Wade Hayes poses for a publicity shot before his diagnosis. STORY HIGHLIGHTS Country singer Wade Hayes was diagnosed with stage IV colon cancer in November Hayes is 42 years old and has no family history of gastrointestinal disease Colorectal cancer is the third leading cause of cancer death in both men and women (CNN) — He thought the bleeding was a hemorrhoid, brought on by a strenuous weightlifting session at the gym. He thought the fatigue was due to his life on the road, performing coast-to-coast with the band Alabama’s lead singer, Randy Owen. He thought at 42, he was too young to get a colonoscopy. Then the excruciating pain hit. Wade Hayes, the country musician best known for his No. 1 hit “Old Enough to Know Better,” spent Thanksgiving in the hospital. His intestine had collapsed in on itself — a condition called intussusception. Intussusception blocks food and liquid from passing through the intestine and cuts off the blood supply to the rest of the digestive tract, according to the Mayo Clinic. Normally found in children, it’s rare in adults unless caused by an underlying condition. For Hayes, that underlying condition was stage IV colon cancer. Doctors discovered a large tumor had caused the collapse. And that wasn’t the end of the bad news. You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis.Mike Robertson, Hayes’ manager The cancer had metastasized, or spread. Surgeons removed approximately 70% of Hayes’ liver and more than 20 inches of his large intestine. “You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis,” says Hayes’ manager, Mike Robertson. “There was a part of me that was going, ‘Surely this can’t be happening.’ ” Colorectal cancer — often referred to as colon cancer — is the third leading cause of cancer death in both men and women, according to the American Cancer Society. It’s also the most preventable. Colorectal cancer usually develops slowly, over the course of 10 to 15 years, from noncancerous polyps. Approximately 90% of new cases occur in people over the age of 50. The American Cancer Society recommends colonoscopies every 10 years for people beginning at that age, unless they have high risk factors such as a family history of colorectal cancer or another gastrointestinal disease. Colonoscopies can spot and remove polyps before they become malignant. Coming clean about my first colonoscopy “Oftentimes, [colorectal cancer] has no symptoms,” says Dr. Paul Limburg, a gastrointestinal cancer prevention specialist at the Mayo Clinic who has not treated Hayes. “The most important message is that people really should understand that screening should be done regularly. It could make a substantial difference in the number of lives saved.” Hayes had no family history of gastrointestinal disease, which is one of the reasons he ignored his symptoms for so long. In fact, when he walked into the hospital in November, he was in better shape than everyone in the waiting room, Robertson remembers. Since then, Hayes has lost 50 pounds and is struggling to regain a sense of normalcy through multiple rounds of chemotherapy. He’s fighting an uphill battle — a 2004 study published in the Journal of the National Cancer Institute estimated the five-year survival rate for stage IV colon cancer to be 8.1%, and an institute study of cancer data put the survival rate at 6%. “It hurts like hell,” Hayes says of his recovery. “I always thought of myself as a man’s man, but I just discovered what a wuss I am.” Wade Hayes performs at the Stars Go Blue For Colon Cancer benefit on March 6, 2012. Thankfully, Hayes is anything but alone in Nashville. Willie Nelson called from Hawaii to wish him well. Kix Brooks helped him connect with the best doctors in the city. Jay DeMarcus from Rascal Flatts arranged for a private room at Vanderbilt hospital. “That part of it has been really shocking for me. I had no idea how many people cared about me or even knew I existed.” Robertson says that’s the kind of person Hayes is — modest to a fault; an introvert who enjoys reading detective dramas and has no desire to just sit around. Hayes lives with his dog, Jack, a boxer he found as a stray, eating out of the garbage at a filling station 75 miles from Nashville. He loaded the starving, tick-covered dog into the back of his truck and took him home, where Jack proceeded to chew on everything in sight. “He’s very lovable but a pain the ass — just like me,” Hayes says with a laugh. Hayes’ scans were clear of tumors in early March. But the musician still has four more months of chemotherapy to go. Chemo has left his hands and mouth incredibly sensitive. Food tastes funny, and touching anything cold feels like “being electrocuted.” Some days, he has trouble gripping his guitar. He performed at the Stars Go Blue benefit concert for Colorectal Cancer Awareness Month on March 6 but had trouble singing because of the chemo’s effects on his vocal cords. If I had caught it early, I wouldn’t be where I am now.Wade Hayes He’s eager to get back to writing music, but the chemotherapy chemicals invading his body make it difficult to concentrate. “He’s seen something taken away that he’s very passionate to get back to,” Robertson says of Hayes’ impatience. “He’s always bounced back from everything. I think he thought he’d have the surgery, and then. … The recovery has taken longer than he expected.” Still, Hayes is doing his best to help the process along. Studies have shown that environmental and dietary factors can influence your risk of colorectal cancer, according to Limburg. A low-fat, high-fiber diet is good, as is regular exercise. “In general, things that are healthy overall, are healthy for your colon,” Limburg says. So Hayes is eating less red meat, more fruits and vegetables. He’s sold his house in the city and is hoping to buy a small farm in the country. Most importantly, he’s speaking out about getting screened early and often. “If I had caught
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Musician battles stage IV colon cancer
