Our patients' stories

Thriving With Down Syndrome: Emilio's Story
Born with Down syndrome, Emilio's breakthrough happened when he learned to write his name, count to 10, and draw "some really neat pictures at school.”
Jeune Syndrome and VEPTR Surgery: Isla’s Story
James and Rachel traveled 3,000 miles to seek medical treatment for their daughter's TIS. CHOP is one of only a few hospitals in the nation that offer VEPTR surgery.

Autosomal Recessive Polycystic Kidney Disease: Gideon’s Story
Gideon received a kidney transplant at Children’s Hospital of Philadelphia, with his father as a donor. Today, he is an active 3-year-old.

Cardiac Tumor and Stroke: John's Story
When John, 15, passed out at football practice, CHOP doctors discovered he had a stroke and a rare cardiac tumor. After treatment, John is doing well.

Undiagnosed Reflux and Immune Reactions: Leonardo’s Story
The Integrative Health Program has helped Leonardo manage his mysterious illness with a gluten-free diet and holistic approach.

Josephine’s Chronic Lung Disease Story
A multidisciplinary team at Children’s Hospital of Philadelphia helped Josephine conquer complex medical needs from severe infant chronic lung disease.

Heart Transplant: Kylee's Story
Kylee is a happy and healthy 5-year-old girl thanks in large part to a heart transplant at Children’s Hospital of Philadelphia.
Legg-Calvé-Perthes disease: Daniel’s story
Once in so much pain he couldn’t walk, Daniel is back on the field competing in tournament baseball, sometimes two or three games in a single day.

CD40LG Duplication-associated Autoimmune Disease: Elijah’s story
In unlocking the key to Elijah’s mystery illness, CHOP doctors identified a new autoimmune disease and developed a customized plan to treat his disorder.

Non-operative Treatment of Adolescent Idiopathic Scoliosis: Lindsay’s Story
Six years after being confined to a back brace to treat extreme scoliosis, Lindsay is now a sophomore with a successful clothing line that has generated thousands of dollars in support of scoliosis research.

Charlie's Story: Chronic Lung Disease of Infancy
Charlie’s family traveled to CHOP from their home in Long Island to find a team with expertise treating chronic lung disease in premature babies.

Emma’s Story: Preventing Kidney Stone Recurrence
Emma was diagnosed with kidney stones at age 6. Now, the teen focuses on preventing stone recurrence with support from CHOP’s Pediatric Kidney Stone Center.

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.