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Despite Medical Training, a Rare Disease Patient’s Long Road to Diagnosis

Frank Willersinn discovered he had Alpha-1 and then became a vocal advocate.

Frank Willersinn, who is living with the rare genetic respiratory disease alpha-1 antitrypsin deficiency
Frank Willersinn, who is living with the rare genetic respiratory disease Alpha-1 antitrypsin deficiency

MARBURG, Germany - Frank Willersinn trained as a doctor, but it still took decades for him to get a diagnosis and treatment for his rare disease, alpha-1 antitrypsin deficiency.

“I had no sign of chronic obstructive pulmonary disease (COPD), but sometimes chronic bronchitis such as a smoker might have – and I thought nothing of it,” said Willersinn, a German citizen who now lives in Brussels, Belgium.

Especially common in people of European descent, someone who has alpha-1 antitrypsin deficiency lacks an important protein. The condition weakens the lungs over time, causing what is also known as genetic COPD . A shortage of alpha-1 antitrypsin also can cause liver disease.

Willersinn owes his diagnosis to his wife, a physician, who recommended he get blood work to test his liver and kidney function. At first, the lab questioned his results and asked him to redo the blood test. On the second try, he still had no alpha globulins in his blood and the diagnosis was clear.

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He was 45 at the time and had already endured a devastating health crisis. Two years earlier, an infected mosquito bite caused an infection so severe, his left arm had to be amputated. News that he had yet another medical problem was hard to accept.

He said his initial reaction was: “I have no time for that. I’ve just lost my arm, I have to learn to dress myself, to eat with one hand, to drive a car.”

Willersinn, who left medicine to found an eco-friendly paint company, focused on making this monumental adjustment, but eventually sought out a lung specialist. He began treatment in 2008 and started educating himself about the disease, emerging as an energetic advocate for patients who have Alpha-1. He co-created a Belgian patient group and founded another patient-driven organization called Alpha-1 Plus asbl, of which he is the current president. He’s also a member of the German patient group Alpha-1 Deutschland e.V.

That would be plenty, but here are some of his additional leadership roles:

“I would describe Frank Willersinn as the super-advocate for Alphas worldwide and a driving force for the Alpha-1 Global movement,” said Tim Frost, a member of the steering committee for the international patient interest group, Alpha-1 Global.

Willersinn is focused on awareness, detection and standards of treatment for all Alpha-1 patients, he said.

“Regarding awareness, for example, Frank has traveled throughout Europe to find Alphas, help them form patient groups where none had existed, and strengthened patients’ groups where they needed encouragement,” Frost said.

Willersinn recently joined with six other Alpha-1 patients – each from a different European country – on a visit to CSL Behring’s manufacturing site in Marburg, Germany.

Willersinn says there’s more to be done in Europe, where only 15 of 46 public health services offer reimbursement for Alpha-1 treatment. Too few are diagnosed and too few get treatment, he said. Willersinn describes his own health as good. “I mainly need no bronchodilators. I can ride my home trainer bike in the morning. I do not need oxygen support and stairs are not really a problem for me.”

When he meets newly diagnosed people, he urges them to get in touch with other people living with Alpha-1 and help build the peer-to-peer network that is so needed. 

“Get out of your isolation,” Willersinn said, “Stay in contact and care about yourself.”