Wade Hayes poses for a publicity shot before his diagnosis. STORY HIGHLIGHTS Country singer Wade Hayes was diagnosed with stage IV colon cancer in November Hayes is 42 years old and has no family history of gastrointestinal disease Colorectal cancer is the third leading cause of cancer death in both men and women (CNN) — He thought the bleeding was a hemorrhoid, brought on by a strenuous weightlifting session at the gym. He thought the fatigue was due to his life on the road, performing coast-to-coast with the band Alabama’s lead singer, Randy Owen. He thought at 42, he was too young to get a colonoscopy. Then the excruciating pain hit. Wade Hayes, the country musician best known for his No. 1 hit “Old Enough to Know Better,” spent Thanksgiving in the hospital. His intestine had collapsed in on itself — a condition called intussusception. Intussusception blocks food and liquid from passing through the intestine and cuts off the blood supply to the rest of the digestive tract, according to the Mayo Clinic. Normally found in children, it’s rare in adults unless caused by an underlying condition. For Hayes, that underlying condition was stage IV colon cancer. Doctors discovered a large tumor had caused the collapse. And that wasn’t the end of the bad news. You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis.Mike Robertson, Hayes’ manager The cancer had metastasized, or spread. Surgeons removed approximately 70% of Hayes’ liver and more than 20 inches of his large intestine. “You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis,” says Hayes’ manager, Mike Robertson. “There was a part of me that was going, ‘Surely this can’t be happening.’ ” Colorectal cancer — often referred to as colon cancer — is the third leading cause of cancer death in both men and women, according to the American Cancer Society. It’s also the most preventable. Colorectal cancer usually develops slowly, over the course of 10 to 15 years, from noncancerous polyps. Approximately 90% of new cases occur in people over the age of 50. The American Cancer Society recommends colonoscopies every 10 years for people beginning at that age, unless they have high risk factors such as a family history of colorectal cancer or another gastrointestinal disease. Colonoscopies can spot and remove polyps before they become malignant. Coming clean about my first colonoscopy “Oftentimes, [colorectal cancer] has no symptoms,” says Dr. Paul Limburg, a gastrointestinal cancer prevention specialist at the Mayo Clinic who has not treated Hayes. “The most important message is that people really should understand that screening should be done regularly. It could make a substantial difference in the number of lives saved.” Hayes had no family history of gastrointestinal disease, which is one of the reasons he ignored his symptoms for so long. In fact, when he walked into the hospital in November, he was in better shape than everyone in the waiting room, Robertson remembers. Since then, Hayes has lost 50 pounds and is struggling to regain a sense of normalcy through multiple rounds of chemotherapy. He’s fighting an uphill battle — a 2004 study published in the Journal of the National Cancer Institute estimated the five-year survival rate for stage IV colon cancer to be 8.1%, and an institute study of cancer data put the survival rate at 6%. “It hurts like hell,” Hayes says of his recovery. “I always thought of myself as a man’s man, but I just discovered what a wuss I am.” Wade Hayes performs at the Stars Go Blue For Colon Cancer benefit on March 6, 2012. Thankfully, Hayes is anything but alone in Nashville. Willie Nelson called from Hawaii to wish him well. Kix Brooks helped him connect with the best doctors in the city. Jay DeMarcus from Rascal Flatts arranged for a private room at Vanderbilt hospital. “That part of it has been really shocking for me. I had no idea how many people cared about me or even knew I existed.” Robertson says that’s the kind of person Hayes is — modest to a fault; an introvert who enjoys reading detective dramas and has no desire to just sit around. Hayes lives with his dog, Jack, a boxer he found as a stray, eating out of the garbage at a filling station 75 miles from Nashville. He loaded the starving, tick-covered dog into the back of his truck and took him home, where Jack proceeded to chew on everything in sight. “He’s very lovable but a pain the ass — just like me,” Hayes says with a laugh. Hayes’ scans were clear of tumors in early March. But the musician still has four more months of chemotherapy to go. Chemo has left his hands and mouth incredibly sensitive. Food tastes funny, and touching anything cold feels like “being electrocuted.” Some days, he has trouble gripping his guitar. He performed at the Stars Go Blue benefit concert for Colorectal Cancer Awareness Month on March 6 but had trouble singing because of the chemo’s effects on his vocal cords. If I had caught it early, I wouldn’t be where I am now.Wade Hayes He’s eager to get back to writing music, but the chemotherapy chemicals invading his body make it difficult to concentrate. “He’s seen something taken away that he’s very passionate to get back to,” Robertson says of Hayes’ impatience. “He’s always bounced back from everything. I think he thought he’d have the surgery, and then. … The recovery has taken longer than he expected.” Still, Hayes is doing his best to help the process along. Studies have shown that environmental and dietary factors can influence your risk of colorectal cancer, according to Limburg. A low-fat, high-fiber diet is good, as is regular exercise. “In general, things that are healthy overall, are healthy for your colon,” Limburg says. So Hayes is eating less red meat, more fruits and vegetables. He’s sold his house in the city and is hoping to buy a small farm in the country. Most importantly, he’s speaking out about getting screened early and often. “If I had caught it early, I wouldn’t be where I am now.” For more information on colorectal cancer, visit Cancer.org.
