Me, Eleonorka

Hello,

My name is Eleonorka Trčová. I was born to my Mum and Dad on 27 June 2021 in Jablonec nad Nisou.

Now I would like to tell you my story. A STORY OF INCREDIBLE LUCK IN THE FACE OF ADVERSITY.

I had a wonderful time in my Mum’s tummy. All my check-ups went perfectly, with flying colours. I wanted for nothing, caused Mum no problems and was hardly any trouble to her at all.

I was born exactly on my due date, and my arrival into the world was quick and without any complications.

Everything was as it should be after my birth, too.

Mum and Dad were overjoyed with me, and our carefree days continued until March 2022.

While Mum was expecting me, she purchased some courses from a doctor (mklife.cz). These included courses covering everything from caring for a baby to first aid, designed for both expectant and current parents.

After purchasing the courses, you receive lots of useful information, advice and tips, as well as many membership benefits. One of these was a feature called uPOZORník — an email alert highlighting information that parents should not miss among the many articles on the blog. And luckily, Mum did not miss that email. (This is where I first introduce you to the good fortune that was on our side. Had it not been for that one email, Mum would not have found out about this in time.)

The email was specifically about a new option introduced in January 2022: mothers could have their babies tested in the maternity hospital for two additional, very rare and serious genetic conditions (specifically SMA and SCID). The testing was voluntary and covered by the programme.

It also explained that babies born in 2021 — including ME — could benefit from this opportunity, too. Every mother whose baby was born in 2021 could take advantage of this additional screening. The process was simple: you just had to complete a special form and email it in. Once the laboratory received the form, it sent you an email with payment instructions. The cost was around CZK 500.

There was no need to take any new blood or other samples from me. My newborn screening card from the maternity hospital was enough — the card containing the blood samples collected from a baby’s heel at birth. Once the form had been submitted, the laboratory arranged to have the card sent to it. How simple is that?

Mum took advantage of the opportunity straight away.

She thought that, for such a small amount of money, she had the chance to find out something that could affect my entire life.

Of course, she did not expect or even consider the possibility that the results might reveal something relevant to me. After all, I seemed to be a perfectly healthy, active and sociable baby, always getting up to mischief, with absolutely no signs of either of the conditions mentioned above. But you know how it is: “BETTER SAFE THAN SORRY.”

13 April 2022 was THE day no one in our family will ever forget.

Mum’s phone rang, and she was told that the doctors wanted to see me because Mum had taken part in the screening programme and my test for spinal muscular atrophy had come back positive.

The very next day, I set off for Motol Hospital in Prague, where new samples were taken so that the condition could be investigated in detail and confirmed or ruled out.

We all waited seven endless days for confirmation. You cannot imagine what our whole family went through — the uncertainty and the terrible fear my parents felt for me, worrying that I might not be with them for much longer. Mum spent days crying her heart out.

Seven days later, we set off for Motol Hospital with our suitcases packed. Mum had packed everything we might need in case the screening result was confirmed. If it was, I would need to be admitted to hospital immediately and start treatment straight away.

We all continued to hope and pray that the initial test had been faulty and that we would be able to go home that very same day with confirmation that I did not have the condition.

But Mum and Dad were told that, sadly, the diagnosis of SMA (spinal muscular atrophy) had been confirmed.

From that day onwards, my difficult and uncertain journey began — a journey towards one day being able to stand on my own little feet and discover what it means to “stand firmly on my own two feet”.

To make that dream come true, I will need not only treatment (I already received it in May 2022, and my parents and I are incredibly grateful for it), but also rehabilitation, various aids, specialised therapies, spa treatments and rehabilitation stays. Most of these are not covered by health insurance.

I will be writing my story together with Mum, Dad and the rest of my family. So please keep your fingers crossed for me and wish me a journey that is as smooth as possible, filled with joy and smiles.

You can help me by sharing my story with your family, friends, acquaintances and others. Even the smallest donation would mean the world to us. We would be incredibly grateful for every little contribution, and it also means a great deal to us when you follow my story and become part of our journey.

Thank you so much.

Eleonorka and her family.