IN A NUTSHELL: How to take part in the pilot programme for early detection of SMA?

According to the doctors, Mum apparently saved my life.

And it was all thanks to an email she happened to open by chance. And this is what it said:

“From January 2022, the nationwide newborn screening programme was expanded to include two more important conditions. Screening for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) was newly introduced.”

This means that, with their mother’s consent, babies born from January 2022 onwards can be tested at the maternity hospital, free of charge.

There was another important piece of information, marked with several exclamation marks. And this one was about me.

PLEASE NOTE: These tests can also be carried out retrospectively for all children born in 2021.

And that included me! Thank goodness Mum took advantage of this opportunity.

So, how do you go about it?

Mums who would like to arrange retrospective screening for children born in 2021 need to take the following steps:

Complete the informed consent form together with the paediatrician of your choice.

Email a copy or scan of the signed consent form to karolina.peskova@vfn.cz.

The best part is that no further procedure is needed. The test is carried out using the blood spot card that the laboratory already has on file. (The card contains dried blood spots collected from the baby’s heel shortly after birth.)

Each mother has to pay for this test herself, and it costs CZK 453.

Once you have sent the form to the email address mentioned above, the laboratory will send you an invoice. After you have paid it, the laboratory will arrange everything else itself.

Don’t worry if nobody contacts you afterwards. THAT MEANS YOU’RE AMONG THE LUCKY ONES, because a positive result has been ruled out. You will only be contacted if the test result is positive.

You can download the form here, along with the methodological guidelines for the pilot laboratory screening programme for SMA and SCID:

https://nsc.uzis.cz/sma-scid/#dokumenty

Finally, I would also like to thank Dr @mklife_prvni_pomoc_detem (you can find her on Instagram or at mklife.cz) for sharing this information on her page.

Mum discovered her profile before she became pregnant and continued following it. During her pregnancy, she purchased some of the doctor’s courses, which included, among other bonuses, emails containing the most important information that parents shouldn’t miss.

Thank goodness Mum didn’t miss those emails, and my disease was detected relatively early, before I developed many symptoms.

Thanks to the doctor and my mum, I now have a much greater hope of living a life in which I can walk through the world on my own two little feet.

It’s a long and difficult journey, but one filled with hope.

E.