Musician battles stage IV colon cancer
Wade Hayes poses for a publicity shot before his diagnosis. STORY HIGHLIGHTS Country singer Wade Hayes was diagnosed with stage IV colon cancer in November Hayes is 42 years old and has no family history of gastrointestinal disease Colorectal cancer is the third leading cause of cancer death in both men and women (CNN) — He thought the bleeding was a hemorrhoid, brought on by a strenuous weightlifting session at the gym. He thought the fatigue was due to his life on the road, performing coast-to-coast with the band Alabama’s lead singer, Randy Owen. He thought at 42, he was too young to get a colonoscopy. Then the excruciating pain hit. Wade Hayes, the country musician best known for his No. 1 hit “Old Enough to Know Better,” spent Thanksgiving in the hospital. His intestine had collapsed in on itself — a condition called intussusception. Intussusception blocks food and liquid from passing through the intestine and cuts off the blood supply to the rest of the digestive tract, according to the Mayo Clinic. Normally found in children, it’s rare in adults unless caused by an underlying condition. For Hayes, that underlying condition was stage IV colon cancer. Doctors discovered a large tumor had caused the collapse. And that wasn’t the end of the bad news. You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis.Mike Robertson, Hayes’ manager The cancer had metastasized, or spread. Surgeons removed approximately 70% of Hayes’ liver and more than 20 inches of his large intestine. “You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis,” says Hayes’ manager, Mike Robertson. “There was a part of me that was going, ‘Surely this can’t be happening.’ ” Colorectal cancer — often referred to as colon cancer — is the third leading cause of cancer death in both men and women, according to the American Cancer Society. It’s also the most preventable. Colorectal cancer usually develops slowly, over the course of 10 to 15 years, from noncancerous polyps. Approximately 90% of new cases occur in people over the age of 50. The American Cancer Society recommends colonoscopies every 10 years for people beginning at that age, unless they have high risk factors such as a family history of colorectal cancer or another gastrointestinal disease. Colonoscopies can spot and remove polyps before they become malignant. Coming clean about my first colonoscopy “Oftentimes, [colorectal cancer] has no symptoms,” says Dr. Paul Limburg, a gastrointestinal cancer prevention specialist at the Mayo Clinic who has not treated Hayes. “The most important message is that people really should understand that screening should be
Musician battles stage IV colon cancer
Wade Hayes poses for a publicity shot before his diagnosis. STORY HIGHLIGHTS Country singer Wade Hayes was diagnosed with stage IV colon cancer in November Hayes is 42 years old and has no family history of gastrointestinal disease Colorectal cancer is the third leading cause of cancer death in both men and women (CNN) — He thought the bleeding was a hemorrhoid, brought on by a strenuous weightlifting session at the gym. He thought the fatigue was due to his life on the road, performing coast-to-coast with the band Alabama’s lead singer, Randy Owen. He thought at 42, he was too young to get a colonoscopy. Then the excruciating pain hit. Wade Hayes, the country musician best known for his No. 1 hit “Old Enough to Know Better,” spent Thanksgiving in the hospital. His intestine had collapsed in on itself — a condition called intussusception. Intussusception blocks food and liquid from passing through the intestine and cuts off the blood supply to the rest of the digestive tract, according to the Mayo Clinic. Normally found in children, it’s rare in adults unless caused by an underlying condition. For Hayes, that underlying condition was stage IV colon cancer. Doctors discovered a large tumor had caused the collapse. And that wasn’t the end of the bad news. You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis.Mike Robertson, Hayes’ manager The cancer had metastasized, or spread. Surgeons removed approximately 70% of Hayes’ liver and more than 20 inches of his large intestine. “You just don’t expect a man in his young 40s, who was perfectly healthy in every other way, to get this kind of diagnosis,” says Hayes’ manager, Mike Robertson. “There was a part of me that was going, ‘Surely this can’t be happening.’ ” Colorectal cancer — often referred to as colon cancer — is the third leading cause of cancer death in both men and women, according to the American Cancer Society. It’s also the most preventable. Colorectal cancer usually develops slowly, over the course of 10 to 15 years, from noncancerous polyps. Approximately 90% of new cases occur in people over the age of 50. The American Cancer Society recommends colonoscopies every 10 years for people beginning at that age, unless they have high risk factors such as a family history of colorectal cancer or another gastrointestinal disease. Colonoscopies can spot and remove polyps before they become malignant. Coming clean about my first colonoscopy “Oftentimes, [colorectal cancer] has no symptoms,” says Dr. Paul Limburg, a gastrointestinal cancer prevention specialist at the Mayo Clinic who has not treated Hayes. “The most important message is that people really should understand that screening should be done regularly. It could make a substantial difference in the number of lives saved.” Hayes had no family history of gastrointestinal disease, which is one of the reasons he ignored his symptoms for so long. In fact, when he walked into the hospital in November, he was in better shape than everyone in the waiting room, Robertson remembers. Since then, Hayes has lost 50 pounds and is struggling to regain a sense of normalcy through multiple rounds of chemotherapy. He’s fighting an uphill battle — a 2004 study published in the Journal of the National Cancer Institute estimated the five-year survival rate for stage IV colon cancer to be 8.1%, and an institute study of cancer data put the survival rate at 6%. “It hurts like hell,” Hayes says of his recovery. “I always thought of myself as a man’s man, but I just discovered what a wuss I am.” Wade Hayes performs at the Stars Go Blue For Colon Cancer benefit on March 6, 2012. Thankfully, Hayes is anything but alone in Nashville. Willie Nelson called from Hawaii to wish him well. Kix Brooks helped him connect with the best doctors in the city. Jay DeMarcus from Rascal Flatts arranged for a private room at Vanderbilt hospital. “That part of it has been really shocking for me. I had no idea how many people cared about me or even knew I existed.” Robertson says that’s the kind of person Hayes is — modest to a fault; an introvert who enjoys reading detective dramas and has no desire to just sit around. Hayes lives with his dog, Jack, a boxer he found as a stray, eating out of the garbage at a filling station 75
Rare disease identified in infant
