Kylie’s Story Comes Full Circle

dddddddThe tragic loss of Kylie “Ky” Von Ruden on July 15, 2012, came full circle on June 21, 2014, when James “Jim” Dougherty crossed the finished line of the second annual “Ky’s Run/Walk” with his arms raised high in honor of a young woman he never knew, but whose spirit lives on through him.

Dougherty, age 69, of Rockford, IL., got his second chance at life on July 16, 2012, the day after Kylie, age 17, died as a result of an automobile accident near Chaseburg. Her parents, Bruce and Shirley Von Ruden, signed an organ transplant release at the hospital before Kylie was disconnected from the life-support machines that were keeping her alive and she passed away.

In need of a kidney, Dougherty had been on the organ transplant list for two years and seven months. A retired surgeon, he had done all the research and completed all the health education classes in preparation for life on dialysis. With time running short he was days away from being placed on dialysis when, while visiting friends in Lake Geneva, he got the call that a donor kidney had been located. Within hours, he arrived at the medical center at UW-Madison, and was in the operating room receiving a gift of life from a beautiful stranger, whose tragic loss, became his silver lining.

In 1999, Dougherty was diagnosed with polycystic kidney disease (PKD), a cystic genetic kidney disorder, that dates back generations in the Dougherty family. PKD is one of the most common life-threatening

genetic diseases, affecting an estimated 12.5 million people worldwide. It is characterized by the growth of multiple cysts inside the kidneys. The numerous cysts are fluid-filled, resulting in massive enlargement of the kidneys, which eventually shut down the organs over time. The disease can also damage the liver, pancreas and in some rare cases, the heart and brain.

Dougherty was in his 50s when he began developing symptoms of PKD, but was not placed on the transplant list until 2011, when his health began deteriorating and he met the urgency criteria to be placed on the national transplant list. Having “O” positive blood, Dougherty, landed on the longest waiting list for an organ transplant.

“They told me it could take 2.5 years and it was 2 years, 7 months,” Dougherty said.

In an untypical twist, his wife, Jeannine, was actually a transplant match for her husband, but after suffering breast cancer herself years earlier, doctors felt the best option for Jim was to placed on the transplant list.

Within five days of the surgery, Dougherty, was out of the hospital and feeling like a new man. His body accepted Kylie’s kidney and with the right mix of anti-rejection medication the priceless gift he received should last him a lifetime.

Shortly after returning home, Dougherty, received a special letter from the hospital. The letter, although censored for privacy reasons, was from Bruce and Shirley VonRuden, who at the time they agreed to transplant Kylie’s organs had requested to know who the recipient’s of her kidneys, provided there was mutual consent from the receiving party.

In his heart, Dougherty knew his blessing was the result of another person’s loss and he felt compelled to reach out to the family. With pen in hand, he tried to put into words his gratitude and exchanged a few letters with the family, even suggesting the chance to meet them.

Still grieving their tragic loss, the VonRuden’s weren’t ready for a face-to-face meeting early on. The emotional roller coaster they had traveled since Kylie’s death would require more time to heal. The healing process reached the next level last month, when Bruce and Shirley, shook hands and exchanged hugs with Dougherty at a Madison restaurant where they had agreed to meet.

The heartfelt exchange lasted for hours as the Dougherty family learned more about the young woman who gave Jim his second chance at life and the VonRuden family learned more about the man their beloved daughter is living on through.

“It was a very emotional meeting, but filled with love, hope and gratitude. She must have been an amazing woman, because she has an amazing family,” Dougherty said.

To honor Kylie and her family, Jim and Jeannine participated in the second annual “Ky’s Run/Walk” in Chaseburg, on Saturday, June 21. They walked the 3.1 miles and crossed the finish line with pride. The event doubled the population of the community for a single day as Ky’s family, friends, classmates, neighbors and strangers celebrated the life of a young woman, whose short life now lives on through the transplant recipients she has given a second chance at living to.

“It’s like the bookends on the end of a story. No words can ever express how grateful and honored I am to have been the recipient of Kylie’s kidney. I am blessed,” Dougherty said.

Source: Westby Times

Shelton Teenager Wages Battle Against Moyamoya Disease

Susan Hunter

3344er34In Japanese, moyamoya is a beautiful sounding word, meaning “puff of smoke.”

But for Anna May, 18, a senior ready to graduate from Shelton High School, the word stands for a brain disease that manifested itself just this year and has made her life anything but beautiful.

“I was 17 when it hit me,” Anna said.

It was in January — the morning of her AP psychology exam — and she woke up with poor vision. As she took the exam, things got worse.

