Pierre Robin Sequence, a rare disease
As a result of Pierre Robin Sequence, our child’s rare disease, Lysiane suffers from three orofacial deformities:
- micrognathia: an undersized and underdeveloped lower jaw, and retrognathia: the abnormal rear positioning of her lower jaw toward the posterior;
- glossoptosis: the abnormal backward retraction and verticalized positioning of her tongue toward the rear of her throat, obstructing her pharynx and blocking her airway;
- a cleft soft palate, connected to the presence of her tongue in a retracted and verticalized position toward the rear of her throat during prenatal development.
In informal language, micrognathia means that the baby has a very small lower jaw and chin; retrognathia resembles a severe “overbite”. A cleft soft palate means that there is a small hole in the soft, rear roof of the mouth. However, the second technical term, glossoptosis, is more difficult to visualize. Since glossoptosis is the deformity which generally poses the most serious threat to the Pierre Robin Sequence baby’s health and development, it is worth providing the following illustration.
Normally, the tongue lays down flat, horizontally, on the floor of the mouth. When a baby suffers from glossoptosis, the tongue remains bunched up, in the back of the mouth, and it is raised up, almost vertically. In the image below, the large pink/red object is the baby’s tongue.
By looking at the illustration above, one can see why this is an extremely dangerous position for the tongue to be in. In this position, the baby’s pharynx (upper airway) is almost completely obstructed. When a baby with Pierre Robin Sequence is struggling to breathe, you don’t just see the look of panic on the baby’s face; you can also hear the sound of the baby’s tongue obstructing the baby’s upper airway, as the baby fights to get air down, or to get milk down.
The medical files from Lyon indicate a dangerous and difficult birth, with an Apgar score of 1 / 4 / 8 / 8. An Apgar score of “0” indicates apparent death; Lysiane was born with an Apgar score of just “1”, on a scale of 1 to 10. Initial emergency resuscitation efforts included manual ventilation assistance; this failed, so in her 3rd minute of life, Lysiane received a laryngeal mask. In her 29th minute of life, Lysiane was intubated – a tube was placed into her mouth and through her airway, and connected to a ventilator machine, which pushed air into her lungs. She was then rushed to the Neonatal Resuscitation unit (“Réanimation Néonatale”), which provides Croix-Rousse’s highest possible level of urgent care, for newborns in the most precarious conditions of health. According to the French medical record (“Résumé de Séjour”) Lysiane suffered from respiratory distress as a result of inhalation of clear amniotic fluid, as well as upper airway obstruction caused by Pierre Robin Sequence (“ILAC + obstructive sur séquence de Pierre Robin”).
On her second day of life Lysiane was extubated. After 6 days in the Neonatal Resuscitation unit, Lysiane’s condition was stabilized. She was then transferred from the Neonatal Resuscitation unit, to the Intensive Care unit (“Soins Intensifs”).
In the Intensive Care unit, treatment of her upper airway obstruction and respiratory difficulties consisted of prone positioning – Lysiane was placed on her stomach to sleep. Prone (stomach) sleeping is a practice which is strongly discouraged for healthy babies, because numerous medical studies have demonstrated a five to ten times increase in the risk of Sudden Infant Death Syndrome when babies are placed on their stomach to sleep. In the Intensive Care unit, we were told that the purpose of stomach sleeping for a child suffering from Pierre Robin Sequence is that when the baby is sleeping on her stomach, her face is pointing down; this causes her tongue to fall forward in her mouth, and thus out of the way of her throat. With the tongue falling forward in the mouth, and out of the way of the throat, the baby’s Pierre Robin Sequence upper airway obstruction is temporarily relieved. Lysiane’s prone sleeping was monitored by medical equipment, presumably intended to limit the dangers of Sudden Infant Death Syndrome.
In spite of prone (stomach) positioning, Lysiane continued to face both breathing difficulties and feeding difficulties. The medical record indicates that Lysiane suffered from respiratory fatigue, signs of struggle, hypercapnia – abnormally high levels of carbon dioxide in the blood – and desaturation – abnormally low levels of oxygen in the blood (“fatigue respiratoire avec signes de lutte et hypercapnie”; “désaturations avec signes de lutte”). As a result, after less than one week in the Intensive Care unit, Lysiane had to be put back onto a ventilator machine, due to her continuing respiratory difficulties. Lysiane was connected by tubes to a machine providing high flow ventilation assistance. This ventilator machine helped her to breathe, and ensured sufficient levels of oxygen, thus preventing the risk of brain damage caused by repeated episodes of oxygen desaturation.
