A family’s fight vs rare disease

Ever since he was a young boy, Alexander Baldoza would experience numbness and tingling, crawling sensations—like ants—crawling on both hands and feet. It got much worse when he had a cold or fever.

It was only in 2010 and at 42 years old that Alexander finally had a definite answer to his strange condition: Fabry disease, a rare and inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide or GL-3, in the body’s cells. Over time, this excessive buildup of GL-3 in some cell types can cause damage (which is sometimes severe) in tissues throughout the body. Patients with Fabry disease typically have a shortened life span, and children must often cope with significant pain and disability.

“I almost got used to the symptoms and, in fact, just applied liniment or whatever topical ointment that my doctor would recommend,” related Baldoza.

While early diagnosis is important, Fabry’s disease causes a variety of symptoms—many of which may be mistaken for those of other diseases—so much so that diagnosis can be very challenging and may be delayed for years, even decades.

“This is why it was only a few years ago, when my blood tests showed that my creatinine level was unusually high (elevated creatinine level signifies impaired kidney function, if not kidney disease), that my doctor began to suspect something. After seeing the result of my kidney biopsy, he immediately referred me to the Philippine General Hospital for a specialized blood test,” said Baldoza.

A genetic fault or mutation in the gene, Fabry disease leads to a harmful accumulation of GL-3 in the cardiovascular system, autonomic nervous system, kidneys and eyes. If not addressed immediately, this accumulation could result to impaired kidney function (and the need to undergo dialysis), brain or nervous system complications, heart problems (that could lead to heart attack and stroke) as well as hearing loss or ringing in the ears (tinnitus), among others.

Forced to resign

In Baldoza’s case, his failing kidney as well as hypertension and vertigo (a sudden sensation that he, or the environment around him, is moving or spinning) kept him from continuing his work as a machinist abroad.

Confined at home, the 46-year-old Baldoza now had to rely on his wife Lilibeth to find ways to support his burgeoning medical care as well as take care of their two children aged 16 and 13.

“We are racking up a lot of debts, considering one of his most important medications requires us to shell out P5,600 a month since he has to take an enzyme replacement therapy (via intravenous infusion) every two weeks,” related Lillibeth, who sells biko and kakanin (sticky rice cakes)  at home.

The therapy (developed by Genzyme) helps lower Baldoza’s GL-3 levels, which should improve how Fabry disease affects his body.

“Thousands of Filipinos like Baldoza are quietly battling rare medical conditions. It is hard enough to earn money for basic necessities, how much more spending for a rare disease? As part of an organization that tackles rare diseases, we are hoping that lawmakers finally pass the Rare Disease Act, which would provide access to medical care as well as a lifetime of treatment for these patients,” said Cynthia Magdaraog, president of the Philippine Society for Orphan Disorders.