“I saw blackness around the words on the paper,” Anna said. “It was very scary.”

Her parents, Julia and Rob May, picked her up from school, and within a few hours she couldn’t control the movements in her limbs.

“She was twitchy,” Julia May said. “Her arms would go up over her head.”

Her parents rushed her to the emergency room at Bridgeport Hospital, where she had a CAT scan that showed “patches” of gray shadows in her brain.

She went immediately to Yale-New Haven Hospital, but it took four days for specialists to determine that she was suffering from moyamoya disease, a rare, hereditary, progressive disorder caused by narrowing and blocked arteries at the base of the brain.

Angiogram results

An angiogram showed that her brain had masses of tiny vessels that look like puffs of smoke, Julia May said, and the vessels are formed to compensate for the blockage.

In contrast to Anna’s neural network, a normal brain has several large arteries that carry blood to all areas.

Anna’s mother Julia describes the difference in terms of roadways. “We have I-95; she has suburbia,” she said.

Her brain had been working for years to put together the makeshift network.

Wanted to operate immediately

Yale-New Haven doctors wanted to operate on Anna immediately, but instead, her family sent angiogram images overnight to moyamoya specialists in Boston, Cincinnati and Palo Alto, Calif.

Because the disease occurs predominantly in Japanese and other Asian people, Dr. Gary Steinberg at Stanford Hospital in Palo Alto treats many patients who cross the Pacific Ocean for help, Julia May said.

Two surgeries in California

The Mays flew to California in a snowstorm, and Anna underwent her first surgery a few days later, on Feb. 5, with follow-up surgery on Feb. 20. The revascularization of her brain, using vessels from the back of her head, aimed to create blood flow that had been lost.

She also underwent 12 MRIs that were excruciating for her, because the pounding noise of the machine intensified her headaches and it was difficult for her to remain still during the procedure, because she couldn’t control her muscles.

And then there were the side effects of the surgeries, including vomiting and nerve pain that Anna compared to a “bug zapper.”

“She is so brave,” her mother said.

For Anna, courage alone isn’t enough. She believes it’s her mission to educate people about moyamoya.

“I plan to be an advocate,” she said. “I want to bring awareness about the disease.”

Little research on the disease

According to statistics, one in every two million people are born annually with the disease worldwide, Anna said. But because there has been so little research and funding, there may be many people who are undiagnosed.

There could be as many as one in 200,000 people born with moyamoya, she said, and currently, only 200 people in the United States are diagnosed with the ailment each year.

In addition, many doctors don’t know enough about the disease to look for telltale signs such as the gray shadows on a CAT scan, Anna said.

Seek help if have symptoms

She urges people with symptoms to seek help. “I had symptoms years ago,” Anna said. “My hand would cramp up and my handwriting suffered and became chicken scratch. I couldn’t grip the pen, and I would stress out before AP exams.”

From time to time, her speech would become slurred, she said, and the slurring was noticeable when she ate with friends at a diner this past year. “I thought it was from lack of sleep,” Anna said.

Persistent headaches were treated with migraine medication.

She now knows that the lack of blood flow caused by the disease affects speaking and movement, and the trouble she had with the right side of her body reflects impairment in the left side of her brain.

Impacts children

The disease, for which there is no cure, usually manifests itself in children between the ages of 7 and 8.

Because of Anna’s late diagnosis, the disease gained more of a foothold, and her recovery may be slower, Julia May said.

“We believe [the surgeries were] a success,” she said. “The prognosis is good. If you don’t have surgery, you’re at risk for a catastrophic stroke. She was at the end. We outran the stroke.”

Anna “still has issues,” her mother said, including headaches, extreme fatigue and nerve pain.

These should resolve themselves, she said. Anna’s new neural network “is like rooting grass,” her mother said. “It’s becoming stronger.”

‘Going to be a part of me’

Anna has to drink 16 ounces of fluid every two hours to hydrate her brain, and she has to keep an eye out for stroke-like symptoms for the next several months.

“Moyamoya is always going to be a part of me,” she said. “I want to make sure it doesn’t become me. Now I have a direction. I want to help people. I want to be hands-on.”

She’s considering a career in nonprofit organizations or public relations in the human services field, or a position such as a child life specialist within a hospital setting.

Appreciation for support of others

The Mays stayed at the Ronald McDonald House in Palo Alto at no cost for six weeks during the time of Anna’s surgeries.

Staying there with others going through serious illnesses gave Anna a boost. “I felt like wasn’t alone,” she said.

Julia May’s mother from Georgia stayed with Anna’s younger sisters, Lily, 8, and Maggie, 16, while Anna and her mother were in California, and Anna’s father flew from coast to coast for the surgeries in between business trips.