Lysiane never came home. She was born in Croix-Rousse hospital, and she remained in Croix-Rousse hospital, in the Intensive Care unit, where she was receiving high flow ventilation assistance – with no scheduled date of release. This continued until we, Lysiane’s parents, finally decided to take our baby’s life and health into our own hands, and transferred her from France, to Germany. In Germany, Lysiane received a highly specialised medical treatment, the TPP treatment, for her rare disease, Pierre Robin Sequence, at the Universitätsklinikum (The Tübingen University Hospital) in Tübingen, Germany, on 2 May 2017.
The TPP treatment which we wanted – an introduction to the TPP treatment
As Lysiane’s parents we wanted Lysiane to receive a specific medical treatment for her rare disease: the TPP treatment. The TPP treatment is the only Pierre Robin Sequence medical treatment available today which removes the baby’s upper airway obstruction, and which at the same time also corrects its underlying anatomical cause – glossoptosis – without any surgery whatsoever. This fact, that the TPP treatment removes the baby’s upper airway obstruction, and corrects its underlying anatomical cause, glossoptosis, renders the TPP treatment fundamentally different from the ventilation assistance Lysiane received during the first five weeks of her life.
Here is a photo showing an example of the TPP device:
Below is an illustration showing how the TPP works. The large pink/red object is the baby’s tongue. In the cross-section image on the left, the Pierre Robin Sequence patient has no TPP device; the abnormal rear position of the tongue blocks the upper airway, creating potentially life-threatening breathing and eating difficulties. In the illustration on the right, the TPP device is in place; it is represented by a dark blue line. The dark blue line begins at the upper alveolar ridges (where the upper front teeth will eventually grow), continues along the upper palate, covers the cleft in the palate, and then extends down. In the image on the right, toward the right side, we can see this downward dipping dark blue line extension pushing the base of the tongue left, toward the front of the mouth. By shifting the tongue forward, the TPP device instantly liberates the throat – without any invasive surgery.
On the left, without the TPP device; on the right, with the TPP device
The TPP treatment is a medical innovation which was developed at the Tübingen University Hospital’s Department of Orthodontics in Tübingen, Germany. It is provided through the Interdisciplinary Centre for Craniofacial Malformations, a centre which encompasses multiple departments in the hospital: The Department of Orthodontics, The Department of Craniofacial Surgery, and The Department of Neonatology. The Chairman of The Interdisciplinary Centre for Craniofacial Malformations is Professor Dr. Christian Poets. Dr. Poets is also the Coordinator of Tübingen University Hospital’s highly specialised Pierre Robin Sequence knowledge centre, a knowledge centre which is officially recognized by the Orphanet database as being a Centre of Expertise for Pierre Robin Sequence. We, as parents of a child suffering from Pierre Robin Sequence, carefully read several TPP medical studies published by Dr. Poets and his colleagues. We then made contact with Dr. Poets directly, in order to learn more about the TPP treatment.
Requesting the TPP treatment: our efforts with Dr. Abadie, and other doctors
According to the 2011/24/EU Directive on the application of patients’ rights in cross-border healthcare, an EU citizen seeking planned cross-border healthcare involving hospitalisation should apply for and receive prior authorisation from his or her “Member State of affiliation” (i.e. the country in which the patient lives), before the patient obtains the cross-border treatment. If the patient is suffering from a rare disease, a recognized expert on the rare disease must provide the patient with a medical certificate which confirms the efficacy of the proposed cross-border treatment, and which confirms the non-availability of the proposed treatment in the patient’s Member State of affiliation. Thus, as part of the application procedure, a patient suffering from a rare disease must begin the process by consulting one of these recognized experts, at a Centre of Expertise for the rare disease.
Article 13(a) in the 2011 Directive formally names the EU’s Orphanet database as an official directory listing of all of Europe’s Centres of Expertise for each rare disease.
