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ThoracicThoracic| IBD| Genetics


Thoracic| IBD| Genetics


When the Davis’s found out they were going to have a baby, they were thrilled, just as any couple would be. Megan Davis experienced a normal pregnancy with few issues until she and her husband, Andrew, received devastating news. During a routine ultrasound, they were informed their son, Caleb, was going to be born with multiple birth defects. After Caleb was born, he was rushed to the Neonatal Intensive Care Unit (NICU) to start treating several serious health issues. Caleb was born missing one of his thumbs, and he only had two ribs that were fused together on the right side of his body. Doctors performed a tracheotomy on Caleb, and he was immediately placed on a ventilator. The Davis’s discovered that Caleb was born with a condition known as VACTERL association. VACTERL is an acronym that describes a variety of congenital birth defects:

-Vertebral anomalies

-Anorectal malformation

-Cardiovascular anomalies

-Tracheoesophageal fistula

-Esophageal atresia

-Renal (kidney) and/or Radial anomalies

-Limb defects

Caleb was discharged from the hospital after he turned 5-months-old, and just 6 months later, his family met with Dr. Robert Campbell, the Director of CHOP’s Center for Thoracic Insufficiency Syndrome (TIS), to devise a plan. Dr. Campbell explained that Caleb had TIS, and the best option would be to implant a VEPTR device in his body. In 1988, Dr. Campbell invented the VEPTR device to force rib expansion and increase lung capacity in TIS patients. VEPTR is an acronym that’s short for “Vertical Expandable Prosthetic Titanium Rib.” Dr. Campbell describes the device as being similar to stereo headphones – it can expand and be attached to ribs near the neck or waist or to the spine. After Caleb’s first surgery, the Davis’s slowly weaned him off his ventilator, and eventually, they took his trach out! Every four months, Caleb was being operated on to expand the VEPTR device and open-up the thoracic cavity. Now, at 7-years-old and 24 surgeries later, Caleb is running around and enjoying fun activities with his family. Although Caleb will need a few more years of surgeries, his parents never expected to see their son as happy and healthy as he is today. Dr. Campbell’s innovative VEPTR device and CHOP’s amazing support continues to allow Caleb and many other children with TIS to live exciting, active and hopeful lives. 


5-week-old Olivia DiStefano was suffering from a high fever that was only getting worse. Her parents, Jill and Gus, were forced to face their worst nightmare – that something was seriously wrong with their child. The DiStefano’s took Olivia to CHOP at 7-weeks-old in hopes that they could save their newborn daughter’s life… and they did!

Jill DiStefano says she had a great pregnancy without any complications; they brought Olivia home just two days after being born. 5 weeks later, Olivia was spiking high-grade fevers, and Jill and Gus brought her straight to the emergency room. Doctors thought Olivia had a virus or typical respiratory illness and treated her as such, but when those treatments weren’t helping, the DiStefano’s knew Olivia was seriously ill. Desperate for answers, Jill took Olivia to her pediatrician’s office, where they were told to rush her to the hospital immediately. After arriving at CHOP, the DiStefano’s suspicions were confirmed: Olivia was very ill and was diagnosed with Very Early Onset Inflammatory Bowel Disease, or VEO-IBD, a “new” and rare condition. Dr. Judith Kelsen, the Director of the VEO-IBD Program at CHOP, recommended they have Olivia genetically tested to determine the gene that was causing this disease. The results showed that a mutation in Olivia’s NLRC-4 protein was responsible. NLRC-4 is a protein that senses and reacts to infections in our bodies, and unfortunately, Olivia’s NLRC-4 protein was responding to infection 24/7, even when no infection was present. Dr. Edward Behrens, Chief of the Division of Rheumatology at CHOP, told the DiStefano’s that Olivia was only the 5th person in the world with the genetic mutation. 

The DiStefano’s were relieved to know the cause of Olivia’s illness, but terrified and uncertain for her future. CHOP doctors put Olivia on several steroids and medications, but she still wasn’t fully recovering. In order for Olivia to become healthy, Dr. Behrens knew they needed to block one of the two chemicals that the NLRC-4 protein produces, and a drug company in Switzerland was their only hope. Dr. Behrens reached out to the Swiss company and, with the DiStefano’s permission, appealed to the FDA for compassionate use of the drug. Within Olivia’s first two doses, she was sitting up in her crib with a smile on her face. Dr. Behrens knew the drug was working. Today, Olivia is your typical 3-year-old girl with an active lifestyle and amazing appetite. Jill and Gus are thankful every day and can’t imagine life without her. The drug Olivia is being treated with is currently in clinical trial for VEO-IBD treatment, and CHOP is hopeful that it will be approved to treat children worldwide.


After experiencing countless infertility issues, Cortney and Ryan Reviello were finally expecting their first child, Camryn. Only eight hours after Camryn was born, Cortney and Ryan were devastated to learn that she had several health issues. After taking Camryn to the NICU, she was tested and diagnosed with lissencephaly, polymicrogyria, and microcephaly. These three debilitating conditions affect the shape and size of the head and brain. The conditions also greatly interfere with a person’s ability to make voluntary and involuntary movements and process and retain essential information. In effort to device a plan, The Reviello’s were recommended to the Roberts Individualized Medical Genetics Center for genetic testing.

Individualized genetic testing allows doctors to compose genetic maps of patients through genome and exome sequencing. After genetic testing is initiated, it takes about 2 to 3 months for expert genetic counselors and physicians to interpret genomic information and determine the roots of current health problems and future health risks of patients. In the Reviello’s case, genetic testing determined that both Cortney and Ryan carried the same, extremely rare gene. When those two genes were combined, it created the gene in Camryn that caused lissencephaly, polymicrogyria, and microcephaly. Camryn is the only person in the world known with this gene. 

Although Camryn’s future remains unknown, the Reviello’s have optimized the care and outcome for her life. Cortney and Ryan also had 9 embryos genetically tested for the presence of Camryn’s gene. Out of the 9 embryos, only 4 tested positive for Camryn’s gene. The outcome ensured that Cortney and Ryan would have a child without Camryn’s severe conditions. Today, they have a healthy, newborn daughter, Brinley, in addition to their first “little miracle,” Camryn. Since Camryn is the only person in the world with this rare gene, she is an open book. Cortney and Ryan say that Camryn is crawling and communicating non-verbally -- things doctors never imagined she’d be doing. The Reviello’s are just one amazing example of how CHOP’s genetic testing is changing lives, and without it, they would’ve never had another child.  

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