As a child, running with his friends, playing with his sister and wrestling with his dad were only dreams for Harshit Talwar. A rare genetic disease leaving his skin as fragile as a butterfly wing that would blister with a bump or rip open with a fall stole those little-boy moments from the now 20-year-old.
Today, as Talwar navigates school at CU Colorado Springs, his college days are overshadowed with pain, wound care, hospital visits and the likelihood of a much shorter lifespan than most of his classmates.
Yet Talwar, who has long held out hope in science despite a lack of research funding for rare diseases, has seen movement on that front in recent years.
Until two years ago, doctors could do nothing but address the symptoms of his disease, called epidermolysis bullosa (EB). Treatment largely included daily pain medications, which Talwar – who has no memory of life without pain – said only dulls the constant stinging that feels like “rose thorns being rubbed across your body every moment of every day.”
Since 2023, three drugs have been approved for EB treatment, finally giving providers, patients and parents something beyond the bandages to care for these kids. Other therapies are in development, including groundbreaking work at CU Anschutz to create genetically corrected skin cells that could improve resiliency of EB patients’ skin (see sidebar at bottom).
Key points:
- Epidermolysis bullosa (EB) is a rare genetic disorder that causes extremely fragile skin, leading to severe blistering, chronic pain and life-threatening complications.
- CU Anschutz is home to one of the few EB Centers of Excellence in the country, providing comprehensive and life-altering care for these children and young adults.
- Dedicated scientists at CU Anschutz are focused on correcting the defect in patients’ own cells, regenerating healthy skin cells and transplanting those cells back into the patient for more resilient skin.
Talwar’s body has been wrapped in bandages by his parents since he was a baby. Born in India, his genetic defect left him with little to no type-VII collagen, a protein that anchors the skin’s top layer (epidermis) to its middle layer (dermis). Without it, even his clothes rubbing on his skin can leave open sores.
“Most of my body is scarred,” said Talwar, who has a severe, even rarer, subtype of the disease called recessive dystrophic epidermolysis bullosa (RDEB). “It is bright pink to deep purple. I just always feel pain, because there’s always wounds that are open, so there's raw skin exposed.”
“EB is a heartbreaking disease,” said Jamie Feinstein, MD, pediatric director of the Epidermolysis Bullosa Multidisciplinary Program at Children’s Hospital Colorado, one of few Centers of Excellence in the country for EB. “EB doesn’t just affect the skin; it affects every part of the body and every aspect of daily life.”
ICYMI: Jamie Feinstein, MD, a CU Anschutz epidermolysis bullosa specialist, and one of his patients is featured in Matter of Time, a newly released documentary on Netflix about EB with Pearl Jam frontman Eddie Vedder.
Yet Feinstein knows that whenever he opens the exam room door where Talwar awaits, he can count on a “mile-wide” smile and outstretched arms inviting a hug.
“He is an incredibly resilient young man,” said Feinstein, a rare disease specialist and professor of pediatrics at the CU Anschutz School of Medicine. “Every time I visit with him, he makes me pause and reframe my own outlook – to try to be as hopeful as he is, despite all of the challenges he faces every day.”
The wound care alone creates a heavy burden physically and emotionally on families and patients with EB, Feinstein said. Washing, soaking and debriding old skin often must happen every few days, requiring the help of parents or caregivers.
Although accepted to CU Boulder to study physics, Talwar had to decline to stay at home with his parents, who help manage his care.
Still, Talwar is in his second year at CU Colorado Springs majoring in biology and launching a nonprofit with a friend focused on providing nutritional and educational support to EB families in need.
“Wound care, baths, and dressing changes can last for hours each day,” Feinstein said. “It’s excruciatingly painful and deeply anxiety-provoking. No child or teenager should have to build that into their daily routine. They should be focused on school and friends and having fun,” he said, adding that helping that happen is the EB care team’s goal.
When Talwar moved to Colorado with his family, he was 10 and weighed 45 pounds, far short of the 60- to 80-pound average for a boy his age.
Other EB effects make meeting the heightened nutrition needs from his body’s continual wound healing nearly impossible, such as periodic blistering and scarring of the mouth, throat and esophagus, where painful strictures hinder swallowing.
Once his family found CU Anschutz, Talwar’s care dramatically improved.
His team of specialists immediately performed esophageal dilation, inserting a balloon via an endoscope to break up the strictures and aid swallowing again, a procedure he now undergoes about every year.
