Mason Reiter of Livonia is an active 6-year-old boy who loves swimming, elephants and Star Wars.
But since infancy, he has suffered from an extremely rare genetic disease of the kidney and liver that causes the formation of painful kidney stones. Currently, the only available treatment for the disease, called primary hyperoxaluria, is a combined kidney and liver transplant, which can lead to severe complications.
“If you saw Mason, you wouldn't know he has a genetic disease,” said Alison R. De Noia, project manager of the Oxalosis & Hyperoxaluria Foundation. “Mason loves to run, jump and play with his friends. He always has a smile on his face when you meet him that will warm your heart.”
But when a stone passes, it causes him so much pain that he has fainted in the past. And doctors say Mason's kidney can crystallize and fail at any time, with no warning.
“No child should have to suffer this way,” De Noia said.
Mason's family members are hoping for a cure.
To that end, they will host the inaugural “Take the Challenge Walk for a Cure” in honor of Mason at 1 p.m. Sunday, Sept. 25, at Wayne County Parks' Nankin Mills in Westland.
“We need to A) raise dollars and B) raise awareness,” said Mason's mom, Nancy Reiter.
All proceeds will benefit the OHF, the only foundation in the world dedicated to finding a cure for hyperoxaluria. The OHF also funds the Hyperoxaluria Center at the Mayo Clinic, which treats Mason. “They are the specialists in this disease. We want to keep that center open,” Reiter said.
Reiter said awareness needs to be raised because the disease is so rare, health professionals at local hospitals don't know about it and don't know how to treat the complications that arise from it.
For example, Mason has been treated locally for pneumonia four times because of breathing problems. “He was on medication and the levels weren't correct,” his mother said.
Mason passed his first known kidney stone at age 15 months. But there was at least one time before that that his mother suspects he passed a stone. “He screamed to the point where he fainted,” she said. “He was in a walker. I had no idea; I thought maybe his finger was pinched.”
After Mason was diagnosed at age 2'ªø1‚-2, doctors put him on a low-oxalate diet, which means avoiding foods like chocolate, and ordered him to drink two liters of fluid a day. He goes for ultrasounds every four months and blood draws about every eight weeks.
“The scary part of this disease is dialysis doesn't work. The kidney actually crystallizes,” Reiter said, explaining that patients with Mason's disease produce large levels of oxalate because of a missing liver enzyme.
“We hope with increased fluids, we can keep the kidney working,” she said, adding Mason already has reduced kidney function. She said doctors have told them they may not have any advance warning of kidney failure. “He could get the flu at school and if it dehydrates, he could go into failure.”
According to De Noia, all patients with primary hyperoxaluria have kidney stones, 50 percent have kidney failure by age 15 and 80 percent have kidney failure by age 30.
2011年4月20日星期三
A new wave in equine medicine
Shock-wave therapy shows early potential for treating some orthopedic problems
Lithotripsy was a great discovery. Anyone who has suffered with kidney stones or bladder stones knows the intense pain associated with these conditions. The development of lithotripsy allowed doctors to focus pressure or shock waves on the stones to break them apart. The patient then passes much smaller stone particles, reducing or eliminating pain and avoiding surgery.
In the course of investigating the broader effects of shock-wave therapy, researchers have made a few other discoveries. In the early 1980s, researchers were concerned about the possible effects of lithotripsy on the surrounding tissue.
They knew the shock waves would gently break apart the stones in the kidney or bladder, but what would those pressure waves do to surrounding tissue such as blood vessels, kidney cells, and the bone of the pelvis?
The first experiments on shock-wave side effects, as they were then considered, were carried out on the pelvic bones of rabbits. Shock waves were applied as they would be for lithotripsy, and the pelvic bones were then examined under a microscope.
Researchers discovered small ruptures in the bone tissue. Bleeding and microdamage to the bone cells resembled, on a cellular level, what would occur in a fresh fracture. At first, this was of great concern. This new, wonderful procedure that could remove kidney stones without pain and surgery was also likely to cause blood-vessel damage and local microfractures. Was this going to be another situation where the problems associated with a cure were as bad or worse than the original condition?
Stimulate repair
Researchers followed the progress of the damage to the bone tissue, however, and found that, after the shock-wave trauma occurred, the osteocytes and osteoblasts of the affected bone showed increased activity. These cells are responsible for repairing damage to bone and for producing new bone to heal the damage. It is exactly these cells that the body needs to heal fractures and to heal any type of stress to the bone.
Shock waves seem to stimulate these cells, and the result is increased growth. Researchers then began to think of ways to apply this new information to conditions where bone growth was desirable.
