Dear readers, we get to know so many families through this blog – we find it very enriching. Some stories are particularly moving and the interviews stay with us for a long time. This is one of them. We can hardly comprehend what Stefanie and her family are going through. The burden they are carrying is incredibly heavy. That’s why we’re saying a particularly big THANK YOU today. Thank you for opening up like this. We wish you lots of strength for the road ahead.
Dear Stefanie, your life changed completely in 2014. Tell us what your life was like before.
My husband is an emergency paramedic and I’m a civil servant. We have a nice little semi-detached house and live in a village with 2,000 inhabitants on the outskirts of Lübeck. We were a „normal“ sweet little family. Today we have three children: Jonas is 10 years old, Neele is 6 years old and Lenja is 1 year old. My husband is 37 years old and I am 35.
Let’s go back to 2014. It started on vacation in America.
My sister lives in America with her husband and two children – she fell in love with an American when she was an au pair, got pregnant and stayed. So we visited her almost every year, this time I was alone with the two children (Jonas was five years old at the time and Neele was just under two). Neele was sitting on my lap, I felt a lump on her leg and at first I thought it was something in the bone. We went to the hospital to rule out a broken bone. The doctors quickly suspected a tumor and so we got on the next plane home. Everything happened very quickly there, and ten days later Neele was already on her first chemo. This was followed by surgery to remove the tumor and more chemo. This went on until May 2015, after which we went to family rehab and Neele was able to go back to nursery school in September 2015. We thought we had made it through.
In 2017, your husband suddenly got worse.
That’s right, from March 2017 he complained of nausea, night sweats and headaches. We consulted all kinds of doctors, but no one knew what it was. Most of them guessed „just before burnout.“
But that wasn’t it.
On August 2, I got a call from my husband. He said that the side of his face was drooping and that he thought he’d had a stroke. He said that he loves us, but that he feels so bad that he doesn’t know if we’ll see each other again. His mother drove him straight to the hospital and I went too. At the hospital he was diagnosed with terminal cancer. The doctors gave him another 2-3 months and said: „If the four of you are still celebrating Christmas together, it’s great luck.“ A little later, a biopsy revealed that he had a very rare mutation of lung cancer and he was given a drug that worked well.
Can you remember your feelings and thoughts when your husband was diagnosed?
It was just shock. The absolute nightmare. I was in my early 30s and the thought that my two children could grow up without a father… It was just a shock.
The doctors finally became suspicious that first Neele and then Dad were ill and did a genetic test.
Exactly. Neele also had to go for check-ups every three to six months and the doctors pricked up their ears when they heard that two family members had developed cancer so early. Incidentally, my husband’s father also died of cancer at the age of 39 and my mother died of breast cancer in her early 40s. So cancer was suspiciously common in our family. The genetic test revealed that Neele, my husband and our son Jonas all suffer from Li-Fraumeni syndrome. This is a rare genetic defect that is the cause of frequent and early cancers of all kinds. It affects 400 families worldwide. Thanks to the diagnosis, we finally knew why we were so affected – and that we were not to blame. We took the diagnosis as an opportunity to monitor the children closely. This meant: check-ups every three months, MRIs every six months and a visit to the doctor whenever there was a change (headaches, bruises).
You became pregnant in the middle of this time. As the syndrome is hereditary, you briefly considered abortion, but then decided against it. Can you tell us about this decision?
Yes, I must have become pregnant in November. At first I thought we wouldn’t be able to have this child. I didn’t even know whether my husband would still be alive when the baby was born. And what if the child inherited the genetic defect? And yet: I couldn’t abort the child. It just wasn’t possible. Right after Lenja was born, blood was taken from her umbilical cord to test whether she was also affected. She did not inherit the genetic defect and is completely healthy. She is my miracle.
Unfortunately, your older son Jonas also fell ill recently.
Yes, we knew that Jonas also had the genetic defect. Everything was still okay in the initial examinations, but from September 2018 he started to get headaches more and more frequently. At first, we hoped that he just needed glasses and that the headaches were caused by eye strain. At the beginning of 2019, a head MRI confirmed that he had a brain tumor. Within a few weeks, everything deteriorated and he had an inoperable bithalamic glioblastoma. His chances are close to 0. He recently had radiation and chemotherapy, but the brain tumor continues to grow. Now there is a last attempt with another chemo.
How is your husband doing?
At first the medication worked well, but then he became resistant to it. He took part in a drug trial that actually gave us another year together. The cancer has been spreading again since August and he has over 30 metastases in his head.
How do you not go crazy despite knowing that almost the whole family is terminally ill?
There are days when I’d rather not wake up. Our life is like a nightmare that you can’t wake up from. We’ll never live together again without worry. We can’t say: „Everything will be okay again.“ What I have left is the hope for a miracle – or at least for time together.
How do you get through all this as a couple?
We no longer plan anything because we know that it really can all be over from one second to the next. We appreciate everything and are grateful that we are all still together.
What do you wish for?
I would have loved to have a happy family and, above all, a carefree childhood for our children. Now I wish that I can make my children’s lives as beautiful as possible despite their fate. I would also like to raise awareness of Li-Fraumeni syndrome so that other people have a chance of being „saved“ through early detection.
