Real-life stories
Meet Julia
Julia and traveling to access SMA medicines amidst medical uncertainty
Julia
Ten days after her birth, Julia was diagnosed with SMA through newborn screening in Poland. The diagnosis came abruptly and unexpectedly. A pre-conception screening in her parents had found no genetic conditions: little did they know that SMA is rarely tested for in these screenings. The diagnosis was communicated to her mother Barbara via phone, with little empathy, leaving her with many questions and no answers.
"It was the end of our 'naïve parenting' era, where you worry about the amount of sweets that your kids have, the amount of quality time you spend with them. We now had to explore dealing with a very difficult genetic condition".
But Barbara and her husband Adam are solution oriented. They started researching SMA and existing medicines. Julia showed no symptoms and was found to carry four copies of the SMN2 gene. At the time, there was no consensus on whether and how to treat this patient profile with medicines. Barbara and Adam read every paper published on the subject and reached out to top-tier authors around the world for advice. Still, they received contrasting recommendations. Some advised against starting treatment in a baby who presented no symptoms. Others suggested beginning treatment through medicines immediately since motor neuron loss is considered irreversible. The idea to wait and see did not sit well with Barbara and Adam. They set their mind on one of the medicines as the best fit for Julia and their family and started another journey: access.
In Poland, this medication was not reimbursed at the time. Barbara and Adam contacted a leading centre for SMA care in a European country, where this medicine had recently been approved for reimbursement. In bitter irony, newborn screening was, and still is, very inconsistently run in this country. Here, pre-symptomatic patients like Julia, who are eligible and would have access to medicines, can remain unidentified if unscreened, and this depends merely on their birthplace. This also meant that local specialists had rarely encountered similar cases before and were initially reticent to initiate treatment with the medicine in the absence of symptoms.
Still, amid this uncertainty, the doctors felt like Barbara and Adam should be an active part of the decision making.
"All the drugs are new and no one can guarantee anything. The doctors felt that it's the right thing to do to include parents and families in the decision-making process, and that's what I'm grateful for. At the end of the day, all consequences and responsibilities are ours."
Julia finally started her treatment through medicines when she was three and a half months old. Shortly later, the medicine was approved in Poland as a second-line treatment reimbursed to patients who were already receiving the drug through clinical trials or other circumstances. The family moved back to Poland, where Julia is now continuing treatment and her happy life as a toddler. Julia reached motor development milestones without delay: sitting at the age of 9 months and walking without assistance at the age of 18 months. She is one of the “invisible patients” who despite diagnosis develop (almost) like healthy children. The future is unknown, but Barbara and Adam are optimistic.
However, it is clear to them that moving countries to seek a preferred treatment course is certainly not something that anyone can do.
"It's very much related to the amount of resources you have. We are lucky because we were in a position to do that, in terms of language, in terms of contacts. But the majority of families have to solve the problem using the resources they have in the place where they are anchored."
Now we're back to mainstream parenting. Thinking about sweets and the Montessori toys because we have done what we could. We think, based on the information we had, we selected the best opportunity for our child, and we are at peace.
With their experience living abroad, English fluency, and educational background allowing them to understand research evidence, Barbara and Adam were in the privileged position to actively seek their chosen solution in ways that others would not have been able to.
This is why they continue to fight for the right of all SMA patients in Poland to access the medicine of their choice. Learning about the different medicines to make an informed choice is vital because ultimately, people living with SMA face all the consequences and responsibilities for this choice.
To protect contributors’ privacy, the names used here are pseudonyms. Interview conducted on 8 March 2024.
No one should have to move across Europe to have access to SMA medicines.
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