Patients & Families

Becoming an accomplished Impressionist-style painter is not the most obvious choice for someone who is facing a deteriorating eye condition, but that has been Eric Hartman’s calling for the past 15 years.

A business executive turned artist, Eric was living on Cape Cod in the early 2000s when he began to train in the style of Monet and Degas in 19th-century France. He has been at it ever since. Eric’s art has taken him places near and far – from months-long plein-air immersions in the French countryside, to afternoons with his easel in City Park, in his native New Orleans. Even though his sight has continued to diminish, his zeal to experience and capture the landscapes around him has only grown.

“People with conditions like ours talk of trying to build a visual scrapbook, placing our visual memories in our brain,” Eric said. “The more I have done my art, the more visual I have become. My sense of color, of composition, of shadows have fine-tuned my eye.”

While art has given Eric a deeper connection to the world around him, the work that Eric has done through the Choroideremia Research Foundation (CRF) has done the same for thousands of people throughout the world with choroideremia.

CRF emerged in the late 1990s to become a leading provider of patient support services for its almost 600 members in 12 countries. CRF has also become a catalyst for scientific research, investing millions of dollars to support academic researchers focused on the condition.

While the organization’s research agenda is aimed at accelerating potential breakthroughs to preserve or restore sight, it is equally focused on meeting the needs of people living with a condition that can be deeply isolating. Growing up in New Orleans in the 1960s and 70s, Eric, himself, did not meet another person with choroideremia until he was 40 years old, in 1998. When he did, it was an overwhelming experience.

“Suddenly, the struggles I faced on a daily basis were relatable – walking into half-opened doors, losing my place in darkened rooms. I met others who were comrades in arms, and we began learning from each other. It was such a relief that there are people for me to talk with.”

For Phillip Smith, it was just another day in fifth grade outside with his friends, playing one of the many sports he’d grown to love during his childhood: slow-pitch softball. He held up his glove to catch the ball, like he’d done dozens of times before.

But this time, the ball didn’t make its way into Phillip’s gloved hand. Instead, it collided – hard – with his elbow. For most kids his age, this type of playground mishap might have resulted in a trip to the nurse’s office and an ice pack. For Phillip, however, the decision he made that day would have life-long consequences.

Phillip was born in 1960 with severe hemophilia A, a rare bleeding disorder. Growing up in Illinois, his older foster brother, who also had hemophilia, encouraged Phillip to be cautious when playing with his friends. He recalled that “there were a lot of ‘don’ts,’” due to fear of inadvertently causing a bleed that would send him to the emergency room for a blood transfusion, the standard hemophilia treatment at the time for a serious bleed.

He was an adventurous child, however, who enjoyed sports, ranging from basketball, to dodgeball, to baseball. That day when Phillip got hit in the elbow with the softball, he decided not to confide in his foster parents because he was afraid that he would get in trouble. “So, I kept it secret,” said Phillip. “That elbow ended up being a target joint for a couple of decades,” meaning that his elbow became a joint that bled frequently for many years after that incident.

“If I had told my parents, I wouldn’t have had to endure such frequent trips to the emergency room and to physical therapy in the years since then,” Phillip said. In retrospect, he knows now that one should “treat as soon as possible” because “the longer you wait, the more damage you’re doing to your joints.”

Phillip suffered additional challenges throughout his youth and young adulthood due to lack of safe treatments for his hemophilia. When he was a teenager, he acquired hepatitis C from a blood transfusion and later, the HIV virus from the plasma products used for hemophilia treatments.

Yet, despite these tribulations, Phillip has retained his uniquely sunny disposition. Hemophilia, and all that’s come with it, has taught him compassion and also to “be more patient and empathetic than I might have normally been.”

He since went on to pursue a career in specialty pharmaceuticals and has maintained his active lifestyle. Phillip is optimistic for what the future holds for people like him with hemophilia. He encourages others who he meets in the hemophilia community to seek out answers to their questions about the disorder, and to stay informed about research and the development of potential new treatments. “Make sure you understand what it is, how it works,” he said. “Make sure you educate yourself. If you don’t have a science background like I do, talk to your physician.”

