Wednesday, November 5, 2014

Gaucher Disease Isn't Getting THIS Kid Down! Meet Allie

The relationship started in preschool with an invitation, “Wanna play?” Allie, a human dynamo with an incredible joi de vivre, started playing with my daughter and, fast forward five years, they still enjoy each others company. It doesn’t matter to either child that Allie has Gaucher disease.

Allie with one of her many friends.

Gaucher Disease results from a deficiency of the enzyme glucocerebrosidase in the body and is caused by a genetic mutation received from both parents (source:, most commonly Jewish people of Eastern and Central European descent (Ashkenazi). This deficit leads to the accumulation of certain lipids in Gaucher cells. When the cells become too large, they prevent certain organs, like the liver and spleen, from working as they should. According to, “the fatty substances associated with Gaucher’s disease also can build up in bone tissue. This weakens the bone and increases the risk of fractures.” If the bone marrow is affected, it interferes with blood clotting. The disease runs the gamut from presenting no outward symptoms to skeletal problems, liver or spleen damage, bleeding, severe disability and death.

After years of infertility testing, Allie’s parents knew that they were both carriers, but with only a 25 percent chance of having a child with the disease and medications readily available, they took a chance and started a family. Still, when Allie went to the doctor for a suspected urinary tract infection and the doctor mentioned that she had an enlarged spleen (one of the symptoms), Allie’s mother, Elisa, perked up. Elisa told the doctor that both she and her husband were Gaucher carriers. Subsequent tests confirmed the diagnosis.

Gaucher disease, especially the type Allie has (Type 1) is treatable with medications effective at relieving some of the symptoms and even reversing some of the effects.

Gaucher disease, especially the type Allie has (Type 1) is treatable with medications effective at relieving some of the symptoms and even reversing some of the effects. While the initial treatments were long and the placing of a permanent port in her side was, as her mother says, “traumatic” for the youngster, thankfully, Allie only has to receive two 90-minute treatments twice a month. Nurses come to the house to administer her medication and Elisa says Allie’s reaction when she’s told she has to receive her treatment is “Really? Again?” To her, it’s no big deal.

And that’s what Elisa and her husband are letting people know. The family has adopted a positive attitude and makes sure Allie doesn’t receive any special attention, especially from her two older brothers who have tested negative for Gaucher’s. The radiant, little dynamo remains active and, in fact, doctors have explained that being physically active helps the condition. The only thing that’s different for Allie is that sometimes she wears a pad over her port to protect it – otherwise, life goes on.

Allie is very open about having Gaucher’s, has done presentations at school about it and actively participates in fundraisers. She recently met another little girl in the area who was just recently diagnosed with the disease and the two became fast friends. Elisa hopes the two can grow up together and share their experiences.

To her, it’s no big deal.

So what’s the prognosis? Gaucher’s is a lifelong condition and the now-third grader wilrl always be monitored and have follow-up bone density tests. She has earned her mother’s admiration by her proactive approach to the condition. Other than that, Elisa emphasizes that she’s “just Allie, a fun, energetic kid” not “Allie, who has Gaucher’s disease.” And to my daughter, she’s just “Allie, my friend.”

And to my daughter, she’s just “Allie, my friend.”   ♥

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