Age-related macular degeneration (AMD): Ursula Gueffroy
Dear Ms Gueffroy, you have been affected by AMD for quite a long time. When did you first notice AMD and did you have symptoms that indicated it?
I didn't notice AMD myself at the time. It was only when I had my glasses checked in 2002 that the ophthalmologist noticed that I had macular degeneration. Unfortunately, the doctor didn't give me any clues about the symptoms at that time. However, I knew the disease very well, as my mother had suffered from it and went almost completely blind within 15 years. Knowing this, the diagnosis came as quite a shock to me. At the time of diagnosis and even six to eight years later, I had no impairments whatsoever. But the thought that the disease was progressing accompanied and paralysed me the whole time.
How far has the disease progressed today?
Currently, my macular degeneration is very advanced, it has worsened a lot in the ten years. I can still see about ten percent in my left eye and five percent in my right eye. In the last few years, the deterioration has been faster than in the years before.
How does this affect your everyday life?
My multiple limitations started about seven years ago when I had to give up driving. I can only cycle when I am familiar with the area as my vision is blurred and objects 1.5 to 2 metres away appear out of focus. Due to risk of tripping, I always look at the ground when walking. In the beginning, I often fell down. However, this affects my perception of the surroundings. I do not recognise people coming towards me directly, but by their physique and voice. I need more time and concentration, this makes me unsafe in crowds or on the street. I love nature and in my allotment garden, which I have had for many years, I unfortunately only recognise the plants on the ground when I bend down. When I go shopping, I can no longer see the prices, even in the shop windows. Even at home, although I have designated places for things like keys, I often have to search and ask for help. Despite these multiple limitations, I can surprisingly live carefree and happy, something I would never have imagined before. My attitude plays a decisive role in this.
What in particular helped you to go this way?
I have repeatedly sought advice from the AMD network hotline and a local counselling centre. I use the various aids mentioned there a lot in everyday life. I was also always advised to join a group. At first I was very worried and afraid of seeing others who were worse off than me. But especially the group where we learned how to use iPhone and iPad and exchanged ideas helped me a lot personally. People are at a similar age, at a stage in life when ageing starts with many symptoms. It helps when someone says, "oh, I know that too, I'm struggling with that too", you can take courage again and then you can laugh together about what happened to you.
What message would you like to pass on?
I always thought my life would be grey. But over the decades I have noticed that my personality is not lost, no matter what happens. I have contact with people and do things that bring me joy. I still paint and am currently taking up photography. I am still the same person and I just need to change the way I do things.
This interview was conducted and recorded by AMD Netz (AMD Network) and translated by SciFiMed.
Listen to the whole interview here.
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IgA Nephropathy (IgAN):
(interview provided by F. Poppelaars)
Can you tell us about your disease?
I have IgA nephropathy, which is an autoimmune disease that affects the kidneys. Basically, it damages the parts of your kidneys that are responsible for cleaning the blood by removing the bad stuff while keeping all the good stuff. Because of this, IgA nephropathy causes a lot of problems for your body. It’s not very commonly diagnosed, but kidney disease in general does affects a lot of people.
When did you first notice symptoms, and how was your disease diagnosed?
As a child, I had blood in my urine a couple of times, and the doctors did some tests, but nothing really came of it. Looking back, that could have already been the start of the disease. Then, a few years before my actual diagnosis, I started feeling tired a lot. I also had swelling in my legs and lower back pain, but I thought it was just stress and lack of vitamins. When I went to my general physician because I thought I had another urinary tract infection, that’s when my doctor discovered I had protein in my urine. At first, they considered other causes, but when my blood tests showed my kidneys were struggling, they decided to do a biopsy, and that’s when I was diagnosed with IgA nephropathy. It was a scary moment, lots of changes, and it was difficult not knowing what to expect.
How has your disease changed or progressed since your diagnosis?
After I was diagnosed, I was put on a bunch of medications, and at first, my kidneys improved a bit. For a few years, my blood tests looked okay, and the protein levels in my urine stayed stable. But then, during one of my checkups, my kidney function had suddenly dropped, and the protein levels in my urine were much higher. They put me on really strong medication, which came with a lot of bad side effect. Since there’s no specific treatment for IgA nephropathy, we didn’t have many options. Unfortunately, it didn’t work, and eventually, my kidneys failed, so I had to start dialysis. Luckily, I was able to get a kidney transplant, and so far, everything has been going well.
