The Heritage Florida Jewish News reported a story about one sister’s journey to her Gaucher Disease diagnosis, thanks to her older sister’s wedding prep.
What is Gaucher Disease?
Gaucher disease is a lysosomal storage disorder in which the activity of the enzyme beta-glucocerebrosidase is incredibly low or non-existent. Beta-glucocerebrosidase is responsible for the breakdown of glucocerebroside, a lipid, into the simpler glucose and ceramide molecules.
If beta-glucocerebrosidase activity is too low (as in the case of Gaucher disease), then glucocerebroside levels accumulate in cells and cause damage to tissues and organs.
While symptoms vary with each different type of Gaucher, common symptoms include:
- Abdominal complaints: Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
- Skeletal abnormalities: Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
- Blood disorders: A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds
An inherited disorder, Gaucher disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi).
From Mysterious Illness to Rare Diagnosis
So as the Heritage Florida Jewish News reports, Eva Gelernt has always suffered from mysterious medical issues: severe bone pain in her legs and knees, unexplained bruising, low blood platelet counts, and more.
Like many in the rare disease community have gone through, Eva ran through the gauntlet of different diagnostic exams and assumed pre-diagnoses (from normal growing pains to cancer!) with no luck in explaining what she had.
But in 2014, when Eva’s older sister Anya was engaged to be married, Eva found the answer she was looking for.
Anya underwent genetic testing before her wedding in anticipation of having a family someday, and she tested positive for Gaucher disease. When the genetic counselor described the symptoms, it described Eva’s issues!
“I thought, ‘that’s Eva, not me,'” said Anya. “And, sure enough, it was Eva.”
Both sisters have Gaucher, Type 1 – but while Anya is asymptomatic, Eva suffers from the disease.
And having gone through this experience, the sisters decided to raise awareness for Gaucher, which often goes undiagnosed. They recently became part of a team of “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.