Aurora’s Journey with SMA

By Dan Potter, her Dad.

Over 10 years ago, my nephew, Jaiden, was diagnosed with SMA Type 1. At the time, medical treatments weren’t what they are today and in September 2012, despite putting up a brave fight, he passed away.

Shortly after, members of the extended family were screened to see if they carried the gene for SMA. This included me and my partner Charli. Our tests indicated my partner was a carrier, but I was not. This meant that we were not considered to have a chance of having a child with SMA.

Our first child, Noah, is now 6 years of age, and is fit and well. In September 2020, Aurora Rose joined the family, and initially appeared to be in good health.

In 2021 Charli noticed Aurora missing milestones and in January 2021 we contacted our health visitor to express our concerns.

Initially we mentioned our family history with SMA, and the health visitor advised us to monitor things closely over the coming weeks and if we didn’t notice any improvements, get in touch with a doctor for further advice.

Unfortunately, Aurora’s development did not start to progress and in March 2021 we spoke to a GP to voice our concerns, however, the GP advised he wasn’t prepared to refer us for genetic counselling based on the outcome of our prior screening and his assessment of her abilities.

Charli was unhappy with the outcome, insisting we were referred for a second opinion, as well as pushing to get some physio to help with Aurora’s obvious low muscle tone.

Around April 2021, the consultant was initially happy with Aurora as she had started to progress through physio; and initially suspected that she had a non-progressive muscular disorder.

As Aurora continued with weekly physio the initial perception was that everything was moving in the best possible direction. However, after Aurora had spent a little while with the community physio team, they started to become more concerned about her muscle tone, most notably relating to head control. They therefore referred her back to a consultant for genetic testing to rule out what was, for us, the worst possible outcome.

On Friday 13th August 2021, Aurora’s consultant confirmed that the results of her genetic tests had returned, and Aurora had SMA.

We were advised that we had already been set an appointment for the following Monday to discuss the possibility of treatment further with the region’s genetic specialists; the specialists advised that we had a range of options, but if we opted for Zolgensma, it would need to be signed of and administered within a month.

At the time, the decision-making process to decide if a child aged 6-12 months is a good candidate for Zolgensma was taking around 6 weeks. Fortunately for us, within 2 weeks of Aurora’s diagnosis, she had been confirmed as a good candidate for the treatment and in late August, we packed our bags to go to Manchester hospital for it to be administered.

Post treatment Aurora continues with her weekly physio and uses some respiratory and mobility aids.

In winter 21/22 we attended an appointment in Newcastle with a leading genetic professor from the local University; we were asked to take repeat tests, to confirm our statuses as carriers / noncarriers.

The repeat tests showed the same results as the initial screenings from 10 years prior, however, specialists now believe that I am what is called a ‘silent carrier’ which means that although my genetic profile shows as a noncarrier in tests, I have got the genetic makeup of a carrier and therefore, have a similar chance to other carriers of having children with SMA. They explained this is an extremely rare situation.

If Newborn Screening had been in place, Aurora’s SMA would have been picked up so much earlier. As a family we want to push to raise awareness for newborn screening because we feel that it would prevent others from having to go through multiple consultations, professional opinions and appointments to get a diagnosis, and children could access the best possible medicines at the earliest available opportunity.