My journey to a diagnosis of hereditary transthyretin amyloidosis (hATTR) was long, confusing, and wrought with uncertainty.
I began coaching gymnastics in 2000 when I was 16 years old. For the past 22 years, this has been my career, both competitive and recreational. As a small child, I was very active. I loved to tumble. In my teens and 20s, I slowed down a bit. My exercise regimen became minimal. Even more so when I married at age 22, then had my first child at age 24.
It was not until I had my third child at age 30 that I started to focus on my health and fitness. I began enjoying running and yoga. I then became heavy into resistance training as well as plyometrics. My fitness peaked around age 35.
The only ailment was that I sometimes struggled with depression and stress caused by working full-time and being a mother of 3 young children. My marriage was also troubling. Physical exercise was my outlet.
The first symptom I can recall was around age 34. I had tingling and cramping in my legs and feet, usually at night. I also had very cold toes. I also noticed around this age how uncomfortable shoes became. Any type of slip-on shoes or sandals would fall off my feet. Tennis shoes were the only option.
My emotional distress appeared to be amplified by my physical symptoms. At age 35, I filed for divorce. By age 36, it was finalized. As I became more stressed, my depression worsened, and my desire to exercise decreased. I also began experiencing lots of gastrointestinal issues such as frequent nausea, gas, diarrhea, and constipation. On a side note, I had intussusception as an infant. Throughout my life, I experienced some digestion problems and was told that was caused by the removal of part of my large intestine. However, most of these issues appeared to improve with a balanced diet.
Read about experimental therapies for hATTR
In 2021, a lot of the weakness and gastritis became the biggest problem. I noticed a significant difference after I received the Janssen COVID-19 vaccine that March. My leg cramping and numbness continued to worsen. I was now unable to jump, run, or walk on my heels or toes, which made coaching gymnastics challenging. It was around this time that I was driving a school bus for an afterschool program. While driving the bus was not a difficult task, my legs became very stiff after every route, which made walking difficult. As weakness continued, I noticed an abnormal gait. My feet slapped to the floor with every step. People began to notice and asked if I was limping.
Aside from my physical symptoms getting in the way of my job, they also affected my overall well-being. The weakness and fatigue made it too difficult to accomplish a workout. Not to mention the fear of not being able to make it to the bathroom in time while at the gym. I was frequently having poor bowel control which really started to interfere with life such as gym time and work. As gastritis continued, I noticed that I was not experiencing hunger cues. I had to consciously remind myself to eat such as by setting timers on my phone. Aside from irritability, I was beginning to forget what being hungry felt like. Some days, it was hard to swallow.
Not only was I experiencing chronic illness, but I also had a limited support system. I was adjusting to a new life of being a single mother of 3 children and my illness left me feeling isolated and alone. Both of my parents passed away a few years previous. My mother had several health complications leading up to her death, including a diagnosis of anorexia followed by a chronic inflammatory demyelinating polyneuropathy (CIDP) diagnosis in 2014. I can recall conversations and complaints of neuropathic pain. She also had a couple of strokes and a heart attack shortly before her passing.
Because my mother was diagnosed with anorexia, my sister was concerned I had the same disorder. I was becoming very thin and frail looking. At one point early-mid 2022, she tried to have an intervention with me in an attempt to have me hospitalized and treated for an eating disorder. This was very upsetting. While I struggled to gain weight, I did not have an eating disorder. I was very sick but did not know what was happening to my body and why.
The next couple of months were very eventful. In June 2022, I was prescribed prednisone and mirtazapine, which improved my appetite. In this same month, I had an EGD test performed in which I was given my own diagnosis of CIDP. I began monthly intravenous immunoglobulin infusions of Gammagard (5 days every 4 weeks) with a monthly gram of Solu-Medrol. After 3 months, my weakness had not improved.
In August 2022, I had my first visit with my neuro-ophthalmologist. At that appointment, he expressed suspicion that I may have amyloidosis. He noted vitreous opacities in my eyes. There were also notes written in my chart from my previous ophthalmologist where he noted the same suspicion. He sent a message to my neurologist. Within a few weeks, a blood test was ordered, drawn and a genetic mutation was confirmed. My next test a few weeks later concluded I have hATTR with the p.Glu74Gly variant.
While this is not an ideal diagnosis, I believe my prognosis is good. My kidneys are functioning well. My cardiologist does not expect that the amyloid protein has infiltrated my heart, but I will need to have an MRI just to be sure.