There are more than 7,000 rare diseases affecting patients in the United States. From arthrogryposis to Zellweger syndrome, they are each so uncommon, most of us will never encounter any of them. The same is true for most pediatricians and adult physicians. But there’s a place where rare diseases aren’t so extraordinary: Shriners Children’s.
In the last 10 years, Shriners Children’s has treated more than 27,000 patients with rare diseases. In addition, clinicians and researchers associated with Shriners Children’s have published more than 250 studies examining several dozen rare diseases.
Rare Conditions Treated at Shriners Children’s
| Rare Condition | Number of patients (since 2012) |
|---|---|
| Achondroplasia | 758 |
| Acute Respiratory Distress Syndrome | 136 |
| Adams-Oliver Syndrome | 6 |
| Amniotic Band Syndrome | 1646 |
| Arthrogryposis Multiplex Congenita | 3340 |
| Bruck Camurati-Engelmann Syndrome | 13 |
| Cauda Equina Syndrome | 173 |
| Charcot-Marie-Tooth Disease | 383 |
| Coffin-Lowry Syndrome | 4 |
| Cole-Carpenter Syndrome | 1 |
| Compartment Syndrome | 547 |
| Congenital Insensitivity to Pain | 6 |
| Cubital Tunnel Syndrome | 573 |
| Duchenne Muscular Dystrophy | 899 |
| Dysautonomia | 140 |
| Ehlers-Danlos Syndrome | 1444 |
| Epidermolysis Bullosa | 40 |
| Escobar Syndrome | 25 |
| Fragile X Syndrome | 126 |
| Freeman-Sheldon Syndrome | 25 |
| Goldenhar Disease | 79 |
| Hadju-Cheney Syndrome | 6 |
| Hereditary Multiple Osteochondroma | 1360 |
| Holt-Oram Syndrome | 22 |
| Hypophosphatasia/X-linked Hypophosphatemia | 1540 |
| Juvenile Dermatomyositis | 79 |
| Juvenile Paget/Paget Disease | 3 |
| Klinefelter Syndrome | 164 |
| Klippel-Trenaunay Syndrome | 58 |
| Larsen Syndrome | 32 |
| Loeys-Dietz Syndrome | 10 |
| Marfan Syndrome | 846 |
| Marinesco-Sjögren Syndrome | 10 |
| Melorheostosis | 7 |
| Moebius Syndrome | 38 |
| Morquio Syndrome | 88 |
| Multicentric Carpotarsal Multiple Pterygium Syndrome | 4 |
| Osteolytis Syndrome | 8 |
| Nail Patella Syndrome | 6 |
| Osteogenesis Imperfecta | 3004 |
| Pfeiffer Syndrome | 9 |
| Pierre-Robin Syndrome | 61 |
| Poland Syndrome | 115 |
| Postural Orthostatic Tachycardia Syndrome | 11 |
| Prader-Willi Syndrome | 444 |
| Rett Syndrome | 400 |
| Spina Bifida | 7066 |
| Spinal Muscular Atrophy | 730 |
| Spondyloepimetaphyseal Dysplasia | 8 |
| Staphylococcal Scalded Skin Syndrome | 84 |
| Stevens-Johnson Syndrome | 140 |
| Superior Mesenteric Artery Syndrome | 3 |
| Tethered Cord Syndrome | 168 |
| Thrombocytopenia Absent Radius Syndrome | 141 |
| Williams Syndrome | 89 |
| Zellweger Syndrome | 13 |
While Rare Disease Day is marked February 28 on the calendar, Shriners Children’s provides care to children with rare medical conditions every day of the year. We’re often told that patients don’t feel different at Shriners Children’s because they see so many others like themselves when they are here.
Special kids finding their way to Shriners Children’s
Children with rare diseases find their way to Shriners Children’s in many ways. Some already know their diagnosis and seek out our well-known care providers to treat their uncommon conditions. Others come because their condition has specific symptoms that our providers can help with.
“We see a good number of children who don’t come to Shriners Children’s for their primary diagnosis,” said Marc Lalande, Ph.D., Shriners Children’s Vice President of Research Programs. “They might have a syndrome that isn’t considered an orthopedic disorder, but rather is neurodevelopmental, such as Rett syndrome or Prader-Willi syndrome. They come to us at Shriners Children’s because there are secondary skeletal issues, often involving the spine, that we can treat.”
