A story of grace under pressure: one family's life with Sanfilippo syndrome.

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." Dr. Kurtzberg explains, "The umbilical cord blood ... provides cells that can replace the enzyme the child is missing. Then those cells travel around the body and make enzymes in the blood but also go to various organs like the brain to produce enzymes in the brain." The risks of the procedure include infection, as chemotherapy weakens the body's immune response.

The Begs will need to decide soon if they will allow Zahra to undergo the treatment. They were scheduled to begin the treatment in late March but had to put their plans on hold because of the unexpected death of Zarrar's father. They are now reassessing the their choice. They are still trying to raise the necessary funds--upwards of $600,000--for the treatment and related expenses. Additionally, the family is struggling with their area school system to get appropriate placement for their daughters--currently, all three are at home and have a visiting teacher a few hours per week. The Begs must also figure out how they can organize care for their other children while Tayyaba stays at Duke with Zahra--typically, patients stay between four to seven months in order to complete the process and minimize the potential for a fatal infection. Zarrar has already used up his vacation time from his job; "I have to ask my fellow employees to donate their vacation time," he says.

Both Tayyaba and Zarrar find strength in each other and in their faith. "She's the rock," says Zarrar of his wife. "I get to leave and go to work each day, so I have it easy." Despite all the demands on her time and energy, Tayyaba finds a creative outlet in making improvements around their home such as building a half door for their kitchen to allow her to supervise her children while keeping them safely out of the way, and creating her family's clothes--especially outfits for her daughters. Abeerah and Khansa like to take their clothes and diapers off, so as a remedy, Tayyaba designs and sews one-piece jumpsuits which fasten in the back and can accommodate their diapers while still looking age appropriate. In order to help finance some of the family's staggering expenses, she has decided to start making outfits to order.

"What am I am going to do, just sit down and cry?" Tayyaba asks. "I have to keep going." Together, the Begs have calmness in the face of the challenges Sanfilippo syndrome has laid down for them. They are determined to get the best services and care available, and to enjoy their children--regardless of what the future may hold. Zarrar says, "It's in God's hands."

Donations for the Beg family can be made payable to "The EPFE/the Beg Family" and sent to:

Exceptional Parent Magazine
65 East Route 4
River Edge, NJ 07661

or to:

Help Our Girls
PO Box 521
Teaneck, NJ 07666-0521

The Begs may be reached by:
phone: [phone]
web: http://www.helpourgirls.com
e- mail: [e-mail]

RESOURCES

The National MPS Society
207-947-1445
207-990-3074 (fax)
http://www.mpssociety.org
Duke University Medical Center
Bone Marrow and Stem Cell
Transplant Program
TEL: [phone]
919.668.1091 (FAX)
http://bmt.mc.duke.edu/