My name is Brad. I was diagnosed with HMERF in 2021, and I had an interesting journey to get to this place in my life.
I grew up in a typical, happy, middle-class family and was a very healthy child and adult. In my early 40s, I noticed that physical activities were getting harder for me, I was short of breath, and I had to begin limiting my physical activities. At that time, I told myself that this was a normal part of aging and didn’t worry about it. The shortness of breath progressed over the next few years, and I was becoming less active. Eventually I got to a point where stairs made me breathless, and I couldn’t sleep lying down flat. I was sleeping wedged on three or four pillows just so that I could breathe.
One day, after a horrible night of sleep, I went to sick time at my local doctor’s office, and he sent me directly to the emergency room. In the emergency room, they had no idea what was wrong, admitted me, and began giving me different tests. The doctors couldn’t determine the root cause, so they decided to conduct an MRI to see what else was going on. Since the MRI required me to lie flat, I had to be sedated and ultimately ended up on a ventilator for over a week. This was a life-changing decision for me. I am very fortunate I had an advocate who pushed doctors to move me to Rush Hospital in Chicago, knowing I needed more advanced treatment.
At Rush, they were able to revive me and eventually get me off the ventilator, which was the path to making me healthy again. Finally, after plasmapheresis and 21 days, I was discharged with a BiPAP to use while sleeping at home. My original diagnosis was Myasthenia Gravis, but after a year of treatment with no change in my condition, genetic testing was started. After many rounds of managing symptoms and genetic testing, I was correctly diagnosed with HMERF.
About three years into my journey, my mom went into the hospital and was having trouble breathing. While she was there, I talked to her neurologist and told him about HMERF. He hadn’t heard of it until I shared it with him. The next day, the neurologist researched HMERF and said there was a good chance she could be suffering from this genetic disorder, given all the same symptoms. Since this is a rare genetic disorder, there is limited treatment of any kind for it; we manage the symptoms. In the end, my mom had a tracheotomy and died shortly after. While she was never confirmed to have HMERF, since this is a hereditary condition, there is a good chance she suffered from it but was never diagnosed.
I currently work for Eli Lilly as a Quality Engineer and have been in the pharmaceutical industry for my entire career. I am trying to keep active to keep the progression of HMERF at bay. I currently have a couple of electric bikes with pedal assistance, a kayak, and a treadmill. I try to spend time outside when it’s warm, but on ozone action days, breathing can be hard. I cannot lie down without my BiPAP to assist with my breathing. I need to monitor my walking, as my legs get tired and my CO2 can start to elevate. I attend a muscular dystrophy association clinic twice a year at Rush Hospital to track the progression of my condition.
I have one son who is a packaging engineer working in the pharmaceutical industry. He has not been genetically tested but knows the symptoms and watches for them. I am really hoping that this genetic mutation ends with me in my family.
