Elliott Crisamore, 27, is a very special person. He was born with a rare genetic disorder called oral-facial-digital syndrome type 1 (OFD1). OFD1 is a rare, X-linked, congenital disorder that normally causes malformations in the face, mouth, and fingers. The OFD1 gene plays a crucial role in the early development of many parts of your body, including the brain, face, limbs, and kidneys. Elliott wasn’t diagnosed with OFD1 until he was 18 because he did not display those visible characteristics. Genetic testing was performed to confirm his OFD1. Due to this syndrome, his kidneys were not formed normally. Elliott is also non-verbal.
At age 7, Elliott underwent his first kidney transplant at Johns Hopkins Comprehensive Transplant Center in Baltimore, MD. His living donor was his mom, Audrey. She donated one of her kidneys to give her son many years of improved health.
Unfortunately, about 18 years later, Elliott experienced a smoldering rejection of his kidney. This is a type of rejection that can occur without being detected by normal testing. Similar to how a fire can smolder and burn without producing a flame, Elliott’s body was slowly rejecting the kidney, but the signs were not obvious. Most of the time, rejections can be treated by adjusting immunosuppression medications. However, if creatinine levels are up for a few weeks, months, or years, the kidney can become scarred.
Elliott’s glomerular filtration rate (GFR) level was at 18 mL/min, meaning that he was in stage 4 of chronic kidney disease. Elliott needed a new kidney. Audrey, Elliott’s mother, was now searching for a transplant center that would accept Elliott. Because of his underlying health conditions, most surgeons thought he was too fragile to survive the surgery. After being rejected at two other transplant centers, Audrey reached out to UPMC. Because of the five-hour drive from her hometown of York Pa., to Pittsburgh, and Elliott’s previous rejections from other centers, Audrey arranged to have the initial appointment as a video-visit consultation with the UPMC Kidney Transplant Program team in Pittsburgh.
After the video visit, Audrey was told that UPMC would consider Elliott’s case. However, she and Elliott would need to make the drive to Pittsburgh for initial evaluation and testing. Audrey purchased a new car so they would be able to make the long drives during the winter months.
Audrey and Elliott met with the transplant team. His case was accepted.
“I was shocked that they were willing to perform the transplant. After being rejected at other centers, my hopes were pretty low,” said Audrey.
On April 28, 2022, 25-year-old Elliott underwent his second kidney transplant. This time around, Elliott received a deceased-donor kidney.
After surgery, Elliott was monitored very closely. During his early post-transplant care, Audrey mentioned that Elliott was having issues related to his Lennox-Gastaut syndrome, which pre-dated his second transplant. Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures begin in early childhood and continue throughout life.
Elliott’s UPMC clinicians discovered that Elliott was taking his seizure medications too close together with other medications and they were likely interfering with each other. After his UPMC care team adjusted his medications, he’s had no issues with his Lennox-Gastaut syndrome since.
It’s been more than two years since Elliott’s surgery, and he is doing well.
“I’m thankful to the team at UPMC for accepting Elliott’s case and giving him a better, healthier future,” said Audrey.
Elliott’s treatment and results may not be representative of other cases.
