My son, Brandon, was diagnosed with pneumonia in 2004. He was eight years old. The doctors treated him, brought him in for the follow-up, and were dumbfounded that his oxygen saturation was still 89, post-treatment. After checking his saturation with every machine in the office, they referred us to many specialists. We mentioned to the doctors that we had a genetic disease in the family (HHT) and asked if that could be contributing to the low oxygen saturation. In a condescending manner, the doctors all assured me there was no way HHT would be connected to the problem.
We went to the first specialist who, confused by Brandon’s oxygen reading of 89, also checked their saturation machines. They stated that with Brandon’s low oxygen saturation he should be blue, gasping for air, and in the hospital. My son was running up and down the halls and eager to leave. We had many specialist visits and tests being scheduled.
On the internet, my husband found a blood test somehow related to HHT, and a kind doctor agreed to order it. I took Brandon to the lab only to find they had no idea what the test was or how to run it. I felt lost and alone about how to have my son treated. I found a phone number on the internet for the HHT Center. Without any hope, I called that number. An angel named Jamie called me right back. With much patience, she listened to my long story. She informed me that HHT could definitely be connected to my son’s difficulties (did I forget to mention that his fingernails were clubbed and blue and he fatigued very easily at the end of each day?). She suggested I have Brandon assessed at the HHT clinic in Salt Lake rather than take him to many different specialists in town, all of whom had no idea what to do and were just running multiple tests in hopes of figuring him out.
Visit to Salt Lake City & the HHT Center
I then planned our trip to Salt Lake City and scheduled Brandon’s tests. Before we left, I had to find daycare for my newborn (yes, life was very full). We got to the HHT Center in Salt Lake, where Jamie started by educating us on HHT. This was very helpful as it took some of the fear away. Then the tests started—CAT scans, MRI’s, blood draws (the most difficult for Brandon). In one day, we learned Brandon had multiple AVM’s in his lungs, one of significant size that was making it so his blood was not receiving enough oxygen.
I hope this story helps those who feel as lost as I did and helps them find the path to a wonderful recovery.