osteopetrosis

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Osteopetrosis also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to the more prevalent osteomalacia, in which the bones soften.
It can cause osteosclerosis.
Cause
Normally, bone growth is a balance between osteoblasts (cells that create bone tissue) and osteoclasts (cells that destroy bone tissue). Sufferers of osteopetrosis have a deficiency of osteoclasts, meaning too little bone is being resorbed, resulting in too much bone being created.
Symptoms
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, increased likelihood of fractures, and anaemia. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone.


Kids to meet hero firefighters who gave them lifesaving bone marrow
Bravest, meet courage.

Two New York City firefighters who donated bone marrow to a pair of sick boys will come face to face with the youngsters for the first time Monday at a Brooklyn ceremony honoring the lifesavers.

"I'm excited to meet him. A little nervous," said Billy Zask of Engine 257 in Canarsie, whose bone marrow saved 3-year-old Alex Jomar Maldonado Cruz of Puerto Rico. "It's a big thing, a very emotional situation."

Zask, 26, is one of dozens of Fire Department probies who agree each year to undergo DNA testing by the New York Blood Center to see if they are matches for patients whose best - or only - chance at life is a bone-marrow transplant.

Ninety-eight firefighters have donated marrow since the organizations began the partnership in 1990. The 16 who donated last year will be honored today at FDNY headquarters.

Alex's grateful mom, Jeinny Cruz, said through a translator Sunday that she was "really anxious" to meet Zask and to ask him "a million questions - why he did it for someone he doesn't know."

Little Alex was diagnosed in infancy with osteopetrosis, a rare bone disorder that doctors said would kill him by age 4 unless he received a bone-marrow transplant.

Now just weeks away from that milestone birthday, the boy who once wouldn't eat is chubby and rambunctious.

Twelve-year-old Cole Sierens is back playing floor hockey, football and soccer after receiving a bone-marrow transplant from Louis Dym of Ladder 169 in Bensonhurst.

Cole, who lives near Winnipeg, Canada, probably would not have survived a second bout with leukemia otherwise. He waited five months between his diagnosis and the transplant.

"Even if we would've found out we had a match tomorrow, one day is too long," said Cole's mom, Trina.

The family was "elated" to learn that Dym, 28, was a match. But rules governing donation required that his identity - and Cole's - be kept secret for a year following the transplant.

"It's hard to find words to put to a total stranger being there for you to save your child's life ... to find the right words to express how grateful you are," Trina Sierens said.

For Dym, that generosity comes with the badge.

"It's in the mentality of firefighters to want to help people, definitely," said Dym, 28. "It's not every day you get to help somebody, but to have the chance to save the life of a child who has leukemia was pretty special."

Cole thinks it's "pretty cool" that his donor is a New York City firefighter.

"I felt excited that somebody was going to donate to me and then I'd be all better again," he said.