Brantley Jacobs has been diagnosed with Klippel-Trenaunay syndrome. STORY HIGHLIGHTS Brantley was born with 25% of his birth weight coming from a malformed leg Young parents are usually the people who have to deal with rare diseases In cases like these, parents often feel frustrated and helpless (CNN) — Haleigh Jacobs and her husband, David, have spent the last two months in the hospital, hovering over their 8-pound newborn, Brantley. He has yet to spend a day outside the incubator, smell fresh air or go home to meet his siblings. Brantley’s right leg juts out like a reddish brown lump of flesh that is thicker than his torso. His toes, indistinguishable from each other, look like dimples. The leg is studded with damaged blood vessels, veins and capillaries that look like raisins. Another lump protrudes from his abdomen. “It is frustrating,” his mother said. “For one, being a parent, you feel helpless, and then, you’ve got a baby that’s hurting.” But this is an improvement from what Brantley has endured. He had a rectal tear that spontaneously gushed blood and fluids. That has been healing. For families dealing with rare diseases, the road to a diagnosis is a long, winding one, riddled with confusion, complications and expenses. Although pop culture has left an impression that there is a genius doctor somewhere, like the fictional Dr. House who can identify and cure rare diseases, the reality is far different. After the diagnosis, the lack of answers or effective treatment can be completely unsatisfying. “Two-thirds of the people with rare diseases are children, because these are genetic diseases,” said Mary Dunkle, the vice president for communications at the National Organization for Rare Disorders. “It’s very often young parents with a new baby and they’re very, very worried and very much in unfamiliar territory.” On December 28, the Jacobses, who are from Blanchard, Oklahoma, welcomed their second son. Brantley Lane Jacobs was born eight weeks early. “I didn’t get to see him,” Haleigh Jacobs said, about after the birth. “But I saw his leg. It was hard not to see his leg. … I started bawling.” Brantley weighed 4 pounds, 3 ounces. His leg weighed 1 pound. Haleigh Jacobs cuddles her 2-month-old son, Brantley, who has severe medical problems. The leg had puffed up because of a buildup of blood vessels, called hemangioma. The skin of his legs had stretched thin to encase the increasing swelling and had become fragile like a burn patient’s. The leg required constant wrapping and moisturizing to prevent chapping and bleeding. Jacobs had learned before giving birth there was something unusual about her third baby. Twenty-one weeks into her pregnancy, she and her husband went to get an ultrasound to find out whether the baby was a boy or a girl. The specialists noticed an unusual lump on the fetus. When he was delivered, Brantley’s physical state was perplexing. The doctors were baffled, Jacobs said. The swelling on Brantley’s leg kept growing. Every time Brantley was moved or his leg touched, he would wince or scream. The hole near his rectum would bleed whenever someone tried to wipe him during a diaper change. Brantley has never been breastfed, because he’s too fragile. His mother gingerly feeds him with a bottle, worried that any jerks or sudden movements could bother his skin. His doctors in Oklahoma called specialists and sent images and test results to other pediatricians and specialists around the country. Maybe, one of the doctor speculated, Brantley had Klippel-Trenaunay syndrome, a rare childhood genetic disease. Another doctor suggested it could be CLOVES Syndrome, another rare vascular disease that causes malformations and has only been found in 80 people. Another doctor thought it could be a combination of both diseases, possibly a new condition. There are almost 7,000 rare diseases in the United States, according to the National Organization for Rare Disorders. The swelling in Brantley’s leg increased after birth. These tend to be complex diseases,” said Dunkle. “It’s really not in any way bashing the professional medical community. People have a hard time getting a diagnosis, it’s obviously distressing and difficult for families and patients.” The parents wanted to find someone who could help their son. Haleigh Jacobs e-mailed doctors and worked with doctors in Oklahoma to get referrals to other hospitals. In mid-February, Brantley was referred to Arkansas Children’s Hospital in Little Rock. Jacobs took a leave from her job as a dispatcher for the police department and so did her husband, who works for a company that locates and marks underground gas and electric lines. Families are often encouraged to go to teaching hospitals on the theory that they will have a better chance there of interacting with medical professionals who may have seen something similar to their situations. When Brantley arrived in Arkansas, the diagnosis was Klippel-Trenaunay syndrome, a rare disorder that appears in one in 100,000 children, said Dr. Gresham Richter, associate professor at the University of Arkansas for medical sciences. Richter sees about 30 cases a year at the hospital. The way Brantley presented with the disease was so unusual Richter said he has only seen it in two other patients. Some Klippel-Trenaunay patients have internal bleeding because of the malformation of blood vessels in organs such as the liver, heart, lungs and rectum. They usually have port wine marks on the skin and the growth of masses of blood vessels and varicose veins. “It’s usually a cutaneous birthmark that is red and inflamed. It becomes bigger and bigger,” Richter said. “It usually does not appear at birth like Brantley’s does. It’s a rare form of KTS, and the one that is most dangerous because it grows very quickly.” The swelling in Brantley’s leg is caused by accumulating lymphatic fluids collecting in his leg. The muscles, tendons and bones in Brantley’s right leg are being infiltrated, Richter said. There is no cure for the disease, which is often the case when dealing with rare diagnoses. “The worst thing is to get a diagnosis and find out there’s no treatment, no support group,” Dunkle said. Sometimes that’s how patient advocacy groups are formed, she added. Although the appearance of Klippel-Trenaunay syndrome is shocking, Richter said patients can have a normal life expectancy. Brantley will need laser surgery continually to remove the damaged blood vessels in his leg. The surgery does not address the underlying cause of the disease, which is believed to be genetic. His leg will have to be amputated at some point, Richter said. Brantley’s parents are seeking a second opinion and another hospital as they contemplate their next step. They brought Brantley home for the first time this week. But the homecoming has been overshadowed by a looming medical decision. “We have been going back and forth,” she said. “Do we tell them to take the leg? Is he going to be mad at us when he gets older?” Her husband added that when they first learned of the malformation during pregnancy, they were given two options: abort Brantley or give birth and see what happens. “That was an easy decision on our part,” he said. “This whole leg amputation, it has been left up to us. That’s a tough decision because the decisions we have to make have nothing to do with us. It’s for the betterment of him. Do we leave the leg and hope someone can fix it three or four years down the line?”
