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Imagine being the only person in the stands of vast Yankee Stadium, an arena with roughly 50,000 seats.

That's how Mary Beth Mantia of Saratoga Springs explained to her 6-year-old son how rare his birth defect is.

Danny, an energetic kindergartener, has proximal femoral focal deficiency (PFFD), a birth defect in which there is a lack of normal development in the upper end of the thigh bone. His left leg is about three inches shorter than his right. If not corrected with surgery, eventually his leg could be as much as six or seven inches different in length.

In most cases, the hip is also poorly developed. PFFD varies in severity from the mild case with a short femur but normal hip joint to the more severe case where no hip joint is present, according to the PFFD Web site.

"Danny has a slight rotation in his legs, but he's fortunate because there are four different stages of the birth defect," Mary Beth said.

Ken and Mary Beth want people to be made aware of this very rare birth defect that has affected their son.

"Cancers get a lot of funding, and there are so many other illnesses out there that people aren't aware of - and we just want to find support in it," Mary Beth said.

In her seventh month of pregnancy, Mary Beth had an ultrasound that indicated one of Danny's legs appeared broken. The couple were told that their unborn child had osteogenesis imperfecta, a genetic condition characterized by brittle bones that would break with little or no cause.

This was devastating news to the couple, who also have two older sons.

Mary Beth had an arranged C-section to deliver Danny because of how fragile his bones supposedly were. When he was delivered, his leg was not broken after all. On the second day after his birth, a pediatric orthopedic specialist at Albany Medical Center diagnosed Danny's condition as PFFD.

His left leg was one and a half inches shorter than his right leg.

"I felt like I won the lottery. But Ken still held him like he had brittle bones. and he was afraid to hold him," Mary Beth recalled.

Although this was relatively good news compared to what the family thought they faced with the original diagnosis, it was important that when Danny got to be 3 years old that he have the first of several surgeries necessary to correct the condition.

On the recommendation of Danny's doctor at Albany Med, the family traveled to a Boston hospital to meet with a doctor for a surgery consultation. The Mantias were told that due to the "complexity" of their son's condition from a birth defect, as opposed to an auto accident, they should visit the Rubin Institute for Advanced Orthopedics in Baltimore, which specializes in leg discrepancies.

Meanwhile, their HMO specified that they limit their search for a specialist within their physician network, Mary Beth said, which would disqualify the Maryland facility.

To comply with the rules, Ken and Mary Beth took Danny to two different New York City hospitals for evaluations. One doctor wanted to amputate Danny's leg because he anticipated an overall leg length difference of seven inches, Mary Beth said.

"But he also said he didn't have a lot of experience with lengthening legs. It isn't something they see a lot," she said.

The second doctor also admitted she didn't have much experience with this defect, perhaps seeing only one or two cases like Danny's per year. She wrote a letter advising that the Mantias be able to consult with a doctor at the Baltimore hospital because he had done "hundreds" of leg lengthening procedures, Mary Beth said.

After much back and forth with their insurance company, Danny finally was cleared for the surgery in the Rubin Institute for Advanced Orthopedics.

Danny had a new hip socket made because his was very "shallow." Because he was born without an anterior cruciate ligament, one was made from Danny's thigh muscle. His femur was broken in half and straightened because it bowed out, "almost like a boomerang," Ken said.

This first surgery was meant to align the hip properly and stabilize the knee, rather than to begin the lengthening process.

Danny spent six weeks in a body cast and then had to use a walker.

"That surgery was critical and has to be done while the bones are still growing and flexible," Mary Beth said.

Mary Beth said she has met only one other family in Saratoga Springs whose child has PFFD. They have become close because of their children's conditions and feel a sense of camaraderie as they deal with their situations.

Presently Danny has a 2-1/2-inch lift built into the bottom of his New Balance sneaker. The difference in his legs doesn't seem to slow him down. On a recent day, Danny was running around in his stocking feet, staying on the tippy toes of his left foot.

Mary Beth said each lift costs $70, and she has to buy two pairs of shoes at a time because Danny's left foot is a size 11 and his right is a size 10.

"We have all these extra shoes that he doesn't wear, so we are looking into donating them to kids who do have the amputation and have the need for one shoe," she said.

Now that Danny is 6, he might be ready to have the second surgery, the first to actually start the leg lengthening process. The Mantias are hoping to visit the Rubin Institute in March to discuss the next step.

Each surgery runs about $80,000, not including physical therapy or check ups, Mary Beth said. Although the couple's insurance company eventually picked up the cost of the first operation when Danny was 3 years old, there is no guarantee that this will happen for subsequent procedures.

If he is determined to be physically and psychologically ready for the surgery, it will mean a rough time for Danny. Mary Beth will have to spend at least two months in Baltimore with him while he relearns how to walk through intensive physical therapy.

He'll have a fixator, or a device that has metal rods that go into the leg to lengthen it. It's a very painful process, for which he'll need medication.

"You're basically cranking the bone to stretch it by a small amount each day," Ken said.

If all goes well, Danny will have another operation at around age 9 to make up for growth spurts. The doctors are hoping each procedure will increase the length of the femur by 2-1/2 inches.

"When he gets to be about 14, they would shut off the growth plate in the good leg and make up the inch. That's a day surgery, but that's only if the other two go smoothly," Ken said.

Ken and Mary Beth seem to be taking Danny's condition in stride, although they know that his friends ask questions as to why his one shoe is so big - and he gets a lot of sympathetic stares when he's out in public.

"I sometimes want to say, ‘Just ask me, I'd love to tell you that he's OK,' " Mary Beth said.

 

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