How has this disease impacted your life?
At first, everything happened so fast—I didn’t really process it until I looked back and realized just how much had changed. The hardest part for me was being on dialysis because it was so isolating. It took up so much time that there wasn’t room for anything else. But now, after my kidney transplant, I can do most things again, and I sometimes even forget that I had IgA nephropathy.
What do you know about the cause and mechanisms of your disease?
Basically, it’s a disease where certain antibodies, called IgA, build up in the filters of your kidneys. This causes inflammation, which leads to damage in your kidneys. IgA nephropathy is a complicated disease because it’s not just one thing, it’s a mix of different problems coming together, and it involves other organs and your genetics. But my doctor told me they still don’t fully understand the exact causes and how the disease starts.
What’s something you feel is still missing for people with your disease, based on your experience?
For me, the biggest thing would be a treatment that can prevent the need for dialysis, because adjusting to that was really tough. My whole schedule had to revolve around it. I had to go to the hospital three times a week for half a day. It stopped me from doing so many things, and I missed out on a lot of important events. My kids couldn’t go on vacation during the summer because of me. Plus, dialysis itself was hard. I would often faint. And when I got home, I’d spend most of the day sleeping just to recover my energy.
Our research consortium, SciFiMed, is developing a new test that could be relevant for your disease. What would you want it to be able to do?
It would be great if the test could detect IgA nephropathy, especially since I might have had it as a child and didn’t know. If we had caught it earlier, maybe things could’ve been different. I also worry about my own children. There’s always that concern that they could develop IgA nephropathy too, and if that happens, I hope we can identify it sooner, because it could really make a huge difference to catch it early and preventing the kidneys from being too damaged where dialysis is needed.
What’s something important for patients that we should keep in mind while developing this test?
It would be amazing if I could do the test at home. Right now, I have to go to the hospital for it, and since I don’t live super close, it can be really inconvenient. My checkups are important, so I always make sure to do them, but having the option to do it at home would make a huge difference. It just seems like it should already be an option. After all, we had COVID tests that we could do ourselves at home, and that worked well.
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Atypical Hemolytic Uremic Syndrome (aHUS):
(interview provided by F. Poppelaars)
Can you tell us about your disease?
I have atypical hemolytic uremic syndrome (aHUS), a very rare but life-threatening disease that causes tiny blood clots to form, damaging your organs. This can lead to a lot of different health problems, with kidney failure being one of the most serious. There is no cure for aHUS, but it can be suppressed and controlled with treatment.
When did you first notice symptoms, and how was your disease diagnosed?
In my case, it all started about a week after my son was born. At first, I just felt unwell, like I was coming down with the flu. But things got worse quickly. Eventually, I was having trouble breathing, so I had to go to the hospital, and they ended up admitting me. The doctors ran a ton of tests to figure out what was wrong, but it took a couple of days before they finally diagnosed me with aHUS. Since the disease is so rare and difficult to treat, I needed to be transferred to the academic hospital for specialized care. In the hospital they started my treatment, after some time my blood values were improving, so I was allowed to go home. Several months later the results of my genetic testing reveled I had a mutation, which was the final proof for the aHUS diagnosis.
How has your disease changed or progressed since your diagnosis?
Because of the treatment we were able to suppress the disease and get it under control. After a year, we stopped the treatment because not all patients require lifelong treatment and it’s very expensive plus you must go into the hospital to get the infusions. It went well initially, but then I got a second episode years later. I’ve been back on the treatment ever since and made a good recovery.
How has this disease impacted your life?
Physically, my kidneys took a hit from the aHUS, but they’re still working well enough that I can do everything I want without issues. Mentally, I’ve become more aware of changes in my body, and I do get a bit nervous if something feels off, wondering if the aHUS is coming back. I still need to go to the hospital for treatment and have regular blood work done, but overall, I feel like I’m able to live a normal life again. On a positive note, I realize how important your health is, and I make sure that my family and I live healthy.
What do you know about the cause and mechanisms of your disease?