The Orphanet database makes no reference to any Centre of Expertise for the rare disease, Pierre Robin Sequence, in Lyon. This fact can be confirmed by visiting the following page on the Orphanet website, which lists no Centre of Expertise in Lyon:
Because there is no Centre of Expertise specialised in the rare disease of Pierre Robin Sequence in Lyon, we contacted the main Centre of Expertise for Pierre Robin Sequence for all of France. Orphanet identifies this main Centre of Expertise for all of France as France’s “Reference Centre”; this Reference Centre is based in Paris, and is located at Necker Hospital. The following link to the Orphanet website confirms that Orphanet identifies the Pierre Robin Centre at Necker Hospital in Paris as being the Reference Centre for all of France for Pierre Robin Sequence:
The Reference Centre at Necker Hospital is managed by Dr. Véronique Abadie.
On 7 April 2017 we sent Dr. Abadie an e-mail in which we asked her (1) whether the TPP treatment is available in France, and (2) if the TPP treatment is not available in France, whether she would write us the medical certificate we needed in order to submit our application to L’Assurance Maladie to receive this cross-border healthcare in Germany. This 7 April email we sent to Dr. Abadie was both detailed and clear, and left no room for misunderstanding:
“Therefore, we would like to ask you:
1. Is the ‘Tübingen Palatal Plate (TPP)’ device available in France?
2. If the ‘Tübingen Palatal Plate (TPP)’ device is not available in France, would it be possible to provide us with a letter of reference, so that our child can receive the TPP at the Tübingen University Hospital. This letter will allow us to make a request to the French Department of Social Security, for financial support of the treatment. If the financial support is not total, we are able to cover the difference. According to Professor Poets, his department has already treated children from other European countries, such as Austria and Hungary, so they already have a procedure in place for admitting patients from the European Union. We would be pleased to put you in direct contact with Professor Poets, in order to exchange information on the transfer procedure.”
“De ce fait, nous souhaiterions vous demander:
1. Si l’appareil ‘Tübingen Palatal Plate (TPP)’ est disponible en France?
2. Si l’appareil ‘Tübingen Palatal Plate (TPP)’ n’est pas disponible en France, serait-il possible de nous fournir une lettre de référence afin que notre enfant puisse recevoir le TPP à l’hôpital universitaire de Tübingen. Cette lettre nous permettra de faire une demande particulière à la sécurité sociale pour un support financier de prise en charge. Bien que si ce support financier n’est pas total, nous sommes en mesure de couvrir la différence. D’après le Professeur Poets, son département a déjà traité des enfants d’autres pays européens comme l’Autriche et la Hongrie, donc il existe une procédure pour admettre des patients membres de l’Union Européenne. Nous serions heureux de pouvoir vous mettre en relation directement avec le Professeur Poets afin d’échanger amplement sur la procédure de transfert.”
On Monday 10 April 2017, we discussed by telephone the health of our child, Lysiane, with Dr. Abadie. Dr. Abadie explained that she knows Dr. Poets in Tübingen, and she knows his work. Regarding the TPP treatment, Dr. Abadie told us:
“I know this technique and I know Professor Poets. It’s a technique which works. It works, it’s undisputable.”
“Je connais cette technique et je connais le Professor Poets. C’est une technique qui marche – ça marche, c’est indiscutable.”
Dr. Abadie also confirmed that this medical device, the TPP, is not available in France, England, or in the United States of America. The TPP device is a medical device custom made for each particular patient by a team of German medical professionals using highly specialised healthcare technology, which requires a particular concentration of expertise, located only in Germany. Dr. Abadie explained to us:
“The TPP treatment is not a generalized treatment. It’s very local, it’s done only in Germany. You have to go to Germany for this treatment.”
“Le TPP n’est pas un traitement généralisé. C’est très local, c’est fait qu’en Allemagne. Il faut aller en Allemagne pour ce traitement.”
Toward the end of this April 10 phone call, we asked Dr. Abadie if she could help us in getting this treatment. She told us that “you have complete freedom” (“vous avez toute la liberté”). Hearing this from Dr. Abadie, the head of France’s Reference Centre for Pierre Robin Sequence, was extremely reassuring to us as parents. It was reassuring because she was the top Pierre Robin Sequence expert in all of France, and she had not only confirmed the medical effectiveness of the TPP treatment with total certainty, but she even knew Dr. Poets. Also, it was reassuring because our child was suffering from a rare disease, which strikes only one baby in approximately 10,000 babies. This rare disease requires highly specialised knowledge and expertise – but experts are few and far between, and Orphanet identified no Centre of Expertise for this rare disease in Lyon, where Lysiane was being treated. Thus we told Dr. Abadie how grateful we were to speak with her.
