Terri Gibbs couldn't fathom what was happening to her son Hank as she held her hands on either side of his face one night in 2008. One side was full and the other was literally skin and bone.
Hank was asleep, but Terri's eyes had just been opened to the possibility that, what began in 2006 as a rash on the left side of his face, two years later was distorting his eye, cheek and other facial features – something none of their doctors or specialists caught.
“We’d go to church and I'd cry,” said the mother of three from Sacramento, Calif. “I'd look at him sideways and cry."
Terri knew what was different about Hank, but she didn’t know why until the next night when the latest dermatologist they had consulted finally got it right. The Gibbs family had their diagnosis, but it wasn’t any cause for celebration.
Hank, who was 7 at the time, was diagnosed with Parry Romberg’s Syndrome, a rare disease that causes the area from the hair line to the jaw on one side of the face – usually the left - to literally waste away due to severe atrophy. The cause is unknown and there is no cure, but it is believed to be an autoimmune disease.
"Parry Romberg Syndrome classically involves the atrophy, or the wasting away, of the fat of one side of the face… It can have profound effects on the overlying skin and skeletal growth… And all of the associated structures then are distorted," said Dr. John W. Siebert, professor of surgery at the University of Wisconsin and an attending surgeon at Lenox Hill Hospital in Manhattan, N.Y., who has performed three operations on Hank to restore the left side of his face.
Parry Romberg is believed to affect people before the age of 20, but Siebert has had a patient as old as 69 who had no sign of the disease until their 50s. If allowed to progress, it can also affect the bone, which can then distort the features on the affected half of the face. Although it’s progressive, it doesn’t spread beyond the face.
Hank, who is now 9, has some involvement in the bones around his eye and upper jaw. But the effects are painfully visible on the overlying skin. Although it typically affects just one side of the face, “For that individual patient, it's obviously 100 percent involvement,” Siebert said.
Siebert told FoxNews.com that, classically, surgeons wait until the patient’s tissue has completely wasted away and they have been stable for two years before they go to reconstruct. But Siebert favors early intervention because, he said, the earlier the onset of the disease, the greater the negative effects on skeletal growth become. If the disease is allowed to progress, the bone can become corkscrewed and very small compared to the unaffected side of the face, which continues to grow normally.
Although Hank didn’t know much more than what it had done to his face, neither Terri nor their forward thinking surgeon was willing to wait and see how it would progress, considering the disease’s usual destructive pattern.
“Hank wasn't severe. He was probably moderate,” said Siebert, who Terri heard of from a contact she made through the Parry Romberg Connection website, a support network that helps connect individuals and families affected by the highly underreported disease. “We intervened while we had active disease in hopes of arresting the progression.”
The Gibbs family flew out for the first surgery on July 2, 2009, which was done at the NYU Medical Center, where Siebert ran the microsurgery program for many years before resigning. Siebert transferred fat from under Hank's shoulder to replenish his face, which had slowly been deteriorating for about two years.
Hank then had two revision surgeries, which take just one hour and is usually on an out-patient basis, compared to the six to eight hours that the first surgery takes. Siebert moved the fat around to match the other side of the face as best he could – but the result is never perfect. Siebert makes his patients promise they will have at least one revision to make their overall result better. Hank went in for his first revision in December 2009, and the latest on July 20.
"For the kids, I liken the whole thing to Build-A-Bear," Siebert said. “Their skin is deflated and what it needs is to have living stuffing to bring it back out to its normal shape and form.”
Siebert, who says he has seen more than 400 Parry Romberg patients and done hundreds of microsurgical free tissue transfers, takes that “living stuffing” - tissue - from another body part. Using a skin flap, he places it in the affected area and attaches the blood vessels.
“You hook it up to a little artery and vein in the face and then you sculpt what they're missing underneath the skin… And it's just like building a teddy bear.”
The use of living tissue dramatically improves the blood supply in that region and, after surgery, that side of the face is not only plumper than the unaffected side, it is firmer and ages better, Siebert said.
“So far, it's been one year and there has been no further atrophy,” said Terri, who was grateful to have found someone with the answers she had searched so long and hard for.
Although the first surgery was a success, Hank was still just 8 and didn’t really know why he needed to “change his face.”
“When Hank first had that first surgery, he looked at me and said, 'did you just not like my face before?' That crushed me,” she said. “Because I thought he got it. I thought he had realized what was going to happen. He didn't understand why we would change his face. And so that was a really hard thing for him; and it was hard for me.”
Once they left the hospital and went home, Terri showed Hank pictures of people with Parry Romberg who didn’t have surgery, and she said he never questioned it again.
One year, three surgeries and 18,000 miles later, Hank is out of the hospital and feeling good. Yet, he still doesn’t really understand why he needed a second revision surgery.
“The problem is I’m pickier than any patient. If it's not dead on, than I’ll usually subtly, not twist their arm, but tell them they could be improved,” said Siebert, adding that most patients have one revision.
Otherwise, Hank is happy to be with his mother Terri, his father Jeff and his two younger siblings, Charlie and Lucy as they make their way back to Sacramento. On their way, they have visited the Bronx Zoo, the Empire State Building and the family of another Parry Romber Patient who helped them make the decision to go with the tissue transfer surgery.
“If you ask Hank, he'll tell you, ‘I used to have Parry Romberg Syndrome.’ So he considers himself cured,” Terri said.
Before his last revision surgery, Hank gave a presentation to his classmates about what Parry Romberg Syndrome is.
To prepare him for that, Terri interviewed him and asked, “Are you mad at God?”
Hank said, “No. Sometimes I wonder 'Why me? Why not some other kid?' But I wouldn’t want another kid to have this. I know God has a plan for all of us, and this is just his plan for me,'” Terri said.
Visit Helping Hands for Hank to learn more about Hank's story and how you can help.