Fernanda Aspilche can remember the exact day she learned of her diagnosis with Alpha 1 Antitrypsin Deficiency, a rare disease that often impacts the lungs, affecting breathing.
“The first time that I heard about Alpha 1 Antitrypsin Deficiency was on Wednesday, September 4, 2019,” said Aspilche, who lives in Belgium.
Later, she received a genetic analysis that confirmed her disease and genotype: ZZ. That means she has two “Z” genes, one from each parent. The combination results in Alpha 1, a deficiency in a protective protein called Alpha 1 Antitrypsin, which is made in the liver.
An estimated 100,000 people in Europe and another 100,000 in the United States are ZZs like Aspilche. We asked her about how she’s managing after the first year of knowing she has Alpha 1.
How did you discover that you had it?
For about two years prior to this confirmation, I was diagnosed with having asthma and I have been treated for it. I use an inhaler that contains corticosteroids and is usually prescribed for COPD (chronic obstructive pulmonary disease).
In September 2019, after my regular check-up with the lung specialist, she said to me: “Did I already mention that you might have a rare disease?”
That was the first shock.
“I might have what?”
She said: “A rare disease that is called Alpha 1 Antitrypsin Deficiency.”
I was confused. “What? What is this? How can I cure it? What do I do?” I had never heard of this disease in my life. I had no idea of what it meant or could do to me. I was scared and confused. I guess my parents must have been at least carriers but they didn’t know.
The lung specialist replied: "It doesn’t have a cure; you just need to continue with your regular treatment. You are the first patient I have had who might have this condition and I will need to do some further checks.”
So I wasn’t able to get a lot of information that day. The specialist suggested that I look into this a bit more. She added that there was a lot of information available on the internet and that, once I had read enough, I should come back to her with my questions.
From that day onwards, I have been searching, reading, learning and meeting other Alphas. This is what we call people with the condition.
But today, I am grateful to my lung specialist. She managed to make the right diagnosis. It is not uncommon for Alphas to wait very long – five years or longer – until they get the right diagnosis.
Are you able to access effective treatment in Belgium? If so, what is this and how/where is it administered?
It dependson what you understand by effective treatment. When I started with the treatment, I thought that I had asthma and that the treatment would help me to recover the lung capacity that I had lost. However, now I know that I don’t have asthma; I have COPD due to my Alpha 1 Antitrypsin Deficiency and the therapy I use will neither help me to recover the lost capacity, nor stop the emphysema progression either. It only helps to reduce exacerbations and improve the symptoms (shortness of breath).
I have also been vaccinated against regular flu and pneumonia. This helps in a certain way. I haven’t got any bronchitis for the moment but, on the other hand, it doesn’t stop the progression towards emphysema.
There is a treatment that could help to slow the emphysema progression, which is made of human plasma that contains the Alpha 1 protein that my liver doesn’t produce enough of. Unfortunately, this product is only reimbursed in Belgium to patients who have been diagnosed before 2010 and, although I am Spanish, I live in Belgium and was only diagnosed in 2019. This means I am unable to access a treatment that would stabilize my lungs.
There are other countries in Europe that reimburse this therapy, Germany, France, Italy, even my home country, Spain, and very recently Denmark joined the list. Unfortunately, without Alpha 1 Antitrypsin Deficiency therapy, I guess my only option in Belgium is to hope that my lungs deteriorate before the age of 65, at which point I will be eligible for a lung transplant.
I personally have difficulties understanding the difference in approach within the European Union and would like to think that the different European initiatives (such as ERN-LUNG and EARCO) and the European Directive on Cross Border Health Care – which allows patients in one member state to access health services in another – could also be used to help in these situations. It is something that we would like to further assess within our Belgian patient association, Alpha 1 Plus.
Are you in contact with a support/patient group and/or other people with the same condition? How does this help you?
Yes. This is one of the first things that I did and I am very happy with it. Through undertaking research myself, I quickly found the Alpha 1 Foundation in Miami, Florida, in the United States, and then, of course, Alpha-1 Plus which is the Belgian patient association. Its leader, Frank Willersinn, an Alpha 1 ZZ like me, has been great. He has helped me so much, not only to understand the disease, but also the situation in Belgium and Europe, and what I need to pay attention to but – more important to me – he helped me to feel better.
