Only two months ago we echoed the case of Matilde, a Portuguese baby with spinal cord atrophy who was waiting for a treatment that could stop her disease. The problem was that such treatment was only marketed in the United States, and that it is known as the "most expensive medicine in the world," so his parents decided to raise funds to get it.
Yesterday we learned that Matilde had finally received the long-awaited medication, which has finally been paid in full by the Portuguese National Health Service (SNS). Without a doubt, excellent news that could fill the families of other children like her with hope.
The most expensive medicine in the world
The medicine the girl has received is called 'Zolgensma', a gene therapy valued at almost two million euros; cost given by the nickname of the "most expensive medicine in the world".
Although it has been developed by the pharmaceutical company Novartis (based in Switzerland), it has not yet been authorized in Europe and is only marketed in the United States. But the Portuguese Medicines Agency has authorized its "exceptional use" so that the little girl can have a chance, and the Portuguese National Health Service has paid all the expenses.
With a month and a half of life, Matilde was diagnosed with Spinal Muscular Atrophy (SMA) type 1, also called Werdnig Hoffmann disease, the most severe type of spinal cord atrophy and one of the first genetic causes of infant mortality.In Babies and more The first exoskeleton created in Spain that has allowed Álvaro, a child with spinal muscular atrophy to walk, with the administration of a single intravenous dose, 'Zolgensma' slows the progression of the disease and improves motor functions.
Yesterday we learned that Matilde had finally received the desired treatment, at the Santa María Hospital in Lisbon. Its effects will not be known within a month, but if everything went well the little girl could be discharged between today and tomorrow.
It is not the only medicine to stop AME
'Zolgensma' was approved by the United States Health Agency last May, and is indicated for children under two years with Spinal Cord Atrophy, regardless of its type.
As we can read on the website of the Spinal Muscular Atrophy Foundation (FundAME), clinical trials conducted with this medicine have shown positive results in a wide spectrum of patients with SMA, significantly improving their motor functions. However, its long-term safety and efficacy are still unknown.
"With just one dose, we observe that Zolgensma provides prolonged survival, a rapid improvement in motor function and important milestones that patients never experience if their disease is not treated. "
"These solid data presented in the AAN represent a growing body of evidence that supports the use of Zolgensma as a possible foundational therapy for the treatment of SMA over a broad spectrum of those affected" - commented David Lennon, president of AveXis, a company of Novartis
Although 'Zolgensma' is the first genetic therapy to treat SMA, It is not the only medicine that exists to fight the disease. The other medicine is called 'Spinraza', and unlike 'Zolgensma' its use has been approved by the European Medicines Agency.In Babies and more Sanidad approves the first treatment against Spinal Muscular Atrophy, a ray of hope for children who suffer from it
'Spinraza' arrived in our country in March 2018, being Spain one of the first countries to authorize its use in patients with SMA. Our National Health System finances its cost, estimated at 400,000 euros per year per patient.
Another big difference between 'Spinraza' and 'Zolgensma is the form of administration; Well, in the second case, a single intravenous dose is sufficient, in the case of 'Spinraza' it is administered by lumbar puncture several times a year.
A wave of solidarity that has mobilized an entire country
Matilde's case jumped to the front pages of all newspapers two months ago, with the unspeakable anguish of parents looking for save your daughter's life fighting against the clock. At that time the little girl was only three months old, and had been hospitalized for a month and a half, when she was diagnosed with the disease.
The type of Spinal Muscular Atrophy that Matilde suffers is characterized by severe and progressive muscle weakness, and by hypotonia caused by degeneration and loss of lower motor neurons. The disease also hinders sucking and swallowing, and life expectancy in most patients does not reach two years of life.
So when parents learned that 'Zolgensma' could save their baby's life, they didn't doubt it for a second, and they launched a campaign to raise funds and get treatment. The whole country turned to the family and in less than 15 days the money needed to buy it was raised.In Babies and more Solidarity record: almost five thousand donors registered to save the life of a child with leukemia
But the media pressure that has reached this case He has finally made the Portuguese National Health Service have financed the entire medicine, and not only for Matilde, but also for another baby named Natalia who was admitted to the same hospital.
And although this treatment could significantly improve the lives of both babies, they are unfortunately not the only Portuguese children with SMA type 1, since it is estimated that up to six children among the 80,000 newborns each year are likely to be diagnosed with this pathology.
It is because of that the parents of the little girl have decided to help with the money raised to other families in the same situation, while they hope that the "exceptional use" that this medicine has had for Matilde and Natalia, can be extended to the rest of sick children.
This was communicated by the family in their Facebook account just a few hours ago:
"Hello dear, I am reacting very well and I am in a good mood. Today it is my dad who will talk to you."
"Today is a very happy and important day for us, because they have given our baby the medicine that could cure it. Both we and Natalia's parents, Andrea and Fernando, have their feet on the ground, but we firmly believe that our girls will overcome the expectations and limitations of their illness, and that their lives will change. "
"However, today we have tried to overshadow this happy day by changing the focus of the donations we are receiving"
"Dear friends, donations are still in the account we opened for Matilde. This account has been approved by MAI and its use is controlled. We still don't know how much money we are going to need for Matilde now and in his future, but We have already started contacting other families to help them"
"July 7 began our mission to help other babies with the same disease as our daughter, and now I know that was my destiny. We are currently awaiting confirmation to move forward with the help of two families with the same disease as Matilde, and we will also begin to help other children with SMA type II. "
"Each child and each family has different needs, and it is they who tell us what they need and how we can help them. And this is what we will continue to do."
"We are very sad because in a day as happy as today we do nothing but listen to false testimonies and news, which are due to an absolute lack of information. And at that time journalism should be used to help, and not to the opposite. We hope you continue by our side and believe our words. "
"We regret that for some the money is more important than the lives of our babies. We remain the same, and all we want is to recover our humble life with Matilde. Kisses to all from Matilde and her parents."
We will follow this case closely, and hopefully we can continue to share with you Matilde's advances and the extensible use of this medicine to the rest of European children with spinal cord atrophy.