Doctors also placed a gastric tube, which Talwar still has, to supplement his nutrition, and prescribed eye drops to ward off blisters and corneal abrasions that can steal patients’ sight until healed.
And in the past two years, Talwar has been trying the new topical medications, settling on one that he said appears to speed wound healing.
“It was like, yes!” he said, recalling the excitement over the drugs’ approval. “There is a treatment for EB! It was a big achievement for our community because it's like, "Okay, we're seeing progress. We can get there."
“As much as you want to feel bad for yourself, you can't. It's like a black hole. It will suck you in. Don’t ignore the sadness but always find the bright side.” – Harshit Talwar, on living with EB
“The skin is your barrier to the outside world,” Feinstein said. “When you have wounds across your body, there’s always a high risk of infection, and sometimes these infections can spread deeper and become invasive – reaching the bloodstream.”
Blood infections and sepsis, an immune response to infection that threatens tissue and organs, are life-threatening complications of EB that Talwar knows well.
“I've had sepsis three times, and I went into septic shock once,” he said of when patients’ blood pressure plummets to dangerously low levels. “It's basically when your body gives up, and it's kind of like the doctors have to bring you back from the brink,” Talwar said, acknowledging his care team for saving his life.
“As if EB didn’t already ask enough of these kids, by early adulthood, many face the possibility of life-threatening squamous cell skin cancers,” Feinstein said. “Constant wound healing puts patients at risk for developing abnormal cells that can turn cancerous.”
Severe EB remains a life-limiting disease, but recent advances in science, including at CU Anschutz, and new emerging therapies offer real hope, Feinstein said.
As Talwar shares his story via Zoom, tucked in a quiet corner somewhere on the Colorado Springs campus between classes, he smiles, apologizes if he’s getting too graphic, injects humor and holds up his bandaged arms and deformed hands to the camera.
“It's just basically the skin trying to heal over itself way too rapidly,” he said of the mitten-like hands that result from repeated injury, with the subsequent blistering and scarring eventually fusing the fingers (and sometimes the toes) together. Both are disabling and can require physical and occupational therapy and wheelchairs or scooters.
The social and physical trials of his disease that made him “mature very quickly” can be overwhelming, he said. But thanks to a good family, true friends and the EB connections he’s made, Talwar finds joy in life and wants simply to be a “good son, brother and human,” he said.
“As much as you want to feel bad for yourself, you can't,” he said. “It's like a black hole. It will suck you in. Don’t ignore the sadness but always find the bright side. And just talk. Sometimes, talking is the best healer.”
Scientists Work to Develop Genetically Corrected Skin Cells for EB Patients
At CU Anschutz, a team of researchers has built a research program focused on developing a breakthrough treatment for recessive dystrophic epidermolysis bullosa (RDEB), a severe and devasting form of the genetic skin-blistering condition.
Created by a team of CU Anschutz School of Medicine dermatologists and led by Ganna Bilousova, PhD, associate professor of dermatology and core research faculty at the Gates Institute, the program focuses on developing a regenerative, gene-corrected cell therapy for RDEB.
The team’s groundbreaking work is on track for clinical trials, according to a recent regulatory review by the Food and Drug Administration.
Patients with RDEB are born with mutations in the COL7A1 gene that prevent the production of collagen VII, a protein that forms anchoring fibrils that attach the outer layer of the skin to the underlying tissue, Bilousova said.
“Without these anchoring structures, the skin becomes extremely fragile and tears or blisters even from minor friction, leading to chronic wounds, scarring, severe pain, and a high risk of aggressive skin cancer,” she said.
“Our approach aims to correct the genetic defect in a patient’s own cells and generate healthy skin cells that can restore collagen VII and rebuild stable anchoring fibrils. The ultimate goal is to transplant genetically corrected skin cells back to the same patient, creating stronger, more resilient skin.”
The recent review was possible because of substantial support from the Gates Institute, Bilousova said. “It strengthens our regulatory strategy and ensures our preclinical studies, safety assessments, and manufacturing plans are designed to support a future first-in-human clinical trial.”
The research team includes Bilousova, Igor Kogut, PhD, Dennis Roop, PhD, Anna Bruckner, MD, and Emily Gorell, DO. The team’s work was supported by the manufacturing and analytical expertise of Benjamin Skinner, Clarissa Estrella and Russell Marians at the Gates Biomanufacturing Facility on campus.