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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