We specifically told Dr. Abadie during this 10 April phone call that Orphanet does not identify a Pierre Robin Sequence Centre of Expertise in Lyon, where we were based. Dr. Abadie assured us that this would not be a problem; she then asked us who was in charge of the neonatology department where Lysiane was being hospitalized. We told Dr. Abadie that the director of our hospital’s neonatology department was a doctor named Dr. Picaud. She said that she would contact Dr. Picaud.
The above describes our initial, reassuring contact with Dr. Abadie.
Unfortunately, our subsequent efforts with Dr. Abadie proved to be remarkably different. Regarding the medically proven TPP treatment, she had assured us that “you have complete freedom” (“vous avez toute la liberté”). It would take us weeks to learn that what she was really saying was, “You can do whatever you want to do, or in any case you can try to do whatever you want to do, but don’t think for a second that you’re going to get a single bit of help from me.” In total, we asked for Dr. Abadie’s assistance obtaining the TPP treatment five separate times:
- in the April 7 email, described above;
- during the April 10 telephone call, described above;
- in an email my partner and I sent her the evening we returned from a trip we took to Tübingen, to visit Dr. Poets and learn more about the TPP treatment (she never responded);
- in another e-mail, which contained a detailed proposal we wrote to submit with our S2 application for L’Assurance Maladie, requesting the TPP treatment (she never responded);
- In a paper letter which we sent to her at the Necker Hospital in Paris, using certified mail (“une lettre recommandée avec avis de réception”).
Dr. Abadie knew that Orphanet identified no Centre of Expertise in Lyon, so we would not be able to obtain the medical certificate we needed for our S2 application from our local physicians; thus she knew we relied totally and completely on her.
Therefore Dr. Abadie, by ignoring our request for the medical certificate, and by eventually ignoring all of our emails altogether, effectively prevented us from even submitting our application to L’Assurance Maladie in the first place. If Dr. Abadie had told us on 10 April, when we spoke with her by telephone, “I will not give you the medical certificate which you are seeking”, then we never would have dedicated three weeks to pursuing her in search of the certificate. Instead, we would have known that waiting for a medical certificate from Dr. Abadie would be a hopeless waste of time. This would have allowed us to proceed with other plans.
Ultimately, the only way we succeeded in getting Dr. Abadie to write anything at all was by sending her a paper letter from the Post Office using official, certified mail. This is regrettable. Dr. Abadie is the director of the Pierre Robin Reference Centre for France, at Necker Hospital, which is funded by the French government. The Pierre Robin Reference Centre at Necker Hospital includes, in its mission statement, “Facilitation of patients’ access to care” (“Facilitation de l’accès aux soins des patients”). As parents of a baby suffering from a rare disease, it should not have been necessary for us to resort to certified mail in order to finally elicit a response from Dr. Abadie regarding our request for an S2 medical certificate.
Furthermore, during our 10 April phone call, Dr. Abadie had assured us that she would be in touch with Dr. Picaud, the director of neonatology at our local hospital in Lyon. We believed that this meant that she was going to instruct Dr. Picaud to facilitate the transfer of Lysiane from his neonatal department in Lyon, to the hospital in Tübingen, to obtain the medically proven TPP treatment which we were seeking. However, at a meeting we had with Dr. Picaud on Friday 21 April 2017, Dr. Picaud stated very clearly that he could not write us the medical certificate which we needed for our S2 application; Dr. Picaud specifically told us that only Dr. Abadie could do this.
In addition to the five separate times we asked Dr. Abadie for her help, we also pleaded with our local physicians in Lyon to help us. We expressed our strong interest in the medically proven TPP treatment for Lysiane’s rare disease:
- Monday 3 April, when we met with Dr. Hays;
- Tuesday 4 April, during a meeting with the surgeon, Dr. Gleizal;
- Wednesday 5 April, during a meeting with Dr. Mory Thomas;
- Wednesday, 5 April, in an e-mail we sent to Dr. Franco;
- Thursday 6 April, during a meeting with Dr. Ragouilliaux;
- Friday 7 April, when we sent a second e-mail to Dr. Franco;
- Friday 7 April, during a meeting with Dr. Mory Thomas;
- Tuesday 12 April, during a meeting with Dr. Gleizal and Dr. Mory Thomas;
- Friday 14 April, in another discussion with Dr. Mory Thomas.
