RAPADILINO Syndrome: Rita and Maria's Story

Shortly after Maria was born, she was diagnosed with RAPADILINO syndrome, an extremely rare condition that involves many parts of the body. Doctors told her mother that Maria's best hope was care at The Children's Hospital of Philadelphia. Here, Rita Francis shares their story.

What was supposed to be a short post-grad school, pre-baby trip to the United States has become a two-year-and-counting odyssey into the world of pediatric healthcare at its very best.

In February 2012, I traveled from my native Egypt to Central New Jersey. My second child was due in late April, and my obstetrician had cleared me for the trip. He just encouraged me to eat more since the baby was small, but said everything would be fine.

Born with severe complications

On March 18, 2012, my water broke and my daughter, Maria, was born by C-section at Saint Peter's University Hospital in New Brunswick, NJ.

Right away, I was told something was wrong with my baby. By coincidence, an Egyptian nurse was in the OR that day, and she told me my tiny baby — only 4 pounds —  was born with a lot of severe complications. I got to see Maria briefly in the NICU before I was transferred to my room.

I was in shock. My son had been healthy when he was born 12 years before. We didn’t have a family history of birth defects. All I knew is that I loved my daughter, no matter the difficulties she might face, and I wanted the best for her.

Doctor's recommendation: Go to CHOP

When Maria was 6 days old, the neonatologists at St. Peters told me the best place for Maria would be The Children’s Hospital of Philadelphia (CHOP). I didn’t even know where Philadelphia was or how long it would take to get there.

An ambulance took Maria and me to CHOP, and what I remember most about the trip was the transport nurse. He was such a big guy, and he gently held a pacifier to her little mouth for the whole two-hour ride.

At CHOP, I learned Maria’s diagnosis: RAPADILINO syndrome, an extremely rare genetic condition that involves many parts of the body, especially the bones.

RAPADILINO is an acronym for the typical features of the syndrome:

  • RA for radial (forearm bone) malformations
  • PA for patella (kneecap) and palate abnormalities
  • DI for diarrhea and dislocated joints
  • LI for limb abnormalities and little size
  • NO for slender nose and normal intelligence

Comprehensive care

Since we arrived at CHOP more than two years ago, Maria has stayed in the Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit, Children’s Seashore House, the Pediatric Intensive Care Unit and the Pediatric Care Unit.

She had surgeries to support her spine due to scoliosis, lengthen her jaw bone, repair her anal fistula, and place a gastrostomy tube, plus a tracheotomy and a colostomy. It’s a lot for her — and me — to go through.

Support and family-centered care

My husband, Paul, comes from Egypt for month-long visits when he can. My parents have both come to see their granddaughter. And last summer my son, Marc, who is now 14, moved to the United States to be with me. But I’ve taken this incredible journey mostly without family close by.

Instead, so many people at CHOP have given me support. Social worker Abby Simmons and case manager Sarah Wolf have helped me so much with all the insurance paperwork and even with non-medical issues. Nurses and child life specialists are always ready to lend a hand. I can see they love Maria so much, and she knows and loves each of them.

CHOP is a place where you feel safe. People here have not only taken care of my daughter, but also have taken care of me. Even the security officers are part of my positive experience as they would drive me back to the Ronald McDonald House when I missed the last shuttle.

Expert care give us hope for Maria's future

If Maria had been born anywhere else in the world, she wouldn’t have made it.

CHOP has specialists in the many areas she needs. They have been so patient, with both Maria and myself, trying one thing, and if it doesn’t work, coming up with another solution. They never stop trying to help her.

Now she is doing much better, and when she smiles, she lights up the room. Her smile gives me strength.

CHOP is a blessing, and whenever I look at the slogan, Hope Lives Here, I smile because I strongly believe it. Whoever came up with that is a genius because it is so true.

Maria will have a rough road and will always need special care. But I’m hopeful because hope lives at CHOP.

By Rita Francis, June 2014