The letters Anna received daily from her friends at Shelton High were “encouraging,” her mother said. “It helped her spirits so far from home.”

Beth Smith, Shelton High headmaster, was “very accommodating,” Julia May said, and was “very involved in Anna’s progress. She rallied the students.”

Casey Degennaro, Anna’s high school guidance counselor, also took a personal interest in her recovery and progress, Julia said.

Tie-dyed wristband fund-raiser

Tie-dyed wristbands are being sold to raise money to help the May family with extensive medical expenses. Each surgery cost $300,000, and health insurance doesn’t cover the entire expense.

Fund-raisers have been conducted during Anna Day at Booth Hill Elementary School and Pajama Day at Shelton Intermediate School.

And Anna, described as “a giver” by her classmates, was helping others even while she was suffering, by making baby blankets for children in Stanford Hospital.

“She wanted to give back,” her mother said.

World Moyamoya Day was May 6

The second annual World Moyamoya Day on May 6 aimed to raise awareness about the disease and collect 10,000 signatures to push for more funding, Anna said.

As the school year moves to its conclusion, Anna is trying to participate in as many activities as possible.

A varsity tennis player, she played in two matches this spring, participated in a 5K race with her boyfriend, attended some classes in person and resumed a part-time job.

She’ll have a follow-up medical examination in August and wants to attend the University of New Hampshire this fall.

“We still have hurdles to overcome,” said Julia May, but her daughter’s attitude helps her carry on. “She’s a very ambitious kid,” Julia May said.

Source: Shelton Herald

Group Doctor Visits May Improve Life for People With Muscle Disorders

A new study suggests that people with muscle diseases such as muscular dystrophies may benefit more from group doctor visits than individual appointments. The study is published in the June 18, 2014, online issue of Neurology®, the medical journal of the American Academy of Neurology.

“In this age when the demand for neurologists is rising faster than the supply and health care costs continue to rise, it’s important to look for finding solutions that are both effective and efficient,” said study author Femke M. Seesing, MSc, of Radboud University Medical Center in Nijmegen, Netherlands.

Group visits have shown benefits for people with other chronic conditions, but have not been studied for people with neuromuscular disorders.

For the study, 272 people with chronic neuromuscular disorders were randomly assigned to a group medical appointment or an individual appointment for their annual appointment. Spouses or partners were included. For the group visits, five to eight people with the same disorder saw a neurologist for an hour and a half to two hours. Individual appointments lasted 20 to 30 minutes. Participants then were given questionnaires that measured their quality of life one week, three months and six months after the appointment.

The study found that those in the group visits scored an average of three points higher on a quality of life test than those in individual doctor appointments. Seesing noted that the benefit was modest. “While the improvement was similar to that seen in previous studies of group visits, it did not reach the five-point difference necessary to be clinically important,” she said. “This may be due to the progressive nature of neuromuscular disorders.”

Seesing said the group visits combine individualized care with peer support and the chance to learn from other people’s experiences. “Group visits may be especially beneficial for patients with neuromuscular disorders, where it can be difficult to address all of the complex problems of the disorder in a traditional appointment, and where the main treatment goals focus on optimizing quality of life and improving self-management in the absence of a cure.”

The study was supported by ZonMw, the Netherlands Organization for Health Research and Development.

To learn more about neuromuscular disorders, please visit http://www.aan.com/patients.

The American Academy of Neurology, an association of more than 27,000 neurologists and neuroscience professionals, is dedicated to promoting the highest quality patient-centered neurologic care. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as Alzheimer’s disease, stroke, migraine, multiple sclerosis, brain injury, Parkinson’s disease and epilepsy.

For more information about the American Academy of Neurology, visit http://www.aan.com or find us on Facebook, Twitter, Google+ and YouTube.

Contact:

Rachel Seroka
rseroka@aan.com
American Academy of Neurology

or

Michelle Uher
 
muher@aan.com

Source: American Academy of Neurology

A Completely Different Child After Surgery

Kathrine Schulze

To talk with Ella Romig today is like talking with a typical 11-year-old girl. She’ll list all the things she likes to do — volleyball, reading, dancing, singing and more.

It wasn’t more than a year ago, though, that Ella could only imagine doing some of those things. She suffered from epilepsy brought on by tuberous sclerosis, a rare genetic disease that can cause benign tumors in the brain.

But thanks to a surgical procedure she underwent in Cleveland last September, the West Lafayette girl can enjoy a lifestyle free of seizures.