Others, like Nathan, come to us seeking answers they can’t find elsewhere. When Nathan was 9, he started having pain in his knee. In addition, because one of his legs was shorter than the other, he had problems walking. That sparked Nathan’s mother, Blanca, to go on a year-long journey to figure out the cause of Nathan’s trouble.
Nathan was first seen at a Chicago hospital, where doctors could not diagnose or treat his condition. As his pain and walking difficulties worsened, Blanca wasn’t sure where to go. Eventually, the family landed at Shriners Children’s Chicago.
Nathan has Morquio syndrome, one of the rare diseases treated at Shriners Children’s.
After four months of testing, the medical team there was able to pinpoint the root of Nathan’s problems: He was diagnosed with Morquio syndrome.
Morquio syndrome is a rare, genetic metabolic disorder that affects about 5,000 children nationwide. People who have this condition are unable to process certain types of sugar molecules, which affects the growth and development of the spine, bones and organs.
Now 14, Nathan is doing well. To treat his condition and prevent the disorder from progressing, he receives an IV infusion weekly. The care and answers they found at Shriners Children’s convince Blanca and Nathan that he has a bright future ahead.
Specialists providing world-class care
Spina bifida is a birth defect in which an area of the spinal column doesn’t form properly, leaving a section of the spinal cord and spinal nerves exposed, which often results in damage to the spinal cord and nerves. Only 1,400 babies are born in the U.S. each year with spina bifida, and there are fewer than 125,000 spina bifida patients in the country.
More than 7,000 of those patients have been seen at Shriners Children’s in the last 10 years. Mohammed is one of them.
Fleeing war and family tragedy in their native Iraq and then Syria, Mohammed and his family arrived in the U.S. when he was 4. Habitat for Humanity helped the family settle in Sacramento, California. They didn’t know Shriners Children’s Northern California was there, or that it has one of the top spina bifida programs in the country, led by Maya Evans, M.D.
“It was meant to be that we came to Sacramento,” said his father, Bassam. “It was fate.”
Mohammed doesn’t let his diagnosis stop him from playing the sports he loves.
Now 12, Mohammed loves basketball, the Sacramento Kings and hanging out with his friends. He attends middle school and uses a wheelchair to navigate his everyday life. Bassam credits Dr. Evans and the Shriners Children’s team for connecting the family with every resource possible that’s given him the ability to live a more independent life.
Over the years, Mohammed has undergone multiple surgeries to correct deformities in his lower leg, foot and spine. When he was 11, he underwent a spinal procedure and received a halo traction device that uses gravity and a patient’s own body weight to straighten the spine.
Although Mohammed spent many long and difficult days in the hospital for his surgeries, he is someone who sees the bright side of every situation. “I always looked forward to seeing the child life specialists on the second floor and seeing other kids,” said Mohammed. “We played lots of video games like NBA2K and air hockey. Not to brag, but I’m pretty good at air hockey.”
That’s not the only sport he excels in, though. He is the only student in his school district who plays basketball from a wheelchair. His team created a special play for him called the Mohammed Shield. The play calls for his four teammates to form a square around him, while he drives to the basket, shoots and scores.
“It’s the best,” said Mohammed. “I love basketball, that’s all I want to do. I want to go pro one day.”
Researchers forging the path for future patients
Shriners Children’s clinicians and researchers are dedicated to not just treating children who have rare diseases, but to conducting research to learn new knowledge about these conditions that will lead to more effective treatments and better outcomes for these patients. Because Shriners Children’s sees so many patients with rare diseases, our teams are in a unique position to collaborate in research across the healthcare system.
What began as a small research effort with a budget of $12,000 is now a sophisticated, multimillion-dollar program with international recognition. Over the years, Shriners Children’s researchers have made significant breakthroughs in many of our areas of specialty care. At the Shriners Children’s Genomics Institute, researchers are working to discover genetic causes for diseases and conditions and use the knowledge to create personalized therapies.
At Shriners Children’s, “rare” means extraordinary. And that’s how we make our patients and their families feel. Providing the most amazing care anywhere and committing to the endless search for better treatments and outcomes, we treat each patient for being as exceptional as their diagnosis.
