Patients’ Stories
Check out some recent stories of patients’ experiences of living with genetic conditions and receiving care at the CHC!
Have a story or testimonial you’d like to share? Contact the CHC.
Kimberly’s Story - ZSD
Over the next week we went back to the clinic several times, where we would learn that our little Kimmy had a genetic disorder called Zellweger Spectrum Disorder, or ZSD.
Waylon’s Story - SMA
Our son Waylon was born on December 31, 2020. Just 24 hours after being home from the hospital we received a phone call from the geneticist at the Community Health Clinic, Dr. Ammous, whose clinic was an hour away. She informed us that our son was tested for over 50 things on his newborn screening and one of them came back positive…
Case Family Story - Hope for Tomorrow
My name is Renee Case and my husband, Josh, and I have two adopted special needs kids. Jacoby is 6 and Ivy is 4. Both of our kids have rare genetic disorders. We adopted Jacoby not knowing any diagnoses…
Esther’s Story - PKU
We are so thankful to be working with the Community Health Clinic (CHC). When we first took Esther to the CHC…
Darin & Sharon’s Story - PKU
In February 2015, my wife gave birth to a beautiful baby girl. She was our fifth child, and like her four older brothers, she appeared normal in every way…
Keveon’s Story - PKU
Our firstborn, Keveon, was born on January 24th, 2020. He was 9lbs 1oz and so perfect. Almost a week later, after his newborn screening test came back, we found out he was diagnosed with PKU.
Isaac’s Story - SCID
On April 14, 2019, we had our son Issac. We received news from the Community Health Clinic that Isaac’s newborn screen indicated he may have SCID.
Jude’s Story - MCAD
Our daughter, Jude, does things her own way. The doctor who delivered her jokingly called her "The Fast and the Furious" due to the wild way she entered the world--breech with no epidural and no c-section…
Hazel’s Story - PKU
Our first baby was born March 2020. As new parents, we didn’t know much about newborn screening other than it was a routine test done after birth…
Penelope’s Story - SMA
Penelope was diagnosed with spinal muscular atrophy (SMA) when she was 3 days old. My husband and I found out through genetic testing during my pregnancy that we were carriers…
Miller Family’s Story - Propionic Acidemia
It might have been cold, wet, and blustery outside that day, but inside it was warm, bright and cozy as we welcomed our perfect little bundle of sweetness into the world…
Helmuth Family’s Story
They were there for us when we had decisions to make…
Ron’s Story - PKU
My name is Ron Carpenter, and this is my story of living with an inborn error of metabolism (IEM) called PAH deficiency (formerly called PKU)…
The Edmons Family’s Story - Galactosemia
We welcomed our first son, Reid, into the world in the spring of 2018. As any new parents would be, we were incredibly thankful for a healthy baby boy and a safe labor & delivery…
The Lehman Family’s Story - Propionic Acidemia
We have 5 children, 3 boys & 2 girls. Our oldest son Joas, now 10 years old, was born a normal, healthy baby, or so we thought. His newborn screening was normal but during his first winter he was often sick…
Shayla’s Story - MSUD
Our daughter, Shayla, was born in 1970 and was admitted to a hospital 24 hours after birth. She was diagnosed with Maple Syrup Urine Disease (MSUD), the same disorder that our son passed away from. Characterized by the sweet smell in urine and ear wax, it is critical for MSUD to be diagnosed directly after birth to prevent brain damage…