Seventeen-year-old Kathryn has done more than survived – she’s thrived. Born with Down syndrome, Kathryn has fought every health crisis that has come her way – from cancer at age 4, to sepsis at age 13, as well as several chronic conditions that will remain with her for life. Through it all, Children’s Hospital of Philadelphia (CHOP) has been by her side.
“Kathryn has a fighting spirit, there’s no doubt about that,” says her mom, Lynne. “But CHOP has always been there for us – including saving her life twice. We’ll forever be grateful to Kathryn’s amazing care team at CHOP.”
Now that Kathryn’s a high school sophomore, she and her mom wanted to share their diagnostic journey with others. It’s their way of thanking the many doctors and nurses who have made a lasting impact upon Kathryn’s life, raising awareness about immunodeficiencies, and providing hope to other youth still struggling with undiagnosed multi-organ conditions.
Q: When did Kathryn first come to CHOP?
Lynne: We initially came to CHOP when Kathryn was a baby for an assessment from the Trisomy 21 Program, then returned periodically until she was 4 years old when doctors in CHOP’s Cancer Center confirmed she had acute lymphoblastic leukemia (ALL). Thankfully, it was treatable with chemotherapy, and after 2½ years she was declared cancer-free.
Q: What are your earliest memories of CHOP?
Kathryn: I came to CHOP because I got cancer. They gave me medicine to help me feel better and cured me.
Kathryn’s Fast Facts
Favorite thing to do: Talk to my friends
Favorite subject: I like math because of my dad; he’s an engineer
Future job: Dance teacher for little kids
Best day: 8th grade field trip to Hershey Park, complete with rides and crab fries
Favorite things to do at the shore: Boogie board and shop.
Q: What specialties has Kathryn seen at CHOP and why?
Lynne: Kathryn has seen a number of specialists at CHOP over the years, in addition to the Cancer Center and Trisomy 21 Program. She’s also seen:
- Audiology and Otolaryngology (ear, nose and throat) – She was diagnosed with hearing loss as a baby, but when we had her retested at CHOP, it miraculously went away so we suspect her development was just delayed when she had the initial testing done.
- Dermatology – Kathryn had a precancerous nevus (like a mole) surgically removed.
- Endocrinology – Diagnosed with hypothyroidism as a teen, Kathryn will need lifelong medication to treat her “slow” thyroid.
- Rheumatology – After chemotherapy for ALL, Kathryn developed Raynaud’s, a rheumatologic condition that causes some parts of her body – especially her hands and feet – to temporarily lose blood flow in cold temperatures. It’s a life-long condition that will need to be monitored into adulthood.
- Immunology - After a strep throat infection turned to dangerous form of sepsis when Kathryn was in 6th grade, CHOP doctors discovered she had an immunodeficiency that causes her body not to fight infections as well as other kids. She takes an antibiotic twice a day to boost her immune system and will likely need that the rest of her life.
Q: How has CHOP’s care coordination with multiple specialties supported Kathryn’s continued growth and development?
Lynne: We’ve been lucky to have so many wonderful doctors, nurses and therapists be part of Kathryn’s care at CHOP. Our oncology team of Julie W. Stern, MD, and Tracey F. Jubelirer, MD, and all of the oncology nurses got us through the long days in the hospital while Kathryn was receiving chemotherapy for ALL. They were just so empathetic. They understood we were overwhelmed, but they were always honest and upfront with us about her condition and treatment. Chemo was really hard on Kathryn and our entire family. Their support made a huge difference in our healing.
Later, Jill P. Ginsberg, MD, of the Childhood Cancer Survivorship Program helped us navigate the after-effects of cancer and cancer treatment. She also helped connect us with additional specialists as new symptoms appeared. We later met with specialists from endocrinology, rheumatology and immunology.
Q: How has COVID-19 impacted Kathryn’s day-to-day life?
Kathryn: We don’t go out much and we can’t go shopping right now.
Lynne: Dr. Ginsberg and Dr. (Melanie A.) Ruffner (MD, PhD), from Immunology, cautioned us to stay close to home during the pandemic. Kathryn does go to school now, but she’s in a smaller setting where she and the other students can spread out from each other.
Kathryn: And I wear a mask all day, except when I’m eating lunch.
Lynne: Because of Kathryn’s conditions, she’s more likely to have complications if she does get COVID-19. We’re really looking forward to getting our COVID-19 vaccines – Kathryn because she’s immunocompromised, us because we’re her caregivers. We’re hoping to get the vaccine at CHOP because we trust them.
Q: What would you tell a family considering seeking care at CHOP?
Lynne: I recommend CHOP all the time. They have saved Kathryn’s life twice. I’d happily recommend CHOP for any of the specialties we’ve seen. We just feel incredibly lucky to live so close to such a great hospital for kids. CHOP will always have our hearts.