The disease is caused by mutations [in the genes] of the complement system, which is a part of the immune system. Your immune system is made up of different parts, kind of like how the military has different branches like the Air Force, Navy, and Army. The complement system is one of those parts, and because of my mutation, it can throw things out of balance. With the medication they can suppresses the complement system, but it doesn’t fix my mutation. But having the mutation alone doesn’t mean you’ll develop aHUS. There also needs to be a something that sets it off. In my case, it was the pregnancy. My sister has the same mutation as me, but she never developed aHUS. Even when she gave birth, everything went smoothly for her. So, there’s clearly more to it that we don’t fully understand yet.
What’s something you feel is still missing for people with your disease, based on your experience?
A treatment in pill form! Right now, I have to go to the hospital for my treatments, and they administer it through an IV. My veins are really hard to find, so it often becomes a bit of a struggle to get the treatment. But I’m part of aHUS patient group on social media, and I’ve heard that they’re testing pill treatments now. That would make things easier. Our research consortium, SciFiMed, is developing a new test that could be relevant for your disease.
What would you want it to be able to do?
See if the aHUS has come back before health problems start. When I stopped the treatment after the first episode, we weren’t sure if the aHUS would return. It definitely made things uncertain at the time. My doctor explained that there wasn’t really a test to track it in between episodes. So we waited until I had another episode and I had to be admitted to the hospital again, which is when we realized the aHUS was back.
What’s something important for patients that we should keep in mind while our research consortium, SciFiMed, is developing a new test?
That it would work with urine. When I go for a checkup, some of my tests are already done using urine, but some require blood work. As I said, I’m not a fan of needles, so if there’s a way to do the test without drawing blood, that would be a big plus.
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Systemic Lupus Erythematosus (SLE):
(interview provided by F. Poppelaars)
Can you tell us about your disease?
I have lupus, which is a serious disease because it makes your immune system attack your own body. It causes inflammation in different areas, like the skin, joints, and sometimes even the heart. Lupus is difficult to diagnose for doctors because its symptoms vary a lot from person to person and mimic those of other illnesses.
When did you first notice symptoms, and how was your disease diagnosed?
I've had various health issues over the years, like being tired, having rashes in my face, and some heart-problems. I went through a lot of doctor’s visits and tests trying to figure out what was going on. It took a while to know it was lupus. Over a year ago, I was finally diagnosed with lupus.
How has your disease changed or progressed since your diagnosis?
My health has been improving, and my doctor and I are working together to find the right medication for me. A lot of the inflammation in my body has gone down, which is a good sign. Recently, though, I started having pain in my hip. If I move too fast, I get these sharp pains. After talking to my doctor, they told me I’ll probably need a hip replacement soon, which feels a bit strange since I’m still young.
How has this disease impacted your life?
Lupus has a big impact on my life. I take a lot of medication and have had my fair share of hospital visits. Even though I’ve been managing it, I still need regular tests to check if it’s affecting other parts of my body. Some days, I feel completely fine, and life feels normal. Other days, it’s more challenging, and I’m reminded that I have a chronic illness. It’s not just something that affects me, it also has an impact on my family.
What do you know about the cause and mechanisms of your disease?
When I was first diagnosed, I didn’t know much about lupus, except for hearing about it occasionally. It was a bit confusing at first, so I started doing some research online to learn more. The thing is, there’s still a lot that’s unknown about the cause of lupus. That’s why more research is so important, it would help us get better tests, treatments, and a better
understanding of the disease.
What’s something you feel is still missing for people with your disease, based on your experience?
There are many things that are still missing for people with lupus, at least based on my experience. One important thing is raising awareness among doctors. Since lupus is so difficult to recognize, it can take some time before the doctors figure it out. If doctors had a bit more awareness and understanding of the disease, it could help lead to faster diagnoses. And getting diagnosed sooner can make a big difference in controlling the disease. Our research consortium, SciFiMed, is developing a new test that could be relevant for your disease.
What would you want it to be able to do?
Predict which treatment will work for you. I’ve tried several different medications and combinations over time to see what helps. It can be frustrating for lupus patients. If there was a test that could predict which treatment would work best from the start, it would save a lot of time and avoid some of the frustration of the trial-and-error process.
What’s something important for patients that we should keep in mind while our research consortium, SciFiMed, is developing a new test?
One thing that’s important for me is that the test is quick. With a lot of tests for lupus, it takes so much time to schedule, or do, and then get the results. All that waiting can be stressful and adds to more uncertainty and worrying. So, having a test that provides a quick result would be great.
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