On Tuesday 18 April we travelled to Tübingen Germany in order to meet with Dr. Poets and his colleagues in person, visit their department, and learn more about the TPP treatment. We saw the TPP medical device first hand being worn by a three-week old baby, born on 28 March, the day before Lysiane. This baby had Pierre Robin Sequence, but she was not sleeping in the dangerous prone (stomach) position; instead she was sleeping on her back, just like any normal baby, and yet she had absolutely no problems breathing whatsoever. It was astonishing for us to see this, because for babies suffering from Pierre Robin Sequence, breathing tends to be at its absolute worst when the baby is on her back. This baby was being discharged from the hospital the same day we arrived. We met the baby’s parents, a couple which had come from Austria so that their baby could benefit from the TPP treatment. This visit brought us a great deal more information, and left us deeply impressed. In addition, Dr. Poets assured us that he was ready to provide the TPP treatment to Lysiane.
When we returned from this trip to Tübingen, back to France, we had a series of meetings with Dr. Picaud, starting with the meeting described above on April 21. After Dr. Picaud informed us that he could not write the medical certificate which we needed for our S2 application, and that only Dr. Abadie could do this, we decided to try one last time with Dr. Abadie, this time by certified mail.
We finally gave up on receiving any support for our S2 application from Dr. Abadie in Paris, or from anyone in Lyon. We began organizing the transfer of Lysiane from Lyon to Tübingen on our own, using money which we had to borrow from family. We set a departure date – the morning of Tuesday 2 May, since Monday 1 May was a national holiday (May Day). Dr. Abadie knew that we were departing to Tübingen on Tuesday 2 May, because although she was disregarding our request for the S2 medical certificate, she was, during this same time period, in regular contact with Dr. Picaud. It was then that she finally sent us a response to the paper letter we had sent her by certified mail.
In fact, Dr. Abadie’s response did not include a medical certificate. Instead, she wrote a simple email, and delivered this email on Friday 28 April at 4:20 pm, less than one hour before the long May Day weekend was about to begin. In her email, Dr. Abadie did finally confirm, in writing, that the TPP treatment is effective; she also confirmed that it is only available in Germany. She added, however, that:
“In France we have an effective alternative strategy for the treatment of upper airway obstruction, as is shown in our publications: Continuous Positive Airway Pressure for Upper Airway Obstruction in Infants with Pierre Robin Sequence. Amaddeo A, Abadie V, Chalouhi C, Kadlub N, Frapin A, Lapillonne A, Leboulanger N, Garabédian EN, Picard A, Fauroux B. Plast Reconstr Surg. 2016 Feb; 137(2):60912.”
“Nous avons en France une stratégie alternative efficace sur le traitement de l’obstruction ventilatoire, comme en témoigne également nos publications, Continuous Positive Airway Pressure for Upper Airway Obstruction in Infants with Pierre Robin Sequence. Amaddeo A, Abadie V, Chalouhi C, Kadlub N, Frapin A, Lapillonne A, Leboulanger N, Garabédian EN, Picard A, Fauroux B. Plast Reconstr Surg. 2016 Feb; 137(2):60912.”
This email from Dr. Abadie, France’s leading expert on Pierre Robin Sequence, suggesting that Continuous Positive Airway Pressure (CPAP) is equally effective as the TPP treatment, forms the basis upon which L’Assurance Maladie rejected our S2 application.
Also, by sending us her message on Friday at 4:20pm, Dr. Abadie guaranteed that there was no possible way we would be able to submit our S2 application to the L’Assurance Maladie office before our departure to Tübingen on Tuesday morning. The L’Assurance Maladie office, a government office, would of course be closed on Saturday – but it would also be closed on Monday, May Day, a public holiday. Thus we would have to depart to Tübingen before L’Assurance Maladie would even receive our S2 application, thereby further reducing our prospects for S2 application approval.
