Philippe Pakter’s daughter Lysiane was born on March 29th 2017 in Lyon, France. However, soon after her birth, Philippe and his partner Delphine were hit with shocking news: Lysiane was born with a rare birth disease called Pierre Robin Sequence. Lysiane did not come home; she remained in the hospital, in the Intensive Care Ward, and was attached to a breathing machine to help her breathe. She remained in the ICU for five straight weeks, with no scheduled date of release. Philippe and Delphine were desperate to find a treatment which would resolve Lysiane’s breathing difficulties, and allow her to finally come home. They found one – but things didn’t go as smoothly as they hoped.
Pierre Robin sequence affects approximately 1 in 10,000 babies. It is associated with potentially life-threatening breathing problems, eating difficulties, and oral/facial deformities. Most of these babies have a cleft palate. About half of the time, Pierre Robin sequence arises together with another rare disease, such as Stickler syndrome or Treacher-Collins syndrome. Pierre Robin sequence is frequently treated with surgery to address the breathing difficulties, which can be severe. To learn more about Pierre Robin sequence, click here.
Lysiane’s parents identified a highly specialized treatment developed in Germany specifically for this rare disease. According to a series of peer reviewed medical studies, this German treatment, the Tübingen Palatal Plate, or “TPP” treatment, is both safe and medically proven; it promised to resolve Lysiane’s breathing difficulties, minimize hospitalization time, and achieve all this without painful, risky, and invasive surgery. Lysiane’s parents were filled with hope. They went into action mode, applied to the French government for authorization for this German treatment… but the French government refused.
The TPP treatment is time sensitive, so Lysiane’s family took out a bank loan, and paid for the German treatment out of pocket. They transferred Lysiane from France to Germany to benefit from the TPP treatment. The treatment was successful; the TPP resolved Lysiane’s breathing difficulties, liberated her from the breathing machine, and permitted Lysiane to finally leave the hospital and come home to her parents.
Lysiane’s parents have been actively appealing the French government’s refusal, arguing that Lysiane had a legal right to access this rare disease treatment in Germany. Within the European Union, various laws are in place enabling EU citizens to access healthcare services in other EU countries; this is known as “EU cross-border healthcare”. The European Commission’s SOLVIT Network, after studying the case, formally concluded that France’s refusal of Lysiane’s request for a rare disease treatment in Germany violated EU law, including the 2011 Cross-border Healthcare Directive and Regulation 883.
Lysiane’s family has written directly to the French President, Emmanuel Macron, requesting his help in their ongoing appeal process. Most recently, Philippe sent a letter to the EU Health Commissioner, Stella Kyriakides, requesting an official enforcement action against the French authorities for violating EU law. Philippe’s letter explains how important it is for rare disease patients to have access to care, and he shows that the problems which Lysiane faced arise all too often when rare disease patients try to access highly specialized rare disease treatments. You can read Philippe’s letter to EU Health Commissioner Stella Kyriakides here.
Philippe’s letter received the formal support of 30 highly respected signatories – Members of European Parliament; leaders of international patient organizations and rare disease patient groups; professors of law, healthcare policy, and medical ethics; physicians, and scientific researchers; as well as highly respected leaders in the rare disease movement, some of whom are rare disease patients and family members themselves. You can add your name to this list of 30 signatories and show your support for rare disease patient access to care by signing the petition here.