Rare disease identified in infant
Brantley Jacobs has been diagnosed with Klippel-Trenaunay syndrome. STORY HIGHLIGHTS Brantley was born with 25% of his birth weight coming from a malformed leg Young parents are usually the people who have to deal with rare diseases In cases like these, parents often feel frustrated and helpless (CNN) — Haleigh Jacobs and her husband, David, have spent the last two months in the hospital, hovering over their 8-pound newborn, Brantley. He has yet to spend a day outside the incubator, smell fresh air or go home to meet his siblings. Brantley’s right leg juts out like a reddish brown lump of flesh that is thicker than his torso. His toes, indistinguishable from each other, look like dimples. The leg is studded with damaged blood vessels, veins and capillaries that look like raisins. Another lump protrudes from his abdomen. “It is frustrating,” his mother said. “For one, being a parent, you feel helpless, and then, you’ve got a baby that’s hurting.” But this is an improvement from what Brantley has endured. He had a rectal tear that spontaneously gushed blood and fluids. That has been healing. For families dealing with rare diseases, the road to a diagnosis is a long, winding one, riddled with confusion, complications and expenses. Although pop culture has left an impression that there is a genius doctor somewhere, like the fictional Dr. House who can identify and cure rare diseases, the reality is far different. After the diagnosis, the lack of answers or effective treatment can be completely unsatisfying. “Two-thirds of the people with rare diseases are children, because these are genetic diseases,” said Mary Dunkle, the vice president for communications at the National Organization for Rare Disorders. “It’s very often young parents with a new baby and they’re very, very worried and very much in unfamiliar territory.” On December 28, the Jacobses, who are from Blanchard, Oklahoma, welcomed their second son. Brantley Lane Jacobs was born eight weeks early. “I didn’t get to see him,” Haleigh Jacobs said, about after the birth. “But I saw his leg. It was hard not to see his leg. … I started bawling.” Brantley weighed 4 pounds, 3 ounces. His leg weighed 1 pound. Haleigh Jacobs cuddles her 2-month-old son, Brantley, who has severe medical problems. The leg had puffed up because of a buildup of blood vessels, called hemangioma. The skin of his legs had stretched thin to encase the increasing swelling and had become fragile like a burn patient’s. The leg required constant wrapping and moisturizing to prevent chapping and bleeding. Jacobs had learned before giving birth there was something unusual about her third baby. Twenty-one weeks into her pregnancy, she and her husband went to get an ultrasound to find out whether the baby was a boy or a girl. The specialists noticed an unusual lump on the fetus. When he was delivered, Brantley’s physical state was perplexing. The doctors were baffled, Jacobs said. The swelling on Brantley’s leg kept growing. Every time Brantley was moved or his leg touched, he would wince or scream. The hole near his rectum would bleed whenever someone tried to wipe him during a diaper change. Brantley has never been breastfed, because he’s too fragile. His mother gingerly feeds him with a bottle, worried that any jerks or sudden movements could bother his skin. His doctors in Oklahoma called specialists and sent images and test results to other pediatricians and specialists around the country. Maybe, one of the doctor speculated, Brantley had Klippel-Trenaunay syndrome, a rare childhood genetic disease. Another doctor suggested it could be CLOVES Syndrome, another rare vascular disease that causes malformations and has only been found in 80 people. Another doctor thought it could be a combination of both diseases, possibly a new condition. There are almost 7,000 rare diseases in the United States, according to the National Organization for Rare Disorders. The swelling in Brantley’s leg increased after birth. These tend to be complex diseases,” said Dunkle. “It’s really not in any way bashing the professional medical community. People have a hard time getting a diagnosis, it’s obviously distressing and difficult for families and patients.” The parents wanted to find someone who could help their son. Haleigh Jacobs e-mailed doctors and worked with doctors in Oklahoma to get referrals to other hospitals. In mid-February, Brantley was referred to Arkansas Children’s Hospital in Little Rock. Jacobs took a leave from her job as a dispatcher for the police department and so did her husband, who works for a company that locates and marks underground gas and electric lines. Families are often encouraged to go to teaching hospitals on the theory that they will have a better chance there of interacting with medical professionals who may have seen something similar to their situations. When Brantley arrived in Arkansas, the diagnosis was Klippel-Trenaunay syndrome, a rare disorder that appears in one in 100,000 children, said Dr. Gresham Richter, associate professor at the University of Arkansas for medical sciences. Richter sees about 30 cases a year at the hospital. The way Brantley presented with the disease was so unusual Richter said he has only seen it in two other patients. Some Klippel-Trenaunay patients have internal bleeding because of the malformation of blood vessels in organs such as the liver, heart, lungs and rectum. They usually have port wine marks on the skin and the growth of masses of blood vessels and varicose veins. “It’s usually a cutaneous birthmark that is red and inflamed. It becomes bigger and bigger,” Richter said. “It usually does not appear at birth like Brantley’s does. It’s a rare form of KTS, and the one that is most dangerous because it grows very quickly.” The swelling in Brantley’s leg is caused by accumulating lymphatic fluids collecting in his leg. The muscles, tendons and bones in Brantley’s right leg are being infiltrated, Richter said. There is no cure for the disease, which is often the case when dealing with rare diagnoses. “The worst thing is to get a diagnosis and find out there’s no treatment, no support group,” Dunkle said. Sometimes that’s how patient advocacy groups are formed, she added. Although the appearance of Klippel-Trenaunay syndrome is shocking, Richter said patients can have a normal life expectancy. Brantley will need laser surgery continually to remove the damaged blood vessels in his leg. The surgery does not address the underlying cause of the disease, which is believed to be genetic. His leg will have to be amputated at some point, Richter said. Brantley’s parents are seeking a second opinion and another hospital as they contemplate their next step. They brought Brantley home for the first time this week. But the homecoming has been overshadowed by a looming medical decision. “We have been going back and forth,” she said. “Do we tell them to take the leg? Is he going to be mad at us when he gets older?” Her husband added that when they first learned of the malformation during pregnancy, they were
