Little Avery’s family has had to make some major changes ever since Avery was diagnosed with Familial Hypercholesterolemia (HoFH) in December 2014.
As discussed in the blog, Avery’s Fight, doctors at Johns Hopkins had confirmed the diagnosis, Avery’s family sought a second opinion… just to make sure.
“We were beginning to realize the severity of Avery’s illness and were desperate to locate a doctor” Avery’s mother blogged in one of her early posts. “We were lucky enough to receive the recommendations of several doctors in states within a few hours’ drive or flight.”
Avery’s family decided to contact Dr. Samuel Gidding at Alfred I. duPont Hospital for Children in Wilmington, Delaware. Once Dr. Gidding heard about Avery’s case, he agreed to see her and gave them his PERSONAL phone to contact. Who does that!? Avery’s family was stunned by his kindness.
Even though her family wasn’t able to see this doctor through their insurance, they decided to move forward with him anyways. They wanted to see a doctor who was familiar enough with HoFH; a disease that only affects one in one million people. In fact, there are only 400 cases known in the United States.
That’s why they were set on Dr. Gidding.
At Avery’s appointment, Gidding found thickened elbow and ankle tendons and xanthoma on her elbows, which are all characteristics of HoFH. Avery also had a heart murmur; these were all things that the doctors at Johns Hopkins did not find.
“The last thing you want for your child is to hear they will need countless medications… which is suggested as a means of giving her a more stable, ‘normal’ life,” she wrote.
Because Avery had a heart murmur, the doctor ordered an echocardiogram immediately, which showed mild aortic stenosis. Once again, they were thankful that Dr. Gidding had caught it.
After four hours at the appointment, Avery’s family piled into a hotel room, exhausted from the day. But upon returning home, a letter was waiting for them stating that they had been granted approval from the insurance company to see Dr. Gidding. They called it a very pleasant surprise, and the best “good news” they could get in their recent storm of bad news.
Moral of the story? Second opinions are a must.
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