L’Assurance Maladie has a maximum of 2 weeks to respond to an S2 application. However, that 2-week clock doesn’t begin ticking until they receive the patient’s S2 request. We had asked Dr. Abadie in writing for the medical certificate on 7 April 2017. The only reason we were postponing the submission of our S2 application was because we were waiting to receive a response from her. She finally sent her written response, an email, without the medical certificate, on Friday 28 April, a full three weeks later. At any point during this three week period, Dr. Abadie could have either prepared the medical certificate, or, alternatively, informed us honestly and directly that under no circumstances was she going to give us the medical certificate we needed. By making us wait three full weeks for her Friday 28 April email, Dr. Abadie prevented us from even submitting our application to L’Assurance Maladie in the first place.
In the context of this particular rare disease, three weeks is a very long time. For babies suffering from Pierre Robin Sequence, it is generally during the first few months of the baby’s life that the baby’s upper airway obstruction is most severe. Upper airway obstruction has many harmful effects. To begin with, it increases the “work of breathing” – the energy which the baby needs to dedicate to simply getting in enough air. This increased “work of breathing” can be thought of in the following way. If someone were forced to breathe all day and all night through a thin and narrow straw, they might be able to do it, and live. However, being forced to breathe through that thin and narrow straw would greatly increase the person’s “work of breathing”. It would put significant stress on the person’s heart, lungs, circulatory system, and nervous system too, since the upper airway obstruction would cause discomfort, anxiety, and even occasional panic. It was a torture for us to watch our newborn baby daughter Lysiane struggling to breathe in this way.
Also, upper airway obstruction may lead to hypoxia – oxygen deprivation – and hypercapnia – excess carbon dioxide, also called hypercarbia… and hypoxia and hypercapnia cause brain damage. A medical study on Pierre Robin Sequence, “Mandibular distraction osteogenesis for neonates with Pierre Robin sequence and airway obstruction”, explains that:
“Intensive management of the airway is mandatory in patients with moderate to severe airway obstruction in order to prevent episodes of hypoxia and hypercarbia, which can lead to significant cognitive impairment.”
When Lysiane was born, she was not able to breathe at all – she had to be rushed to the Neonatal Resuscitation unit (“Réanimation Néonatale”), to receive the highest possible level of urgent care. Also, Lysiane’s medical report from Croix-Rousse Hospital confirms that in the weeks that followed her birth, Lysiane suffered from both hypoxia and hypercapnia:
“oxygen desaturation [hypoxia] with signs of struggle”
“désaturations avec signes de lutte”
“respiratory fatigue with signs of struggle and hypercapnia”
“fatigue respiratoire avec signes de lutte et hypercapnie”
We knew that for Lysiane, these first few months were critical; they would have long term consequences for her entire life. We also knew that for the TPP treatment itself, time was critical. The TPP treatment is composed of two main stages of care. During the first stage, the baby spends approximately 2 to 3 weeks in the hospital. During this time, a custom made TPP device is created for the baby, and the baby starts wearing this TPP device in her mouth; the baby is closely monitored. After this 2 to 3 week period is over, the baby is discharged from the hospital; the baby goes home with the parents, and lives life like any normal baby – no ventilation machines or any other breathing equipment. During the second stage, at home, the baby simply wears the TPP device in her mouth. Depending upon the baby’s condition, the baby wears the TPP device in her mouth from 3 to 5 months. Once a day, the parents remove the TPP device for cleaning, which is done using a normal toothbrush, the way one would clean a set of dentures. Then, at the end of this second stage, the TPP treatment is over; the TPP device has done its work, and the baby never has to wear the TPP device in her mouth ever again.
The key thing is that this two-stage process: the 2 to 3 weeks of hospitalisation, and then wearing the TPP device for 3 to 5 months – should all be completed before the baby’s teeth start to come in. A baby’s teeth start to come in when the baby is approximately 6 months old. Once the teeth start to come in, the TPP device would need constant adjustments, to adapt to the baby’s changing dental anatomy – and this would be impractical. Thus, if one waits too long, one can reach a point where, practically speaking, it is too late to choose the TPP treatment. In order for a baby suffering from Pierre Robin Sequence to enjoy the full potential of the TPP’s medically proven benefits, the baby should begin the TPP treatment as soon after birth as possible. Time was really important – and yet we had to wait three full weeks to receive an email from Dr. Abadie.