Rare disease identified in infant
Brantley Jacobs has been diagnosed with Klippel-Trenaunay syndrome. STORY HIGHLIGHTS Brantley was born with 25% of his birth weight coming from a malformed leg Young parents are usually the people who have to deal with rare diseases In cases like these, parents often feel frustrated and helpless (CNN) — Haleigh Jacobs and her husband, David, have spent the last two months in the hospital, hovering over their 8-pound newborn, Brantley. He has yet to spend a day outside the incubator, smell fresh air or go home to meet his siblings. Brantley’s right leg juts out like a reddish brown lump of flesh that is thicker than his torso. His toes, indistinguishable from each other, look like dimples. The leg is studded with damaged blood vessels, veins and capillaries that look like raisins. Another lump protrudes from his abdomen. “It is frustrating,” his mother said. “For one, being a parent, you feel helpless, and then, you’ve got a baby that’s hurting.” But this is an improvement from what Brantley has endured. He had a rectal tear that spontaneously gushed blood and fluids. That has been healing. For families dealing with rare diseases, the road to a diagnosis is a long, winding one, riddled with confusion, complications and expenses. Although pop culture has left an impression that there is a genius doctor somewhere, like the fictional Dr. House who can identify and cure rare diseases, the reality is far different. After the diagnosis, the lack of answers or effective treatment can be completely unsatisfying. “Two-thirds of the people with rare diseases are children, because these are genetic diseases,” said Mary Dunkle, the vice president for communications at the National Organization for Rare Disorders. “It’s very often young parents with a new baby and they’re very, very worried and very much in unfamiliar territory.” On December 28, the Jacobses, who are from Blanchard, Oklahoma, welcomed their second son. Brantley Lane Jacobs was born eight weeks early. “I didn’t get to see him,” Haleigh Jacobs said, about after the birth. “But I saw his leg. It was hard not to see his leg. … I started bawling.” Brantley weighed 4 pounds, 3 ounces. His leg weighed 1 pound. Haleigh Jacobs cuddles her 2-month-old son, Brantley, who has severe medical problems. The leg had puffed up because of a buildup of blood vessels, called hemangioma. The skin of his legs had stretched thin to encase the increasing swelling and had become fragile like a burn patient’s. The leg required constant wrapping and moisturizing to prevent chapping and bleeding. Jacobs had learned before giving birth there was something unusual about her third baby. Twenty-one weeks into her pregnancy, she and her husband went to get an ultrasound to find out whether the baby was a boy or a girl. The specialists noticed an unusual lump on the fetus. When he was delivered, Brantley’s physical state was perplexing. The doctors were baffled, Jacobs said. The swelling on Brantley’s leg kept growing. Every time Brantley was moved or his leg touched, he would wince or scream. The hole near his rectum would bleed whenever someone tried to wipe him during a diaper change. Brantley has never been breastfed, because he’s too fragile. His mother gingerly feeds him with a bottle, worried that any jerks or sudden movements could bother his skin. His doctors in Oklahoma called specialists and sent images and test results to other pediatricians and specialists around the country. Maybe, one of the doctor speculated, Brantley had Klippel-Trenaunay syndrome, a rare childhood genetic disease. Another doctor suggested it could be CLOVES Syndrome, another rare vascular disease that causes malformations and has only been found in 80 people. Another doctor thought it could be a combination of both diseases, possibly a new condition. There are almost 7,000 rare diseases in the United States, according to the National Organization for Rare Disorders. The swelling in Brantley’s leg increased after birth. These tend to be complex diseases,” said Dunkle. “It’s really not in any way bashing the professional medical community. People have a hard time getting a diagnosis, it’s obviously distressing and difficult for families and patients.” The parents wanted to find someone who could help their son. Haleigh Jacobs e-mailed doctors and worked with doctors in Oklahoma to get referrals to other hospitals. In mid-February, Brantley was referred to Arkansas Children’s Hospital in Little Rock. Jacobs took a leave from her job as a dispatcher for the police department and so did her husband, who works for a company that locates and marks underground gas and electric lines. Families
Rare disease identified in infant
Brantley Jacobs has been diagnosed with Klippel-Trenaunay syndrome. STORY HIGHLIGHTS Brantley was born with 25% of his birth weight coming from a malformed leg Young parents are usually the people who have to deal with rare diseases In cases like these, parents often feel frustrated and helpless (CNN) — Haleigh Jacobs and her husband, David, have spent the last two months in the hospital, hovering over their 8-pound newborn, Brantley. He has yet to spend a day outside the incubator, smell fresh air or go home to meet his siblings. Brantley’s right leg juts out like a reddish brown lump of flesh that is thicker than his torso. His toes, indistinguishable from each other, look like dimples. The leg is studded with damaged blood vessels, veins and capillaries that look like raisins. Another lump protrudes from his abdomen. “It is frustrating,” his mother said. “For one, being a parent, you feel helpless, and then, you’ve got a baby that’s hurting.” But this is an improvement from what Brantley has endured. He had a rectal tear that spontaneously gushed blood and fluids. That has been healing. For families dealing with rare diseases, the road to a diagnosis is a long, winding one, riddled with confusion, complications and expenses. Although pop culture has left an impression that there is a genius doctor somewhere, like the fictional Dr. House who can identify and cure rare diseases, the reality is