It Took Decades for This Fabry Disease Patient to Get Diagnosed

Dan Baker, a 56 year old former anesthesiologist, knew from childhood that something peculiar and unpleasant was going on with his body. Unfortunately, it would take decades before he found the answer to what was causing his symptoms. His first memories of symptoms were as a young boy playing basketball. After a short time running up and down the court, he would notice a burning pain in his feet; he also noticed most of his peers were sweating during play, but Dan’s skin remained dry. 

“I would push-mow my family’s rather large lawn in the summertime in lake-laden Minnesota at around age 12. When it got warm and humid my hands and feet would burn.” – Dan

About Fabry Disease

Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.

Dan’s Story

His parents initially dismissed Dan’s concerns as growing pains, but Dan did not believe that this was the explanation as the pain was almost unbearable at times. As he entered puberty, he also noticed angiokeratomas (tiny red blood-blisters) appearing on his abdomen and groin, which caused him significant social anxiety but no pain.

After high school Dan got involved with EMS; when he had the chance, he would ask some of the physicians what they thought about his unusual collection of signs and symptoms:

“Most were stumped…others simply weren’t interested, but a few cared enough to sign me up for a blood test…they were looking for lupus.”

Unfortunately, not much progress was made. Years later, during his anesthesiology residency after medical school, Dan’s kidneys abruptly began to shut down. Thankfully his mother was a donor match. Dan returned to work. Years later, his mother called him on the phone after seeing a television program the night before, and while her pronunciation of Fabry was ‘butchered’ as Dan put it, it was a vital starting point for a Google search.

This was in 2006. Dan found info on Fabry disease that matched up with his symptoms. He also learned about the increased risk of heart attack, stroke, and neurological problems, as well as the potential for reduced life expectancy in patients. It was jarring news. It was even more jarring when Dan tried to explain what he had found to his nephrologist and had his concerns entirely dismissed:

“They basically said, in a sympathetic but still very serious way, that they thought I was crazy. They thought it was just too rare.”

By Thanksgiving of 2006 Dan’s symptoms had worsened and he was rushed to the hospital with stroke-like symptoms. A CT scan appeared to reveal a severe irreversible stroke, but after Dan didn’t die as the doctors expected, they conducted an MRI on the insistence of his mother, who had remembered that an MRI could identify characteristic plaques in the brain of Fabry patients.

His nephrologist sent off a blood sample for a Fabry disease test the following week, to the great skepticism and scorn of her colleagues. But the test came back positive. After a subsequent stroke about 6 months later, Dan was forced into medical retirement.

Dan saw a Fabry specialist in Dallas, TX, who prescribed an anti-seizure medication that eliminated the neuropathic pain in his hands and feet that had plagued him for much of his life. He also began taking Fabrazyme, an enzyme replacement therapy from Sanofi, which he continues to this day. This therapy was first approved for the disease by the FDA in 2003 and long term treatment with it can successfully halt the progression of the disease. In April 2018 Dan underwent a triple bypass heart surgery.

Since then, things have been going well for Dan. He doesn’t practice as a doctor anymore, but now lives a rural lifestyle on a 20 acre hobby farm. 

“I want to encourage all the medical professionals out there to really listen to your patients and hear their concerns. Don’t just dismiss them as long shots or tell them they’re crazy. And for the patients out there, be bold and confident in your descriptions, and if you feel like your doctor is dismissing your input, it’s okay to go look for a doctor who won’t.”

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