Magazine article The Exceptional Parent

A Story of Grace under Pressure: One Family's Life with Sanfilippo Syndrome

Magazine article The Exceptional Parent

A Story of Grace under Pressure: One Family's Life with Sanfilippo Syndrome

Article excerpt

Pundits have defined courage as "grace under pressure." But wordsmiths and philosophers alike would have a difficult time describing the courage of a family with three of four children affected by a rare, degenerative, fatal disease, only one of whom may benefit from a costly, possibly risky but potentially lifesaving treatment. Such is the situation faced by the Beg family of New Jersey.

Tayyaba and Zarrar Beg's three daughters, Abeerah, 6, Khansa, 4, and Zahra, 2, have Sanfilippo syndrome. Also known as mucopolysaccharidosis type III, Sanfilippo results from the lack of a specific enzyme responsible for breaking down and eliminating mucopolysaccharides from the body. The accumulation of these cells causes damage to the brain and other systems. Symptoms include mental deterioration including speech loss, behavioral problems and hyperactivity, excessive hair growth, joint stiffness and deafness. The Beg girls are also experiencing the diarrhea that accompanies the disorder and which requires them to wear diapers and need continual changes.

At first, the Begs' daughters were typically developing and then, one by one, their development stopped and began to regress. "It was like having a large rock fall on your head," says Zarrar, describing how it felt when he and his wife learned that Abeerah had Sanfilippo. When Abeerah's symptoms began, they mimicked those of autism--at age two and a half she stopped talking and interacting with her parents and siblings. The disease appeared in the same way with her two sisters.

"It hurt so much, but it was a relief to know we were not alone," adds Tayyaba of her daughters' diagnosis. So far, Balil, 3, the Begs' son, has not shown any signs of the disorder. As the only typically developing child in the family, Balil is still adjusting to the situation and his mother is concerned. Tayyaba reports, "The girls require constant attention and Balil sometimes thinks that's not fair." The family has found support from other parents through the National MPS Society and also learned about a new potential treatment at Duke University in North Carolina--stem cell transplantation. Only Zahra, the youngest, is a candidate to undergo the treatment as the disease has already progressed too far in Abeerah and Khansa.

Dr. Joanne Kurtzberg, the director of the pediatric bone marrow and stem cell transplant program at Duke, says with stem cell transplantation there is hope to stop the disorder. "We know in other related MPS syndromes that the procedure helps and it does arrest the progression of the disorder. But there has not been enough work in Sanfillipo to know if it is going to affect it or not."

According to Dr. Kurtzberg, the Duke facility has been doing stem cell transplants in children with Sanfillippo for two and a half years and has performed about six this year. She notes however, "If we know anything from treating others with MPS, it's that if children are transplanted under the age of two, the level of correction is much better than if they are transplanted later." She points out that it will take four to five years to find out if the progression has stopped.

During the procedure, patients are given high doses of chemotherapy, according to Dr. Kurtzberg, "to wipe out their own bone marrow cells and then replace the cells with stem cells from umbilical cord blood which come from an unrelated donor. …

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