Family fights against rare genetic disorder
From the Press & Sun Bulletin: Sunday, August 13, 2000
Father struggles against time to save son from disease
BY MARY ESCH Associated Press
HYDE PARK — Bill Skojec gates into the sparkling eyes of his wispy-haired son with the intensity of someone absorbed in a novel.
He savors every giggle, every wave, every babbled “Da-da,” knowing that too soon, he’ll reach the final chapter of his little boy’s life. And despite his desperate efforts to rewrite the ending, Skojec knows it’s not likely to be a happy one.
Alexander Skojec has a genetic disorder called sialidosis. At 19 months old, he cannot walk or hold a cup.
He sits unsupported only briefly. But he laughs delightedly when his 4-year-old sister plays with him.
Sialidosis is so uncommon that fewer than 50 cases have been recorded in medical literature. In an Internet search, Skojec and his wife were able to find scant information about the disease. They have managed to contact only one other family, in Canada, whose child suffers from it.
Sialidosis is one of the rarest of a group of 41 inherited metabolic defects known as lysosomal storage disorders. These diseases are characterized by the lack of certain enzymes needed to break down fats and carbohydrates.
The enzyme deficiency causes waste products to build up in body tissues, causing problems with vision, hearing, movement, skeletal development, and brain function.
Symptoms may include muscle spasms, tremors, lack of coordination, impaired vision, bone deformities, coarse facial features, mild mental retardation, enlarged liver or spleen, breathing difficulty, developmental delays, and accumulation of fluid in the abdomen.
One form of sialidosis doesn’t produce symptoms until adolescence. In the more severe form that Alex has, symptoms develop soon after birth, and death usually comes at a very early age.
When Alex was, born, he had broken blood vessels on hi&back and shoulders. Doctors suspected a rare blood clotting disorder, but tests came back negative. When he was six months old, he had enlarged kidneys, liver, and spleen, as well as developmental delays, but medical tests failed to reveal a cause.
He developed a high fever when he was 11 months old and was admitted to the hospital, where he underwent a battery of tests. His enlarged organs and abnormal lab work suggested a genetic disorder, and Alex was referred to Dr. David Kronn, a geneticist at Westchester Medical Center.
“The geneticist came to our house on Alex’s first birthday,” Skojec said. “He gave us the diagnosis, and told us what it meant. It was anticlimactic in a sense, because I had done a lot of reading and I already knew’ what it, meant. But actually hearing the the words was like a low to the stomach.”
The next day, Skojec was too depressed to get out of bed and go to work. “But then my 4-year-old daughter jumped on me and said ‘Daddy, you have to do something!’ So 1 decided to get going and do what I could for Alex.”
A father seeks answers
After his son was diagnosed, Skojec took many months off from. work to focus on searching for information and seeking publicity for the little-known disease.
He contacted the few researchers investigating sialidosis and related disorders. He found only the faintest rays of hope.
Since lysosomal storage disorders are caused by the lack of particular enzymes, researchers have sought treatments in which enzymes are injected, much as insulin is injected to treat diabetes. That approach has worked for one of the disorders, Gaucher disease.
In lysosomal storage disorders that affect the nervous system as sialidosis does, enzyme replacement doesn’t work because the enzyme doesn’t pass the blood-brain barrier, Kronn said.
Bone marrow transplantation is also being studied as an experimental treatment for these disorders. But it is a highly risky procedure, and the potential for success depends on the type of enzyme deficiency, the age of the patient, the extent of damage from the disease, and the availability of a suitable donor.
Gene therapy offers perhaps the best hope for patients with genetic defects like the one that causes sialidosis. The idea is to replace the bad gene with one that produces the needed enzyme.
But the promise of this new technology is unlikely to become a reality in time to help Alex. And much of the research has focused on curing cancer, rather than the rare genetic diseases the field had first aimed to treat, because a cancer cure would be more profitable to corporate sponsors.
“At this point, there is no treatment aimed at reversing the course of the disease,” Kronn said. “Treatments are mostly symptomatic. Patients are very prone to infections, they may need nebulizers or other breathing help. The disease affects multiple organ systems.”
“Gene therapy offers the best hope, but it’s still in very early early stages, Kronn said.
Research on gene therapy in humans was dealt a setback when an Arizona teen-ager died after undergoing experimental treatment last fall at the University of Pennsylvania. The Food and Drug Administration suspended human studies there after the incident, and concerns were raised about oversight of the field.
Subsequently, studies were voluntarily halted at several other institutions because of concerns over safety and effectiveness.
Skojec contacted Suleiman Igdoura, a genetics researcher at McMaster University in Canada. Igdoura agreed to culture Alex’s cells to determine the extent of his genetic defect.
Igdoura and colleagues are developing a gene therapy program, but it will be at least a year or two before it gets to the stage of human clinical trials, he said. That may be too late for Alex.
Several organizations are working to promote research on diagnosis and treatments for lysosomal storage disorders, as well as providing a support and information network for affected families.
They include the International Society for Mannosidosis and Related Diseases in Baltimore, Md., and the National Organization for Rare Disorders (NORD) in New Fairfield, Conn.
Skojec is organizing a charity softball tournament in Poughkeepsie Sept. 9, to raise money for sialidosis research through donations to NORD.
Skojec knows the odds are against him as he tries to save his son’s life. But he hopes he can help save someone else’s child by promoting awareness of the disease and research towards a cure.
Meanwhile, he enjoys every small milestone in his little boy’s life.
“This summer, he learned to wave good-bye,” Skojec said proudly, without a trace of irony.