far different. After the diagnosis, the lack of answers or effective treatment can be completely unsatisfying. “Two-thirds of the people with rare diseases are children, because these are genetic diseases,” said Mary Dunkle, the vice president for communications at the National Organization for Rare Disorders. “It’s very often young parents with a new baby and they’re very, very worried and very much in unfamiliar territory.” On December 28, the Jacobses, who are from Blanchard, Oklahoma, welcomed their second son. Brantley Lane Jacobs was born eight weeks early. “I didn’t get to see him,” Haleigh Jacobs said, about after the birth. “But I saw his leg. It was hard not to see his leg. … I started bawling.” Brantley weighed 4 pounds, 3 ounces. His leg weighed 1 pound. Haleigh Jacobs cuddles her 2-month-old son, Brantley, who has severe medical problems. The leg had puffed up because of a buildup of blood vessels, called hemangioma. The skin of his legs had stretched thin to encase the increasing swelling and had become fragile like a burn patient’s. The leg required constant wrapping and moisturizing to prevent chapping and bleeding. Jacobs had learned before giving birth there was something unusual about her third baby. Twenty-one weeks into her pregnancy, she and her husband went to get an ultrasound to find out whether the baby was a boy or a girl. The specialists noticed an unusual lump on the fetus. When he was delivered, Brantley’s physical state was perplexing. The doctors were baffled, Jacobs said. The swelling on Brantley’s leg kept growing. Every time Brantley was moved or his leg touched, he would wince or scream. The hole near his rectum would bleed whenever someone tried to wipe him during a diaper change. Brantley has never been breastfed, because he’s too fragile. His mother gingerly feeds him with a bottle, worried that any jerks or sudden movements could bother his skin. His doctors in Oklahoma called specialists and sent images and test results to other pediatricians and specialists around the country. Maybe, one of the doctor speculated, Brantley had Klippel-Trenaunay syndrome, a rare childhood genetic disease. Another doctor suggested it could be CLOVES Syndrome, another rare vascular disease that causes malformations and has only been found in 80 people. Another doctor thought it could be a combination of both diseases, possibly a new condition. There are almost 7,000 rare diseases in the United States, according to the National Organization for Rare Disorders. The swelling in Brantley’s leg increased after birth. These tend to be complex diseases,” said Dunkle. “It’s really not in any way bashing the professional medical community. People have a hard time getting a diagnosis, it’s obviously distressing and difficult for families and patients.” The parents wanted to find someone who could help their son. Haleigh Jacobs e-mailed doctors and worked with doctors in Oklahoma to get referrals to other hospitals. In mid-February, Brantley was referred to Arkansas Children’s Hospital in Little Rock. Jacobs took a leave from her job as a dispatcher for the police department and so did her husband, who works for a company that locates and marks underground gas and electric lines. Families are often encouraged to go to teaching hospitals on the theory that they will have a better chance there of interacting with medical professionals who may have seen something similar to their situations. When Brantley arrived in Arkansas, the diagnosis was Klippel-Trenaunay syndrome, a rare disorder that appears in one in 100,000 children, said Dr. Gresham Richter, associate professor at the University of Arkansas for medical sciences. Richter sees about 30 cases a year at the hospital. The way Brantley presented with the disease was so unusual Richter said he has only seen it in two other patients. Some Klippel-Trenaunay patients have internal bleeding because of the malformation of blood vessels in organs such as the liver, heart, lungs and rectum. They usually have port wine marks on the skin and the growth of masses of blood vessels and varicose veins. “It’s usually
Rare disease identified in infant
Brantley Jacobs has been diagnosed with Klippel-Trenaunay syndrome. STORY HIGHLIGHTS Brantley was born with 25% of his birth weight coming from a malformed leg Young parents are usually the people who have to deal with rare diseases In cases like these, parents often feel frustrated and helpless (CNN) — Haleigh Jacobs and her husband, David, have spent the last two months in the hospital, hovering over their 8-pound newborn, Brantley. He has yet to spend a day outside the incubator, smell fresh air or go home to meet his siblings. Brantley’s right leg juts out like a reddish brown lump of flesh that is thicker than his torso. His toes, indistinguishable from each other, look like dimples. The leg is studded with damaged blood vessels, veins and capillaries that look like raisins. Another lump protrudes from his abdomen. “It is frustrating,” his mother said. “For one, being a parent, you feel helpless, and then, you’ve got a baby that’s hurting.” But this is an improvement from what Brantley has endured. He had a rectal tear that spontaneously gushed blood and fluids. That has been healing. For families dealing with rare diseases, the road to a diagnosis is a long, winding one, riddled with confusion, complications and expenses. Although pop culture has left an impression that there is a genius doctor somewhere, like the fictional Dr. House who can identify and cure rare diseases, the reality is far different. After the diagnosis, the lack of answers or effective treatment can be completely unsatisfying. “Two-thirds of the people with rare diseases are children, because these are genetic diseases,” said Mary Dunkle, the vice president for communications at the National Organization for Rare Disorders. “It’s very often young parents with a new baby and they’re very, very worried and very much in unfamiliar territory.” On December 28, the Jacobses, who are from Blanchard, Oklahoma, welcomed their second son. Brantley Lane Jacobs was born eight weeks early. “I didn’t get to see him,” Haleigh Jacobs said, about after the birth. “But I saw his leg. It was hard not to see his leg. … I started bawling.” Brantley weighed 4 pounds, 3 ounces. His leg weighed 1 pound. Haleigh Jacobs cuddles her 2-month-old son, Brantley, who has severe medical problems. The leg had puffed up because of a buildup of blood vessels, called hemangioma. The skin of his legs had stretched thin to encase the increasing swelling and had become fragile like a burn patient’s. The leg required constant wrapping and moisturizing to prevent chapping and bleeding. Jacobs had learned before giving birth there was something unusual about her third baby
