Nienke’s Alpha story

My name is Nienke, I’m Dutch and I am a linguist. I love playing with languages and I’ve worked as a translator and interpreter for many years. I’m married to a loving husband, I have two children and two incredibly cute grandchildren. I live in Germany; we’ve moved here almost four years ago to fulfil an dream: building our own house.

My career has been as sinuous as my diagnostic trajectory as an Alpha. The work-related path of my life has always been full of road blocks and virtual ‘do not enter’ signs. Once I’d chosen a certain road, my health would get in the way and block me from pursuing my goal. And although I have tremendous willpower, I never managed to remove the heavy road blocks. Time and again I was forced to look for another road and improvise. My motto became ‘When nothing goes right, go left’.

As a language lover, I studied French language and literature at the University of Amsterdam and obtained my master’s degree. I’ve worked as a French teacher, I’ve travelled the world as a flight attendant, I’ve been a subtitler for the Dutch television, a manager at a high school… a variety of jobs with one common denominator: my health problems forced me to quit. I ended up working from home as a translator French/English/Dutch, which meant I would (in theory) be able to manage my energy level better.

My Alpha diagnosis followed the same erratic trajectory. For years, I was sent from pillar to post, and no doctor was able to help me. Afterwards I realised that many medical professionals think: ‘Now this disease is so rare, the chance my patient suffers from it, is almost non-existent, so why test on it.’ Sometimes statistics can get in the way of a proper diagnosis.

I was first diagnosed with alpha-1-antitrypsin deficiency 25 years ago. I experienced shortness of breath and I was chronically tired. I was referred to a lung specialist, who discovered that the amount of AAT in my blood was very low. However, I was dismissed as a heterozygote. This means I had inherited two different genes from my parents, but only one faulty one, and the pulmonologist told me my AATD would never cause problems. The diagnosis even disappeared from my medical file.

However, the problem with AATD is that it will not go away. Since your lungs are not protected by alpha-1-antitrypsin, the damage will get worse over time. I’m convinced the disease is responsible for many other physical problems as well, but that is hard to prove. Each Alpha is different. Of course, I’ve seen many doctors over the years, but most often you are left to your own devices when there is no clear diagnosis. In the Netherlands, doctors told me: ‘it’s all in the head’. They said: ‘you’re too ambitious, stop working’. Or: ‘go see a psychiatrist’. I guess I don’t need to explain why I’ve developed a true doctor phobia.

In 2019 I could no longer avoid medical care because I coughed a lot, I had severe shortness of breath, and at night I woke up gasping for air. My energy level was practically zero and my body and mind were in constant inner conflict. I stopped working as an interpreter and online teacher because of voice issues. That really hurt, because I missed being in touch with other people.

Inside my head I wanted (and still want) to do thousands of things. Long walks with our dog, city trips, attend courses, learn a new language… Unfortunately, my body does not allow it. I find this incredibly difficult to deal with.

So, I plucked up courage, went to see my family doctor and he referred me to a pulmonologist. The waiting time for an appointment (even before corona) was six months. In the meantime at home I browsed the parts of my medical file that I had kept and I stumbled upon the AATD-diagnosis of 1995. Barely legible, printed with a matrix printer. I started a Google search and found an German Alpha doctor. I called his secretary and she offered me an appointment a week later. I accepted.

This Alpha1-expert tested my AAT-level, and when it came up really low, he sent my blood for phenotyping and genotyping, by means of the AlphaKit. He called me a month later, and told me I have an extremely rare form of alpha-1-antitrypsin deficiency. Heterozygote, yes, but two different alleles that both cause AATD. He ordered a few more tests and I had to come back in six months for lung function testing. My lung function isn’t all that bad, so I don’t meet all the criteria for augmentation therapy (yet). I must admit I find it a bit odd that Alpha’s have to wait until their condition deteriorates before they get treatment, all the more since the lung damage is irreversible. On the other hand, I understand, because the treatment is very expensive. I’m very fortunate to live in a country where Alpha’s can receive treatment. Thank you, Germany!

Over the last six months I’ve learned a lot about AATD. I’ve joined the German and Belgian patient associations and I’ve e-met some very active and supportive members of Alpha1-Plus Belgium. I run their Twitter-account, and I post – and translate – interesting articles on the website. I’m very happy to be an Alpha advocate.

My hopes for the Alpha-1 community in my country and across Europe are that patients will join forces and create awareness. Alpha-1-antitrypsin deficiency is really easy (and cheap) to diagnose. One blood sample will do the trick. Level too low? Perform further testing.

Personally, I find it strange that patients in EU-countries do not have the same right to treatment. They can live 10 kilometres apart, separated by an open frontier, and one patient is treated and the other is not and becomes very ill. This phenomena is even stranger in Belgium: patients who were diagnosed before 2010 receive treatment, and patients that were diagnosed afterwards are denied augmentation therapy. Extremely unfair.

I think we should aim for one European treatment guideline for people with a severe genetic illness such as alpha-1-antitrypsin deficiency. Why wait? There is work to do!

I’ve recently stopped working as a translator and I’m now trying to regain some of my energy. Since I’ve started oxygen therapy at night, I’m feeling somewhat  better. Slowly but steadily I will get there. Life is too short not to enjoy it to the fullest and make an effort for the people and causes that you cherish!