PUEBLO, Colo. — Children’s Hospital Colorado in Aurora opened a new genetic clinic in February. It is the first of its kind in the mountain west region.
It also has ties to Southern Colorado because of six-year-old Cash Blanchfield from Pueblo. Children’s said this Pueblo family helped inspire the creation of the clinic.
The Noonan Syndrome and RASopathy Clinic will help families navigate genetic conditions. It’s like a one-stop shop for patients to see multiple specialists in one visit.
“There are huge amounts of variability. There are some children that have a pretty normal life, and oftentimes their parents have the same condition and they never knew it until we diagnosed it in their children,” Dr. Kathryn Chatfield, said Director of Cardiac Genetics Clinic at Children’s Hospital Colorado. “Noonan Syndrome affects about one in 2,500 individuals so it’s not as rare as some things that we see in pediatrics.”
Amanda and Ryan Blanchfield were elated to have their first baby. The pregnancy progressed seamlessly, but soon after Cash’s birth, he was diagnosed with two extremely serious heart conditions – Obstructive Hypertrophic Cardiomyopathy and Progressive Ventricular Arrhythmias.
“It was all just so surreal because he, like, seemed normal,” Amanda added. “And, you know, it was just so scary.”
Cash was in heart failure and his parents had to make the difficult decision to either have surgery on his heart or have a heart transplant. Cash had a heart transplant at 3.5 months old.
“My special scar that I got from my heart,” Cash explained as he pointed at his scar on his chest.
Children’s Hospital Colorado performed more tests on Cash and eventually learned Cash had Noonan Syndrome, a genetic disorder that affects many organs in the body and commonly the heart.
“I think the fact that there’s so much about it (Noonan Sydrome) so the clinic will be so informative to families that are getting the new diagnosis, and it might just help them learn as much as I’ve learned about it in a shorter amount of time without having to do their own research,” Amanda said.
The Blanchfields want to be supportive to other families who are looking for guidance after diagnosis because of all the help they received from Children’s.
“Thank God they did what they did for him, and he’s doing wonderful now and hopefully will live a long, happy life,” Amanda added.
The clinic is open the third Tuesday of each month and gives patients and their families the ability to see multiple providers at one visit, including specialists in:
- Genetics (MD providers as well as a Genetic Counselor)
The clinic can also provide as needed:
“Children’s Hospital Colorado is our safe place, and every time we go, it’s like a weight lifts off my shoulders,” Amanda said. “The entire staff, from the nurses to the doctors, have been amazing; they are passionate about their jobs. They care for the entire family, not just the child.”
Cash will have his first visit to the new clinic in a few weeks. May 1st marked his six-year heart transplant anniversary. Cash’s father Rayn works for South Metro Fire Department and when he was busy taking care of Cash, his fire crew picked up his shifts for nine months.