Rare disease identified in infant
Brantley Jacobs has been diagnosed with Klippel-Trenaunay syndrome. STORY HIGHLIGHTS Brantley was born with 25% of his birth weight coming from a malformed leg Young parents are usually the people who have to deal with rare diseases In cases like these, parents often feel frustrated and helpless (CNN) — Haleigh Jacobs and her husband, David, have spent the last two months in the hospital, hovering over their 8-pound newborn, Brantley. He has yet to spend a day outside the incubator, smell fresh air or go home to meet his siblings. Brantley’s right leg juts out like a reddish brown lump of flesh that is thicker than his torso. His toes, indistinguishable from each other, look like dimples. The leg is studded with damaged blood vessels, veins and capillaries that look like raisins. Another lump protrudes from his abdomen. “It is frustrating,” his mother said. “For one, being a parent, you feel helpless, and then, you’ve got a baby that’s hurting.” But this is an improvement from what Brantley has endured. He had a rectal tear that spontaneously gushed blood and fluids. That has been healing. For families dealing with rare diseases, the road to a diagnosis is a long, winding one, riddled with confusion, complications and expenses. Although pop culture has left an impression that there is a genius doctor somewhere, like the fictional Dr. House who can identify and cure rare diseases, the reality is far different. After the diagnosis, the lack of answers or effective treatment can be completely unsatisfying. “Two-thirds of the people with rare diseases are children, because these are genetic diseases,” said Mary Dunkle, the vice president for communications at the National Organization for Rare Disorders. “It’s very often young parents with a new baby and they’re very, very worried and very much in unfamiliar territory.” On December 28, the Jacobses, who are from Blanchard, Oklahoma, welcomed their second son. Brantley Lane Jacobs was born eight weeks early. “I didn’t get to see him,” Haleigh Jacobs said, about after the birth. “But I saw his leg. It was hard not to see his leg. … I started bawling.” Brantley weighed 4 pounds, 3 ounces. His leg weighed 1 pound. Haleigh Jacobs cuddles her 2-month-old son, Brantley, who has severe medical problems. The leg had puffed up because of a buildup of blood vessels, called hemangioma. The skin of his legs had stretched thin to encase the increasing swelling and had become fragile like a burn patient’s. The leg required constant wrapping and moisturizing to prevent chapping and bleeding. Jacobs had learned before giving birth there was something unusual about her third baby. Twenty-one weeks into her pregnancy, she and her husband went to get an ultrasound to find out whether the baby was a boy or a girl. The specialists noticed an unusual lump on the fetus. When he was delivered, Brantley’s physical state was perplexing. The doctors were baffled, Jacobs said. The swelling on Brantley’s leg kept growing. Every time Brantley was moved or his leg touched, he would wince or scream. The hole near his rectum would bleed whenever someone tried to wipe him during a diaper change. Brantley has never been breastfed, because he’s too fragile. His mother gingerly feeds him with a bottle, worried that any jerks or sudden movements could bother his skin. His doctors in Oklahoma called specialists and sent images and test results to other pediatricians and specialists around the country. Maybe, one of the doctor speculated, Brantley had Klippel-Trenaunay syndrome, a rare childhood genetic disease. Another doctor suggested it could be CLOVES Syndrome, another rare vascular disease that causes malformations and has only been found in 80 people. Another doctor thought it could be a combination of both diseases, possibly a new condition. There are almost 7,000 rare diseases in the United States, according to the National Organization for Rare Disorders. The swelling in Brantley’s leg increased after birth. These tend to be complex diseases,” said Dunkle. “It’s really not in any way bashing the professional medical community. People have a hard time getting a diagnosis, it’s obviously distressing and difficult for families and patients.” The parents wanted to find someone who could help their son. Haleigh Jacobs e-mailed doctors and worked with doctors in Oklahoma to get referrals to other hospitals. In mid-February, Brantley was referred to Arkansas Children’s Hospital in Little Rock. Jacobs took a leave from her job as a dispatcher for the police department and so did her husband, who works for a company that locates and marks underground gas and electric lines. Families are often encouraged to go to teaching hospitals on the theory that they will have a better chance there of interacting with medical professionals who may have seen something similar to their situations. When Brantley arrived in Arkansas, the diagnosis was Klippel-Trenaunay syndrome, a rare disorder that appears in one in 100,000 children, said Dr. Gresham Richter, associate professor at the University of Arkansas for medical sciences. Richter sees about 30 cases a year at the hospital. The way Brantley presented with the disease was so unusual Richter said he has only seen it in two other patients. Some Klippel-Trenaunay patients have internal bleeding because of the malformation of blood vessels in organs such as the liver, heart, lungs and rectum. They usually have port wine marks on the skin and the growth of masses of blood vessels and varicose veins. “It’s usually a cutaneous birthmark that is red and inflamed. It becomes bigger and bigger,” Richter said. “It usually does not appear at birth like Brantley’s does. It’s a rare form of KTS, and the one that is most dangerous because it grows very quickly.” The swelling in Brantley’s leg is caused by accumulating lymphatic fluids collecting in his leg. The muscles, tendons and bones in Brantley’s right leg are being infiltrated, Richter said. There is no cure for the disease, which is often the case when dealing with rare diagnoses. “The worst thing is to get a diagnosis and find out there’s no treatment, no support group,” Dunkle said. Sometimes that’s how patient advocacy groups are formed, she added. Although the appearance of Klippel-Trenaunay syndrome is shocking, Richter said patients can have a normal life expectancy. Brantley will need laser surgery continually to
