Rare disease families deal with a lot. The last thing they should be forced to have on their mind is how to get access to care. Unfortunately, for many parents of children with rare conditions around the world, this is a reality. On top of playing the role of nurse, guardian, therapist, and caregiver to their child, they’re also forced to become activists for their care.
This is the story of Philippe Pakter, his wife, and their fight to have access to an effective treatment for their daughter Lysiane. Lysiane was born in March of 2017 with a rare condition called Pierre Robin Sequence.
Lysiane’s Pierre Robin Sequence Story
Pierre Robin Sequence causes the mouth and jaw to develop abnormally. The tongue is too far back in the mouth, patients are born with a cleft palate, and their lower jaw is much smaller than it should be. These features cause complications with breathing and eating. Infants are typically hooked up to a ventilator which forces oxygen down their airways. They must be connected to the ventilator any time they are asleep which, for babies, is most of the day and night.
This was the case with Lysiane. For the first five weeks of her life she lived in the intensive care unit, hooked up to a ventilator, with no release date in sight.
Her parents were desperate to find a better treatment option for their daughter- something which would allow her greater freedom, mobility, and quality of life. In France, where the family lived, there was one other option. It was a small device inserted in the child’s mouth called palatal plates, which are useful in terms of aiding feeding. However, they do nothing to help the child breathe.
The German version of this device on the other hand resolves both the feeding issues and the breathing issues of this disease. Therefore, it effectively eliminates the threat of oxygen deprivation. In turn, this means the child is no longer at risk for the complications which stem from such deprivation such as brain damage and early death. Additionally, it improves their quality of life by eliminating the need for long-term hospitalization or risky surgery. Patients given the device are hospitalized for 2-3 weeks as their parents are trained in how to use it properly. Then, the baby is discharged, meaning no long-term attachment to a ventilation machine. They can be picked up, held, and live at home with their parents as any young child should.
This German device is called a Tübingen Palatal Plate or TPP, and it’s even more effective than ventilation machines. Ventilators force air down the child’s airways while a TPP stops the actual obstruction of the airways. Additionally, like the French palatal plates, ventilation machines don’t solve feeding issues for children. Furthermore, ventilation can actually cause additional facial deformities for children with Pierre Robin Sequence due to the constant pressure of the masks. One of these deformities is called maxillary retrusion, or the caving in of the upper jaw. Studies of long-term ventilation have shown that maxillary retrusion is correlated with how many hours each day a child is hooked up to a ventilation machine. As stated, for infants with Pierre Robin Sequence, this is most of the day. Contrarily, the TPP can actually work to reduce the deformities these children are born with by providing gentle pressure over time.
In terms of finances, the TPP is also much more cost-effective than ventilation in a hospital because it is only a one time investment. The TPP has 10 years worth of peer-reviewed research studies which have proven its safety and efficacy.
Grateful to hear about this treatment option, Lysiane’s parents began inquiring about how to obtain it for their daughter.
Unfortunately, they found out that the Pierre Robin Reference Centre in Paris did not offer the treatment. While the Pakter family was hoping that it would be available in their home country, they understood that the French center has no legal obligation to offer the German device. However, because France and Germany are both members of the European Union, the family knew they’d be able to obtain the treatment for their daughter under the 2011 Directive. Or so they thought.
The 2011 Directive
The 2011 Directive obligates all EU member states to allow EU citizens to choose whichever medical treatment is best for them, regardless of the country they reside in or which country developed the treatment. The Directive even mentions rare diseases specifically in Article 13.
In essence, even if the Pakter family weren‘t able to obtain the TPP for their daughter in France, there should have been no reason why they couldn’t obtain it in Germany, another EU member state, just next door. The family submitted an application to France’s national health insurance fund, “L’Assurance Maladie” for an S2 form which would allow them to get the TPP from Germany.
L’Assurance Maladie denied the request, stating that travel was not needed because there are adequate treatment options in France. But it was exceedingly clear to the Pakter family, which had done extensive research on the matter, that both the French palatal plate and the ventilation treatment options were simply not as effective. They knew they had to fight back, for the sake of their daughter.
When scientific proof is not enough
For all of the rare conditions which don’t yet have an effective treatment, it’s outrageous that even for those which do, many people still can’t receive the care they need. This is especially shocking in the European Union. Its creation, in essence, was aimed at fostering collaboration between member states in various facets of development. But this collaboration is clearly sometimes more talk than it is action.
Who gets to decide which patients are allowed access to treatment under EU agreement? A group of scientific professionals whose knowledge supposedly reigns supreme. However, in the scientific realm especially, no one researcher can have all of the answers. Unfortunately, pride is often a main prohibitor of access. Scientists spend their lives trying to uncover effective treatments. They often don’t wish to admit defeat or failure by indicating that a different scientist has come up with a better option than their own.
“A rare disease patient in the EU seeking a highly specialized rare disease treatment only available in another EU Member State must essentially ask his or her local doctors to formally admit in writing that the medical treatment they offer is clinically inferior to the medical treatment which has been developed by competing doctors just next door in that “other” European nation. If the treatment is time sensitive, then this letter has to be obtained now, right now, not later. Based on simple human nature, pride, and based on practical considerations as well – a doctor’s understandable reluctance to lose patients to other doctors – this can be a disaster waiting to happen, for an EU citizen who is already struggling with a rare disease.”
The Pakter family was not able to receive treatment for their daughter in France basically because researchers were too prideful to admit that their option was not as beneficial as what researchers in Germany had developed. But imagine how different healthcare would look if this pride were diminished, collaboration were increased, and great minds began working together.
What researchers often fail to realize, is that this pride is affecting real patients, real children, and real families living with rare conditions. Their pride could prohibit these individuals from receiving life-changing care which could significantly improve their outcomes and their overall quality of life. If it were their child, which treatment would they think best ?
How many rare disease families deal or have dealt with this issue? There isn’t good data available on the matter, but it’s likely that it’s a much greater number than those who are vocal about their experiences. It’s clear something needs reform.
Lysiane’s family ended up creating their own nonprofit in Switzerland and in the Netherlands (as it is a member state of the EU) to fight for change. They don’t want any other rare families to have to deal with the same thing they did. You can visit their website here to learn more about their story and their efforts towards the cause.
They also wrote a letter directly to France’s President, President Emmanuel Macron. You can read this full letter here.
Thankfully, Lysiane’s story has a happy ending, but only because her family had the financial capacity and ability to move to another country. They are now living in Switzerland where Lysiane has full access to the care she needs. Lysiane received a TPP and just 6 days after treatment she was able to take a walk in the park with her parents for the very first time.
“Our struggle to exercise our legally guaranteed right to access cross-border healthcare in the EU is not just about our baby Lysiane. And it is not just about us. And it is not just about other babies who are suffering from this particular rare disease, Pierre Robin Syndrome. It is broader than that.”