October 18, 2018, the sweet wait came to an end. During pregnancy, emotions are always on the surface. You imagine what it will be like to have the baby in your arms and even what kind of education you want for him. You imagine a perfect, innocent life, full of unconditional love.

That’s how it was during the first hour of Leo’s life. I can’t explain how much happiness I felt.

After that sweet and tender hour with my baby, I was told that plastic surgeons would come to the room to examine Leo’s little hand. The thumb of his right hand was literally dangling because the metacarpal bone was missing.

From that moment on, everything started to get complicated. The geneticists came to examine him, and then he was admitted because he was not eating, and his weight was very low. The desperation of a mother not being able to see or hold her baby is horrible. He was in the incubator and I could barely hold him for a few hours a day. After 10 days, he was discharged, and we were able to stay with him for five days at home before being admitted again for a urine infection.

Our nightmare dragged on

This time, they detected that he had grade IV vesicoureteral reflux and the right kidney was smaller than the left. Three days after he was admitted, he began to convulse. A baby barely 20 days old convulsing is an image that I will never forget. Our nightmare dragged on longer than expected and new and increasingly disparate diagnoses emerged.

Leo had bilateral sinus thrombosis (blood clot forms in the brain’s venous sinuses). The neurologists told us that he would probably not be able to walk or speak and he would probably have other significant effects from the clots. We went into shock and all I could ask was, “What can I do?” We went to an early care center, I asked for an evaluation at CRECOVI (a specialized hospital in Spain). I bought some recommended books to do exercises and stimulation games at home. They detected a clotting problem, and he now needs Heparin or Sintrom for life.

Now he is two years old, and against all odds, he walks, talks, runs, jumps and is up to speed cognitively.

Once at home, we were able to enjoy Leo to the fullest for several months, while also attending various specialists to monitor his development. We had appointments at:

• Hematology, to control coagulation.
• Nephrology to see the development of the right kidney and reflux.
• Endocrinology, to follow up on bone, radius and thumb studies.
• Neurology, for the blood clots in his brain.
• Plastic surgery, for the right thumb.
• Dermatology, for some brown spots and a mosaic on the back.
• Genetics, where they tried to find out if all of Leo’s issues had a single diagnosis or if they were isolated.

The diagnosis

In January 2020, I received a call from the genetics doctor informing me that all the tests they carried out were negative. To me, that news seemed like the most encouraging in the world because it meant Leo did not have any disease. He then told me that he wanted to do one last test to rule out a disease called Fanconi anemia. It was the first time I had heard this of this disease and fear took over my body. I began to imagine the worst, but I decided to think that surely that would also be negative.

On August 20, 2020, while enjoying a family vacation in San Sebastián, the genetics doctor called me again and this time it was to confirm the fear that had been in my head since January of that same year: “Leo has Fanconi anemia”. I had to pass the phone to my husband because my world fell apart.

From that moment on, an enormous sadness invades me. I see life from a different perspective. We have to fight every day to make Leo a happy child, while on the inside, I’m heartbroken. I cannot think about the future like I did during pregnancy; our future is the present itself.

Learning to live with uncertainty

In November 2020, doctors found a Wilms Tumor in Leo and we are currently fighting to eliminate it. These are hard times, very hard times, and I also know that this is the beginning of something that we will have to live with. The path will be long – at least I hope so – and I don’t want to think about what will happen. Uncertainty is the factor that makes us the most nervous and anxious, but when it comes to your day-to-day life, you must learn how to live with it.

Since he was born, Leo has been a very curious, happy, restless, loving baby and my goal is to ensure that he never loses any of those qualities because I love all of them and they make our life wonderful.

I must thank the Fanconi Anemia Foundation (Spain) for all the support they have given us and the hope they give us every day. Without them this path would be full of uncertainties and unknowns. Being able to count on experts and families in the same situation means that we can control our own situation much better. If you have a family member with Fanconi anemia, do not hesitate to contact the Foundation to be part of this great little family. They say that unity is strength and today this sentence takes on all its meaning. Thanks for being there.

La historia de Leo en español (See this story in its original version in Spanish)