Seth, Jacob and Ben, living with hemophilia A, with their mom, Jolene

Jolene Scicchitano, a sixth-grade math teacher living in rural Pennsylvania, didn’t know she was a carrier for hemophilia A until her first son, Jacob, was born nearly 30 years ago. Her younger sons, Seth and Ben, were later born with hemophilia A as well.

“I had so many questions and so much fear,” Jolene recalled. “My vision was that they’re going to have a very difficult life with a lot of pain.” To compound her fears, Jacob was born at the height of the blood contamination epidemic in the 1980s, and Jolene worried about the safety and purity of the plasma products that were standard-of-care to treat hemophilia at the time.

As a mother of three young sons living with hemophilia, Jolene also became their caregiver. She spent numerous hours over the years administering and tracking their time-consuming and costly treatments. “The most difficult thing was taking care of their bleeding and the damage to their joints. But in addition to all of that, it was the amount of time – filing insurance paperwork, keeping treatment logs and taking care of bills. It was another part-time job,” she said.

Despite the hurdles of ensuring her sons received consistent and adequate treatment over the years, Jolene persevered and insisted that hemophilia would not define her boys’ childhood. Her family’s mantra became: hemophilia is a part of me, but it’s not all of me.

She continued to seek out as much information as she could. She educated herself and read whatever she could find, hoping for better treatments for her boys. Her family also turned to the local hemophilia community to meet others with this inherited disease and gain access to new information and resources. “Living in a rural area, getting to those conferences, we were able to meet other people [living with hemophilia]. The best way to learn about anything is by living through it. I think we have one of the best communities.”

And as Jacob, Seth and Ben grew up, they found daily inspiration from each other. “They’re resilient and perseverant,” Jolene said of her sons. While she worried about the kind of life her boys would lead with a diagnosis of hemophilia A, Jolene now looks to the future with great hope. With her oldest son married, her middle son graduated from college and in the workforce, and her youngest son finishing his last year of college, she is confident they will continue to give 100 percent to everything they do. “My sons are my heroes.”

Curt, living with hemophilia B

Curt Krouse has come full circle.

Growing up in Eastern Pennsylvania as a child with severe hemophilia B, Curt was always aware of the support services provided by his local chapter of the National Hemophilia Foundation (NHF). Back then, however, Curt’s primary interaction with the group was helping his mother set up the annual fashion show fundraiser she volunteered to organize.

Curt’s personal routine requires him to infuse once or twice per week, depending on his activity level, wear ankle braces and take other measures to help manage the pain of arthritis. All people with bleeding disorders must be vigilant about their activities, and reconsider those that may put them at risk.

He now knows arguably more about the Eastern Pennsylvania Chapter of the NHF than anyone, having served as executive director since early 2014. The role combines his two decades of experience in sports and events marketing with a personal desire to give back to the hemophilia community.

“I’ve come to embrace that I can help families and children growing up today have a good and successful life, by sharing my own perspective growing up with hemophilia. This position has taught me a lot about the community, and a lot about myself. I feel strongly that this is where I am supposed to be.”

A key priority for Curt since taking on the role is extending that sense of belonging to all people with hemophilia and a related bleeding disorder, von Willebrand disease. The Eastern Pennsylvania chapter supports medical research and provides financial assistance, education, family programming and advocacy at the state and federal level to benefit local patients with hemophilia and von Willebrand disease. Their motto speaks of a community united: 41 counties, one chapter.

As Curt considers the medical setbacks and advances that have shaped the hemophilia community throughout his 49 years, he recognizes that the current moment could be a transformational one. He said that recent developments in gene therapy research have given the community a sense of “guarded excitement” about the potential to reshape the care of people whose lives are now ordered around a pattern of receiving infusions of clotting factor to prevent uncontrollable bleeds.