Anya and Eva have the mildest form, Type 1. While Anya is asymptomatic, Eva suffers from the disease.

Those afflicted with Gaucher don’t have enough of the enzyme glucocerebrosidase, which breaks down a fatty chemical. They may suffer damage to internal organs and bones. More serious types of Gaucher cause cognitive problems and seizures, and can lead to early death.

Doctors found that Eva’s spleen and liver were grossly enlarged. She had experienced some deterioration of her bone marrow. She is being treated with a new oral medication t, Cedelga, and works with a Gaucher specialist to monitor her condition with an annual MRI.

After their discovery four years ago, the sisters decided to raise awareness of Gaucher, which often goes undiagnosed though it can be identified by a simple blood test. The pair recently became “ambassadors” of the National Gaucher Foundation to spread knowledge of the disease.

“Far too many people have gone undiagnosed for far too long,” said Eva.

Raising awareness isn’t important just for those who may suffer symptoms. It’s also important to spur couples to have genetic testing, so if they are carriers, they can plan appropriately.

The National Gaucher Foundation released a short film to spread awareness of the importance of genetic testing. In the dramatic comedy “One of Those Dates,” Gaucher disease is brought to the forefront of conversation — on a first date.

For the past two years, the foundation has partnered with JScreen, a nonprofit that offers Jews subsidized genetic screening for more than 200 diseases through home-order kits. More than 1,580 people have been screened through the partnership, and 86 were identified as being carriers of Gaucher. Three had the disease itself.

“That’s pretty astounding when you think that this is a rare disease,” said Amy Blum, COO of the National Gaucher Foundation.

Despite its rarity, Gaucher is the most common genetic disease among Ashkenazi Jews, the foundation says. One in 450 Ashkenazim has the disease and as many as 1 in 10 may be carriers. By comparison, 1 in 24 carry the gene for cystic fibrosis and 1 in 27 the mutation for Tay-Sachs.

Gaucher often is difficult to spot because its symptoms can mimic those of many diseases and doctors aren’t necessarily trained to spot it.

“Doctors are trained to think of the more common diseases like leukemia or lymphoma — that’s what they test for,” Blum said. “The average diagnostic journey from symptoms to accurate diagnosis could be five to eight years. That’s five to eight years of people suffering.”

Before scientists developed therapies for Gaucher, those with the disease were very sick. Today, however, with proper care and treatment, it can be as manageable as diabetes.

“They can lead very healthy lives,” Blum said. “Knowledge can be power.”

Among the five FDA-approved treatments for the disease are enzyme replacement therapy, which requires intravenous infusions, and the drug Eva takes — a substrate reduction therapy that reduces the amount of lipid in her system.

To educate health care providers and the public, the National Gaucher Foundation provides medical education for practitioners and hosts an annual meeting that brings together experts and patients. The foundation connects patients and parents to health resources and seeks to ensure that patients have access to specialists. There is financial help available for those who qualify.

Eva has learned to live with Gaucher. A graduate of Barnard College in New York City, she works as the clinical research coordinator at the multiple sclerosis center at Columbia University Medical Center and is applying to graduate programs to become a nurse practitioner. Having to monitor her disease through MRIs makes her appreciate what MS patients go through, Eva said.

“I can relate to them in some way and make them more comfortable,” she said.

Anya, who lives in Boston, doesn’t feel symptoms other than the occasional bone twinge. But Gaucher symptoms can appear at any time — in particular during pregnancy.

Because her husband does not possess any mutations for Gaucher, their children won’t have the disease, though they still can be carriers.

The experience has made Anya a huge booster of genetic testing.

“I told all my friends who got engaged: Do this now, so you don’t have to worry about it if everything is fine,” she said. “It’s so easy.”