Although Dr. Abadie had not written us the medical certificate we had requested, we had no choice but to print out Dr. Abadie’s email, combine it with the other documents we had prepared, and send L’Assurance Maladie our S2 application requesting cross-border healthcare for our child’s rare disease, on Tuesday 2 May, because the post office was closed on Monday 1 May.
Respiratory difficulties up until our departure to Germany
In our application to L’Assurance Maladie requesting an S2 for the TPP treatment in Germany, we submitted a standard dossier, but we also published and shared, with L’Assurance Maladie, a video of our daughter Lysiane, struggling to breathe, in the French hospital. The video we presented to L’Assurance Maladie can be found here:
The video clearly demonstrates that after weeks of ventilation assistance, under 24/7 Intensive Care in Lyon, Lysiane continued to face respiratory difficulties. The video, “Lysiane – Pierre Robin Sequence – respiratory difficulties”, was created on Friday 28 April, four days before our departure to Tübingen. In the video you can see Lysiane and hear her, fighting to breathe. The video makes it clear that ventilation assistance does not remove the baby’s upper airway obstruction, or correct the underlying anatomical problem, the glossoptosis.
In addition to these clinically visible signs of upper airway obstruction and breathing difficulty, a polysomnography examination indicated that Lysiane suffered from a moderate syndrome of obstructive hypopneas. This sleep study was performed in Lyon at Hôpital Femme Mère Enfant on 26 April 2017. The polysomnography results indicate that when Lysiane was placed to sleep on her back – the natural sleeping position – and when she was disconnected from the breathing machine – the “l’index d’apnées-hypopnées obstructives” – the IAHO – was 6.5/hour, with an increase during REM sleep (18.2/hour), and sleep efficiency reduced by fragmented sleep (index of arousals plus micro-arousals, 28.4/hour). In children, an IAHO greater than 1.5/hour confirms a diagnosis of Obstructive Sleep Apnea; the question then becomes one of which treatment to employ.
On Friday 28 April, the doctor who helped carry out the polysomnography, Dr. Mainguy, explained that if Lysiane were to remain in France, then she would recommend an increase in the flow of Lysiane’s ventilator machine to 6 l/min. Other than that, neither Dr. Mainguy, nor any of the doctors in the Intensive Care unit where Lysiane was being treated, could give us any indication of an end date to Lysiane’s continuing 24/7 hospitalisation. The only hope we as parents could hold onto was the possibility of “l’hospitalisation à domicile”, or HAD, which is simply home hospitalization. This would require us to bring the entire ventilator machine and associated equipment home with us. Lysiane would have to be connected by tubes and a face mask to this ventilator machine whenever she slept, which included night time sleep, but also daytime naps, and therefore almost constantly. Taking her outside in a stroller to the park would be out of the question.
After nearly five weeks of nonstop 24/7 hospitalization in the Intensive Care unit in Lyon, we desperately wanted to finally get our baby out of the hospital so that we as a family could finally be together, like any normal family. At the same time, we did not want to bring the hospital and its equipment home with us, and turn our home into an intensive care unit. With the TPP treatment, long term hospitalization would be completely unnecessary.
Departure to Tübingen for the TPP treatment
On 2 May 2017 we transferred Lysiane from the Croix-Rousse Hospital in Lyon, to the University Hospital of Tübingen in Germany, to receive the TPP treatment. In spite of the fact that the TPP treatment has been regularly utilized in Germany for over 10 years, and its effectiveness has been medically proven in numerous peer reviewed medical studies, we believe that our child, Lysiane, is the first French baby to ever receive the TPP treatment. We will discuss this remarkable fact in the “Legal Analysis” section which appears later in this document.
Notification of L’Assurance Maladie’s refusal
L’Assurance Maladie refused our request for authorisation for cross-border medical care for the rare disease of our child, Lysiane. The letter from L’Assurance Maladie, which is attached, states the following:
“… the medical evaluation department has determined that:
the same treatment or an equally effective treatment can be obtained in France without undue delay. On this basis, we inform you that the medical care can be provided in France within the required time period.”
“… le service du contrôle médical a estimé:
qu’un traitement identique ou présentant le même degré d’efficacité peut être obtenu en temps opportun en France. A ce titre, nous vous indiquons que ces soins peuvent être dispensés en France dans le délai requis.”