Kristýna’s Story: “The story of an invisible”

My name is Kristýna, I am 28 years old and am a graduate clerk. I currently work in a supermarket and have been living in Prague for 10 years, but come from Cheb in the Czech Republic. I have a great husband, a wonderful son, a cat, fish, 64 house plants and Loeys-Dietz syndrome.

I have been monitored in cardiology since childhood for frequent dizziness and initially a thinned heart wall at the atrial level. Later in my teens this narrowing turned into a patent foramen ovale (PFO), i.e. I have a hole in my aorta. No one ever suspected that it might be a genetic defect.

My journey of discovery began, without me knowing it at the time, when I was 18 and my grandfather died of aortic dissection. He had had several heart attacks, so no one thought to look beyond his death.

Time moved on, I found a boyfriend, graduated, moved to Prague and started living my adult life. After a few years, we decided to start a family. It worked.

But, when I was nine weeks pregnant, I started bleeding heavily. It was March 8, 2015. A hematoma on my uterus burst, and it was three times bigger than my son. But even that happens commonly and I knew my son was a fighter (just for the record, he had his baptism on March 8, 2016). We managed to get through everything and after a week I came home from the hospital. The world turned rosy for me and that was the first time I said I was absolutely happy. For the first and last time.

I had a big checkup in my fifth month of pregnancy. The baby was fine and they confirmed it was a boy. It was Friday, June 5, 2015. I sent a picture of the ultrasound to my dad that evening. He was so excited to see his grandson. On Saturday, he looked at the photo with my grandmother. They were happy.

Then came Sunday, June 7, 2015. At 9:30 a.m. the next morning, my grandmother called to tell me that my dad had been taken by ambulance with a suspected minor heart attack and how lucky he was. By 10 she was calling to say it was a dissection and that they were putting Dad on extracorporeal circulation and when he was ready they would fly him to Prague. It was awful. Five hours. Five hours of fear, terror, pain. He lost his fight at 1:30.

He had no cardiac history and coincidentally, he’d seen a cardiologist for an evaluation two months before and everything was fine. It’s not common for a healthy man to die so quickly. And from the same cause as his father. That’s why I contacted the genetics clinic at Tomayer Hospital.

My son and I both went for the scan in January 2016. We came to hear the results a month later. My son was only 16 weeks old. The doctor explained everything to me as best he could. He didn’t even know much about Loeys-Dietz syndrome at the time. The report says it’s not rated as pathogenic. I don’t agree with that. It took my grandfather and my father!

The process of reconciliation and understanding didn’t really happen for me. For one thing, I was preoccupied with my young son, and for another, I’m not the kind of person to destroy myself with something that can’t be changed. I took it to mean that I’ve been living with it for over twenty years and the diagnosis is more of a guide to be more careful. Why stress yourself with an untreatable genetic disorder? If it were cancer, I’d be worried about how I’d cope with treatment and whether I’d recover. But this is a part of me and there’s nothing I can do about it. So I keep doing what I used to do and what my body allows me to do and try not to neglect anything. Unfortunately, I know that sometimes even the best efforts may not be enough.

But what bothers me the most is that almost nobody knows about Loeys-Dietz syndrome and as far as I know there are only 5 people with this diagnosis in the Czech Republic, including me, my son and one of my brothers. The other two supposedly live somewhere in Moravia, but they are not even members of the CAVO (Czech Association for Rare Diseases). So I have no one to share my fears with and no one to ask about common everyday worries. As far as health problems are concerned, CAVO is my great support. They will always advise me and possibly help me to find specialists of all disciplines knowledgeable about LDS. However, I cannot address personal issues in this way. For example, how do I explain to my hyperactive son that he will not be an athlete? There is no one to ask. So thank goodness for international organizations like the Loeys-Dietz Syndrome Foundation Canada where I have the opportunity to have my questions answered.

As far as medicine and health care are concerned, I am very lucky to be Czech. The health care here is actually at a high level and so little awareness of LDS is not really a hindrance. Only now recently, unfortunately, I have come across a few neurologists and orthopedists with whom I have encountered severe misunderstanding. It was explained to me that I should spend more time at the fitness center and I’m a hypochondriac. So now I am at the stage of being afraid to ask anyone for help. In time, of course, I will find a suitable doctor through CAVO, but first I have to find the courage.

I am generally optimistic about the future. I’m an optimist. I firmly believe that the public and especially doctors will see that we, the invisible ones, exist. We are invisible partly because we are few, but also because our disease is not visible to us. But one day they will see it. Hope was reinforced in me recently when I had a heart scan and a fifth year medical student was present at the examination. If only you could see how eagerly he devoured information about LDS!!! It gave me hope. Hope that even though we are few in number, we can get doctors and scientists interested and lead them to research and better prevention of the manifestations of diseases like LDS. Hope that some of the scientists or doctors we have here, who are really great and the list of Czech inventions is endless, will make it their goal to help those five invisible people. I would be really grateful for that.

That is why I am writing my story now, albeit very abbreviated. To all of you who have read it and who can see me now, I thank you from the bottom of my heart. I will be grateful for any feedback and I will also be happy if you support me and spread the message about extremely rare diseases and invisible ones. Above all though, think positive because that is more than all the medicine in the world.

To the Loeys-Dietz Syndrome Foundation Canada, thank you for answering my questions and providing a source of support and community. If you are affected by Loeys-Dietz syndrome and are looking for support or resources, you can call them at 1-888-LDS-FCAN.

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