Studies began in Bulgaria in the mid-1980s on the effects of shock waves on pseudoarthrosis, a disorder in the fracture-healing process where the body forms only a cartilage-like link between the fractured bone ends, but real stable bone callus does not form. Nonunion fractures fall into this category as well.
The first medical paper reporting on the use of shock-wave therapy for the healing of pseudoarthrosis was published in 1991, and other researchers soon confirmed the results.
They found that shock waves provided an effect similar to a fresh fracture on a tissue level. The body then seemed to recognize that healing in this area was still required and in many cases a bony link was formed. These studies showed that 60%-to-80% of all pseudoarthrosis cases could be healed completely with shock-wave therapy.
This information in turn caused other human orthopedic researchers to investigate shock-wave therapy use for a number of other conditions. Researchers in Hamburg, Germany, discovered that shock waves caused a decrease in pain in areas associated with bone-tendon connections. Shock waves seemed to relieve pain associated with shoulder injuries, tennis elbow, and heel spurs.
Further research indicated that shock waves might actually reduce the bony growths that develop at the areas where tendons and ligaments are inserted onto bone. In conditions such as tennis elbow and heel spurs, repeated trauma causes the bone to produce small, irregular growths known as osteophytes.
The body produces this bone material in an attempt to deal with the stress at that particular location. The buildup of this bone tissue causes more pain in the tendon or ligament, which must now move over these irregularly shaped, often irritating bone spurs. Shock waves reduce the pain in these areas and seem to resolve some of the excessive bone growth.
Lithotripsy was a great discovery. Anyone who has suffered with kidney stones or bladder stones knows the intense pain associated with these conditions. The development of lithotripsy allowed doctors to focus pressure or shock waves on the stones to break them apart. The patient then passes much smaller stone particles, reducing or eliminating pain and avoiding surgery.
In the course of investigating the broader effects of shock-wave therapy, researchers have made a few other discoveries. In the early 1980s, researchers were concerned about the possible effects of lithotripsy on the surrounding tissue.
They knew the shock waves would gently break apart the stones in the kidney or bladder, but what would those pressure waves do to surrounding tissue such as blood vessels, kidney cells, and the bone of the pelvis?
The first experiments on shock-wave side effects, as they were then considered, were carried out on the pelvic bones of rabbits. Shock waves were applied as they would be for lithotripsy, and the pelvic bones were then examined under a microscope.
Researchers discovered small ruptures in the bone tissue. Bleeding and microdamage to the bone cells resembled, on a cellular level, what would occur in a fresh fracture. At first, this was of great concern. This new, wonderful procedure that could remove kidney stones without pain and surgery was also likely to cause blood-vessel damage and local microfractures. Was this going to be another situation where the problems associated with a cure were as bad or worse than the original condition?
Stimulate repair
Researchers followed the progress of the damage to the bone tissue, however, and found that, after the shock-wave trauma occurred, the osteocytes and osteoblasts of the affected bone showed increased activity. These cells are responsible for repairing damage to bone and for producing new bone to heal the damage. It is exactly these cells that the body needs to heal fractures and to heal any type of stress to the bone.
Shock waves seem to stimulate these cells, and the result is increased growth. Researchers then began to think of ways to apply this new information to conditions where bone growth was desirable.
Studies began in Bulgaria in the mid-1980s on the effects of shock waves on pseudoarthrosis, a disorder in the fracture-healing process where the body forms only a cartilage-like link between the fractured bone ends, but real stable bone callus does not form. Nonunion fractures fall into this category as well.
The first medical paper reporting on the use of shock-wave therapy for the healing of pseudoarthrosis was published in 1991, and other researchers soon confirmed the results.
They found that shock waves provided an effect similar to a fresh fracture on a tissue level. The body then seemed to recognize that healing in this area was still required and in many cases a bony link was formed. These studies showed that 60%-to-80% of all pseudoarthrosis cases could be healed completely with shock-wave therapy.
This information in turn caused other human orthopedic researchers to investigate shock-wave therapy use for a number of other conditions. Researchers in Hamburg, Germany, discovered that shock waves caused a decrease in pain in areas associated with bone-tendon connections. Shock waves seemed to relieve pain associated with shoulder injuries, tennis elbow, and heel spurs.
Further research indicated that shock waves might actually reduce the bony growths that develop at the areas where tendons and ligaments are inserted onto bone. In conditions such as tennis elbow and heel spurs, repeated trauma causes the bone to produce small, irregular growths known as osteophytes.
The body produces this bone material in an attempt to deal with the stress at that particular location. The buildup of this bone tissue causes more pain in the tendon or ligament, which must now move over these irregularly shaped, often irritating bone spurs. Shock waves reduce the pain in these areas and seem to resolve some of the excessive bone growth.
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