This past weekend, she and her family attended a reunion at Cleveland Clinic for patients who underwent surgical treatment for epilepsy and came out on the other side without seizures. Ella said she was looking forward to meeting more kids like her and playing the games she knew they would have for her.

The difference in her daughter is dramatic, her mother, Stephanie Romig, said.

“She was always, believe it or not, a bit shy, not very outgoing. And always two to three sizes smaller than her class,” Romig said.

Ella had a constant tremor that made physical activity difficult, and she had been medicated since she was 6 months old. She didn’t really dance or sing, and she didn’t throw a softball.

“After her surgery, she sings all the time,” her mother said.

Before the surgery, learning disabilities associated with her epilepsy made reading and math difficult. Back at school after her surgery, Ella read the most books in her fifth-grade class — 50.

“Mrs. Braile was very excited,” Romig said, referring to one of Ella’s teachers, “because where (Ella) was more of a little wallflower, after her surgery she was much more dynamic.”

Months of testing

Ella and her family went to Cleveland Clinic originally just for a consult. When they found out about the tuberous sclerosis and that surgery was an option, the Romig family began to spend a lot more time in Ohio.

There were months of testing before Ella was cleared as a candidate for surgery. On Sept. 5, Ella underwent the first part of her surgery. She stayed in the hospital for two weeks.

A tumor in the right temporal area caused the seizures on the left side of Ella’s body, said Dr. Elia Pestana Knight, who is with Cleveland Clinic’s Epilepsy Center.

The tumor was too far in the brain to be caught by an MRI scan. Extratemporal surgery identified the point of the focal seizures, then corrected it.

The surgeon, Dr. Jorge Alvaro Gonzalez-Martinez, made Romig’s family feel at ease, Romig said. Ella and her mother laughed as they remembered what Gonzalez-Martinez said when Romig worried about her daughter’s operation.

” ‘I treat you like my daughter,’ ” Ella said, imitating her surgeon’s soft, low voice.

“It sounds really silly the way we’re saying it, but he put my husband’s mind at ease too, which isn’t easy,” her mother said.

The Cleveland Clinic staff gave Ella a doll while in the hospital, wrapping its head in the same white gauze that covered Ella’s head.

“We had great support from family and friends as well,” Romig said.

Romig said her mom’s church, Deer Creek Presbyterian, raised a couple thousand dollars for the family at its annual free will offering breakfast.

Before the surgery, Knight said, Ella’s behavior was poorly controlled. Now she’s a mellower, happier child: “When she came for the six-month checkup, she was a completely different child.”

For Ella, the days of testing her health aren’t over. , as she’ll always have to monitor her tuberous sclerosis. But she can enjoy activities that for years were beyond her reach.

“The fun thing was, before my surgery, I couldn’t ice skate,” Ella said. “But when I went to my grandpa’s house in Pennsylvania, I could ice skate with my uncle.”

Source: Lafayette Journal & Courier

Nathan Charles Asks Not to Be Judged by His Cystic Fibrosis but by His Performance

Scott Hazlewood

Wallabies hooker Nathan Charles says he wants to be judged on his performance rather than a genetic disease he has defied to make the national team.

Charles, who is poised to make his Test debut when he starts on the replacements bench against France in Melbourne on Saturday, is a cystic fibrosis sufferer.

He is believed to be the only athlete with the condition in the world who is playing a professional contact sport.

Cystic fibrosis is a life-threatening genetic disease that primarily affects the lungs and digestive system.

Charles, 25, requires up to 28 pills and vitamins daily to manage his condition, but he said he does not want to take that into account on Saturday when he is expected to play some part in the second Test against the French.

“The thing I want to be judged on is my performance … rather than the disease I carry,” he said ahead of the game.

“Mum and dad brought me up to set my goals high and (if) you want it, you have to go out and work hard to get it.

“I don’t see why myself, or anyone else, should have limitations on what they can achieve in life because I reckon the only thing stopping you is yourself.”

Wallabies coach Ewen McKenzie hailed Charles as a medical marvel.

“He (Charles) seems to defy science and logic,” McKenzie told reporters.

“I think if anyone had not said anything to us, we would not have known (about his condition).

“I am glad it is out in the open and I think the best we can do to acknowledge him is to give him an opportunity on the field.”

McKenzie said the Western Force hooker had leapfrogged the more-established James Hanson in the Wallabies’ queue behind first-choice hooker Tatafu Polota-Nau on his own merits.

“He handles the medical side of it himself. There is nothing I notice or see — he just functions like everyone else,” he said.

“I just deal with them as a footballer and he (Charles) has been a really good addition to the squad.”

France lost the first Test in Brisbane 50-23. The final Test takes place in Sydney on June 21.

Source: Fanatix