Annual Visit: Year 4 Life as a v122I Carrier
Ever wonder what an annual visit looks like for a symptomatic, undiagnosed V122I carrier?
Here’s what an annual appointment looks like for me.
Year four.
Two days.
Echocardiogram
EKG
Vitals in multiple positions
Questionnaire
Chest X-ray
Bloodwork
Fat pad biopsy
Visit with my nurse practitioner on day one to review the past year
Visit with my nurse practitioner again on day two to walk through what we are seeing so far
Full cardiology exam
Full neurology exam
And then… we wait.
My prealbumin has moved from abnormal into the normal range over the years, which is a positive sign. In amyloidosis, lower levels can be associated with instability of the protein. So while my standard tests are not showing clear progression, it is reassuring to see this improve. There is still a lot we do not fully understand in my case, but it may suggest things are more stable at a level we cannot always see, and that treatment like diflunisal could be helping.
My heart is looking good.
Fat pad biopsy is negative for amyloid.
My neuro exam… a bit of a mixed bag.
My vitals on standing were a little iffy.
So we wait until Friday to see what this year brings and what comes next.
This is what life in the in-between looks like.
Not sick.
Not quite well.
Just aware.
Living with the V122I genetic variant comes with numerous uncertainties, especially when symptoms fluctuate and diagnostic results are often in-between clear outcomes. From my personal experience, the annual visit is both a medical checkpoint and an emotional milestone. Over the years, I've learned that consistent testing such as echocardiograms, EKGs, and blood panels including prealbumin levels can provide subtle yet valuable clues about disease stability or progression. For instance, seeing my prealbumin levels rise into the normal range was a hopeful sign indicating less protein instability, which is a critical factor in amyloidosis. I’ve also found that the fat pad biopsy, which was negative for amyloid deposits, is an important step in confirming the absence or presence of systemic amyloidosis, giving me peace of mind or prompting further action as needed. Neurological exams often reveal varied results; some days the symptoms feel more manageable, on others they are challenging. Monitoring vitals in different positions helps detect orthostatic changes that might otherwise go unnoticed. Two-day visits with a nurse practitioner to review the past year and current findings allow a deep dive into trends and changes which are too subtle for a single snapshot. Waiting for results can be nerve-wracking, but patience is key in managing a rare disease like this. Importantly, treatments such as diflunisal may play a role in stabilizing the condition, though the science is still evolving. A comprehensive cardiovascular exam ensures that the heart, often affected in this condition, is closely monitored and remains in good condition. I’ve also realized the significant value of awareness—knowing your family history and connecting with communities such as #hATTRNextGen and #AmyloidosisAwareness has empowered me to advocate for timely screenings and better care. My journey reflects living in the in-between zone—not sick yet not completely well—but fully aware and proactive. If you or a loved one carries the V122I variant, regular follow-ups with multifaceted testing and a supportive medical team are critical aspects of maintaining health and quality of life.