With Fabry disease, I often juggle multiple symptoms at a time
Having a variety of issues has made improvement more difficult
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Because having Fabry disease means unexpected things often happen to me, I always have fresh topics to write about. Recently, I’ve experienced several odd occurrences.
While I was asleep on the night of April 23, I felt a severe pain in my right calf and heel. Half awake, I massaged my calf and heel for a few minutes, then fell back asleep.
I do frequent movement and physical therapy exercises with and without weights, as well as pushups, so after thinking about it, I figured it was probably just a muscle cramp from exercise. In the morning, I walked away from my wife, Angela, in the kitchen, and she noticed a red circle on the back of my calf. It was warm and slightly swollen. We both realized the pain in the night must be a blood clot, that is, a deep vein thrombosis (DVT).
DVTs require an urgent medical evaluation because clots can break loose, travel to the lungs, and cause a life-threatening pulmonary embolism. Angela drove me to the emergency room for an evaluation. Luckily, it wasn’t a clot, just a spider bite that mimicked the signs of a clot. The pain at night seemed disproportionately severe for the size of the red circle around the center of the bite. I was just relieved I didn’t have a blood clot.
A vitamin D deficiency can be serious
The immediate scare was over, but the laboratory tests at the ER revealed my sodium level was 134 mmol/L, below the normal range of 136-145 mmol/L. On March 6, it had been normal at 142 mmol/L. I started drinking a 20-ounce Gatorade Zero first thing in the morning, replacing my 17.9-ounce bottle of Aquafina water, which has no electrolytes. I also changed the water I drink for the rest of the day (4 to 5 bottles) to electrolyte water.
A week later, while walking on the treadmill, my heart rate ranged from 110 to 130 beats per minute (bpm) as I did intervals at 2.5 to 3.5 miles per hour with inclines from zero to 10%. Twice while walking, my heart rate suddenly dropped to 40 bpm, then returned to its previous level with my pacemaker’s help. After I finished walking, I sent a transmission to my Duke electrophysiologist using my home monitor and emailed the clinic to let them know I had sent it. A review of the transmission showed the sudden drops and pacing, but no apparent cause.
On May 6, I visited my primary care physician for muscle weakness and slow muscle recovery after exercising. We discovered Vitamin D insufficiency at 27 ng/mL. Normal is 30 ng/mL to 100 ng/mL. Vitamin D deficiency is common in people with Fabry Disease, and can be serious, as researchers believe it may increase the risk of heart complications.
Like having a second job
On May 7, I visited a nutritionist to discuss my prediabetes diagnosis. Among other changes, the nutritionist recommended a higher dose of vitamin D3 with an appropriate dose of vitamin K2 to ensure the D3 metabolizes in my bones, not my arteries. She also recommended Inositol to help with prediabetes.
As always, when other healthcare providers recommend medication or supplement changes, I check with my heart transplant team to ensure they are OK to take. The transplant team could not recommend vitamin K2 or Inositol because their effects on my antirejection medicines (tacrolimus and prednisone) have not been well studied.
Unfortunately, most of the foods I can eat that are high in vitamin K2 are also high in saturated fat. Eating them in the recommended quantities to support proper vitamin K2 metabolism is not advisable, as it would substantially increase my saturated fat intake.
I resolved to take a vitamin D3/K2 combination and get monthly tacrolimus and vitamin D labs to monitor the effects of these medications. Prednisone level cannot be checked.
Juggling all the concerns with muscle weakness and slow muscle recovery, low vitamin D, low sodium, heart rate drops, and prediabetes remedies is like working a second job in addition to managing the National Fabry Disease Foundation.
I have experienced mild to severe muscle weakness many times over the years with Fabry disease. It’s not always easy to determine the cause or combination of causes. Living an increasingly sedentary lifestyle with progressive heart failure before my heart transplant in 2020, toxicity to certain medications, past bouts of vitamin D and vitamin B deficiencies, decreased lung function, and other possible reasons have made improvement more difficult.
So I do the best I can and keep moving.
Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Fabry disease.
Angela Gorham
My diagnosis is very new . One of the things I have had is muscle weakness and fatigue in my legs. Before my diagnosis I got iron treatments, I had an ablation for my heart and I also had a hysterectomy which was causing its own problems. I am hoping that these things all help to some extent. When I asked my doctor about leg fatigue I didn’t get a lot of response. I have been trying to get to the bottom of the leg fatigue and if it was a symptom of Fabry. I guess it just feels validating to know that others experience this. I have had low vitamin d levels in the past but I didn’t know that was common in Fabry. Thank you for sharing.
Karen Lynch
Thank you for that article. We are all not alone. We have our fabry community.
Nadine Brantley
Be sure to take that D3/K2 combo with some kind of fat for proper absorption
Mandy MacNeil
I totally understand