Our patients' stories

Coffin-Siris Syndrome: Julia’s Story
After four years of uncertainty, the Roberts Individualized Medical Genetics Center helped the Steigerwalt family find a diagnosis behind their daughter’s complex medical condition.

Ventricular Septal Heart Defect (VSD): Roman’s Story
Roman was a month old when doctors discovered he had an opening in his heart. Doctors repaired the damage, and today Roman is an energetic 9-month-old.

Sofia-Rose’s Spina Bifida Fetal Surgery Story
When Alicia and Matthew learned their unborn baby had spina bifida, the prognosis was grim. But the team at CHOP offered them hope through fetal surgery. See how she's doing 3 years later.

Mitochondrial Depletion: Louie’s Story
Louie began suffering from a form of mitochondrial disease when he was 11. Now 18, symptoms of his disease have been reduced through exercise.

Brain Injury and Recovery: Sam's Story
A terrible car accident left Sam with a serious brain injury. Therapy and surgery helped him rebound; he’s now able to recite a poem and play his favorite sport.

Methylmalonic Acidemia (MMA), Liver Transplant and Kidney Transplant: Yusuf and Khadija's Story
Siblings Yusuf and Khadija were both diagnosed with MMA, a life-threatening genetic disease. Successful transplants have improved their quality of life.

Glucose Transporter Type 1 Deficiency: Dominic’s Story
Dominic’s life can be broken into two parts: before and after he started the ketogenic diet. Today, he’s a happy and healthy first grader.

Janessa and Matt’s Story: A Path of Healing
The CHOP care team helped Janessa and Matt prepare for the loss of one daughter, while finding joy in welcoming another.
Mitochondrial Disease: the D'Aria Family
The D’Aria family lost their daughter, Giuliana, to a serious form of mitochondrial disease. Their story highlights the importance of funding research.
Crohn's Disease: Morgan's Story
When Morgan was 11, her weight dropped to just 50 pounds due to complications from Crohn’s disease. Now 14, she’s excelling in high school.

Atrioventricular Canal Defect: Henry’s Story
After cardiac surgery at Children’s Hospital of Philadelphia to repair a defect in his heart, Henry has more energy than ever.

Biliary Atresia and Liver Transplant: Haley's Story
Haley had a life-saving liver transplant when she was 4. Now 15, she’s an active teenager who players lacrosse and enjoys cheerleading.

Hemophagocytic Lymphohistiocytosis: Luca’s Story
After receiving treatment for hemophagocytic lymphohistiocytosis (HLH) at Children’s Hospital of Philadelphia, Luca is on the road to recovery.

Tetralogy of Fallot (TOF): Alissa’s Story
When Alissa was a baby, she underwent heart surgery at Children’s Hospital of Philadelphia to treat tetralogy of Fallot (TOF), a congenital heart defect.

Using Meditation and Diet to Treat ADHD Symptoms: Anna’s Story
Anna, 6, has been able to control her ADHD by changing her diet and embracing meditation instead of using medication to treat her symptoms.

Fetal Surgery for Spina Bifida: Mason’s Story
A spina bifida diagnosis led Baylee and Louis to make the trip from their home in Florida to Children’s Hospital of Philadelphia for fetal surgery.

Sickle Cell Disease: Caylin’s Story
Now 12, Caylin’s regular visits to CHOP for sickle cell disease treatment have inspired her love for comparing numbers, gathering data and experimenting.

Coarctation of the Aorta with Aortic Arch Hypoplasia: Jude’s Story
Jude, 2, was born with coarctation of the aorta with aortic arch hypoplasia. Procedures at Children’s Hospital of Philadelphia helped save his life.

Yoga for Cancer Coping: Lucas’ Story
As Lucas undergoes chemotherapy, he uses yoga to stay calm, offered as part of the Integrative Health Program at Children’s Hospital of Philadelphia.

Spinal Muscular Atrophy Treatment: Claire’s Story
With a breakthrough drug for spinal muscular atrophy treatment and ongoing therapy at Children’s Hospital of Philadelphia, Claire is reaching new milestones.