I have to say that when I found him, I felt understood and supported for the first time. I will never forget the P.S. in his first email, it made such a difference to me: “Don’t worry, I have the same disease as you and I am OK, you will be OK, too.”
What a relief. I don’t think I can even express in writing what this meant to me.
How has having Alpha 1 Antitrypsin Deficiency (AATD) affected the way in which you live your life? Are there things that you can no longer do? Has treatment helped you to live a fuller life?
Up until now, knowing that I have AATD did not stop me continuing with my life. On the contrary, it helped me to understand the importance of living a healthy life, to pay more attention to what I eat, what I drink and to exercise regularly.
It has also helped me to meet fantastic people and organizations such as Alpha-1 Plus, RaDiOrg Belgium, Eurordis, all of which work hard to help patients with rare diseases all over Europe. I am now working here in Belgium with Alpha-1 Plus and RaDiOrg and hope that together we will be able to make a difference for a lot of people and create more awareness amongst the general public and policymakers around AATD and other rare diseases.
On the other hand, I am not getting the Alpha 1 Antitrypsin therapy, which is the therapy that can could help me to slow or stop further emphysema progression. So, I sometimes wonder, sometimes when I am exercising, cycling or running, I think, “How much longer will I be able to do this?” And that feeling is a bit scary.
How has your condition and/or situation been affected by the current COVID-19 crisis?
Well, on one hand, the fact that I don’t have to go to the hospital for infusion therapy means that I expose myself less to the coronavirus. I am at home with my husband and my two children and we try to make the best out of this quarantine situation and most of the time it works.
Both my husband and I are working from home and both my children are home-schooled here too. We are lucky that each of us has his/her own space and it usually works well. Sometimes, like many of us working from home with kids, we experience stressful situations. For example, last week my daughter needed urgent help with her homework while I was in the middle of a conference call with my client. This required some creativity and the use of the mute function, very often used when working from home, to show her what she needed on her tablet.
Since I might be at greater risk of getting the coronavirus, my husband does all the shopping and I have stayed at home all the time. I now do most of the cooking and I am enjoying it a lot. I had to change my weekly running schedule with exercising at home. Last week, I left the house to go for a walk for the first time and I hope I will find the courage to go running outside again. With my condition, exercise outside is very important.
Some of my friends need to go to the hospital to get Alpha 1 Antitrypsin therapy and I can understand that it can generate quite some stress. We would like the relevant authorities to consider different possibilities such as home infusion. If done with the appropriate safety measures, this might be a good alternative. We cannot forget that Alpha 1 patients who suffer from lung disease are at greater risk of having complications, if they were to contract the virus.
Another thing that worries me is how long will I have to stay at home, being a high-risk patient. And will I be really safe when I have to go back to the office? Suffering from a rare disease – and in this case a lung disease – makes me more vulnerable.
I have to say that I am very lucky with my employer. I work at Euroclear, an international financial market infrastructure headquartered in Brussels. Since the outbreak of this crisis, they have put the safety of the employees first and I have been given the flexibility to work from home from day one. My managers and colleagues are giving me a lot of support and encouragement and that makes everything much easier for me! I would like to thank them.
What hopes/aspirations do you have for the Alpha 1 community in your country and across Europe?
In the short term, I would like to see diagnosis improve in Belgium and across Europe, and access to existing treatments, such as Alpha 1 Antitrypsin therapy, is offered to all Alpha 1 patients, regardless of where we live in Europe. The differences between countries that exist today do not make sense to me. We need more standardization of health care at European level.
There are some initiatives that the European Union should continue to support and further strengthen. This includes the work that is being done with the European Reference Networks, in particular the ERN-Lung which has a function for Alpha 1 and also the EARCO initiative. EARCO stands for European Alpha-1 Research Collaboration. It is a pan-European network committed to promoting clinical research and education in Alpha 1 Antitrypsin Deficiency (AATD). The core project is the pan-European AATD Registry
In the medium- to long term - but hopefully not too long - let me dream about a cure for AATD. I think this is the aspiration for the whole Alpha 1 community.