As members of the Old Order Amish community, Susie and Aquilla Blank had heard of the Clinic for Special Children, but never imagined they would one day need the Clinic’s services themselves. When their third child, Seth, was born in September 2021, the attending midwife noticed concerning symptoms and encouraged the family to call the Clinic right away.

When Susie and Aquilla called, they were connected with Dr. Laura Poskitt, Medical Director. After speaking with the family, Dr. Poskitt suspected Seth had a rare genetic disorder called Congenital Adrenal Hyperplasia (CAH) and urged the family to go to their local hospital and send a blood sample to the Clinic for urgent testing.

CAH is a group of rare genetic disorders affecting the adrenal glands, which sit on top of the kidneys. The condition causes a problem in three hormones made by the adrenal gland. Without treatment, CAH can lead to loss of body salt, dehydration, vomiting, low blood sugar, seizures, and life-threatening adrenal crises. Treatment typically includes steroids and a high salt diet.

Within hours of Seth’s birth, the Clinic’s on-site laboratory confirmed the diagnosis of CAH. After spending several days in the hospital, the Blank family came to the Clinic for Seth’s first appointment.

“Dr. Poskitt spent a lot of time with us during that first visit, explaining CAH and how to care for Seth,” shares Susie. “The nurses and staff at the Clinic have been so helpful, as well as Dr. Grace Meier, who now sees both Seth and Mahlon.”

“Since we were surprised to learn CAH was in our family, Aquilla and I decided to do the Plain Insight Panel™ test to learn more about which genetic disorders we were carriers for,” Susie explains. “It was a relief to know we weren’t carriers for any other disorders before Mahlon’s arrival.”

When the Blank family was expecting another baby (Mahlon) in 2023, they chose to have an ultrasound to determine if their baby might also have CAH.

“We preferred knowing ahead of time that Mahlon would have CAH,” Susie shares. “It helped us emotionally prepare for his birth and allowed us to make a plan ahead of time. This time, we were prepared, sent a blood sample to the Clinic soon after his birth to confirm the diagnosis, and gave him a shot at birth so he was able to avoid hospitalization.”

“Giving our babies salt and steroids is certainly not something we ever imagined,” the Blank family shares. “We were not well acquainted with the medical world, and it was very hard to accept at first. But we are grateful beyond words for the doctors, staff, and knowledge at the Clinic. If this medicine helps our children live happy and healthy lives, we praise God for this gift.”

Today, Seth and Mahlon are best buddies. They love playing in their sandbox and enjoy trucks, trailers, and tractors. At the Clinic, they especially love the toy area in the waiting room, and Seth always asks to have his blood draw first so he has more time to play afterward!